EMBRYO ASSESSMENT OF QUALITY ON THE BASIS OF BLASTOMERENTEILUNG AND MOVEMENT

OLIGONUKLEOTIDE FOR INHIBITION AND TO THE PROOF OF HUMAN ARGONAUTE PROTEINS

ADAM12 AS MARKERS FOR THE TURN HE SYNDROME WITH THE FOETUS

DETECTION OF OLIGOSACCHARIDES IN PATIENT SAMPLES TREATED WITH A GLYCOSAMINOGLYCAN LYASE

Provided herein are processes for detecting oligosaccharides in a biological sample. In specific instances, the biological sample is provided from an individual suffering from a disorder associated with abnormal glycosaminoglycan accumulation.

Methods and compositions

The invention relates to a method for aiding the diagnosis of a disorder in a subject, said method comprising; providing a sample from said subject wherein the sample comprises blood; assaying at least two characteristics of said sample, said characteristics selected from: the structural composition of a polypeptide comprised by said sample; a metabolite comprised by said sample; and a catalytic activity comprised by said sample, wherein each of said at least two characteristics is determined from a multiplexed analysis of the same sample. The invention also relates to certain compositions.

FORMATION AND REJUVENATION OF ORGANS AND ALCOHOL DAMAGED ORGAN REGENERATION THROUGH STEM CELL NUTRIENTS

Mechanisms nourish stem cells for organ regeneration and prevent alcohol related diseases such as Fetal Alcohol Syndrome (FAS) and Liver Sclerosis. These stem cell nutrients have been found to positively affect the skin, liver, brain neurons, pancreas, and the Gl tract. Cholesterol supplementation prevents fetal alcohol spectrum defects (FASD) in alcohol-exposed zebra fish embryos. Using the zebra fish model, alcohol was found to interfere with embryonic development by disrupting cholesterol-dependent activation of a critical signaling molecule, sonic hedgehog (Shh). Cholesterol supplementation of the alcohol-exposed embryos restored the functionality of the molecular pathway and prevented development of FASD-like defects. Novel biomarkers were identified for diagnosing alcohol related diseases by lipid chemical analysis and Raman Spectroscope.

METHOD FOR DETECTING AND QUANTITATING MULTIPLE SUBCELLULAR COMPONENTS

A method for detecting and quantitating multiple and unique fluorescent signals from a cell sample is provided. The method combines immunohistochemistry and a fluorescent-labeled in situ hybridization techniques. The method is useful for identifying specific subcellular components of cells such as chromosomes and proteins.

METHODS FOR THE DIAGNOSIS OF FETAL DISEASE

Methods are provided for detecting an aneuploidy in a fetus. These methods can be used to detect trisomy 13, 8 or 21, amongst other aneupoloidies. In some embodiments, the methods include selectively purifying fetal DNA from a maternal biological sample using the methylation status of a CpG containing genomic sequence and genotyping the fetus using the purified fetal DNA, thereby detecting aneuploidy in the fetus.

Method for detecting and quantitating multiple subcellular components

A method for detecting and quantitating multiple and unique fluorescent signals from a cell sample is provided. The method combines immunohistochemistry and a fluorescent-labeled in situ hybridization techniques. The method is useful for identifying specific subcellular components of cells such as chromosomes and proteins.

Prenatal screening for fetal abnormalities and disorders of pregnancy

PROCEDURE AND EQUIPMENT FOR THE PRESENTATION OF DATA OF THROMBOSE ONES AND HAEMOSTASEASSAYS

A method and apparatus for predicting the presence of congenital and acquired imbalances and therapeutic conditions

Paper support and method of recovering biological material therefrom

The present invention relates to paper supports for neonatal screening that are used for the storage and further processing of biological materials. The invention is particularly concerned with paper supports which have at least one surface coated with a chemical that enhances the recovery of the biological material from the support. Methods of preparing and using the paper supports are also described.

Methods of detecting aneuploidy in human embryos

Methods, compositions and kits for determining the developmental potential of one or more embryos or pluripotent cells and/or the presence of chromosomal abnormalities in one or more embryos or pluripotent cells are provided. These methods, compositions and kits find use in identifying embryos and oocytes in vitro that are most useful in treating infertility in humans.

A METHOD FOR PREDICTING AN ABNORMAL LEVEL OF CLOTTING PROTEINS

A method is disclosed for predicting the presence of an abnormal level of one or more proteins in the clotting cascade from at least one time-dependent measurement profile. At least one time-dependent measurement on an unknown sample (103) is performed and a respective property of the sample is measured over time so as to derive a time-dependent measurement profile (101). A set of a plurality of predictor variables (110) are defined which sufficiently define the data of the time-dependent measurement profile (101). A model (113) is then derived that represents the relationship between the abnormality and the set of predictor variables (110). Subsequently, the model (113) is utilized to predict which protein or proteins in the clotting cascade are at an abnormal level, with the prediction (120) being a better prediction than clot time alone.

DIAGNOSIS OF FETAL ANEUPLOIDY

The invention relates to a method for the early non-invasive diagnosis of fetal aneuploidy. In particular, the invention concerns the diagnosis of fetal aneuploidy by identifying protein expression patterns characteristics of fetal aneuploidy in a maternal biological fluid, such as maternal serum or amniotic fluid.

METHODS FOR THE DIAGNOSIS OF FETAL DISEASE

Methods are provided for detecting an aneuploidy in a fetus. These methods can be used to detect trisomy 13, 8 or 21, amongst other aneupoloidies. In some embodiments, the methods include selectively purifying fetal DNA from a maternal biological sample using the methylation status of a CpG containing genomic sequence and genotyping the fetus using the purified fetal DNA, thereby detecting aneuploidy in the fetus.

卵割球の分裂および運動に基づく胚品質の評価

Paper support and method of recovering biological material therefrom

Solid support and method of enhancing the recovery of biological material therefrom

PROCEDURE AND APPARATUS FOR PREDICTING THE PRESENCE OF INNATE ONES AND ACQUIRING UNBALANCEDNESSES AND THERAPEUTIC CONDITIONS

Method and apparatus for presenting thrombosis and hemostasis assay data

USE OF LYSO-GB1 AS DRUGGABLE TARGET

The present invention is related to the in vitro use of lyso-Gbl as a draggable target in the development of a drug, and to antagonist of lyso-Gbl for use in the treatment and/or prevention of a disease, wherein the disease is Gaucher disease or Parkinson's disease ...

DIAGNOSIS OF FETAL ANEUPLOIDY

The invention relates to a method for the early non-invasive diagnosis of fetal aneuploidy. In particular, the invention concerns the diagnosis of fetal aneuploidy by identifying protein expression patterns characteristics of fetal aneuploidy in a maternal biological fluid, such as maternal serum or amniotic fluid.

FORMATION AND REJUVENATION OF ORGANS AND ALCOHOL DAMAGED ORGAN REGENERATION THROUGH STEM CELL NUTRIENTS

Mechanisms nourish stem cells for organ regeneration and prevent alcohol related diseases such as Fetal Alcohol Syndrome (FAS) and Liver Sclerosis. These stem cell nutrients have been found to positively affect the skin, liver, brain neurons, pancreas, and the Gl tract. Cholesterol supplementation prevents fetal alcohol spectrum defects (FASD) in alcohol-exposed zebra fish embryos. Using the zebra fish model, alcohol was found to interfere with embryonic development by disrupting cholesterol-dependent activation of a critical signaling molecule, sonic hedgehog (Shh). Cholesterol supplementation of the alcohol-exposed embryos restored the functionality of the molecular pathway and prevented development of FASD-like defects. Novel biomarkers were identified for diagnosing alcohol related diseases by lipid chemical analysis and Raman Spectroscope.

VARIANTS OF C-TYPE NATRIURETIC PEPTIDE

The present disclosure provides variants of C-type natriuretic peptide (CNP), pharmaceutical compositions comprising CNP variants, and methods of making CNP variants. The CNP variants are useful as therapeutic agents for the treatment of diseases responsive to CNP, including but not limited to bone-related disorders, such as skeletal dysplasias (e.g., achondroplasia), and vascular smooth muscle disorders (e.g., restenosis and arteriosclerosis).

ANALYSIS OF RARE CELL-ENRICHED SAMPLES

The present invention relates to methods for detecting, enriching, and analyzing rare cells that are present in the blood, e.g., epithelial cells. The invention further features methods of analyzing rare cell(s) to determine the presence of an abnormality, disease or condition in a subject by analyzing a cellular sample from the subject.

ВАРИАНТЫ НАТРИЙУРЕТИЧЕСКОГО ПЕПТИДА С-ТИПА

Изобретение относится к области генной инженерии, конкретно к получению натрийуретического пептида C-типа (CNP), и может быть использовано в медицине. Получают пептид структуры PGQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (Pro-Gly-CNP37), который используют для лечения дегенеративных костных патологий, отвечающих на CNP. Изобретение позволяет увеличить по сравнению с нативным CNP время полужизни в плазме за счет пониженной способности связываться с эндопептидазой и пониженной аффинности к рецептору NPR-C при сохранении функциональности CNP. 7 н. и 10 з.п. ф-лы, 83 ил., 17 табл., 19 пр.

ВАРИАНТЫ НАТРИЙУРЕТИЧЕСКОГО ПЕПТИДА С-ТИПА

... 1. Вариант натрийуретического пептида С-типа (CNP), выбранный из группы, состоящей из:GDLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (Gly-CNP53) (SEQ ID NO: 179);PDLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (Pro-CNP53) (SEQ ID NO: 185);MDLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (Met-CNP53) (SEQ ID NO: 190);DLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSNSGLGC [CNP-53(M48N)] (SEQ ID NO: 180);LRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (CNP-52) (SEQ ID NO: 146);RVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (CNP-51) (SEQ ID NO: 147);VDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (CNP-50) (SEQ ID NO: 148);DTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (CNP-49) (SEQ ID NO: 149);TKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (CNP-48) (SEQ ID NO: 150);KSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (CNP-47) (SEQ ID NO: 151);SRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC (CNP-46) (SEQ ID NO: 152);RAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC ...

METHODS AND COMPOSITIONS

The invention relates to a method for aiding the diagnosis of a disorder in a subject, said method comprising; providing a sample from said subject wherein the sample comprises blood; assaying at least two characteristics of said sample, said characteristics selected from: the structural composition of a polypeptide comprised by said sample; a metabolite comprised by said sample; and a catalytic activity comprised by said sample, wherein each of said at least two characteristics is determined from a multiplexed analysis of the same sample. The invention also relates to certain compositions.

PRENATAL SCREENING

The present invention relates to a method for screening maternal urine samples for changes in the pattern of mass spectral fingerprinting which have been found to be characteristic of fetal aneuploidies such as Down's Syndrome and have application for the5 screening of other fetal abnormalities and disorders of pregnancy including gestational trophoblastic diseases.

VARIANTS OF C-TYPE NATRIURETIC PEPTIDE

The present disclosure provides variants of C-type natriuretic peptide (CNP), pharmaceutical compositions comprising CNP variants, and methods of making CNP variants. The CNP variants are useful as therapeutic agents for the treatment of diseases responsive to CNP, including but not limited to bone-related disorders, such as skeletal dysplasias (e.g., achondroplasia), and vascular smooth muscle disorders (e.g., restenosis and arteriosclerosis).

DETECTION OF OLIGOSACCHARIDES

Provided herein are processes for detecting oligosaccharides in a biological sample. In specific instances, the biological sample is provided from an individual suffering from a disorder associated with abnormal glycosaminoglycan accumulation.

PROCESSES AND COMPOSITIONS FOR METHYLATION-BASED ENRICHMENT OF FETAL NUCLEIC ACID FROM A MATERNAL SAMPLE USEFUL FOR NON-INVASIVE PRENATAL DIAGNOSES

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

METHODS OF DETECTING ANEUPLOIDY IN HUMAN EMBRYOS

Methods, compositions and kits for determining the developmental potential of one or more embryos or pluripotent cells and/or the presence of chromosomal abnormalities in one or more embryos or pluripotent cells are provided. These methods, compositions and kits find use in identifying embryos and oocytes in vitro that are most useful in treating infertility in humans.

A METHOD AND APPARATUS FOR PREDICTING THE PRESENCE OF CONGENITAL AND ACQUIRED IMBALANCES AND THERAPEUTIC CONDITIONS

A method and apparatus are disclosed for predicting the presence of at least one congenital or acquired imbalance or therapeutic condition associated with thrombosis/hemostasis from at least one time- dependent measurement profile, (Figs. 3-6). At least one time-dependent measurement on an unknown sample is performed and a respectiv e property of said sample is measured over time so as to derive a time-dependent measurement profile, (Figs. 3-6). A set of a plurality of predictor variables are defined which sufficiently define the data of the time-dependent measurement profile, (Fig. 13). A model is then derive d that represents the relationship between the congenital or acquired imbalance or therapeutic condition and the set of predictor variables. Subsequently, the model is utilized to predict the existence of the congenital or acquired imbalance or therapeutic condition in the unknown sample.

씨형 나트륨이뇨 펩티드의 변이체

... 본 발명은 C-형 나트륨이뇨 펩티드(C-type natriuretic peptide, CNP)의 변이체(variant), CNP 변이체를 포함하는 약학적 조성물, CNP 변이체의 제조방법에 관한 것이다. 상기 CNP 변종은 이형성증(dysplasia (예컨대, 연골무형성증(achondroplasia)))같은, 골-관련 질병 또는 혈관 평활근 질병(vascular smooth muscledisorder (예컨대, 재협착(restenosis), 동맥경화증(arteriosclerosis)))을 포함하지만 이에 제한되지 않는, CNP 반응성 질병의 치료용 제제로 유용하다.

A METHOD FOR PREDICTING AN ABNORMAL LEVEL OF CLOTTING PROTEINS

A method is disclosed for predicting the presence of an abnormal level of one or more proteins in the clotting cascade from at least one time-dependent measurement profile. At least one time-dependent measurement on an unknown sample (103) is performed and a respective property of the sample is measured over time so as to derive a time-dependent measurement profile (101). A set of a plurality of predictor variables (110) are defined which sufficiently define the data of the time-dependent measurement profile (101). A model (113) is then derived that represents the relationship between the abnormality and the set of predictor variables (110). Subsequently, the model (113) is utilized to predict which protein or proteins in the clotting cascade are at an abnormal level, with the prediction (120) being a better prediction than clot time alone.

EMBRYO QUALITY ASSESSMENT BASED ON BLASTOMERE DIVISION AND MOVEMENT

卵割球の分裂および運動に基づく胚品質の評価

Способ диагностики устойчивости к реализации вторичных иммунодефицитных состояний у детей с врожденным пороком сердца грудного и раннего возраста

Изобретение относится к медицине, а именно к иммунологии, кардиологии и педиатрии, и может быть использовано для диагностики вторичных иммунодефицитных состояний у детей с врожденным пороком сердца грудного, раннего и дошкольного возраста, перенесших полное или частичное удаление вилочковой железы в ходе оперативной коррекции врожденных пороков сердца. Проводят сонографию тимуса с определением оставшейся от операции в прошлом части тимической паренхимы; УЗИ диагностику областей верхнего средостения, лопаточно-трапециевидного треугольника, лопаточно-ключичного треугольника, грудинно-ключично-сосцевидной области с надключичными ямками шеи, области поднижнечелюстного треугольника, а также паренхимы щитовидной железы; определение Т-лимфоцитов с маркировкой T-cell Receptor Excision Circle (TREC) в крови и определение частоты заболеваний ОРВИ в период после операции на сердце с тимэктомией у ребенка. При уровне Т-лимфоцитов с маркировкой TREC в крови ниже референсного значения, определенных после ...

New oligonucleotide, comprising specified sequences, is argonaute-4 expression inhibitor, useful for diagnosing or treating disorders or diseases e.g. angiogenesis, hematopoiesis, embryogenesis or microRNA-biogenesis

Oligonucleotide, comprising one or more sequences comprising SEQ ID NOs: 1-6, is new. Oligonucleotide, comprising one or more sequences including caggcaaagattggaaaggg (SEQ ID NO: 1), caagttttgcatttatcttc (SEQ ID NO: 2), tgcaagtagtcgtgtgagtt (SEQ ID NO: 3), aatttgtactgcaagtagtc (SEQ ID NO: 4), gtttatgagatttggaccgt (SEQ ID NO: 5) or gagaaggctagtttatgaga (SEQ ID NO: 6), is new. Independent claims are included for: (1) a vector comprising the oligonucleotide; (2) a nucleic acid construct comprising the oligonucleotide and a detectable marker; (3) a composition comprising the oligonucleotide, optionally in conjunction with one or more adjuvants, diluents and/or carriers; (4) a diagnostic composition comprising the oligonucleotide or the nucleic acid construct; (5) specifically inhibiting the expression of ago-4 in a cell in vitro, comprising introducing the oligonucleotide or the vector in the cell, and providing suitable hybridization conditions; and (6) detecting ago-4 mRNA in a cell in vitro ...

VERFAHREN UND APPARATUR ZUM PRÄSENTIEREN VON DATEN VON THROMBOSE- UND HAEMOSTASEASSAYS

Detection of oligosaccharides

ADAM12, a novel marker for abnormal cell function

Method for detecting and quantitating multiple subcellular components

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

Solid support and method of enhancing the recovery of biological material therefrom

The present invention relates to solid supports that are used for the storage and further processing of biological materials. The invention is particularly concerned with solid supports which have at least one surface coated with a chemical that enhances the recovery of the biological material from the support. Methods of preparing and using the solid supports are also described.

Tissue potency determination through quantitative histomorphology analysis

Systems and methods for performing quantitative histopathology analysis for determining tissue potency are disclosed. According to some embodiments, a method training a tissue classifier is provided. According to the method, training the tissue classifier includes generating feature fingerprints of detected nuclei within slide images in a control library and clustering the slide images based on their corresponding feature fingerprints. According to some embodiments, a method for utilizing the trained tissue classifier is provided. According to the method, the trained tissue classifier determines whether tissue in an unknown slide image corresponds to slide images clustered during the training of the tissue classifier.

METHOD FOR DETECTING AND QUANTITATING MULTIPLE SUBCELLULAR COMPONENTS

A method for detecting and quantitating multiple and unique fluorescent signals from a cell sample is provided. The method combines immunohistochemistry and a fluorescent-labeled in situ hybridization techniques. The method is useful for identifying specific subcellular components of cells such as chromosomes and proteins.

PROCESSES AND COMPOSITIONS FOR METHYLATION-BASED ENRICHMENT OF FETAL NUCLEIC ACID FROM A MATERNAL SAMPLE USEFUL FOR NON-INVASIVE PRENATAL DIAGNOSES

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

PROCESSES AND COMPOSITIONS FOR METHYLATION-BASED ENRICHMENT OF FETAL NUCLEIC ACID FROM A MATERNAL SAMPLE USEFUL FOR NON-INVASIVE PRENATAL DIAGNOSES

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

METHOD FOR SCREENING, USING GABA RECEPTORS, FOR PREPARATIONS FOR PREVENTING FETAL NEURAL DISEASE CAUSED BY ALCOHOL EXPOSURE DURING PREGNANCY

The present invention relates to a method for screening for preparations for preventing fetal neural disease caused by alcohol exposure during pregnancy, comprising: a step of treating a fetus-derived specimen with ethanol to inhibit the expression of GABAB1 receptors; and a step of treating the specimen with a candidate material, and checking the increase in the expression of one or more selected from a group consisting of GABAB1 receptors, p-CREB and PKA. The present invention also relates to a method for predicting the probability of the onset of fetal neural disease caused by alcohol exposure during pregnancy, comprising measuring the decrease in the expression of GABAB1 receptors in the fetus-derived specimen exposed to alcohol. The present invention also relates to a method for preparing compositions for preventing fetal neural disease caused by alcohol exposure during pregnancy, comprising: a step of treating a fetus-derived specimen exposed to alcohol with a candidate material, ...

BIOMARKERS FOR SPINAL MUSCULAR ATROPHY

The present invention provides novel biomarkers that segregate with measures of clinical severity of spinal muscular atrophy. In particular, biomarkers in the plasma and urine that can be used to predict or assess severity of SMA or confirm diagnosis of SMA in a patient are disclosed. Methods of using such biomarkers to screen potential therapeutics and monitor efficacy of a therapeutic intervention in a patient are also described.

METHODS FOR SCREENING AND DIAGNOSING GENETIC CONDITIONS

The present invention relates to methods and systems useful for screening and/or diagnosing genetic conditions in a fetus.

Means and methods for non-invasive diagnosis of chromosomal aneuploidy

The invention relates to a prenatal diagnostic method for the determination of a chromosomal aberration in a biological sample obtained from an individual, the method comprising: a) selecting for and isolating from said biological sample of an individual one or more target sequences of DNA molecules contained in the biological sample, wherein said target sequences comprise DNA sequences having consensus nucleosome binding regions; b)amplifying said selected target sequences; c) sequencing said amplified selected target sequences and allotting them to the chromosomes of the genome and identifying the unique allotted target sequences; d) determining a first amount for each of one or more first chromosomes identified on the basis of said unique allotted target sequences originating from said one or more first chromosomes; e) determining a second amount for each of one or more second chromosomes identified on the basis of said unique allotted target sequences originating from said one or more ...

METHOD FOR DETECTING AND QUANTITATING MULTIPLE SUBCELLULAR COMPONENTS

A METHOD AND APPARATUS FOR PREDICTING THE PRESENCE OF CONGENITAL AND ACQUIRED IMBALANCES AND THERAPEUTIC CONDITIONS

A method and apparatus are disclosed for predicting the presence of at least one congenital or acquired imbalance or therapeutic condition associated with thrombosis/hemostasis from at least one time-dependent measurement profile, (Figs. 3-6). At least one time-dependent measurement on an unknown sample is performed and a respective property of said sample is measured over time so as to derive a time-dependent measurement profile, (Figs. 3-6). A set of a plurality of predictor variables are defined which sufficiently define the data of the time-dependent measurement profile, (Fig. 13). A model is then derived that represents the relationship between the congenital or acquired imbalance or therapeutic condition, and the set of predictor variables. Subsequently, the model is utilized to predict the existence of the congenital or acquired imbalance or therapeutic condition in the unknown sample.

Detection of oligosaccharides

A process for determining the presence of abnormal glycosaminoglycan (GAG) accumulation or related disorder comprising generating a biomarker of one or more non-reducing end oligosaccharides, wherein the biomarker is a saturated oligosaccharide and is generated by treating the GAGS with a glycosaminoglycan lyase, e.g. heparin lyase, chondroitinase, keratanase or hyaluronidase, and detecting the amount of the biomarker. The disorder may be mucopolysaccharidosis (MPS). Also claimed is a composition comprising one or more isolated oligosaccharide, with or without a detectable label.

A method and apparatus for predicting the presence of congen ital and acquired imbalances and therapeutic conditions

PROCESSES AND COMPOSITIONS FOR METHYLATION-BASED ENRICHMENT OF FETAL NUCLEIC ACID FROM A MATERNAL SAMPLE USEFUL FOR NON-INVASIVE PRENATAL DIAGNOSES

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

PAPER SUPPORT AND METHOD OF RECOVERING BIOLOGICAL MATERIAL THEREFROM

The present invention relates to paper supports for neonatal screening that are used for the storage and further processing of biological materials. The invention is particularly concerned with paper supports which have at least one surface coated with a chemical that enhances the recovery of the biological material from the support. Methods of preparing and using the paper supports are also described.

METHODS OF DETECTING ANEUPLOIDY IN HUMAN EMBRYOS

Methods, compositions and kits for determining the developmental potential of one or more embryos or pluripotent cells and/or the presence of chromosomal abnormalities in one or more embryos or pluripotent cells are provided. These methods, compositions and kits find use in identifying embryos and oocytes in vitro that are most useful in treating infertility in humans.

METHOD FOR DIAGNOSING MPS IIIB DISORDER

PAPER SUPPORT AND METHOD OF RECOVERING BIOLOGICAL MATERIAL THEREFROM

The present invention relates to paper supports for neonatal screening that are used for the storage and further processing of biological materials. The invention is particularly concerned with paper supports which have at least one surface coated with a chemical that enhances the recovery of the biological material from the support. Methods of preparing and using the paper supports are also described.

OLIGONUCLEOTIDES FOR INHIBITING AND FOR IDENTIFYING HUMAN ARGONAUTE PROTEINS

The invention relates to oligonucleotides that can specifically hybridise with mRNAs that code for argonaute proteins. Said oligonucleotides can inhibit the expression of argonaute proteins and can identify argonaute mRNA. The invention also relates to pharmaceutical compositions that contain these oligonucleotides, to methods for the specific inhibition of the expression of argonaute proteins and for the identification of argonaute mRNA, and to the use of said oligonucleotides for inhibiting the expression of argonaute proteins in a cell.

A METHOD OF SURFACE PLASMON RESONANCE (SPR) TECHNOLOGY TO DETECT GENOMIC DISORDERS FOR PRENATAL DIAGNOSIS

The present invention discloses using SPR technology to prenatally detect specific DNA loss or gain related to some genomic disorders. An efficient formula to make a mixed SAM that can greatly enhance the immobilization ability of the metal surface in SPR based techniques, which is good for the immobilization of DNA markers used for the identification of chromosome numerical abnormalities (such as chromosomes 13, 18, 21, X and Y related anomalies) and chromosome microdeletion syndromes (such as DiGeorge syndrome, etc) is also disclosed.

Systems and methods for enhanced SCODA

Methods and apparatus for separating, concentrating and/or detecting molecules based on differences in binding affinity to a probe are provided. The molecules may be differentially modified. The molecules may be differentially methylated nucleic acids. The methods can be used in fields such as epigenetics or oncology to selectively concentrate or detect the presence of specific biomolecules or differentially modified biomolecules, to provide diagnostics for disorders such as fetal genetic disorders, to detect biomarkers in cancer, organ failure, disease states, infection or the like.

ADAM12 as marker for 2nd trimester Down Syndrome

The present inventors describe ADAM12 as an important indicator of foetal and placental development, function and changes in the level of ADAM12 may reflect the presence, classification or progression of disease. The present invention provides a method, an assay and a kit for providing an indication of Down Syndrome. The present application demonstrates that ADAM12 is reduced in first trimester and increased in second trimester Down Syndrome pregnancies. ADAM12 may thus serve as a maternal serum risk marker for fetal disease. It is thus an object of the present invention to provide an improvement of the existing marker tests that exhibits a decreased false positive rate or improved detection rate of chromosomal disease or adverse pregnancy outcome.

METHODS AND COMPOSITIONS

Embryo quality assessment based on blastomere division and movement

The invention concerns a system and method for determining embryo quality comprising monitoring the embryo for a time period, said time period having a length sufficient to comprise at least one cell division period and at least a part of an inter-division period, and determining the length of the at least one cell division period; and/or ii) determining the extent and/or spatial distribution of cellular or organelle movement during the cell division period; and/or iii) determining duration of an inter-division period; and/or iv) determining the extent and/or spatial distribution of cellular or organelle movement during the inter-division period thereby obtaining an embryo quality measure. Thus, the selection of optimal embryos to be implanted after in vitro fertilization (IVF) is facilitated based on the timing, duration, spatial distribution, and extent of observed cell divisions and associated cellular and organelle movement.

Means and methods for non-invasive diagnosis of chromosomal aneuploidy

The invention relates to a prenatal diagnostic method for the determination of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant woman, which method comprises enrichment and quantification of selected cell-free deoxyribonucleic acid sequences showing consensus nucleosome binding regions.

MEANS AND METHODS FOR NON-INVASIVE DIAGNOSIS OF CHROMOSOMAL ANEUPLOIDY

The invention relates to a prenatal diagnostic method for the determination of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant woman, which method comprises enrichment and quantification of selected cell-free deoxyribonucleic acid sequences showing consensus nucleosome binding regions.

SOLID SUPPORT AND METHOD OF ENHANCING THE RECOVERY OF BIOLOGICAL MATERIAL THEREFROM

The present invention relates to solid supports that are used for the storage and further processing of biological materials. The invention is particularly concerned with solid supports which have at least one surface coated with a chemical that enhances the recovery of the biological material from the support. Methods of preparing and using the solid supports are also described.

ADAM12, A NOVEL MARKER FOR ABNORMAL CELL FUNCTION

The present invention provides a method, an assay and a kit for providing an indication of abnormal cell function. It was surprisingly found that the change in the serum ADAM12 concentration in individuals was useful as a prognostic tool to predict the clinical outcome, complications and mortality following an abnormal cell function. The present inventors describes ADAM12 as a overall general marker for abnormal cell function, and the present inventor for the first time demonstrate that ADAM12 is an important indicator of fetal chromosomal disease and placenta function. Specifically ADAM12 is a good marker for e.g. Downs's syndrome, trisomy 18, preeclampsia, Turner syndrome in both first and second trimester. The present inventors developed an enzyme-linked immunosorbent assay (ELISA) and a time-resolved immunofluorometric assay for the quantification of ADAM12 in serum. The present application demonstrates in several examples the variation of the ADAM12 level in fetal abnormality and/or ...

METHODS AND COMPOSITIONS

The invention relates to a method for aiding the diagnosis of a disorder in a subject, said method comprising; providing a sample from said subject wherein the sample comprises blood; assaying at least two characteristics of said sample, said characteristics selected from: the structural composition of a polypeptide comprised by said sample; a metabolite comprised by said sample; and a catalytic activity comprised by said sample, wherein each of said at least two characteristics is determined from a multiplexed analysis of the same sample. The invention also relates to certain compositions.

BIOMARKERS FOR ANDERSON-FABRY DISEASE

Disclosed herein is a method for screening and diagnosis of Anderson-Fabry Disease in a subject based on biomarker expression in patient samples. Also disclosed are computer systems, kits, and software for implementation of the biomarkers.

ASSAYS AND KITS TO DETERMINE GALACTOCEREBROSIDASE ACTIVITY ON SOLID SUPPORT

The present invention discloses compositions, methods, assays and kits which provide for rapid, high-throughput and sensitive assays useful for detecting the activity of galactocerebrosidase (GALC) in a test sample. The methods, assays and kits of the present invention provide useful diagnostic tools which may be used to identify subjects suspected of having an enzyme deficiency and to evaluate the efficacy of enzyme replacement therapy.

Methods For The Diagnosis Of Fetal Abnormalities

The present invention relates to methods for detecting, enriching, and analyzing rare cells that are present in the blood, e.g. fetal cells. The invention further features methods of analyzing rare cell(s) to determine the presence of an abnormality, disease or condition in a subject, e.g. a fetus by analyzing a cellular sample from the subject.

Biomarker panel for non-invasive diagnosis of congenital renal dysfunction

Disclosed herein are methods and compositions for prognosing or diagnosing an obstructive renal dysfunction or ureteropelvic junction obstruction (UPJO) in a subject, involving detecting in a urine sample from a subject one or more proteins selected from the group consisting of Immunoglobulin superfamily containing leucine-rich repeat protein (ISLR); Nicotinate-nucleotide pyrophosphorylase [carboxylating] (QPRT); Prostaglandin reductase 1 (PTGR1); Vascular cell adhesion protein 1 (VCAM1); and Ficolin-2 (FCN2), or detectable portions thereof to identify the subject as at risk of or having an obstructive renal dysfunction or UPJO.

DIAGNOSIS OF FETAL ANEUPLOIDY

Pharmaceutical compositions containing proteases and methods for the treatment of lysosomal storage diseases

The invention provides a method and compositions for treating a subject with a lysosomal storage disease such as gaucher disease, by administering to a subject with a lysosomal storage disease a therapeutically effective amount of composition comprising at least one of a protease or peptidase in an amount sufficient to ameliorate, reduce or improve at least one symptom of the disease. The invention also provides dietary supplements for subjects having lysosomal storage diseases.

METHOD AND APPARATUS FOR PRESENTING THROMBOSIS AND HEMOSTASIS ASSAY DATA

A method is disclosed for presenting data from an assay relating to thrombosis-hemostasis on an unknown sample (103), and data from a plurality of assays relating to thrombosis-hemostasis from known sample populations. Data is provided from at least one time dependent measurement profile for each of a plurality of known blood samples and a respective property over time is measured so as to derive at least one time-dependent measurement (101) for an unknown blood sample (103). Data from these steps are transformed to one or more predictor variables (110) from which a topological feature map (113) is created which has spatial locations that correspond to intrinsic features of the predictor variables (110). A determination is made of the position on the map (113) of the unknown sample (103) corresponding to its set of predictor variables (110) and then a presentation is made of the data from the unknown blood sample time-dependent measurement profile (101) relative to the data from the known blood sample time-dependent measurement profile.

TISSUE POTENCY DETERMINATION THROUGH QUANTITATIVE HISTOMORPHOLOGY ANALYSIS

Systems and methods for performing quantitative histopathology analysis for determining tissue potency are disclosed. According to some embodiments, a method training a tissue classifier is provided. According to the method, training the tissue classifier includes generating feature fingerprints of detected nuclei within slide images in a control library and clustering the slide images based on their corresponding feature fingerprints. According to some embodiments, a method for utilizing the trained tissue classifier is provided. According to the method, the trained tissue classifier determines whether tissue in an unknown slide image corresponds to slide images clustered during the training of the tissue classifier.

PREPARATION OF FETAL NUCLEATED RED BLOOD CELLS (NRBCS) FOR DIAGNOSTIC TESTING

The disclosure relates to methods of preparation of fetal nucleated red blood cells (NRBCs) from biological samples for diagnostic testing.

ANALYSIS OF A PANEL OF CEREBROTENDINOUS XANTHOMATOSIS BIOMARKERS USING SITE SPECIFIC DERIVATION AND LC/MS/MS WORKFLOW

A method, a labeling reagent, sets of labeling reagents, and labeling techniques are provided for the analysis of ketosterol biomarkers such as bile acid precursors from human plasma, serum or whole blood. This method is used for new born screening for Cerebrotendinous Xanthomatosis (CTX). Methods for labeling, analyzing, and quantifying ketosterol biomarkers are also disclosed as are methods that also use mass spectrometry.

SYSTEMS AND METHODS FOR ENHANCED SCODA

Methods and apparatus for separating, concentrating and/or detecting molecules based on differences in binding affinity to a probe are provided. The molecules may be differentially modified. The molecules may be differentially methylated nucleic acids. The methods can be used in fields such as epigenetics or oncology to selectively concentrate or detect the presence of specific biomolecules or differentially modified biomolecules, to provide diagnostics for disorders such as fetal genetic disorders, to detect biomarkers in cancer, organ failure, disease states, infection or the like.

In the neonatal screening of a Digest of the diagnosis method

METHOD FOR DETECTING AND QUANTITATING MULTIPLE SUBCELLULAR COMPONENTS

A method for detecting and quantitating multiple and unique fluorescent signals from a cell sample is provided. The method combines immunohistochemistry and a fluorescent-labeled in situ hybridization techniques. The method is useful for identifying specific subcellular components of cells such as chromosomes and proteins. © KIPO & WIPO 2008 ...

DIAGNOSIS OF FETAL ABNORMALITIES USING NUCLEATED RED BLOOD CELLS

The present invention relates to methods for diagnosing a condition in a fetus by enriching and enumerating circulating red blood cells with the possible combination of results from maternal serum marker screens.

Methods for the diagnosis of fetal abnormalities

The present invention relates to methods for detecting, enriching, and analyzing rare cells that are present in the blood, e.g. fetal cells. The invention further features methods of analyzing rare cell(s) to determine the presence of an abnormality, disease or condition in a subject, e.g. a fetus by analyzing a cellular sample from the subject.

ADAM12 as marker for 2nd trimester Down Syndrome

Solid support and method of enhancing the recovery of biological material therefrom

The present invention relates to solid supports that are used for the storage and further processing of biological materials. The invention is particularly concerned with solid supports which have at least one surface coated with a chemical that enhances the recovery of the biological material from the support. Methods of preparing and using the solid supports are also described.

NOVEL TFIIH SUBUNIT

The present invention pertains to a nucleic acid sequence encoding a human TFIIH 8kDa subunit and related sequences. The nucleic acids may be used in methods for producing a TFIIH subunit, as well as in methods for diagnosing or treating transcription and NER deficiencies, in particular in some forms of trichothiodystrophy (TTD). The hTFB5 / TTDA gene and encoded protein may be used for therapy or genetherapy products, aimed at treating congenital NER disorders and may also be used in methods of diagnosis of disorders in basal transcription, NER and TCR activity in mammals, using molecular probes or antibodies specific for TTDA.

MEANS AND METHODS FOR NON-INVASIVE DIAGNOSIS OF CHROMOSOMAL ANEUPLOIDY

The invention relates to a prenatal diagnostic method for the determination of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant woman, which method comprises enrichment and quantification of selected cell-free deoxyribonucleic acid sequences showing consensus nucleosome binding regions.

PHARMACEUTICAL COMPOSITIONS CONTAINING PROTEASES AND METHODS FOR THE TREATMENT OF LYSOSOMAL STORAGE DISEASES

The invention provides a method and compositions for treating a subject with a lysosomal storage disease such as gaucher disease, by administering to a subject with a lysosomal storage disease a therapeutically effective amount of composition comprising at least one of a protease or peptidase in an amount sufficient to ameliorate, reduce or improve at least one symptom of the disease. The invention also provides dietary supplements for subjects having lysosomal storage diseases.

SOLID SUPPORT AND METHOD OF ENHANCING THE RECOVERY OF BIOLOGICAL MATERIAL THEREFROM

The present invention relates to solid supports that are used for the storage and further processing of biological materials. The invention is particularly concerned with solid supports which have at least one surface coated with a chemical that enhances the recovery of the biological material from the support. Methods of preparing and using the solid supports are also described.

VARIANTS OF C-TYPE NATRIURETIC PEPTIDE

The present disclosure provides variants of C-type natriuretic peptide (CNP), pharmaceutical compositions comprising CNP variants, and methods of making CNP variants. The CNP variants are useful as therapeutic agents for the treatment of diseases responsive to CNP, including but not limited to bone-related disorders, such as skeletal dysplasias (e.g., achondroplasia), and vascular smooth muscle disorders (e.g., restenosis and arteriosclerosis).

A METHOD AND APPARATUS FOR PREDICTING THE PRESENCE OF CONGENITAL AND ACQUIRED IMBALANCES AND THERAPEUTIC CONDITIONS

A method and apparatus are disclosed for predicting the presence of at least one congenital or acquired imbalance or therapeutic condition associated with thrombosis/hemostasis from at least one time-dependent measurement profile, (Figs. 3-6). At least one time-dependent measurement on an unknown sample is performed and a respective property of said sample is measured over time so as to derive a time-dependent measurement profile, (Figs. 3-6). A set of a plurality of predictor variables are defined which sufficiently define the data of the time-dependent measurement profile, (Fig. 13). A model is then derived that represents the relationship between the congenital or acquired imbalance or therapeutic condition, and the set of predictor variables. Subsequently, the model is utilized to predict the existence of the congenital or acquired imbalance or therapeutic condition in the unknown sample.

METHODS INVOLVING LEF-1 REGULATION AND USE OF LEF-1 OR COMPOUNDS ALTERING LEF-1 SIGNALLING FOR TREATING OR PREVENTING DISEASES

The present inventions relates to the use of LEF-1 or functional fragments or homologs thereof, or enhancer or inducer of LEF-1 expression, activity or LEF-1 mediated signalling for the preparation of a pharmaceutical for preventing or treating all types of cytopenia of the myeloid or lymphoid lineage. In particular, the present invention relates to the treatment of severe congenital neutropenia. In another embodiment the present invention relates to the treatment of various types of cancer, in particular, of cancer involving altered granulocyte proliferation, survival and differentiation from granulocytes progenitor cells.

Method for Detecting and Quantitating Multiple-Subcellular Components

A method for detecting and quantitating multiple and unique fluorescent signals from a cell sample is provided. The method combines immunohistochemistry and a fluorescent-labeled in situ hybridization techniques. The method is useful for identifying specific subcellular components of cells such as chromosomes and proteins.

Means and methods for non-invasive diagnosis of chromosomal aneuploidy

The invention relates to a prenatal diagnostic method for the determination of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant woman, which method comprises enrichment and quantification of selected cell-free deoxyribonucleic acid sequences showing consensus nucleosome binding regions.

TREATMENT OF HUTCHINSON-GILFORD PROGERIA SYNDROME AND DISEASES RELATED TO VASCULAR AGEING

The present disclosure relates to the treatment of Hutchinson-Gilford Progeria Syndrome (HGPS) and diseases related to vascular ageing and in the treatment of smooth muscle cells diseases, in particular an inhibitor of a metalloprotease the treatment of smooth muscle cells diseases. The disclosure subject matter describes a more effective therapies for the treatment of Hutchinson-Gilford Progeria Syndrome and diseases related to vascular ageing, or namely by the use of an inhibitor of a metalloprotease. 1. A method for treating Hutchinson-Gilford Progeria Syndrome or vascular ageing diseases comprising administering an effective amount of a metalloprotease inhibitor comprising a zinc endopeptidase , wherein said inhibitor is selected from the following compounds: pyrimidine-4 ,6-dicarboxylic acid , bis-(4-fluoro-3-methyl-benzylamide);pyrimidine-4,6-dicarboxylic acid, bis-(3-methyl-benzylamide);pyrimidine-4,6-dicarboxylic acid, bis-(benzylamide);pyrimidine-4,6-dicarboxylic acid bis-[(Pyridin-3-YL-Methyl)-Amide;(2R,3S)-N4-Hydroxy-2-isobutyl-N1-[(2S)-1-(methylamino)-1-oxo-3-phenyl-2-propanyl]-3-[(2-thienylsulfanyl)methyl]succinamide;N-[2,2-dimethyl-1-(methylcarbamoyl)propyl]-2-[hydroxy-(hydroxycarbamoyl)methyl]-4-methyl-pentanamide;N-hydroxy-4-((4-((4-hydroxy-2-butynyl)oxy)phenyl)sulfonyl)-2,2-dimethyl-3-thiomorpholinecarboxamide;MMP-13 siRNA, and mixtures thereof,to a patient in need thereof.2. The method according to wherein said inhibitor is an inhibitor of MMP-1 claim 1 , MMP-7 claim 1 , MMP-13 or MMP-14.3. The method according to wherein said inhibitor is an inhibitor of MMP-13.4. (canceled)5. The method according to wherein said inhibitor is selected from the following compounds:(2R,3S)-N4-Hydroxy-2-isobutyl-N1-[(2S)-1-(methylamino)-1-oxo-3-phenyl-2-propanyl]-3-[(2-thienylsulfanyl)methyl]succinamide;N-[2,2-dimethyl-1-(methylcarbamoyl)propyl]-2-[hydroxy-(hydroxycarbamoyl)methyl]-4-methyl-pentanamide;N-hydroxy-4-((4-((4-hydroxy-2-butynyl)oxy)phenyl)sulfonyl)-2,2- ...

Tissue potency determination through quantitative histomorphology analysis

Systems and methods for performing quantitative histopathology analysis for determining tissue potency are disclosed. According to some embodiments, a method training a tissue classifier is provided. According to the method, training the tissue classifier includes generating feature fingerprints of detected nuclei within slide images in a control library and clustering the slide images based on their corresponding feature fingerprints. According to some embodiments, a method for utilizing the trained tissue classifier is provided. According to the method, the trained tissue classifier determines whether tissue in an unknown slide image corresponds to slide images clustered during the training of the tissue classifier.

Induced pluripotent stem cell model of noonan syndrome and use thereof

The present invention relates to an induced pluripotent stem cell (iPSC) model of Noonan syndrome, a preparation method thereof, and uses to study of the pathogenesis of Noonan syndrome and a therapeutic agent screening method. Particularly, induced pluripotent stem cells from dermal fibroblasts of a Noonan syndrome-patient (NS-iPSCs) were generated, and differentiated into embryoid bodies (EBs), neural rosettes and neural cells. These iPSCs exhibited the normal morphology while showed reduced differentiation potency compare to control cell lines. NS-iPSCs were developed into embryoid bodies and neural rosettes by naturally and chemically directed differentiation. Interestingly, embryoid bodies and neural rosettes induced via chemically directed differentiation exhibited normal morphology and expressed ectoderm, neural rosettes and neural marker genes similar to normal cells. Thus, the cellular model can be useful in analytical research to understand pathogenesis of Noonan syndrome and establish screening method of the therapeutic agent.

Compositions and Methods of Detecting and Treating Neural Tube Defects

The present invention generally relates to compositions, reagents and methods for detecting and treating a neural tube defect in a fetus. One aspect of the invention provides a method including administrating a composition containing noggin or LDN-193189 to the fetus in utero. In certain embodiments, the composition is administrated if the maternal blood or amniotic fluid contains an elevated amount of BMP4 and/or a reduced amount of noggin. In another aspect of the invention, the method includes administrating a composition containing GDC-0449 to the fetus in utero. In certain embodiments, the GDC-0449 is administrated if the maternal blood or amniotic fluid contains an elevated amount of sonic hedgehog. 1. A method of treating a neural tube defect in a fetus , the method comprising administrating a composition comprising noggin or LDN-193189 in utero.2. The method of claim 1 , further comprising measuring the amount of bone morphogenetic protein 4 (BMP4) in a sample taken from an individual carrying the fetus claim 1 , wherein the composition is administrated if the sample contains an elevated amount of BMP4.3. The method of claim 2 , wherein the sample is a blood sample or an amniotic fluid sample.4. The method of claim 1 , wherein the neural tube defect is an open neural tube and wherein the composition is applied locally to the neural tube.5. The method of claim 1 , wherein the composition is injected in-utero.6. The method of claim 1 , wherein the neural tube defect is a folate responsive neural tube defect.7. The method of claim 1 , further comprising:isolating an embryonic stem cell from amniotic fluid an individual carrying the fetus; anddetermining the level of at least one of H3K4 methylation, H3K27 methylation, H3K9 acetylation, H3K18 acetylation, and GcnS within the stem cell,wherein the composition is administrated if the stem cell exhibits an elevated level of at least one of H3K4 methylation and H3K27 methylation or a decreased level of at least one ...

Purification, extraction and analyses of fetal neurally-derived exosomes in maternal blood and neonatal neurally-derived exosomes from neonatal blood

The present invention provides for the first time the identification of fetal neural exosomal biomarkers isolated from maternal plasma useful in diagnosing fetal neurodevelopmental outcomes. The invention also provides the identification of neonatal neural exosomal biomarkers isolated from neonatal plasma useful in diagnosing neonatal neurodevelopmental outcomes The present invention therefore provides methods, kits and systems for diagnosing fetal neurodevelopmental outcomes, by examining relevant proteins and RNA in fetal neural exosomes isolated from a maternal plasma and neonatal neural exosomes isolated from neonatal plasma. 1. A method of diagnosing neurodevelopmental disorder in a subject , the method comprising:a. providing a biological sample,b. isolating an vesicle from the biological sample,c. determining the level of a biomarker in the vesicle,d. comparing the level of the biomarker in the biological sample with a comparator control, ande. diagnosing the subject with the neurodevelopmental disorder when the level of the biomarker in the biological sample is altered at a statistically significant amount when compared with the level of the biomarker of the comparator control.2. The method of claim 1 , wherein the neurodevelopmental disorder is selected from the group consisting of a fetal neurodevelopmental disorder and a neonatal neurodevelopmental disorder.3. The method of claim 1 , wherein the subject is a selected from the group consisting of a neonatal subject and an in utero fetal subject.4. The method of claim 1 , wherein the biological sample is selected from the group consisting of a sample from a gestational carrier of the fetal subject and a sample from the neonatal subject.5. The method of claim 1 , wherein the vesicle is selected from the group consisting of exosomes claim 1 , microparticles claim 1 , microvesicles claim 1 , nanosomes claim 1 , extracellular vesicles claim 1 , and ectosomes.6. The method of claim 1 , wherein the vesicle is ...

USE OF AMNIOTIC FLUID PEPTIDES FOR PREDICTING POSTNATAL RENAL FUNCTION IN CONGENITAL ANOMALIES OF THE KIDNEY AND THE URINARY TRACT

Bilateral congenital anomalies of the kidney and urinary tract (CAKUT) are the main cause of childhood chronic kidney disease (CKD). Accurate and non-biased prenatal prediction of postnatal disease evolution is currently lacking, but is essential for prenatal counseling and disease management. Here the inventors aimed to develop an objective and quantifiable risk prediction method based on amniotic fluid (AF) peptides. 178 fetuses with bilateral CAKUT were included in a prospective multicenter study. The AF peptide content was studied using capillary electrophoresis coupled to mass spectrometry. The endpoint was early-onset renal failure (CKD stage 3-5) or death due to end-stage renal disease at two years of age. Among the ˜7000 peptide candidates, 98 were associated with early severe renal failure. The most frequently found peptides associated with severe disease were fragments from extracellular matrix proteins and thymosin-P4. Combination of those 98 peptides in a classifier lead to the prediction of postnatal renal outcome in a blinded validation set of 51 patients with a 88% (95% CI: 64-98) sensitivity, 97% (95% CI: 85-100) specificity and an AUC of 0.96 (95% CI: 0.87-1.00), outperforming predictions based on currently used clinical methods. The classifier also predicted normal postnatal renal function in 75% of terminated pregnancies where fetopathology showed kidneys compatible with normal life. Analysis of AF peptides thus allows a precise and quantifiable prediction of postnatal renal function in bilateral CAKUT with potential major impact on pre- and postnatal disease management. 1. A method for predicting postnatal renal function in a fetus diagnosed with bilateral congenital anomalies of the kidney and the urinary tract comprising quantifying in an amniotic fluid sample obtained from the mother the level of at least one peptide of Table A.2. The method of wherein the level of at least 1; 2; 3; 4; 5; 6; 7; 8; 9; 10; 11; 12; 13; 14; 15; 16; 17; 18; 19; 20; ...

METHOD OF ANALYSING A BLOOD SAMPLE OF A SUBJECT FOR THE PRESENCE OF A FOETAL DISEASE OR CONDITION MARKER

The present invention relates to a method of analysing a blood sample of a subject carrying a foetus for the presence of a foetal disease or condition marker, said method comprising the steps of a) extracting nucleic acid from anucleated blood cells, preferably thrombocytes, in said blood sample to provide an anucleated blood cell-extracted nucleic acid fraction, and b) analysing said anucleated blood cell-extracted nucleic acid fraction for the presence of a foetal disease or condition marker, wherein said foetal disease or condition marker is a nucleic acid of a foetus, or wherein said foetal disease or condition marker is a foetal disease or condition-specific expression profile of genes of a cell of said foetus. 1. A method of analysing a blood sample of a subject carrying a foetus for the presence of a foetal disease or condition marker , said method comprising the steps ofa) extracting nucleic acid from anucleated blood cells, preferably thrombocytes, in said blood sample to provide an anucleated blood cell-extracted nucleic acid fraction, andb) analysing said anucleated blood cell-extracted nucleic acid fraction for the presence of a foetal disease or condition marker, wherein said foetal disease or condition marker is a foetal disease or condition-specific nucleic acid sequence or mutation in the nucleic acid of said foetus, or wherein said foetal disease or condition marker is a foetal disease or condition-specific expression profile of genes of a cell of said foetus.2. The method of claim 1 , wherein said anucleated blood cells are thrombocytes or erythrocytes claim 1 , preferably thrombocytes.3. The method of claim 1 , wherein said foetal disease or condition is selected from the group consisting of congenital and genetic disorders.4. The method of wherein said genetic disorder is gene mutation of trisomy or wherein said foetal disease or condition is the foetal gender.5. The method of claim 1 , wherein said foetal disease or condition marker is a nucleic ...

Systems and methods for sample preparation

Methods and devices for isolating or enriching target molecules from a sample are provided herein. In some embodiments, methods and devices further involve detection, analysis and/or sequencing of a target molecule.

METHODS AND DEVICES FOR SEQUENCING

Methods and devices for enriching and analyzing target molecules from a sample are provided herein. In some embodiments, methods and devices involve enrichment of target molecules (e.g., using SCODA) and subsequent detection and analysis using sequencing. 1. A device for analyzing a target molecule from a biological sample , the device comprising an automated sample preparation module connected to a sequencing module ,wherein the automated sample preparation module comprises a cartridge housing that is configured to receive a removable cartridge.2. The device of claim 1 , wherein the removable cartridge is a single-use cartridge or a multi-use cartridge.3. The device of claim 1 , wherein the removable cartridge is configured to receive the biological sample claim 1 , optionally wherein the removable cartridge further comprises the biological sample.4. The device of claim 1 , wherein the automated sample preparation module is directly connected or indirectly connected to the sequencing module.5. The device of claim 1 , wherein the cartridge comprises one or more microfluidic channels configured to contain and/or transport a fluid used in a sample preparation process.6. The device of claim 1 , wherein the cartridge comprises one or more affinity matrices claim 1 , wherein each affinity matrix comprises an immobilized capture probe that has a binding affinity for the target molecule.7. The device of claim 1 , wherein the biological sample is a blood claim 1 , saliva claim 1 , sputum claim 1 , feces claim 1 , urine or buccal swab sample.8. The device of claim 1 , wherein the target molecule is a target nucleic acid.9. (canceled)10. The device of claim 6 , wherein the immobilized capture probe is an oligonucleotide capture probe claim 6 , and wherein the oligonucleotide capture probe comprises a sequence that is at least partially complementary to a target nucleic acid.11. The device of claim 10 , wherein the oligonucleotide capture probe comprises a sequence that is at ...

METHOD OF IDENTIFYING FOETAL ERYTHROBLAST

There is provided a method for identifying at least one foetal erythroblast the method comprising: (a) detecting the expression of at least one foetal erythroblast specific marker selected from the group consisting of neutral amino acid transporter B (SLC1A5), solute carrier family 3 (activators of dibasic and neutral amino acid transport) member 2 isoform A (SLC3A2), Splice Isoform A of Chloride channel protein 6, Transferrin receptor protein 1, Splice Isoform 3 of Protein GPR107 precursor, Olfactory receptor 11H4, Splice Isoform 1 of Protein C9orf5, Cleft lip and palate transmembrane protein 1, BCG induced integral membrane protein BIGM103, Antibacterial protein FALL-39 precursor, CAAX prenyl protease 1 homolog, Splice Isoform 2 of Synaptophysin-like protein, Vitamin K epoxide reductase complex subunit 1-like protein 1, Splice Isoform 1 of Protein C20orf22 (ABHD12), Hypothetical protein DKFZp564K247 (Hypoxia induced gene 1 protein) (IPI Accession No. IPI00295621), Hypothetical protein DK-FZp586C1924 (IPI Accession No. IPI00031064), ALEX3 protein variant, Hypothetical protein MGC14288 (IPI Accession No. IPI00176708), protein with IPI Accession No. IPI00639803 and protein with IPI Accession No. IPI00646289, wherein detection of the marker indicates the presence of the foetal erythroblast. 1. A method for identifying presence of at least one foetal erythroblast in a sample comprising cells from a subject , comprising:detecting expression of at least one foetal erythroblast specific marker selected from the group consisting of neutral amino acid transporter B (SLC1A5), solute carrier family 3 (activators of dibasic and neutral amino acid transport) member 2 isoform A (SLC3A2), splice isoform A of chloride channel protein 6, transferrin receptor protein 1, splice Isoform 3 of Protein GPR107 precursor, Olfactory receptor 11H4, Splice Isoform 1 of Protein C9orf5, Cleft lip and palate transmembrane protein 1, BCG induced integral membrane protein BIGM103, antibacterial ...

Non-invasive diagnostic method for the early detection of fetal malformations

A non-invasive method for the early diagnosis of fetal malformations based on the metabolomics analysis of maternal blood is here described.

Methods for the Diagnosis of Fetal Abnormalities

The present invention relates to methods for detecting, enriching, and analyzing rare cells that are present in the blood, e.g. fetal cells. The invention further features methods of analyzing rare cell(s) to determine the presence of an abnormality, disease or condition in a subject, e.g. a fetus by analyzing a cellular sample from the subject. 157-. (canceled)58. A method for determining the presence or absence of a fetal aneuploidy using a maternal blood sample , the method comprising:a. obtaining a test sample comprising a mixture of fetal and maternal genomic nucleic acids from a maternal blood sample;b. selectively amplifying a plurality of target nucleic acids from the test sample and a plurality of control nucleic acids from a plurality of control regions using primers labeled with a unique tag for each target region, thereby generating amplification products, wherein the target nucleic acids are selected from one or more chromosomes to be tested for aneuploidy, and wherein the control regions are selected from regions of the genome where aneuploidy is not expected;c. amplifying the amplification products using universal primers;d. detecting the amplified target nucleic acids and amplified control nucleic acids;e. quantifying the detected, amplified target nucleic acids and the detected, amplified control nucleic acids from the test sample;f. analyzing the test sample for the presence or absence of a fetal aneuploidy by comparing the quantity of the detected amplified target nucleic acids with the quantity of the detected amplified control nucleic acids; andg. generating a report on a presence or absence of aneuploidy in the maternal blood sample.59. The method of claim 58 , wherein the target nucleic acids are selected from one or more of chromosomes X claim 58 , Y claim 58 , 13 claim 58 , 18 claim 58 , and 21.60. The method of claim 58 , wherein the target nucleic acid sequences are quantified by chromatography claim 58 , electrophoresis claim 58 , ...

Diagnosis of Hereditary Spastic Paraplegias (HSP) by Identification of a Mutation in the ZFYVE26 Gene or Protein

The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).

Metabolomic Prediction of Congenital Heart Defect During Pregnancy, Newborn and Pediatric Stages

Particular aspects of the invention are methods for assaying metabolite levels in samples from a patient during pregnancy using nuclear magnetic resonance and direct flow injection mass spectrometry. In various methods, the assayed metabolites may be acylcarnitine or one or more of C3-OH (hydroxypropionylcarnitine), C5-OH (C3DC), C10, C5:1-DC (glutaconylcarnitine), C14:1-OH (hydroxytetradecenoylcarnitine) and C14:2-OH. One or more methods also may include measuring nuchal translucency of the fetus. Other methods relate to predicting fetal congenital heart defects in a fetus. 142-. (canceled)43. A method for assaying metabolite levels in a biologic sample from a patient using nuclear magnetic resonance and direct flow injection mass spectrometry.44. The method of claim 43 , wherein the patient is a pregnant woman claim 43 , a fetus claim 43 , a newborn claim 43 , or a pediatric patient.45. The method of claim 44 , wherein the patient is a pregnant woman and the assay is performed during the first trimester of pregnancy claim 44 , the second trimester of pregnancy claim 44 , or the third trimester of pregnancy.46. The method of claim 43 , wherein the metabolite is an acylcarnitine.47. The method of claim 43 , wherein the metabolite is one or more of C3-OH (hydroxypropionylcarnitine) claim 43 , C5-OH (C3DC) claim 43 , C10 claim 43 , C5:1-DC (glutaconylcarnitine) claim 43 , C14:1-OH (hydroxytetradecenoylcarnitine) claim 43 , and C14:2-OH.48. The method of claim 44 , wherein the biologic sample is a bodily fluid selected from the group consisting of saliva claim 44 , urine claim 44 , amniotic fluid claim 44 , breath condensate claim 44 , placental tissue claim 44 , and blood.49. The method of claim 48 , wherein the blood is umbilical cord blood.50. The method of claim 44 , wherein the patient is a pregnant woman and the biologic sample is selected from the group consisting of saliva claim 44 , urine claim 44 , amniotic fluid claim 44 , breath condensate claim 44 , blood ...

Biomarker Panel for Non-Invasive Diagnosis of Congenital Renal Dysfunction

Disclosed herein are methods and compositions for prognosing or diagnosing an obstructive renal dysfunction or ureteropelvic junction obstruction (UPJO) in a subject, involving detecting in a urine sample from a subject one or more proteins selected from the group consisting of Immunoglobulin superfamily containing leucine-rich repeat protein (ISLR); 1. A method for prognosing or diagnosing an obstructive renal dysfunction in a subject , comprising:(a) detecting in a urine sample from a subject one or more proteins selected from the group consisting of Immunoglobulin superfamily containing leucine-rich repeat protein (ISLR);Nicotinate-nucleotide pyrophosphorylase [carboxylating] (QPRT); Prostaglandin reductase 1 (PTGR1); Vascular cell adhesion protein 1 (VCAM1); and Ficolin-2 (FCN2), or detectable portions thereof; and(b) comparing an amount of the one or more proteins in the urine sample to a standard;wherein an amount of at least one of the one or more proteins in the urine sample above the standard identifies the subject as at risk of or having an obstructive renal dysfunction.2. The method of claim 1 , wherein an amount of at least one of the one or more proteins in the urine sample above the standard identifies the subject as at risk of or having an obstructive renal dysfunction resulting from ureteropelvic junction obstruction (UPJO).3. The method of claim 1 , wherein the standard comprises a normal range determined from subjects not having an obstructive renal dysfunction.4. The method of claim 2 , wherein the standard comprises a normal range determined from subjects not having UPJO.5. The method of claim 1 , wherein an amount of at least two claim 1 , three claim 1 , four claim 1 , or all five of the one or more proteins in the urine sample above the standard identifies the subject as at risk of or having an obstructive renal dysfunction.6. The method of claim 1 , wherein an amount of PTGR1 in the urine sample above the standard identifies the subject as at ...

DEVICES AND METHODS FOR DETERMINING AND/OR ISOLATING CELLS SUCH AS CIRCULATING CANCER OR FETAL CELLS

Some embodiments of the present invention generally relate to devices and methods for determining and/or isolating cells. For example, one aspect is generally directed to methods and devices for detecting, identifying, counting, and/or potentially sorting cells of interest in blood or other biological sample. In some embodiments, blood samples (or other biological fluids) may be treated with signaling entities, such as pH-sensitive entities, that change color or otherwise produce a signal in suitable internal environments. For example, certain cells, such as cancer or fetal cells, may have differences in intracellular pH compared to other cells, which can be detected using pH-sensitive entities. In certain embodiments, the cells may be sorted based on such signaling entities; for example, illumination of cells in a suitable machine for sorting cells (e.g., using fluorescent light) may allow determination of the cells, which may also be recovered or isolated for further manipulation in some cases. 1181-. (canceled)182. A method of determining stem cells , the method comprising:exposing a biological fluid suspected of containing stem cells to a pH-sensitive entity, wherein the pH-sensitive entity has a first state within the stem cells and a second state within non-stem cells;determining the pH-sensitive entity internally within at least some of the cells within the biological fluid; anddetermining the presence of stem cells based on the determination of the pH-sensitive entity within the cells.183. The method of claim 182 , further comprising confirming the identity of the stem cells.184. The method of claim 182 , wherein the stem cells are fetal stem cells claim 182 , cord blood stem cells claim 182 , embryonic stem cells claim 182 , adult stem cells claim 182 , tissue-specific stem cells claim 182 , or induced pluripotent stem cells.185. The method of claim 182 , wherein the biological fluid is blood claim 182 , cervical fluid claim 182 , vaginal fluid claim 182 , ...

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies.

Use of Lyso-GB1 as Druggable Target

The present invention is related to the in vitro use of lyso-Gb1 as a draggable target in the development of a drug, and to antagonist of lyso-Gb1 for use in the treatment and/or prevention of a disease, wherein the disease is Gaucher disease or Parkinson's disease 115.-. (canceled)17. The method of further comprising determining the binding affinity of the drug candidate to lyso-Gb1.18. The method of claim 16 , wherein the drug candidate is identified in a screening process from a library of compounds claim 16 , wherein the screening process comprises providing a library of compounds and identifying from the library of compounds one or more drug candidates capable of binding to lyso-Gb1.19. The method of claim 16 , wherein Parkinson's disease is caused by a mutation of glucocerebrosidase.20. The method of claim 16 , wherein Parkinson's disease is selected from the group consisting of a mild form of Gaucher disease claim 16 , type 1 Gaucher disease and non-neuronopathic Gaucher disease.21. The method of claim 16 , wherein the at least one symptom is a central nervous symptom.22. The method of claim 16 , wherein the at least one symptom is selected from the group consisting of ataxia claim 16 , dementia claim 16 , ocular apraxia claim 16 , and parkinsonism. The present invention is related to the use of lyso-Gb1, an antagonist of lyso-Gb1, use of an antagonist of lyso-Gb1, a method for the generation of an animal model for a disease, a method for the screening of an agent suitable for and/or capable of treating and/or preventing a disease, and a method for the assessment of the effects of an agent in the treatment and/or prevention of a disease.Modern drug development no longer relies on a more or less heuristic approach, but typically involves the elucidation of the molecular mechanism underlying a disease or a condition, the identification of candidate target molecules and the evaluation of said target molecules. Once such a validated target molecule, which is ...

Systems and methods for enhanced scoda

Methods and apparatus for separating, concentrating and/or detecting molecules based on differences in binding affinity to a probe are provided. The molecules may be differentially modified. The molecules may be differentially methylated nucleic acids. The methods can be used in fields such as epigenetics or oncology to selectively concentrate or detect the presence of specific biomolecules or differentially modified biomolecules, to provide diagnostics for disorders such as fetal genetic disorders, to detect biomarkers in cancer, organ failure, disease states, infection or the like.

PREPARATION OF FETAL NUCLEATED RED BLOOD CELLS (NRBCs) FOR DIAGNOSTIC TESTING

The disclosure relates to methods of preparation of fetal nucleated red blood cells (NRBCs) from biological samples for diagnostic testing. 1. A method of enriching for fetal nucleated red blood cells (fNRBCs) from a biological sample , comprising:(a) subjecting the biological sample to density separation to obtain a fNRBC-containing cell fraction;(b) subjecting the fNRBC-containing cell fraction obtained in step (a) to magnetic activated cell sorting (MACS) using at least one fNRBC positive selection reagent to obtain a MACS-sorted cell population;(c) fluorescently labeling cells in the MACS-sorted cell population obtained in step (b) with at least one fNRBC positive selection reagent to obtain a fluorescently labeled cell population; and(d) sorting the fluorescently labeled cell population obtained in step (c) by flow cytometry to select for fNRBCs, thereby obtaining a population of cells enriched for fNRBCs.2. The method of claim 1 , wherein step (b) utilizes at least one fNRBC positive selection reagent and step (c) utilizes at least two or at least three fNRBC positive selection reagents.3. (canceled)4. The method of claim 1 , wherein at least one fNRBC positive selection reagent of step (b) comprises monoclonal antibody 4B9 an anti-CD235a antibody claim 1 , or a nuclear stain.58-. (canceled)9. The method of claim 1 , which further comprises micromanipulation to isolate individual fNRBCs or groups of fNRBCs.10. The method of claim 1 , which does not comprise a negative selection step.11. The method of claim 1 , wherein the fNRBC-containing cell fraction obtained in step (a) is subject to negative selection prior to step (b).12. The method of claim 1 , wherein the MACS-sorted cell population obtained in step (b) is subject to negative selection prior to step (c).13. The method of claim 11 , wherein the negative selection is negative immunoselection.14. The method of claim 13 , wherein the negative immunoselection utilizes one or more antibodies against one or ...

Methods for the Diagnosis of Fetal Abnormalities

The present invention relates to methods for detecting, enriching, and analyzing rare cells that are present in the blood, e.g. fetal cells. The invention further features methods of analyzing rare cell(s) to determine the presence of an abnormality, disease or condition in a subject, e.g. a fetus by analyzing a cellular sample from the subject. 157-. (canceled)58. A method for determining the presence or absence of a fetal aneuploidy using a maternal blood sample comprising a mixture of fetal and maternal genomic nucleic acids , the method comprising:a. obtaining a test sample comprising a mixture of fetal and maternal genomic nucleic acids from a maternal blood sample;b. selectively amplifying a plurality of target nucleic acids from the test sample and a plurality of target nucleic acids from a reference sample, wherein the target nucleic acids are selected from one or more chromosomes to be tested for aneuploidy, and wherein the reference sample is diploid for the one or more chromosomes to be tested for aneuploidy;c. detecting the amplified target nucleic acids from the test sample and from the reference sample;d. quantifying the detected amplified target nucleic acids from the test sample and from the reference sample;e. analyzing the test sample for the presence or absence of a fetal aneuploidy by comparing the quantity of the detected amplified target nucleic acids obtained from the test sample for the one or more chromosomes tested for aneuploidy to the quantity of the detected amplified target nucleic acids obtained from the reference sample for the one or more chromosomes tested for aneuploidy; andf. generating a report on the presence or absence of aneuploidy in the maternal blood sample.59. The method of claim 58 , wherein the target nucleic acids are selected from one or more of chromosomes X claim 58 , Y claim 58 , 13 claim 58 , 18 claim 58 , and 21.60. The method of claim 58 , wherein the target nucleic acid sequences are quantified by chromatography ...

SYSTEMS AND METHODS FOR ENHANCED SCODA

Methods and apparatus for separating, concentrating and/or detecting molecules based on differences in binding affinity to a probe are provided. The molecules may be differentially modified. The molecules may be differentially methylated nucleic acids. The methods can be used in fields such as epigenetics or oncology to selectively concentrate or detect the presence of specific biomolecules or differentially modified biomolecules, to provide diagnostics for disorders such as fetal genetic disorders, to detect biomarkers in cancer, organ failure, disease states, infection or the like. 1. A method for concentrating a molecule of interest from a biological sample , the method comprising the steps of:loading the sample on an affinity matrix comprising an immobilized affinity agent that has a first binding affinity for the molecule of interest and a second binding affinity for at least some of the other molecules in the biological sample, wherein the first binding affinity is higher than the second binding affinity; andconducting affinity SCODA to selectively concentrate the molecule of interest into a focus spot, wherein the concentration of the molecule of interest in the focus spot is increased relative to the concentration of the other molecules in the biological sample, and wherein the molecule of interest comprises a first molecule that is differentially modified as compared with a second molecule in the biological sample comprising the same sequence as the first molecule.2. A method as defined in claim 1 , wherein the molecule of interest comprises a biomarker.3. A method as defined in comprising detecting the presence of the biomarker in the focus spot by using PCR claim 2 , DNA sequencing claim 2 , digital PCR claim 2 , or fluorescence detection.4. (canceled)5. A method as defined in claim 1 , wherein the molecule of interest comprises a first molecule that is differentially methylated as compared with a second molecule in the biological sample.6. A method as ...

MEANS AND METHODS FOR NON-INVASIVE DIAGNOSIS OF CHROMOSOMAL ANEUPLOIDY

The invention relates to a prenatal diagnostic method for the determination of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant woman, which method comprises enrichment and quantification of selected cell-free deoxyribonucleic acid sequences showing consensus nucleosome binding regions. 114.-. (canceled)15. A method for determining a chromosomal aberration in a biological sample obtained from an individual , wherein the biological sample includes nucleic acid molecules , the method comprising:(a) selecting for and isolating from the biological sample of an individual one or more target sequences of DNA molecules present in the biological sample, wherein the target sequences comprise DNA sequences leaving consensus nucleosome binding regions;(b) amplifying the selected target sequences;(c) sequencing the amplified selected target sequences and allotting them to the chromosomes of the genome and identifying the unique allotted target sequences;(d) determining a first amount for each of one or more first chromosomes identified on the basis of the unique allotted target sequences originating from the one or more first chromosomes;(e) determining a second amount for each of one or more second chromosomes identified on the basis of the unique allotted target sequences originating from the one or more second chromosomes; and(f) determining based on the first and second amounts a chromosomal abberation.16. The method of claim 15 , wherein step (f) further comprises:(i) determining a parameter from the first amount relative to the second amount;(ii) comparing the parameter to a corresponding cut off control value; and(iii) based upon the comparison in (ii), determining whether or not there is a difference allowing for the prediction of a chromosomal aberration in one or more of the first chromosomes.17. The method of claim 15 , wherein the chromosomal aberration is indicative of a predisposition for cancer.18. The method of claim 15 , wherein ...

Processes and Compositions for Methylation-Based Enrichment of Fetal Nucleic Acid From a Maternal Sample Useful for Non-Invasive Prenatal Diagnoses

Provided are compositions and processes that utilize genomic regions differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies. 1. A method for determining the amount of fetal nucleic acid of a target chromosome comprising:a) contacting nucleic acid from a pregnant female, which nucleic acid comprises differentially methylated fetal nucleic acid and maternal nucleic acid, with an agent that specifically binds methylated nucleotides; thereby producing bound nucleic acid;b) isolating the bound nucleic acid of (a), thereby enriching the fetal nucleic acid; andc) determining from the products of (b) the amount of fetal nucleic acid for a plurality of loci of a target chromosome comprising at least one locus selected from loci of SEQ ID NOs: 1-59 or portions thereof.2. The method of claim 1 , wherein the agent that binds methylated nucleotides is a methyl-CpG binding protein (MBD) or fragment thereof.3. The method of claim 2 , wherein the MBD or fragment thereof is fused to an Fc fragment of an antibody.4. The method of claim 1 , wherein the agent that binds methylated nucleotides is a methylation specific antibody.5. The method of claim 1 , wherein determining the amount of fetal nucleic acid comprises use of a sequencing method.6. The method of claim 1 , wherein the plurality of loci of a target chromosome comprises the locus of SEQ ID No. 33 or a portion thereof.7. The method of claim 1 , wherein the amount of fetal nucleic acid of a target chromosome is indicative of a fetal aneuploidy claim 1 , the amount of fetal nucleic acid from a reference chromosome is determined and the presence or absence of a fetal aneuploidy is determined by comparing the amount of fetal nucleic acid from the target chromosome and the reference chromosome.8. The method of ...

PLACENTAL PROTEIN BIOMARKERS FOR GESTATIONAL AGE ASSESSMENT AND RELATED METHODS

Provided herein are methods, systems and kits for detection of certain placental proteins, such as PAPP-A and ADAM-12, for example, in a serum sample from an individual to classify gestational ages above and below a specific threshold, such as for use in determining for use in determining gestational age for making clinical or personal decisions without ultrasound. 14-. (canceled)5. A method for performing a prenatal care or prenatal clinical treatment on a pregnant subject , the method comprising performing a prenatal care or prenatal clinical treatment on a pregnant subject selected as eligible for the prenatal care or prenatal clinical treatment , wherein the pregnant subject is selected as eligible for the prenatal care or prenatal clinical treatment if the classified gestational age of the pregnancy is less than a predetermined GA cutpoint , wherein:the predetermined GA cutpoint is a timepoint between at or about 5 weeks and at or about 40 weeks;the gestational age of the pregnancy is determined to be less than the predetermined GA cutpoint if the measured concentration of each of one or more placental proteins from a sample from the pregnant subject is lower than a predetermined threshold level for each of the one or more placental proteins;the sample is a whole blood or serum sample;the gestational age of the pregnancy is determined to be greater than or equal to the predetermined GA cutpoint if the concentration of any of the one or more placental proteins from the sample is higher than or equal to the predetermined threshold level;the predetermined threshold level for each of the one or more placental proteins is for a predetermined GA cutpoint; andthe one or more placental proteins are selected from ADAM-12, PAPP-A, PSG1, and HPL.6. The method of claim 5 , wherein the concentration of each of the one or more placental proteins is measured by an immunoassay.711-. (canceled)12. The method of claim 5 , wherein the one or more placental proteins is ADAM-12.13. ...

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

Rare cell analysis using sample splitting and dna tags

Described herein are methods to diagnose or prognose cancer in a subject by enriching, detecting, and analyzing individual rare cells, e.g., epithelial cells, in a sample from the subject. Also described are methods for labeling regions of genomic DNA in individual cells in said mixed sample with different labels wherein each label is specific to each cell and quantifying the labeled regions of genomic DNA from each cell in the mixed sample. More particularly the method includes detecting the presence of gene mutations in individual rare cells in a subsample.

分离、检测和分析胎儿细胞的组合物和方法

提供了用于分离、检测和分析胎儿细胞的组合物、试剂盒和方法。本文还提供了用于制备胎儿细胞样品和用于进行胎儿遗传测试的方法。所述组合物、试剂盒和方法能够包含或使用抗TREML2抗体。可替代地或另外地，所述组合物、试剂盒和方法包含或使用与胶体磁性颗粒和/或外源性聚集增强因子缀合的抗体。

Processes and compositions for methylation-based enrichment of fetal nucleic acid from maternal sample useful for non invasive prenatal diagnoses

【課題】非侵襲的出生前診断に有用な母体試料由来の胎児核酸のメチル化に基づく富化のためのプロセスおよび組成物の提供。 【解決手段】母体試料から胎児核酸を分離、単離または富化するために、母親とその胎児との間で示差的にメチル化されているゲノム領域を利用する組成物およびプロセスが提供される。本明細書に記載の組成物およびプロセスは、染色体の異数性を検出することを含めた、非侵襲的な出生前診断のために特に有用である。本発明は、とりわけ、これらに限定されないが、胎児核酸の存在または非存在、胎児核酸の絶対量または相対量、胎児の性別、および異数性などの胎児の染色体異常を含めた胎児の遺伝形質を非侵襲的に検出するために有用なヒトの後成的なバイオマーカーを提供する。 【選択図】なし

Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

提供利用在母体及其胎儿之间差异甲基化的基因组区以从母体样品分开、分离或富集胎儿核酸的组合物与方法。本文所述组合物与方法对于包括检查染色体非整倍性在内的无创性产前诊断特别有用。

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

Processes and compositions for enrichment based on methylation of fetal nucleic acids from maternal samples useful for non-invasive prenatal diagnosis

Processes for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses

Processes and compositions for fetal nucleic acid-based enrichment of a maternal sample useful for non-invasive prenatal diagnoses

Un método para determinar la cantidad de ácido nucleico fetal en una muestra que comprende: a) poner en contacto ácido nucleico presente en una muestra de una mujer embarazada, muestra que comprende ácido nucleico fetal y ácido nucleico materno diferencialmente metilado, la combinación del ácido nucleico fetal y ácido nucleico materno comprende el ácido nucleico total en la muestra, con un reactivo que digiere específicamente ácido nucleico no metilado, enriqueciendo de esta manera el ácido nucleico fetal; y b) determinar la cantidad de ácido nucleico fetal en la muestra en una reacción multiplex mediante (i) análisis de la cantidad de ácido nucleico fetal en una pluralidad de loci seleccionados de los loci de SEQ ID NO: 90- 163, 176, 179, 180, 184, 188, 189, 190, 191, 193, 195, 198, 199, 200, 201, 202, 203, 205, 206, 207, 208, 209, 210, 211, 212, 213, 214, 221, 223, 225, 226, 231, 232, 233, 235, 239, 241, 257, 258, 259, y 261, (ii) determinar la cantidad de ácido nucleico total, (iii) determinar la cantidad de ácido nucleico del cromosoma y, si está presente, y (iv) determinar la eficacia de digestión del reactivo. A method for determining the amount of fetal nucleic acid in a sample comprising: a) contacting nucleic acid present in a sample of a pregnant woman, sample comprising differentially methylated fetal nucleic acid and maternal nucleic acid, the combination of nucleic acid Fetal and maternal nucleic acid comprises the total nucleic acid in the sample, with a reagent that specifically digests unmethylated nucleic acid, thereby enriching the fetal nucleic acid; and b) determining the amount of fetal nucleic acid in the sample in a multiplex reaction by (i) analyzing the amount of fetal nucleic acid in a plurality of loci selected from the loci of SEQ ID NO: 90-163, 176, 179, 180, 184, 188, 189, 190, 191, 193, 195, 198, 199, 200, 201, 202, 203, 205, 206, 207, 208, 209, 210, 211, 212, 213, 214, 221, 223, 225, 226, 231, 232, 233, 235, 239, 241, 257, 258, 259, ...

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies.

Process and composition for methylation based enrichment of fetal nucleic acid from maternal sample useful for non-invasive prenatal diagnosis

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses

Diagnosis of fetal aneuploidy

The invention relates to a method for the early non-invasive diagnosis of fetal aneuploidy. In particular, the invention concerns the diagnosis of fetal aneuploidy by identifying protein expression patterns characteristics of fetal aneuploidy in a maternal biological fluid, such as maternal serum or amniotic fluid.

Methods for the diagnosis of fetal disease

Methods are provided for detecting an aneuploidy in a fetus. These methods can be used to detect trisomy 13, 8 or 21, amongst other aneupoloidies. In some embodiments, the methods include selectively purifying fetal DNA from a maternal biological sample using the methylation status of a CpG containing genomic sequence and genotyping the fetus using the purified fetal DNA, thereby detecting aneuploidy in the fetus.

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

Processes and compositions for methylation-based enrichment of fetal nucleic acid from maternal sample useful for non invasive prenatal diagnoses

【課題】非侵襲的出生前診断に有用な母体試料由来の胎児核酸のメチル化に基づく富化のためのプロセスおよび組成物の提供。【解決手段】母体試料から胎児核酸を分離、単離または富化するために、母親とその胎児との間で示差的にメチル化されているゲノム領域を利用する組成物およびプロセスが提供される。本明細書に記載の組成物およびプロセスは、染色体の異数性を検出することを含めた、非侵襲的な出生前診断のために特に有用である。本発明は、とりわけ、これらに限定されないが、胎児核酸の存在または非存在、胎児核酸の絶対量または相対量、胎児の性別、および異数性などの胎児の染色体異常を含めた胎児の遺伝形質を非侵襲的に検出するために有用なヒトの後成的なバイオマーカーを提供する。【選択図】なし

Methods of detecting aneuploidy in human embryos

Methods, compositions and kits for determining the developmental potential of one or more embryos or pluripotent cells and/or the presence of chromosomal abnormalities in one or more embryos or pluripotent cells are provided. These methods, compositions and kits find use in identifying embryos and oocytes in vitro that are most useful in treating infertility in humans.

Method and apparatus for predicting the presence of an abnormal level of one or more proteins in the clotting cascade

A method is disclosed for predicting the presence of an abnormal level of one or more proteins in the clotting cascade from at least one time-dependent measurement profile. At least one time-dependent measurement on an unknown sample is performed and a respective property of said sample is measured over time so as to derive a time-dependent measurement profile. A set of a plurality of predictor variables are defined which sufficiently define the data of the time-dependent measurement profile. A model is then derived that represents the relationship between the abnormality and the set of predictor variables. Subsequently, the model is utilized to predict which protein or proteins in the clotting cascade are at an abnormal level, with the prediction being a more informative prediction than clot time alone.

Adam12, a novel marker for abnormal cell function

The present invention provides a method, an assay and a kit for proving an indication of abnormal cell function. It was surprisingly found that the change in the serum ADAM12 concentration in individuals was useful as a prognostic tool to predict the clinical outcome, complications and mortality following an abnormal cell function. The present inventors describes ADAM12 as a overall general marker for abnormal cell function, and the present inventor for the first time demonstrate that ADAM12 is an important indicator of fetal chromosomal disease and placenta function. Specifically ADAM12 is a good marker for e.g. Downs's syndrome, trisomy 18, preeclampsia, Turner syndrome in both first and second trimester. The present inventors developed an enzyme-linked immunosorbent assay (ELISA) and a time-resolved immunofluorometric assay for the quantification of ADAM12 in serum.

ADAM12, a novel marker for abnormal cell function

The present invention provides a method, an assay and a kit for providing an indication of abnormal cell function. It was surprisingly found that the change in the serum ADAM12 concentration in individuals was useful as a prognostic tool to predict the clinical outcome, complications and mortality following an abnormal cell function. The present inventors describes ADAM12 as a overall general marker for abnormal cell function, and the present inventor for the first time demonstrate that ADAM12 is an important indicator of fetal chromosomal disease and placenta function. Specifically ADAM12 is a good marker for e.g. Downs's syndrome, trisomy 18, preeclampsia, Turner syndrome in both first and second trimester. The present inventors developed an enzyme-linked immunosorbent assay (ELISA) and a time-resolved immunofluorometric assay for the quantification of ADAM12 in serum. The present application demonstrates in several examples the variation of the ADAM12 level in fetal abnormality and/or adverse pregnancy outcomes correlated gestational age when compared to normal controls. It is an object of the invention to provide an improvement of the existing marker tests that exhibits a decreased false positive rate.

Adam12 as marker for fetal Turner Syndrome

The present invention provides a method and an assay for providing an indication of fetal Tuner Syndrome.. The present inventors for the first time demonstrate that ADAM12 is an important indicator of fetal chromosomal disease and placenta function. Specifically ADAM12 is a good marker for e.g. Downs's syndrome, trisomy 18, preeclampsia, Turner syndrome in both first and second trimester. It is an object of the invention to provide an improvement of the existing marker tests that exhibits a decreased false positive rate.

Methods of detecting aneuploidy in human embryos

本发明提供了用于确定一个或多个胚胎或多潜能细胞的发育潜力和/或一个或多个胚胎或多潜能细胞中存在染色体异常的方法、组合物和试剂盒。这些方法、组合物和试剂盒在体外确定在人类中治疗不育症中最有用的胚胎和卵母细胞中有用。

Compositions and methods for isolation, detection and analysis of fetal cells

태아 세포의 단리, 검출 및 분석을 위한 조성물, 키트 및 방법을 제공한다. 태아 세포 샘플의 제조 및 태아 유전자 검사의 수행을 위한 방법을 또한 본원에 제공한다. 상기 조성물, 키트 및 방법은 항-TREML2 항체를 포함하거나 사용할 수 있다. 대안적으로, 또는 추가로, 상기 조성물, 키트 및 방법은 콜로이드성 자성 입자 및/또는 외인성 응집 증대 인자에 접합된 항체를 포함하거나 사용한다.

Means and methods for non-invasive diagnosis of chromosomal aneuploidy

The invention relates to a prenatal diagnostic method for the determination of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant woman, which method comprises enrichment and quantification of selected cell-free deoxyribonucleic acid sequences showing consensus nucleosome binding regions.

A method and apparatus for predicting the presence of congenital and acquired imbalances and therapeutic conditions

A method and apparatus are disclosed for predicting the presence of at least one congenital or acquired imbalance or therapeutic condition associated with thrombosis/hemostasis from at least one time-dependent measurement profile, (Figs. 3-6). At least one time-dependent measurement on an unknown sample is performed and a respective property of said sample is measured over time so as to derive a time-dependent measurement profile, (Figs. 3-6). A set of a plurality of predictor variables are defined which sufficiently define the data of the time-dependent measurement profile, (Fig. 13). A model is then derived that represents the relationship between the congenital or acquired imbalance or therapeutic condition and the set of predictor variables. Subsequently, the model is utilized to predict the existence of the congenital or acquired imbalance or therapeutic condition in the unknown sample.

Diagnosis of fetal abnormalities using nucleated red blood cells

The present invention relates to methods for diagnosing a condition in a fetus by enriching and enumerating circulating red blood cells with the possible combination of results from maternal serum marker screens.

Methods and apparatus for predicting the presence of congenital and acquired imbalances and treatment conditions

본 발명에서는 하나 이상의 시간-의존 측정 프로파일(도 3-도6)로부터 혈전증/지혈 연관 선천성 또는 후천성 불균형 또는 치료 상태의 존재를 예측하기 위한 방법과 장치가 개시된다. 미지 샘플에 대한 하나 이상의 시간-의존 측정이 수행되고 시간-의존 측정 프로파일을 유도하기 위해 상기 샘플의 각 특성이 시간에 걸쳐 측정된다(도 3-도6). 시간-의존 측정 프로파일의 자료를 충분히 정의할 다수의 예측 변수 세트가 정의된다(도 13). 이어서 선천성 또는 후천성 불균형 또는 치료 상태와 예측 변수 세트 사이의 관계를 나타낼 모델이 유도된다. 이어서, 모델은 미지 샘플에서 선천성 또는 후천성 불균형 또는 치료 상태의 존재를 예측하기 위해 이용된다. The present invention discloses methods and apparatus for predicting the presence of a thrombosis / hemostatic innate or acquired imbalance or treatment state from one or more time-dependent measurement profiles (FIGS. 3--6). One or more time-dependent measurements on unknown samples are performed and each characteristic of the sample is measured over time to derive a time-dependent measurement profile (Figures 3-6). Multiple sets of predictors are defined to fully define the data of the time-dependent measurement profile (FIG. 13). A model is then derived to represent the relationship between the congenital or acquired imbalance or treatment state and the set of predictors. The model is then used to predict the presence of congenital or acquired imbalances or therapeutic conditions in the unknown sample.

Methods of detecting aneuploidy in human embryos

Methods, compositions and kits for determining the developmental potential of one or more embryos or pluripotent cells and/or the presence of chromosomal abnormalities in one or more embryos or pluripotent cells are provided. These methods, compositions and kits find use in identifying embryos and oocytes in vitro that are most useful in treating infertility in humans.

Method and apparatus for predicting the presence of an abnormal level of one or more proteins in the clotting cascade

A method is disclosed for predicting the presence of an abnormal level of one or more proteins in the clotting cascade from at least one time-dependent measurement profile. At least one time-dependent measurement on an unknown sample is performed and a respective property of said sample is measured over time so as to derive a time-dependent measurement profile. A set of a plurality of predictor variables are defined which sufficiently define the data of the time-dependent measurement profile. A model is then derived that represents the relationship between the abnormality and the set of predictor variables. Subsequently, the model is utilized to predict which protein or proteins in the clotting cascade are at an abnormal level, with the prediction being a better prediction than clot time alone.

A method and apparatus for predicting the presence of congenital and acquired imbalances and therapeutic conditions

ADAM12, a novel marker for abnormal cell function

本发明提供了用于指示提供细胞功能异常的方法，分析法和试剂盒，令人惊奇地发现，血清ADAM12浓度变化作为预测细胞功能异常带来的临床结果、并发症和死亡率的预后工具是有用的。本发明人描述了作为细胞功能异常全面标记物的ADAM12，同时本发明人第一次证明了，ADAM12是胚胎和胎盘发育、功能的重要指示剂，并且ADAM12可以反映疾病的存在，分类或进展。本发明人开发了一种酶联免疫吸附分析法(ELISA)和一种时间分辨荧光免疫分析法，用于量化血清中的ADAM12。

ADAM12, a novel marker for abnormal cell function

本发明提供了用于指示提供细胞功能异常的方法，分析法和试剂盒。令人惊奇地发现，血清ADA M12浓度变化作为预测细胞功能异常带来的临床结果、并发症和死亡率的预后工具是有用的。本发明人描述了作为细胞功能异常全面标记物的ADAM12，同时本发明人第一次证明了，ADAM12是胚胎和胎盘发育、功能的重要指示剂，并且ADAM12可以反映疾病的存在，分类或进展。本发明人开发了一种酶联免疫吸附分析法(ELISA)和一种时间分辨荧光免疫分析法，用于量化血清中的ADAM12。

Method for detecting and quantitating multiple subcellular components

A method for detecting and quantitating multiple and unique fluorescent signals from a cell sample is provided. The method combines immunohistochemistry and a fluorescent-labeled in situ hybridization techniques. The method is useful for identifying specific subcellular components of cells such as chromosomes and proteins.

Methods of detecting aneuploidy in human embryos

Measurement of cellular fmrp levels for high throughput drug screening and diagnosis of fragile x syndrome

Kits and methods for the measurement of the FMR1 gene product, FMRP, are disclosed. The present kits include highly selective fluorophore-labeled antibodies that enable Förster (Fluorescence) resonance energy transfer (FRET) assays for the quantification of FMRP, which can in turn be used in methods for treating patients with underlying CCG-repeat mutations and for screening therapeutic moieties.

E3 ubiquitin ligase (ube3a) protein targets

The invention relates to UBE3A protein targets and their usage as target engagement biomarkers for compounds that modulate ube3a expression.

Methods of detecting aneuploidy in human embryos

Adam12 as marker for fetal Turner Syndrome

Detection of oligosaccharides

Provided herein are processes for detecting oligosaccharides in a biological sample. In specific instances, the biological sample is provided from an individual suffering from a disorder associated with abnormal glycosaminoglycan accumulation.

PRENATAL SCREENING

Изобретение касается способа скрининга образцов материнской мочи относительно изменений в паттернах масс-спектральных отпечатков пальцев, которые, как было обнаружено, являются характеристичными для фетальных анеуплоидий, таких как синдром Дауна, и применяются для скрининга других внутриутробных пороков развития и патологий беременности, включая гестационные трофобластическые болезни.

Non-invasive method for prenatal diagnosis

Método para el aislamiento de eritroblastos fetales intactos a partir de una muestra de sangre periférica de una mujer embarazada, que comprende las etapas de: a. aplicar un flujo laminar mediante el fraccionamiento por campo gravitatorio y flujo (GrFFF) a la muestra de sangre que contiene los eritroblastos fetales intactos, y b. aislar los eritroblastos fetales intactos de los otros componentes de la sangre. Method for the isolation of intact fetal erythroblasts from a peripheral blood sample of a pregnant woman, comprising the stages of: a. apply a laminar flow by gravitational field fractionation and flow (GrFFF) to the blood sample containing intact fetal erythroblasts, and b. isolate intact fetal erythroblasts from the other components of the blood.

Dna encoding polypeptide capable of modulating muscle-specific tyrosine kinase activity

Disclosed are DNA encoding a polypeptide which can modulate the activity of a muscle-specific tyrosine kinase, and others. The DNA is selected from the following members (a) to (d): (a) DNA comprising a specific nucleotide sequence; (b) DNA comprising a nucleotide sequence capable of hybridizing with a specific nucleotide sequence under stringent conditions; (c) DNA comprising a nucleotide sequence encoding an amino acid sequence having the substitution, deletion and/or addition of one or several amino acid residues in a specific amino acid sequence; and (d) DNA comprising a nucleotide sequence having 90% or higher homology to a specific nucleotide sequence.

Non invasive method for prenatal diagnosis

The invention pertains to a method which allows separation of nucleated fetal cells, particularly fetal erythroblasts, from maternal peripheral blood. More specifically the invention relates to a non-invasive method which can isolate and provide intact nucleated fetal cells, and is useful for subsequent chromosome, gene expression and protein investigations, and is feasible at all gestational ages.

Variants of C-Type Natriuretic Peptide

The present disclosure provides variants of C-type natriuretic peptide (CNP), pharmaceutical compositions comprising CNP variants, and methods of making CNP variants. The CNP variants are useful as therapeutic agents for the treatment of diseases responsive to CNP, including but not limited to bone-related disorders, such as skeletal dysplasias (e.g., achondroplasia), and vascular smooth muscle disorders (e.g., restenosis and arteriosclerosis).

Variants of C-type natriuretic peptide

The present disclosure provides variants of C-type natriuretic peptide (CNP), pharmaceutical compositions comprising CNP variants, and methods of making CNP variants. The CNP variants are useful as therapeutic agents for the treatment of diseases responsive to CNP, including but not limited to bone-related disorders, such as skeletal dysplasias (e.g., achondroplasia), and vascular smooth muscle disorders (e.g., restenosis and arteriosclerosis).

Embryo quality assessment based on blastomere division and movement

The invention concerns a system and method for determining embryo quality comprising monitoring the embryo for a time period, said time period having a length sufficient to comprise at least one cell division period and at least a part of an inter-division period, and determining the length of the at least one cell division period; and/or ii) determining the extent and/or spatial distribution of cellular or organelle movement during the cell division period; and/or iii) determining duration of an inter-division period; and/or iv) determining the extent and/or spatial distribution of cellular or organelle movement during the inter-division period thereby obtaining an embryo quality measure. Thus, the selection of optimal embryos to be implanted after in vitro fertilization (IVF) is facilitated based on the timing, duration, spatial distribution, and extent of observed cell divisions and associated cellular and organelle movement.

METHOD FOR DIAGNOSIS OF DISORDER MPS IIIB

Παρεχόμενες στο παρόν είναι μέθοδοι για ανίχνευση ολιγοσακχαριδίων σε ένα βιολογικό δείγμα. Σε ειδικές περιπτώσεις, το βιολογικό δείγμα παρέχεται από ένα άτομο που υποφέρει από μία διαταραχή που συνδυάζεται με μη κανονική συσσώρευση γλυκοζαμινογλυκάνης.