Abstract: This disclosure generally relates to isolation of fetal cells from biological samples. Methods of using the enriched fetal cells for detecting genetic or epigenetic abnormalities or variations are also provided herein.

Abstract: Embodiments of the disclosure include methods of prenatal testing using non-invasive means that identify single gene disorders. In specific embodiments the methods are non-invasive and employ tagging circulating cell-free fetal DNA from the biological mother with particular adaptors that employ unique barcodes, followed by steps to enrich targets and steps for thorough sequencing.

Abstract: Certain embodiments are directed to methods and compounds for inhibiting UBE3A-ATS, the endogenous antisense transcript of ubiquitin protein ligase E3A (UBE3A). Such methods and compounds are useful for inducing expression of paternal UBE3A in cells and animals.

Abstract: Certain embodiments are directed to methods and compounds for inhibiting UBE3A-ATS, the endogenous antisense transcript of ubiquitin protein ligase E3A (UBE3A). Such methods and compounds are useful for inducing expression of paternal UBE3A in cells and animals.

Abstract: Embodiments of the invention include determining whether an individual has autism spectrum disorder or is at risk for developing autism spectrum disorder or at risk for regression of or into autism spectrum disorder. Specific embodiments include the determination of indicative levels of carnitine or other metabolites in carnitine biosynthesis and may include assaying for mutations in TMLHE, including in exon 2, for example. In some cases one can assay for mutations in TMLHE in the absence of biochemical analysis of carnitine biosynthesis metabolites. An individual with deficiency in TMLHE and/or carnitine levels may be administered carnitine, acetylcarnitine, butyrobetaine, or a combination thereof, for example.

Abstract: A novel association between IBD and a polymorphism at amino acid residue 241 of ICAM-1 has been discovered. In accordance with the present invention there is provided methods of screening for IBD, methods for treating IBD, antibodies specifically reactive with ICAM-1 encoded by, R241 allele and kits which exploit the inventive methods.

Abstract: A novel association between IBD and a polymorphism at amino acid residue 241 of ICAM-1 has been discovered. In accordance with the present invention there is provided methods of screening for IBD, methods for treating IBD, antibodies specifically reactive with ICAM-1 encoded by R241 allele and kits which exploit the inventive methods.

Abstract: A novel association between IBD and a polymorphism at amino acid residue 241 of ICAM-1 has been discovered. In accordance with the present invention there is provided methods of screening for IBD, methods for treating IBD, antibodies specifically reactive wish ICAM-1 encoded by R241 allele and kits which exploit the inventive methods.

Abstract: A transgenic mouse which contains a predefined, specific and desired alteration in at least one of its two chromosomal alleles of a cellular adhesion gene, such that at least one of these alleles contains a mutation which alters the expression of the allele.