Cedars-sinai Medical Center

Baylor College of Medicine

Other

Ionis Pharmaceuticals, Inc.

Arthur L Beaudet

Stephan R Targan

Jerome I Rotter

Huiying Yang

Devendra Vora

Frank Rigo

Allan Bradley

Amanda Ward

Linyan Meng

Maria Mercedes Lovell

Ann Killary

Olaf Bodamer

James Sligh

Christie Ballantyne

Daniel Bullard

William E O'Brien

Raymond Wilson

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.

Modulation of UBE3A-ATS expression

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.

Methods of screening for ulcerative colitis and crohn's disease

The present invention relates to a method for detection and interpretation of loss-of-function or gain-of-function mutations for test genes of interest. The genes of interest include those associated with inherited genetic disorders. The present invention involves the process of obtaining a sample of genetic material from an individual in the form of tissue or cells, separation of the genetic material from the cells of the individuals into haploid sets by transferring the individual chromosomal entities into a population of target cells, and monitoring the target cell population for successful transfer and expression of the test genes of interest using various functional, immunological and structural assays.

Method of detection and interpretation of mutations through expression or function tests of haploid genes

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.

Methods of screening for ulcerative colitis and Crohn's disease

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.

Methods of diagnosing ulcerative colitis and Crohn's disease

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.

Non-human animal having predefined allele of a cellular adhesion gene

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Houston, TX, United States of America

Arthur L Beaudet