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Whitehead Institute for Biomedical Research

Ellipsis Biotherapeutics Corporation

Thomas J Hudson

Daniel Gaudet

Mark Daly

Kenneth Morgan

Carl Brewer

John Rioux

Marie-Claude Vohl

James C Engert

Eric Lander

Kathy Siminovitch

Andrea Richter

Steve Arsenault

The invention provides nucleic acid segments of the human genome, particularly nucleic acid segments from a gene, including polymorphic sites. Allele-specific primers and probes hybridizing to regions flanking or containing these sites are also provided. The nucleic acids, primers and probes are used in applications such as phenotype correlations, forensics, paternity testing, medicine and genetic analysis.

Crohn's disease-related polymorphisms

Polymorphic nucleic acid molecules encoding the very low density lipoprotein receptor are described, as well as gene products encoded by these nucleic acid molecules. Allele-specific primers and probes hybridizing to regions flanking or containing these sites are also described, along with methods of use therefor.

Very low density lipoprotein receptor polymorphisms and uses therefor

Isolated spastin genes and fragments thereof, as well as Spastin proteins and fragments thereof are disclosed. Also disclosed are altered forms of spastin, as well as methods for the diagnosis and treatment of neurodegenerative disease.

Identification of arsacs mutations and methods of use therefor

Novel alterations in the glycerol kinase gene are described. Also described are methods of predicting or assisting in the prediction of impaired glucose tolerance and type 2 diabetes mellitus.

Glycerol as a predictor of glucose tolerance

The complete genomic structure of the peroxisome proliferator-activated receptor alpha gene is described. Also described are the identification of novel single nucleotide polymorphisms and association with higher plasma LDL-cholesterol and total and LDL-apolipoprotein B concentrations.

Peroxisome proliferator-activated receptor alpha and disorders of lipid metabolism

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Westmount, Canada

Thomas J Hudson