Other

The General Hospital Corporation

The Broad Institute, Inc.

Whitehead Institute for Biomedical Research

Instituto Carlos Slim De La Salud, A.c.

Ellipsis Biotherapeutics Corporation

Tufts University

Massachusetts General Hospital Corporation

Mark Daly

Thomas J Hudson

John Rioux

Eric Lander

Andreas Gnirke

Daniel Gaudet

Kathy Siminovitch

Brendan Blumenstiel

Steve Arsenault

Matthew Defelice

Andrew Kirby

Johanna M Seddon

The present invention features a highly sensitive assay for detecting frameshift mutations for high throughput use. Also provided herein are methods for diagnosing or determining a predisposition for developing medullary cystic kidney disease type 1 (MCKD1) in a subject by detecting a frameshift mutation in the GC-rich variable number of tandem repeats (VNTR) sequence of the mucin 1 gene (MUC-1).

Methods of diagnosing and treating medullary cystic kidney disease

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

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

Growing community of inventors

Arlington, MA, United States of America

Mark Daly