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Knome Awards Human Exome Sequencing and Analysis to Biomedical Researchers
Date:10/5/2010

CAMBRIDGE, Mass., Oct. 5 /PRNewswire/ -- Knome, Inc. today announced the winners of its inaugural KnomeDISCOVERY Awards, a program designed to spur new genetic insights into health. Researchers Judith Conroy (University College Dublin, Ireland), Eitan Friedman (Sheba Medical Center, Israel), and Abhimanyu Garg (University of Texas-Southwestern Medical Center, USA) have been awarded KnomeDISCOVERY™ exome sequencing and comparative analysis packages.  Each winner will use Knome's integrated sequencing and analysis service to compare the protein-coding genes of two strategically chosen people in order to answer an important question about human health and physiology.

"We received entries from researchers all over the world, reflecting a global groundswell of interest in exome-based research," said George Church, co-founder of Knome and chair of the KnomeDISCOVERY Awards selection committee. "The proposals targeted a variety of creative and compelling research questions.  Our winners represent three outstanding applications of comparative exome analysis. Each will leverage Knome's research-supportive service to identify key similarities and differences between two people's complete sets of genes, spotlighting distinctive DNA spellings that help explain why some people develop a disease or other important phenotype."

Casting new light on aging and fat metabolism

Abhimanyu Garg, MD, is Chief of the Division of Nutrition and Metabolic Diseases at UT Southwestern Medical Center, and a leading expert on neonatal progeroid syndrome (NPS), a debilitating disease in which children appear to age quickly and cannot store enough fat to stay healthy.  In his research, Dr. Garg has documented several subtypes of NP, and hopes to trace their causes to specific genetic variants.

"Exome analysis is a boon to clinical researchers like
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SOURCE Knome, Inc.
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