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

me, letting us look at all protein-coding genes in one go so that we can better understand puzzling diseases like NPS," Dr. Garg noted, adding that, "Knome will help me quickly accomplish what before would have taken years of costly effort."

Using KnomeDISCOVERY™, Dr. Garg will thoroughly survey two patients' genes, in order to identify distinctive or shared DNA spellings that cause NP.  Ultimately, his findings may help physicians treat NP more effectively and may also cast new light on questions of broad public interest: how we age, and how our bodies process fat.

"Though rare, Progeria holds clues to health concerns that are important not just for people with the disease, but for many others as well – including people suffering from cardiovascular disease. Exome analysis can help find the genes that influence disease severity in Progeria," said Leslie Gordon, MD, PhD, medical director of The Progeria Research Foundation. "Such understanding may allow earlier disease detection, and help prevent or ease debilitating symptoms."

Breast cancer in families: beyond the usual suspects

Breast cancer kills more women than any cancer except lung cancer.  Public understanding of breast cancer risk has grown, thanks largely to discoveries that women who carry certain DNA spelling variants in the BRCA1 and BRCA2 genes tend to get the disease.  These genes, however, account for only a small percentage of all breast cancer cases – most cases remain unexplained.  

In his work at Sheba Medical Center, Eitan Friedman, MD, PhD studies families with heritable forms of breast cancer who carry 'normal' versions of BRCA1, BRCA2 and other well known culprit genes. Using Knome's exome sequencing and comparative analysis, Dr. Friedman aims to find the genetic basis of cancer susceptibility in two su
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