NIH Director Francis Collins wants people – the general public – to know that there are some seriously "creative minds" working to find innovative ways to use genomic information to assess disease risk and treat patients.
He took to his Director's Blog this week to highlight the research of two NIH-supported investigators who are at the forefront of applying genomic variants in understanding disease risk.
University of Washington Associate Professor Jay Shendure has "an audacious plan" for deciphering which variants may be involved in diseases, Collins writes.
Shendure, who has already done pioneering work on genome and exome sequencing and analysis, is now working with a multiplex approach to create all of the single letter variants of hundreds of major genes that are involved in rare disorders in the lab.
In this "extremely challenging project," Collins writes, Shendure "should be able to figure out which variations cause disease, which ones raise the risk, and which can be ignored."
Shendure first plans to tackle the BRCA1 and BRCA2 genes, which have many variations that may or may not be clinically significant.
"Health care professionals cannot offer guidance to people with such variations because their health consequences are unknown. Shendure’s analysis could provide much-needed information about which variants increase the risk of disease and which are benign," Collins says.
Collins also notes that fellow UW Assistant Professor Daniela Witten worked with Shendure to develop the Combined Annotation-Dependent Depletion (CADD) software, which uses various annotations from ENCODE data to estimate the potential pathogenicity of variants in the human genome.
Shendure was a recipient of the NIH Director's Pioneer's Award, and Witten received the NIH Directors Early Independence Award.