NIH has awarded six researchers an average total of $2.3 million each to accelerate genomics research over a five-year period.
The researchers received the inaugural Genomic Innovator Awards from the National Human Genome Institute.
Channabasavaiah Gurumurthy, of the University of Nebraska Medical Center; Eric Gamazon, of Vanderbilt University Medical Center; Jason Vassy, of Harvard Medical School; Luca Pinello, of Massachusetts General Hospital; Stacy Gray, of the City of Hope Comprehensive Cancer Center; and Timothy O’Connor, of University of Maryland-Baltimore will serve as principal investigators on the study.
Gurumurthy aims to develop technologies that will address common challenges relating to developing and breeding mouse models. Mouse models are essential for biomedical research, with about 70% of NIH grant applications relating to mouse studies. Given the frequent use of mouse models around the globe, addressing these challenges may have lasting impact on biomedical research.
Gamazon studies the genomic and environmental basis of observable physical characteristics, including hair and eye color, personality traits, and disease risk and resilience. Gamazon will develop computational tools for the analysis of all such observable characteristics relating to medical conditions. Specifically, he will develop methods to advance our understanding of the mechanisms through which genomic variation influences disease risk.
Vassy aims to develop and validate clinical polygenic risk scores for six common diseases: coronary artery disease, atrial fibrillation, type 2 diabetes mellitus, breast cancer, colorectal cancer and prostate cancer. These tests will then be used in clinical trials using point-of-care testing, which provides immediate results to patients where they are being cared for.
Pinello is interested in disease-associated variants that lie in regions of the genome that do not code for genes. Many of these regions regulate expression of genes and are called regulatory elements. Pinello’s team will develop approaches to discover and understand how these regulatory elements function and how mutations in these areas can contribute to disease.
Gray has previously shown that people are often unaware that their genome has been sequenced or understand the implications of their results. In addition, many physicians also do not understand the DNA-sequence information gathered. Gray is developing an interactive web-based, point-of-care tool for physicians and patients that will help providers and patients better understand their genomic information. The application will also facilitate the sharing of genomic information within families, ultimately leading to higher quality patient care.
O’Connor focuses on identifying genomic variants that exist in specific ancestry populations. His work aims to classify small segments of identity by descent using genomic variants and to use the data to investigate mutational rates across populations, including how these processes impact human health and disease.
