About the Section

The Section of Genetic Medicine continues to shape the future of personalized medicine with successful research programs focused on the quantitative genetic and genomic science. The Section provides extremely valuable collaborations with investigators in the Department of Medicine who are seeking to develop new and more powerful ways to identify genetic risk factors for common, complex disorders with almost immediate clinical application.

The Section of Genetic Medicine conducts impactful investigations focused on quantitative genetics, systems biology and genomics, bioinformatics and computational biology. New in FY15 were two awards: a large federal grant awarded to Andrey Rzhetsky, PhD from the federal Defense Advanced Research Projects Agency to integrate machine reading of cancer literature to increase knowledge about cancer mechanisms and practical cancer therapies.

Several other high impact projects were ongoing in FY15. Robert Grossman, PhD efforts focused on the development and operation of an Open Genomics Data Commons (OGDC) as a result of a three year multi-million dollar grant from the NCI awarded last year, while Barbara Stranger,PhD investigative efforts centered on the NIH/ National Human Genome Research Institute cooperative agreement (UO1) to measure the levels of approximately 1500 cell signaling and transcription factor proteins in five unique tissues to pinpoint proteins and protein networks that underlie complex human traits and disease. The GTEx project, with one of the methodology development groups led by Dr. Nicolae, continued to generate new data for characterizing genetic variants implicated in transcriptome regulation, disease susceptibility and pharmacogenomics. Dr. Nicolae also furthered his genome-wide association studies of rare and low-frequency variants in asthma in ethnically diverse populations. Progress continued in the established Silvio O. Conte Center (Andrey Rzhetsky ,PhD - Director) where computational data-mining has been applied to understand the causes of neuropsychiatric disorders.

Section Highlights, Accomplishments and Discoveries

    • Demonstrated that RNA splicing is a primary link between genetic variation and disease ( Li, Gilad, et al, Science , 2016)
    • Developed multi-tissue imputation methods to impute gene expression in uncollected or inaccessible tissues to enhance the identification of biomarkers for complex diseases and traits and facilitate the development of precision medicine (Wang, Stranger, Im, Nicolae, et al, American Journal of Human Genetics, 2016)
    • Developed a gene based association method for known and new genes associated with disease traits and provided insights into the mechanism of these associations (Im et al, Nature Genetics, 2015)
    • Developed a new gene based association method for mapping traits using reference transcriptome data that detected known and new genes associated with disease traits and provided insights into the mechanism of these associations. (Im, Nicolae, GTEx Consortium, et al, Nature Genetics, 2015)