Recent Advancements in Genomics and Precision Medicine

Summary
Speaker – Dr. Shrikant Mane, Professor of Genetics and Executive Director, Yale Center for Genome Analysis and Keck Proteomics Laboratory, Yale University School of Medicine
Medium – English

Abstract
Genomics, particularly next-generation sequencing (NGS), is revolutionizing our understanding of the molecular basis of every area of human biology and is making a tremendous impact in understanding human health and disease. In recent years, there has been a gradual paradigm shift in traditional medicine caused by technological advancements and scientific discoveries. Traditional drug development, based on identifying therapies which target an entire population, has gradually shifted to targeted therapies aligned with patients’ distinct inherited traits, and is thus resulting in better clinical outcomes. My group was the first to initiate personalized medicine in 2005 and has heavily invested in building infrastructure and expertise since then to become a prominent leader in genomics and precision medicine. My group was also the first to develop exome sequencing technology using Roche/NimbleGen platform in 2009. This article also described the first use of next generation/exome sequencing for the clinical diagnostic application. Since then, exome sequencing is being used worldwide extensively for both research and diagnostic purpose.

Over the last six years, we have sequenced more than 75,000 exomes to identify disease causing variations from a wide variety of phenotypes that has broadened the understanding of underlying biology linking mutations to human phenotypes. We have exome sequenced more than 10,000 tumor/normal pairs and published several high-profile publications contributing significantly towards the clinical and precision medicine approaches. The presentation will focus on an overview of genomic technologies, biomarker discovery, and precision medicine efforts at Yale.

About the Speaker
Dr. Mane brings expertise for genomic and proteomic analyses using both microarray and high-throughput DNA sequencing technologies. He received his Ph.D. in Cancer Biology in 1985 and did his Postdoc at the Johns Hopkins University School of Medicine. He is the Director of the Yale Center for Genome Analysis (YCGA) Shared Resource and the Director of The Keck Biotechnology Resource Laboratory at Yale. He has published more than 125 articles, holds 2 patents, and has amassed over 25 years of research experience in both academic and private industry. He has attracted significant funding from NIH and other sources to maintain cutting edge genomic technologies at Yale. Currently, Dr. Mane is one of four PIs of the Yale Center for Mendelian Genomics established in 2012 through an $11.2 million-dollar grant from NHGRI. Besides directing the YCGA, he pursues research in the field of neuroscience. Dr. Mane has a demonstrated record of establishing a successful and productive genomic facility that has provided over 58,000 sequence analyses (library prep, sequencing and analyses) to 225 Yale and 124 non-Yale principal investigators from 72 national and 16 international institutions.