Unraveling the mysteries of noncoding and coding risk variants identified through pancreatic cancer GWAS
BMC Seminar Thursday 29 April, 12:00
Speaker: Dr. Laufey Ámundadóttir, Senior Investigator in the Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health.
Title: Unraveling the mysteries of noncoding and coding risk variants identified through pancreatic cancer GWAS
Abstract: Pancreatic cancer is currently the third leading cause of cancer deaths in the U.S., and the seventh worldwide. Genome wide association studies (GWAS) have mapped multiple loci that influence risk of pancreatic cancer. Most of these are believed to influence noncoding gene regulatory elements in an allele specific manner, and lead to expression differences at nearby or distant genes. However, a handful of GWAS loci in other common diseases have been shown to influence gene structure in a more direct manner. This seminar will describe genomic and molecular biology approaches that have led to the identification of functional variants at pancreatic cancer risk loci that influence gene expression regulation, and an example of a risk locus that affects the coding region of a gene and protein structure and function.
Biography: Dr. Amundadottir received a Ph.D. in Cell Biology in 1995 from Georgetown University in Washington, D.C., and performed her postdoctoral training in the Department of Genetics at Harvard Medical School in Boston, MA. She joined deCODE genetics in Iceland in 1998 as the head of the Division of Cancer Genetics where she led genome wide linkage and association efforts in various cancers. Dr. Amundadottir joined the NCI in 2007 as a senior scientist, became a Tenure Track investigator in the Laboratory of Translational Genomics in 2008, and was promoted to Senior Investigator in 2017. Her current work focuses on genome wide association studies and related gene mapping approaches, as well as genomic and functional characterization of risk loci to understand how common germline variation plays a role in the development of pancreatic cancer.