Penn Medicine Researchers and Collaborators from the Perelman School of Medicine at the University of Pennsylvania are part of a five-university collaboration receiving a $12.6 million, four-year grant from the National Institute on Aging (NIA), part of the National Institutes of Health (NIH), to identify rare genetic variants that may either protect against or contribute to Alzheimer’s disease risk. At Penn, the Consortium for Alzheimer’s Sequence Analysis (CASA) is led by Gerard D. Schellenberg, PhD, professor of Pathology and Laboratory Medicine. Other Penn investigators are Li-San Wang, PhD, professor of Pathology and Laboratory Medicine; Adam Naj, PhD, senior scholar, Center for Clinical Epidemiology and Biostatistics, and Nancy Zhang, PhD, professor of Statistics, Wharton School.

CASA investigators will analyze whole exome and whole genome sequence data generated during the first phase of the NIH Alzheimer’s Disease Sequencing Program, an innovative collaboration that began in 2012 between NIA and the National Human Genome Research Institute (NHGRI), also part of NIH. They will analyze data from 6,000 volunteers with Alzheimer’s disease and 5,000 older individuals who did not have the disease. In addition, they will study genomic data from 111 large families with multiple Alzheimer’s disease members, mostly of Caucasian and Caribbean Hispanic descent to identify rare genetic variants. 

“By identifying additional Alzheimer’s-related genes, the CASA team aims to find new therapeutic targets that will reduce the economic and human burden caused by this disease,” said Schellenberg. “This is an exciting opportunity to apply new technologies to improve our understanding of the biological pathways underlying this devastating disease.”

Read more in the Department of Communications news release.