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Boston University researchers receive NIH funding for genetic research in Alzheimer's disease

Boston University School of Medicine (BUSM) received major funding from the National Institute on Aging (NIA) as part of a national effort to identify rare genetic variants that may protect against and contribute to Alzheimer's disease risk.

The four-year, $3 million grant, "Identifying Risk and Protective Variants for AD Exploring their Significance and Biology" is led by Sudha Seshadri, MD, professor of neurology at BUSM and a Senior Investigator at the Framingham Heart Study and for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. This project is linked to CHARGE projects at two other universities which all together received grants totaling more than $10 million. Other BU investigators who are part of the CHARGE project are Anita DeStefano, PhD, Adrienne Cupples, PhD, and Josee Dupuis, PhD, who are professors of biostatistics, and Honghuang Lin, PhD, assistant professor of medicine.

"As a neurologist treating patients with Alzheimer's disease, it is very exciting to see the increased recognition, at a national level, of the need to find more effective preventive and therapeutic measures," said Seshadri.

Alzheimer's disease, a progressive neurodegenerative disorder, has become an epidemic that currently affects 5.2 million people in the United States with economic costs that are higher than those of heart disease or cancer. Available drugs only marginally affect disease severity and progression. While there is no way to prevent this devastating disease, the discovery of genetic risk factors for Alzheimer's is bringing researchers closer to learning how the genes work together and to identifying the most effective intervention for the disease.

Genetics is a cornerstone of identifying targets for Alzheimer's disease therapies. This movement began in 2011, when President Barack Obama signed into law the National Alzheimer's Project Act (NAPA), mandating support for Alzheimer's research and health and long-term care services for affected individuals across all federal agencies. One of the first projects mandated by NAPA was the Alzheimer's Disease Sequencing Project (ADSP). With this funding, CHARGE becomes a member of the National Institute of Aging-mandated Sequence Analysis Consortium, which also includes three National Human Genome Research Institute (NHGRI) Large-Scale Sequencing Centers.

CHARGE investigators will analyze whole exome and whole genome sequence data generated from 6,000 subjects with Alzheimer's disease and 5,000 elderly individuals who do not have Alzheimer's disease. They also will study data from approximately 100 large families, mostly of Caribbean and Hispanic descent, that include multiple individuals with Alzheimer's disease to identify rare genetic variants that either protect against or cause Alzheimer's disease. They will also be contributing additional CHARGE data from over 11,000 subjects with information on genetic sequence and AD-related traits.

"AD currently has no effective treatment thus prevention is the primary strategy to combat this disease," said Boston University School of Medicine Dean Karen Antman, MD. "This is an exciting opportunity for our faculty to develop novel approaches that might ultimately delay or prevent AD."

CHARGE is a collaboration of an international group of investigators. Eric Boerwinkle, PhD at the University of Texas, Houston and Baylor College of Medicine and Ellen Wijsman, PhD at the University of Washington will lead other funded CHARGE projects. Cornelia van Duijn, PhD who is a consultant on behalf of Erasmus University in the Netherlands.

Contact: Gina DiGravio
Boston University Medical Center

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