Brain Bank Genome Sequencing - Exploring Alzheimer's disease related dementias

National Institute On Aging

Investigators

Linked publications & trials

Abstract

Neurodegenerative diseases are common causes of disability that place an enormous physical, emotional, and financial burden on affected individuals, caregivers, and the community. The prevalence of neurodegenerative diseases is increasing as the population ages, causing major public health concerns. Unfortunately, our current knowledge of the molecular underpinnings is limited, and treatments are essentially supportive in nature. Although disease pathways are increasingly recognized, little is known about genetic drivers for the most common protein depositions found in the brain in affected individuals. The BrainBankSeq initiative is designed to address this critical gap in our knowledge by applying modern quantitative genetic tools to pathologically well-characterized patients. Genome-sequencing of pathologically defined patients represents a powerful approach to unravel the molecular causes of age-related neurological conditions. The samples for this effort come from two brain banks, namely the Johns Hopkins Brain Resource Center and the Banner Health Brain & Tissue Bank. Indeed, this is the first time that whole-genome sequencing has been applied broadly to entire brain bank collections. The whole-genome sequence data has been produced in collaboration with Clifton Dalgard and The American Genomic Center at the Uniformed Services University. Analysis of these data has progressed significantly, and they have been used as discovery efforts in Lewy Body Dementia, Parkinsons disease, and other neurological disorders. This has resulted in a data-rich resource for the research community.