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

National Institute On Aging

Investigators

Linked publications, trials & patents

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. Over the last year, we have focused our research efforts on generating the whole-genome sequence data. This has been done in collaboration with Clifton Dalgard and The American Genomic Center at the Uniformed Services University. The majority of samples have been processed, and the remainder will be completed shortly. The next step will be to analyze this complete dataset to find the genes underlying these neuropathological entities. In the process, we will also generate a data-rich resource for the research community that will act as a springboard for future systems biology investigations and translational research efforts.