Alzheimer’s disease and related dementias

by Marilyn MILLER Program Officer Division of Neuroscience (DN).

The coronavirus has the research community adjusting on the fly to keep our science moving until we can safely return to our labs. One of the cool things about genetics research is that the big, beautiful data that drives the Alzheimer’s disease and related dementias (AD/ADRD) research field can be accessed and studied remotely. So, now’s a great time to announce the release of the latest genomics data set from the Alzheimer’s Disease Sequencing Project (ADSP).

It’s been a while since I first blogged about the NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS), and it has been growing strong ever since. Hosted by the University of Pennsylvania, NIAGADS is the data coordinating center for the ADSP and a key national repository for the field. It is a vital tool as we seek to better understand genes that increase risk for — or protection from — AD/ADRD, and ultimately to unveil potential new therapies to help prevent or delay the disease.

The ADSP was inaugurated in 2012 to study the genetic architecture of AD/ADRD using next-generation sequencing technologies to identify rare variants in large populations. The ADSP is helping researchers identify new genomic variants that increase risk for late-onset Alzheimer’s disease and better understand why some people with known risk factor gene variants do not develop AD. Through large, diverse studies and participant populations, the ADSP also helps sequence data to extend previous discoveries that could illuminate new pathways to therapeutic targets.

Through the NIAGADS Data Sharing Service (DSS) website, researchers can now access robust sequencing data of the protein-coding regions (exomes) of 19,922 samples from 9 different studies with multi-ethnic data sets. To access data, qualified investigators can submit Data Access Requests by following the instructions. The DSS site also includes a list of contributing cohorts and a breakdown of the subjects by condition and population background.

NIA supports additional projects through the ADSP Follow Up Sequencing Program. Project researchers will contribute DNA and phenotypes to ADSP for additional whole-genome sequencing. The next major data release — consisting of around 17,000 complete genomes (including the 4,789 genomes that were released in 2018) — should be available at NIAGADS DSS toward the end of the year.

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