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December 2, 2013

NIH deposits first batch of genomic data for Alzheimer’s disease

Filed under: Bioinformatics,Genomics,Medical Informatics — Patrick Durusau @ 5:44 pm

NIH deposits first batch of genomic data for Alzheimer’s disease

From the post:

Researchers can now freely access the first batch of genome sequence data from the Alzheimer’s Disease Sequencing Project (ADSP), the National Institutes of Health (NIH) announced today. The ADSP is one of the first projects undertaken under an intensified national program of research to prevent or effectively treat Alzheimer’s disease.

The first data release includes data from 410 individuals in 89 families. Researchers deposited completed WGS data on 61 families and have deposited WGS data on parts of the remaining 28 families, which will be completed soon. WGS determines the order of all 3 billion letters in an individual’s genome. Researchers can access the sequence data at dbGaP or the National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS), https://www.niagads.org.

“Providing raw DNA sequence data to a wide range of researchers proves a powerful crowd-sourced way to find genomic changes that put us at increased risk for this devastating disease,” said NIH Director, Francis S. Collins, M.D., Ph.D., who announced the start of the project in February 2012. “The ADSP is designed to identify genetic risks for late-onset of Alzheimer’s disease, but it could also discover versions of genes that protect us. These insights could lead to a new era in prevention and treatment.”

As many as 5 million Americans 65 and older are estimated to have Alzheimer’s disease, and that number is expected to grow significantly with the aging of the baby boom generation. The National Alzheimer’s Project Act became law in 2011 in recognition of the need to do more to combat the disease. The law called for upgrading research efforts by the public and private sectors, as well as expanding access to and improving clinical and long term care. One of the first actions taken by NIH under Alzheimer’s Act was the allocation of additional funding in fiscal 2012 for a series of studies, including this genome sequencing effort. Today’s announcement marks the first data release from that project.

You will need to join with or enlist in a open project with bioinformatics and genmics expertise to make a contribution but the data is “out there.”

Not to mention the need to integrate existing medical literature, legacy data from prior patients, drug trials, etc., despite usual semantic confusion of the same.

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