Whole genome sequencing of Alzheimer’s patients to be made available to researchers

Friday, July 12, 2013

The Alzheimer’s Association and the Brin Wojcicki Foundation have announced new data has been generated by the “Big Data” project for Alzheimer’s disease. The data will be made freely available to researchers worldwide to advance Alzheimer’s science.

The project obtained whole genome sequences on the largest cohort of individuals related to a single disease—more than 800 people enrolled in the Alzheimer’s Disease Neuroimaging Initiative (ADNI).

“With the addition of more than 800 whole genomes on ADNI subjects that can be linked to the current dataset, ADNI data will be even more useful to scientists who are seeking new approaches to treatment and prevention of Alzheimer’s disease,” said Robert C. Green, M.D., M.P.H., of Brigham and Women’s Hospital and Harvard Medical School, who led the ADNI sequencing project. “ADNI provides clinical, imaging and biomarker data to over 4,000 qualified scientists around the world, which has generated over 700 scientific manuscripts.”

The genome sequencing data, estimated to be 200 terabytes, will be housed in and available through the Global Alzheimer’s Association Interactive Network (GAAIN), a planned network of Alzheimer’s disease research data made available by Alzheimer’s researchers from their own laboratories. GAAIN is funded by an initial $5 million investment by the Alzheimer’s Association.

“By fostering a higher level of global data sharing, GAAIN will accelerate investigation and discovery in Alzheimer’s through a system comparable to a search engine like Google or Bing for relevant data,” said Maria Carrillo, Ph.D., Alzheimer’s Association vice president of medical and scientific relations.

Whole genome sequencing determines all six billion letters in an individual’s DNA in one comprehensive analysis. The raw data from the ADNI project is being made available to qualified scientists around the globe to mine for novel targets for risk assessment, new therapies and insight into the causes of the fatal brain disease. The new data may enable scientists to better understand how genes cause and are affected by bodily changes associated with Alzheimer’s disease.

ADNI enrolls people with Alzheimer’s disease, mild cognitive impairment and normal cognition who agree to be studied in great detail over time. The goal is to identify and understand markers of the disease in body fluids, structural changes in the brain and measures of memory; the hope is to improve early diagnosis and accelerate the discovery of new treatments.

ADNI is led by principal investigator Michael W. Weiner, M.D., of the University of California San Francisco and the San Francisco VA Medical Center. Dr. Green collaborated on managing the sequencing efforts with Arthur Toga, Ph.D., of UCLA and Andrew J. Saykin, Psy.D., of Indiana University. The actual genome sequencing was performed at Illumina.

ADNI is a public-private research project led by the NIH with private sector support through the Foundation for NIH. Launched in 2004, ADNI’s public-private funding consortium includes pharmaceutical companies, science-related businesses and nonprofits including the Alzheimer’s Association and the Northern California Institute for Research and Education.

“GAAIN is similar in spirit and goals to other ‘big data’ initiatives that seek to greatly improve the tools and techniques needed to access, organize and make discoveries from huge volumes of digital data,” Carrillo said. “The advent of cloud computing makes it possible to link databases throughout the world and expand their data processing capability significantly to benefit the research community.”

Carrillo will supervise the development of GAAIN in conjunction with co-principal investigators Dr. Toga and Giovanni Frisoni, M.D., of the National Center for Alzheimer’s Disease Research and Care and the Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fatebenefratelli Hospital, Italy.

GAAIN is built on an international database framework already in use by thousands of scientists and local computational facilities in North America and Europe. The network makes research data available free of charge for searching, downloading and processing across a cloud-based, grid-network infrastructure.

“Through GAAIN we envision combining massive amounts of data from multiple sources across many subjects participating in numerous studies,” said Dr. Toga. “This will provide more statistical power than ever before.”

GAAIN leadership will invite scientists conducting qualified studies to become partners by permitting GAAIN to link directly to their databases. This enables researchers to add continually to their data sets and keep all data in GAAIN current. It also will enable the scientists to retain control over access to their data, which the Association believes will be important to encouraging participation.

“This is unprecedented in brain research, where sometimes thousands of examples are required to observe even the smallest change in the brain,” said Dr. Frisoni.

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