Genome Project Will Help 'Create a World Without Alzheimer's'

Deborah Brauser

July 13, 2012

July 12, 2012 — As the Alzheimer's Association gets set to launch its 2012 Alzheimer's Association International Conference (AAIC), the organization has announced a new partnership to fund whole genome sequencing on more than 800 people enrolled in the ongoing Alzheimer's Disease Neuroimaging Initiative (ADNI) study.

Partnering with the Brin Wojcicki Foundation, which is a personal genetics company, the project will allow for the largest cohort related to a single disease to be sequenced.

The project is expected to provide approximately 165 terabytes of new genetic data, which will be immediately available to any researcher around the world studying Alzheimer's disease (AD). The hope is that the data will help to better understand how genes cause and are affected by physiological changes associated with the disorder.

"One of the best pieces of this is the applying of a relatively new technology to a wonderfully characterized preexisting set of patients over time. And we're going to be able to do this for a relatively modest amount of money," William Thies, PhD, chief medical and scientific officer of the Alzheimer's Association, told Medscape Medical News.

Dr. William Thies

"We think all of that is very exciting," added Dr. Thies.

The AAIC annual meeting will be held in Vancouver, Canada, June 14-19.

Rising Death Rates

According to the Alzheimer's Association, roughly 4.5 million Americans currently have AD; and a new case develops every 68 seconds. AD is also the 6th leading cause of death in the United States, with death rates rising by 66% from 2000 to 2008.

Led by the National Institutes of Health (NIH), ADNI was launched in 2004. Its public-private funding consortium is composed of science-related businesses, organizations such as the Alzheimer's Association and the Northern California Institute for Research and Education, and pharmaceutical companies.

ADNI enrolls not only individuals who have been diagnosed with AD but also those with mild cognitive impairment and normal cognition. The study's goal is to improve early diagnosis.

"Sequencing this group will let us begin to tease out the genetic components that might explain more about who develops [AD] and the rates at which they progress to the disease. We'll also look at markers that might warn us about people who are about to convert to Alzheimer's disease," said Dr. Thies.

According to the Alzheimer's Associaiton, whole genome sequencing will determine "all 6 billion letters in an individual's DNA in 1 comprehensive analysis."

Each sequence is completed in approximately 4 months. Upon completion, the raw data will be made available to qualified AD scientists. This will add to previous ADNI research data, including brain scans and cognitive profiles, which have all been immediately available to researchers.

Unprecedented Research Tool

So far, 500 scientific manuscripts have been written on the basis of these data.

"There are more papers published on ADNI data by people who don't work in that study than papers published by people who do work in it. Putting this type of resource in a public place gets many more eyes looking at it through different viewpoints. And that has resulted in some really interesting observations," reported Dr. Thies.

He added that he is excited to continue this sharing of information, especially with a field that is "very collaborative" in nature.

"Adding whole genome sequences to this rich repository will allow investigators all over the world to discover new associations between these disease features and rare genetic variants, offering new clues to diagnosis and treatment," said Robert C. Green, MD, MPH, from Brigham and Women's Hospital and Harvard Medical School in Boston, Massachusetts, and who is soon to lead sequencing coordination for the ADNI, in a release.

"This new initiative will rapidly create an unprecedented tool for researchers to create a world without Alzheimer's," added Alzheimer's Association president and CEO Harry Johns in the same release.

Upcoming Conference

Dr. Thies reported that more than 4000 clinicians and scientists will be attending the upcoming AAIC meeting.

"When you're looking for scientific hope in Alzheimer's disease, one of the key pieces is the number of smart people who are working on the problem. And so the magnitude of the conference is certainly something that is always exciting to us," he said.

Alzheimer's Association International Conference (AAIC) 2012.

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