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BUSM researchers involved in first international collaboration on genetics of Alzheimer's disease

Feb. 1, 2011, Boston - The launch of the International Genomics of Alzheimer's Project (IGAP) a collaboration formed to discover and map the genes that contribute to Alzheimer's disease was announced today by a multi-national group of researchers including Drs. Lindsay Farrer and Sudha Seshadri at Boston University School of Medicine (BUSM). The collaborative effort, spanning universities from both sides of the Atlantic, will combine the knowledge, staff and resources of four consortia that work on Alzheimer's disease genetics.

The four groups are:

  • The European Alzheimer's Disease Initiative (EADI) in France led by Philippe Amouyel, M.D., Ph.D., at the Institute Pasteur de Lille and Lille University.
  • The Alzheimer's Disease Genetics Consortium (ADGC) from the United States led by Gerard Schellenberg, Ph.D., at the University of Pennsylvania School of Medicine.
  • The Genetic and Environmental Risk in Alzheimer's Disease (GERAD) from the United Kingdom led by Julie Williams, Ph.D., at Cardiff University.
  • The neurology subgroup of the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) led by Sudha Seshadri, M.D., at BUSM.

One of the research teams at BUSM, directed by Lindsay Farrer, PhD, a professor and chief of biomedical genetics at BUSM, is co-leading the primary analyses for IGAP on behalf of the Alzheimer's Disease Genetic Consortium (ADGC), which includes investigators from 44 different universities and research institutions across North America. The researchers will analyze detailed clinical information and genetic profiles obtained from more than 40,000 Alzheimer cases and cognitively normal persons. Other researchers from Boston University involved in this effort are Drs. Gyungah Jun and Kathryn Lunetta.

"Identification of genes that contribute to Alzheimer's risk and that influence the progression of disease will help lead us to the cause of the disease, identify proteins and other new targets for drug development, and provide genetic methods for determining which people are at greatest risk for Alzheimer's disease when preventative measures become available," said Dr. Schellenberg.

"This is extremely important work in taking our ability to detect and treat Alzheimer's disease to the next level," said Dr. Amouyel.

"As cohort researchers, we are particularly interested in understanding the relationship between genes we uncover through the IGAP consortium and environmental risk factors," said Dr. Seshadri, an associate professor of neurology at BUSM and senior investigator heading the neurogenetics core at the Framingham Heart Study. Other researchers involved with CHARGE include: Drs. Monique Breteler, Cornelia van Duijn and M. Arfan Ikram of the Rotterdam Study; Drs. Oscar Lopez, Annette Fitzpatrick, Josh Bis and Bruce Psaty of the Cardiovascular Health Study; Drs. Lenore Launer and Vilmundur Gudnason of the AGES-Reykjavik study; and Drs. Anita DeStefano, Phillip Wolf and Stephanie Debette from Boston University and the Framingham Heart Study.

While each consortium alone is currently working with thousands of participants including people with Alzheimer's and those free of dementia scientists in the four groups recognize that only by working together can they amass a large enough collection of participants to accelerate gene discovery. Formation of IGAP creates a shared resource database that includes genetic data for the more than 40,000 individuals.

"While each of the consortia have made important contributions, the collective research and intellectual resources of IGAP will certainly uncover many more Alzheimer susceptibility genes and, thus, a much better understanding of the pathways leading to the disease," said Dr. Farrer.

Drs. Amouyel, Schellenberg, Seshadri and Williams are enthused about the collaboration that brings together, for the first time, all of the large genetics groups in the world working on Alzheimer's disease. They share high expectations that the cooperative effort will greatly advance knowledge about Alzheimer's disease.

"Working together on this scale will bring us years closer to understanding this cruel disease, and to the development of new Alzheimer's treatments," said Dr. Williams.

The formation of IGAP is supported by the Alzheimer's Association ( and the Fondation Plan Alzheimer (

"We're pleased to fund this project that will bring together well-established and highly regarded research groups throughout the world to enable an unprecedented sharing and analysis of Alzheimer genetic data," said William Thies, Ph.D., Alzheimer's Association Chief Medical and Scientific Officer, and Philippe Lagayette, President of the Fondation Plan Alzheimer in France.

Alzheimer's disease is a progressive, neurodegenerative disorder that is fatal, and has no prevention methods and no cure. Available drugs only marginally affect disease symptoms, making Alzheimer's disease effectively untreatable. Alzheimer's disease invariably progresses to complete incapacitation and death over a period of several years.

In the World Alzheimer Report 2010, Alzheimer's Disease International estimates that there are now 35.6 million people living with dementia worldwide, increasing to 65.7 million by 2030 and 115.4 million by 2050. According to the Report, the total estimated worldwide costs of dementia are US $604 billion in 2010.

"The skyrocketing prevalence and cost of Alzheimer's disease and related dementias will soon undermine the delivery of healthcare worldwide," said Dr. Schellenberg. "That gives innovative collaborations like this new international genomics project added incentive to act quickly and boldly to make new discoveries."

"Our first efforts will be to bring together all the data from the different groups so that they can be analyzed," said Dr. Amouyel. "The next step will be to perform new analysis on subjects not yet in any genetics studies to further increase the number of people in our studies and to increase the ability to detect new genes."


Contact: Jenny Eriksen Leary
Boston University Medical Center

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