October 8, 2004

Penn To Participate in Nationwide Study Seeking
Families with Two or More Siblings
Living with Alzheimer’s Disease
Search for Risk-Factor Genes to
Identify Causes, Drug Targets

(Philadelphia, PA) – The University of Pennsylvania School of Medicine is taking part in a nationwide effort to identify 1,000 families with two or more siblings with late-life Alzheimer’s disease (AD) to participate in a major research study, called the Alzheimer’s Disease Genetics Study. The goal of the study is to hasten the search for risk-factor genes that increase the chance of developing AD later in life.

The study will be conducted by National Institute on Aging (NIA)-funded AD research centers around the country. Researchers will create a large bank of genetic material, cell lines, and data from families with multiple members with late-onset AD. They will then use this data to discover the risk-factor genes that contribute to late-onset AD, the most common form of the disease. Discovery of risk-factor genes will help them find underlying disease processes and identify new targets for drug therapy. Penn’s Alzheimer Disease Center has also received a supplemental grant from NIA to take part in the Alzheimer Disease Genetics Study.

“This study is the first step to answering an important question that is asked by many individuals who have someone in their family with Alzheimer’s disease: ‘What is my risk for Alzheimer’s disease?’” says study coordinator Jennifer Farmer, a genetic counselor at Penn. “Researchers studying genetic risk factors for late-onset Alzheimer’s disease need many well-documented individuals and families to begin their work.”

“This initiative would not be possible without the NIA supporting cooperative genetic studies by Alzheimer’s Disease Centers across the nation,” says John Q. Trojanowski, MD, PhD, Co-Director of the Center for Neurodegenerative Disease Research and co-principal investigator, along with Vivianna van Deerlin, MD, PhD, Assistant Professor of Pathology and Laboratory Medicine. Genetic counselor Beth Wood is also a research coordinator on Penn’s AD Genetics Study.

To be eligible to participate in the study, families must have at least three members who can donate a blood sample, including:

• Two siblings (brothers or sisters) who developed AD after age 60, and
• Another family member over age 50 who may have memory loss or a family member over age 60 who does not have any memory loss.

Participation involves a neurological examination or collection of medical records and the donation of a blood sample, which will be made into a cell line (a family of cells grown in the laboratory). This will enable the participant’s DNA to be available to qualified scientists over many years. Medical, demographic, and family history information also will be collected. Unaffected family members also may be asked to participate. The cell lines and DNA will be stored at a centralized repository at Indiana University – the National Cell Repository for AD (NCRAD).

There is no cost for those who join the study. To ensure broad participation, study coordinators will make alternative arrangements for participation if people eligible to take part are not located near a designated study site.

An important part of the study is the confidential treatment of the genetic information collected from participants. Researchers will not be able to identify samples on an individual level. While clinical, demographic, and family history information about the participants will be available to researchers, this information will also be free of unique identifiers. Coded data on the blood sample will be stored in a secure computer at the NCRAD. Detailed discussion of informed consent documents will outline for participants how the study will be conducted and how data will be protected at each site and at the cell repository.

About 90 percent of people with AD have late-onset (also called “late-life”) AD, which strikes people age 65 and older. There is no obvious inheritance pattern with late-onset AD, but researchers have identified one risk-factor gene, the e4 variant of apolipoprotein E (apoE). This discovery has opened up many important avenues to understanding the biological and environmental interactions that may be important to the development of late-onset AD. While scientists are much closer to identifying at least four regions of chromosomes where other risk-factor genes might exist, researchers have strongly recommended that further collection and analysis of larger sample sets are needed to home in on these genes.

The AD Genetics Study is sponsored by the NIA and is supported by the Alzheimer’s Association, the nation’s largest private health organization dedicated to advancing AD research and providing information and support to those affected by the disease.

Individuals in the Philadelphia region can contact Penn study coordinator Beth Wood at 215-614-0937, or may contact NCRAD directly at 1-800-526-2839 or alzstudy@iupui.edu. Information is also available through the study web site: www.ncrad.org.

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