October 8, 2004
Penn To Participate in Nationwide
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
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
- 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
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
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 firstname.lastname@example.org.
Information is also available through the study web
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