Penn To Participate in Nationwide Study Seeking
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 sample, including:
- Two siblings (brothers or sisters) who developed AD after age 60,
- 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
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
Information is also available through the study web site: www.ncrad.org.
PENN Medicine is a $2.7 billion enterprise dedicated
to the related missions of medical education, biomedical research, and
high-quality patient care. PENN Medicine consists of the University of
Pennsylvania School of Medicine (founded in 1765 as the nation’s
first medical school) and the University of Pennsylvania Health System
(created in 1993 as the nation’s first integrated academic health
Penn’s School of Medicine is ranked #3 in the nation for receipt
of NIH research funds; and ranked #4 in the nation in U.S. News &
World Report’s most recent ranking of top research-oriented medical
schools. Supporting 1,400 fulltime faculty and 700 students, the School
of Medicine is recognized worldwide for its superior education and training
of the next generation of physician-scientists and leaders of academic
Penn Health System is comprised of: its flagship hospital, the Hospital
of the University of Pennsylvania, consistently rated one of the nation’s
“Honor Roll” hospitals by U.S. News & World Report; Pennsylvania
Hospital, the nation's first hospital; Presbyterian Medical Center; a
faculty practice plan; a primary-care provider network; two multispecialty
satellite facilities; and home health care and hospice.