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- Posted Monday November 9, 2015
TGen-BNI 'one-drop' blood test among new projects funded by Alzheimer's Association and Global Down Syndrome Foundation
Studying Alzheimer's in people with Down Syndrome may accelerate scientific discovery
DENVER and CHICAGO - Nov. 9, 2015 - There is
increasing evidence that the brain changes of Alzheimer's disease
begin decades before memory and thinking problems occur, prompting
the need for better methods of early detection for this
progressive, fatal brain disease.
Consequently, there is a growing school of thought that the most
effective future Alzheimer's drug therapies will be administered to
those who are at high risk of the disease before cognitive symptoms
appear.
To bolster development of a simple, inexpensive, noninvasive test
that can detect the risk of Alzheimer's disease, the Alzheimer's
Association, the Crnic Institute for Down Syndrome, and the Global
Down Syndrome Foundation ("Global") are funding two studies of
potential new blood tests for Alzheimer's, including one that uses
just one drop of blood:
• One study will evaluate whether examining
changes in ribonucleic acid (RNA) found in one drop of blood can
accurately identify people who will develop Alzheimer's in
individuals with Down syndrome who are at high risk for the
disease. The study is being led by Marwan Sabbagh, M.D., Director
of the Alzheimer's and Memory Disorders Division at the Barrow
Neurological Institute (BNI) in Phoenix, and Matt Huentelman,
Ph.D., Associate Professor in the Neurogenomics Division at the Translational
Genomics Research Institute (TGen) in Phoenix.
• Another study will test whether a specific set
of blood proteins can identify who is at risk for developing
Alzheimer's in a unique, high-risk population, individuals with
Down syndrome. The study is being led by Nicole Schupf, Ph.D.,
M.P.H., D.Ph., Professor of Epidemiology at Columbia University
Medical Center in New York City, and Sid O'Bryant, Ph.D., Director
of the Center for Alzheimer's and Neurodegenerative Disease
Research at the University of North Texas Health Science Center in
Fort Worth.
"Prevention of Alzheimer's dementia may be more effective and
easily achieved than attempting to treat the disease once symptoms
already exist and irreversible damage to the brain has already
occurred," says Dean Hartley, Ph.D., Director of Science
Initiatives for the Alzheimer's Association. "For this approach to
be successful, we must be able to simply and accurately assess risk
early in the disease process. The Alzheimer's Association and the
Global Down Syndrome Foundation hope that these two exciting
projects drive that effort forward."
"Autopsy is still the only way to definitively diagnose
Alzheimer's disease," said Michelle Sie Whitten, President and CEO
of the Global Down Syndrome Foundation. "If these researchers are
successful we will be one step closer to catching Alzheimer's in
its early stages and hopefully then be able to treat people with
the disease earlier and actually prevent dementia from occurring,
when new treatment options become available."
The grant awards are part of $1 million in new funding for Down
syndrome-related Alzheimer's disease research. Four projects will
receive $250,000 each through the joint funding effort.
Nearly all adults with Down syndrome begin developing the brain
changes of Alzheimer's in their 30s. By age 55 or 60, it is
estimated 55-70% will develop dementia. Because people with Down
syndrome are at high risk for Alzheimer's, answers to important
research questions about the disease may be developed more quickly
in this population than by studying people with sporadic,
late-onset Alzheimer's, where symptoms appear most often after age
65 - and in many cases not until the 70s or 80s.
"It used to be common for individuals with Down syndrome to die in
their 30s, but because of medical advances they are now regularly
living into their 50s and 60s. The irony is that they are now
facing dementia due to Alzheimer's disease," says Huntington
Potter, Ph.D., Director of Alzheimer's Research at the Crnic
Institute for Down Syndrome and a Professor of Neurology at the
University of Colorado, Denver. "At the same time, questions about
Alzheimer's may be answered more quickly by studying this disease
in people with Down syndrome because of their high risk for
Alzheimer's and the earlier onset. Through this approach, people
with Down syndrome have the opportunity to further our
understanding of Alzheimer's disease and we have the opportunity to
help this population."
Scientists are not sure exactly why individuals with Down syndrome
are at high risk for Alzheimer's disease but past research shows
that a gene on chromosome 21 codes for the amyloid precursor
protein (APP) that gets cut into fragments that accumulate into the
hallmark amyloid brain plaques of Alzheimer's. People with Down
syndrome are born with an extra copy of chromosome 21.
"The hope for our study is that the identification of RNA
biomarkers for Alzheimer's could be used in a non-invasive blood
test that requires just one drop of blood to assess an individual's
risk of developing the disease, similar to the way a person with
diabetes checks their blood sugar," says Sabbagh. "If we can learn
early on that a person is at risk, the goal would be to start
preventative therapies immediately. This could be a game
changer."
"Our research could provide new information about potential
biomarkers, including protein changes detected in blood, that could
more accurately and easily predict the risk for Alzheimer's disease
in people with Down syndrome," says Schupf. "If successful, we
believe there is a chance that these biomarkers could also be used
to assess Alzheimer's risk in all groups of people."
The Alzheimer's Association is the largest nonprofit funder of
Alzheimer's research, having awarded more than $350 million to over
2,300 projects since 1982. The Association currently supports more
than 350 ongoing research projects in 21 countries totaling more
than $82 million.
The Global Down Syndrome Foundation raises funds for the Crnic
Institute for Down Syndrome to underwrite critical research
benefiting people with Down syndrome. To date, $5.7 million in
research grants has been given to 33 investigators.
The two other research projects the Alzheimer's Association and
Global are funding through the joint grant award effort are:
• A test of a potential Alzheimer's drug
treatment that reduces levels of toxic protein fragments in the
brain of a mouse model of Down syndrome. The project is led by
William Mobley, M.D., Ph.D., Chair of the Department of
Neurosciences at the University of California, San Diego (UCSD) and
Executive Director of UCSD's Down Syndrome Center for Research and
Treatment.
• A study to determine whether a protein called
Dyrk1A influences the build-up of brain proteins that lead to the
formation of plaques and tangles that are key features of
Alzheimer's in a mouse model of Down syndrome. Dyrk1A is created by
one of the genes on chromosome 21 and is overabundant in the brains
of people with Down syndrome. The study is led by Fei Liu, Ph.D.,
Head of Molecular Neuroscience for the Research Foundation for
Mental Hygiene, Inc. at the New York State Institute for Basic
Research in Staten Island.
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About TGen
Translational Genomics Research Institute (TGen) is a Phoenix,
Arizona-based non-profit organization dedicated to conducting
groundbreaking research with life changing results. TGen is focused
on helping patients with neurological disorders, cancer, and
diabetes, through cutting edge translational research (the process
of rapidly moving research towards patient benefit). TGen
physicians and scientists work to unravel the genetic components of
both common and rare complex diseases in adults and children.
Working with collaborators in the scientific and medical
communities literally worldwide, TGen makes a substantial
contribution to help our patients through efficiency and
effectiveness of the translational process. For more information,
visit:www.tgen.org. Follow TGen on Facebook, LinkedIn and Twitter @TGen.
Press Contact:
Steve Yozwiak
TGen Senior Science Writer
602-343-8704
[email protected]
About the Global Down Syndrome Foundation
Global Down Syndrome Foundationis a public nonprofit
dedicated to significantly improving the lives of people with Down
syndrome through research, medical care, education and advocacy.
Global supports two affiliates which together constitute the only
academic home in the United States committed solely to research and
medical care for people with Down syndrome -
theCrnicInstitute for Down Syndromeand
theSie Center for Down Syndrome. Global also
publishesDown Syndrome World, a national award-winning
quarterly magazine. For more information,
visitwww.globaldownsyndrome.org.Follow Global Down
Syndrome Foundation on Facebook & Twitter @GDSFoundation.
About the Alzheimer's Association
The Alzheimer's Association is the leading voluntary health
organization in Alzheimer's care, support and research. It is the
largest nonprofit funder of Alzheimer's research. The Association's
mission is to eliminate Alzheimer's disease through the advancement
of research; to provide and enhance care and support for all
affected; and to reduce the risk of dementia through the promotion
of brain health. Its vision is a world without Alzheimer's. Visit
alz.org or call 800.272.3900.
