News
$880,000 DSRTF Grant to Study
Cognition in Down Syndrome
Stanford neuroscientists have been given an $880,000 grant from the Down Syndrome Research and Treatment Foundation (DSRTF) to study cognition in children and adults with the disorder. The money will help fund efforts by researchers in Stanford’s Center for Research and Treatment of Down Syndrome to understand how the condition produces cognitive impairment and how cognitive function might be improved.
“This grant helps support great science that may become great therapy,” says William Mobley, MD, PhD. Mobley is the John E. Cahill Family Professor in the School of Medicine and director of the Neuroscience Institute. “We hope it will lead to ways to improve cognition as well as protect existing cognitive abilities.”
More than 350,000 people in the United States have Down syndrome, a developmental disorder that is the leading genetic cause of mental retardation in the United States. One in every 800 births is a child with this disorder. Researchers have long known that Down Syndrome is caused a genetic condition called trisomy 21, in which cells carry an extra copy of chromosome 21. In addition to mental retardation, people with Down syndrome also have higher incidences of leukemia and congenital heart disease as well as early-onset Alzheimer’s disease pathology.
Mobley, the principal investigator funded under the grant, is joined by team members Craig Garner, PhD, professor of psychiatry and behavioral sciences, Daniel Madison, PhD, associate professor of molecular and cellular physiology, and Isabella Graef, PhD, assistant professor of pathology. Mobley says of the team, “it is an immense pleasure to work with such talented scientists, people who commit not only their laboratories but their hearts to the care of individuals with Down syndrome”.
Researchers at the Neuroscience Institute at Stanford have already achieved promising results in Down syndrome research. In the last few years they have identified a Down syndrome-associated gene that leads to learning and memory problems in a mouse model. The hope is that researchers may be able to improve learning and memory in people with Down syndrome using drugs to block this gene or its protein product.
Other NIS research findings may have implications not only for Down syndrome, but for Alzheimer’s disease as well. Alzheimer’s disease pathology is seen in all people with Down syndrome, and Stanford scientists are beginning to find clues about why this is so. The research may ultimately result in a cure for Alzheimer’s disease in the elderly as well as in those with Down syndrome.
The current grant is only the latest chapter in a longstanding and fruitful relationship between the Neuroscience Institute and the DSRTF, which has provided three other substantial grants to Stanford researchers since 2004. “They are terrific,” Mobley says of the foundation. “They have been the most effective funding source focused specifically on Down syndrome research. They have been very helpful to us and we very much appreciate their support.”
The DSRTF was co-founded by Jim and Patricia White of Portola Valley, CA, and Roger and Dawn Kafker of Boston, MA. Both couples are parents of children with Down syndrome. When they began looking at the state of the art in Down syndrome research and treatment, they realized that there was little existing research on the disorder. They also saw that there were large potential payoffs if new research could be encouraged and funded.
“The foundation takes a venture-strategy approach to philanthropy,” says Michael Harpold, Ph.D., chief executive officer of the DSRTF. “We saw that the field needed seed money to generate new ideas.” And like venture capitalists, DSRTF wants to aim for the large scientific returns in the near future. The DSRTF objective is to fund not just research, but research oriented toward collaboration in finding practical treatments. “We decided to focus on research in cognition, because that is where some of the most significant progress appears to be possible, and because improvements in cognition would make a big difference in the lives of those with Down syndrome. It could provide them the ability to live more independently,” Harpold says.
The DSRTF founders quickly discovered the Neuroscience Institute. “Based upon an initial in-depth survey concerning Down syndrome research, DSRTF found that the group at Stanford was working with a great mouse model and possessed a serious commitment to advancing cutting-edge research in Down syndrome,” Harpold says. Additionally, they found that Mobley “is well respected in the field and is well known for his work in neurotrophic factors and neurodegeneration.”
So far, the foundation has raised over $3 million for research, a significant proportion of which has gone to funding the Stanford researchers since DSRTF was founded in 2004. They have also awarded additional grants to other researchers in the US and currently exploring extending grant funding to promising research in Europe. “The model is that if you get sufficient funding to the right people, you can make things happen,” Harpold says. “The research funded by DSRTF so far has led to rapid and unprecedented progress and dramatically demonstrates the proof of principle of this approach.”
The foundation is also particularly effective in raising awareness, Mobley says. DSRTF board members have taken their message to the US Congress, and their efforts were in part responsible for the recent formation of a congressional caucus devoted to Down syndrome. In addition, families all across the country have become aware of the current state of research through publicity efforts of the foundation, Mobley says. “They are particularly effective at bringing the community up to speed and to emphasizing the important place that people with Down syndrome can and do play in our communities,” he notes.
The foundation’s efforts to publicize Down syndrome will ultimately provide an additional boost to researchers. According to Mobley, “They are not just bringing more public attention to Down syndrome, they are building the community awareness and trust that will be necessary to build large clinical trials when potential therapies are in hand.
With all the positive developments in the field, researchers “are beginning to think that the disorder should be relabeled ‘Up syndrome,’” Mobley says.
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