SOURCE: Down Syndrome Research and Treatment Foundation

February 26, 2007 10:20 ET

DSRTF Announces $2 Million Fundraising Campaign for Down Syndrome Cognition Research

New Scientific Advisory Board Challenges Common Misperceptions of Disorder and Points to Promising Developments for Quality of Life

PALO ALTO, CA -- (MARKET WIRE) -- February 26, 2007 -- The Down Syndrome Research and Treatment Foundation (DSRTF), a leading funder of Down syndrome cognition research, announced their fundraising target of $2 million for 2007 during the inaugural meeting of its Scientific Advisory Board (SAB). Citing the importance of advances made quietly during the past five years, DSRTF is challenging the medical research community to review both the science and the inaccurate positioning of the Down syndrome disorder.

"In establishing and convening the SAB, an effort spearheaded by DSRTF Board of Directors member Pat White, M.D., the Foundation has taken a further step towards achieving the goal of engaging and galvanizing the public, medical community, and scientists with a changed perception regarding the merit and significant potential of Down syndrome cognition research," said Patricia O'Brien-White, co-founder of DSRTF. "Cognition research -- the study of information processing by the brain, including learning and memory, and associated disorders -- presents a different side of Down syndrome: the as yet untapped capacity of the individual with Down syndrome to achieve cognitive abilities beyond what anyone ever expected. This research will dispel any impressions that it is futile to expect people with Down syndrome to lead independent lives."

DSRTF sought to assemble a group of high caliber scientists with areas of expertise relevant, but in some cases not yet applied, to the study of Down syndrome, based on the Foundations' conclusion that interdisciplinary approaches are essential to accelerate research and ultimately provide meaningful therapies. The DSRTF SAB members' areas of expertise encompass the fields of Down syndrome research, neuroscience, including Alzheimer's disease research, molecular cell physiology and metabolism, genetics/genomics, and drug discovery. DSRTF SAB members include a Nobel laureate, Lasker Medical Research Award winners, and members of the National Academy of Sciences and Institute of Medicine; current members are listed below:

--  William Cohen, M.D.  Children's Hospital of Pittsburgh.
--  David Cox, M.D., Ph.D.  Perlegen Sciences, Inc.
--  Ron Evans, Ph.D.  Salk Institute for Biological Studies and  Howard
    Hughes Medical Institute.
--  Michael Harpold, Ph.D. EnkephaSys, Inc.
--  Eric Kandel, M.D.  College of Physicians and Surgeons, Columbia
    University and Howard Hughes Medical Institute.
--  Leslie Leinwand, PH.D.  University of Colorado.
--  Lynn Nadel, Ph.D.  University of Arizona.
--  Roger Reeves Ph.D.  Johns Hopkins School of Medicine.
Dr. Bill Cohen, Director of the DS Clinic at the Children's Hospital of Pittsburgh for 17 years, is a leader in addressing the medical and social needs of the DS population. Dr. Cohen stated, "Parents of children with Down syndrome are told that there are no therapeutic interventions available to improve cognition and memory skills for a child with Down syndrome. The conversation usually ends there." Dr. Cohen further stressed that mobilization, involving parents, physicians, funding agencies, and researchers, is a critical issue and necessary to overcome research and therapeutic nihilism.

Today, DSRTF is pressing to build increased awareness among parents and biomedical researchers that recent studies suggest there may be various ways to intervene. In fact, over the past year, three independent research approaches, using mice with an extra copy of a similar chromosome to chromosome 21 in humans, demonstrated in these "DS model" mice the ability to significantly rescue specific brain structural and functional abnormalities which are closely related to cognition in Down syndrome. The timing of these findings suggests that a major impact on Down syndrome is achievable within the next ten years. It was clear to the DSRTF SAB members who met in San Francisco earlier this month that now is the time to infuse resources and funding to build and accelerate cognition research.

The SAB will play an important role in DSRTF's grant-making efforts by making recommendations concerning the research areas that could be enhanced through DSRTF funding. They already have acknowledged the important need for bold new initiatives, including the development of a comprehensive Down syndrome patient registry and tissue/DNA bank for detailed genotype-phenotype analyses and correlations. "Such a resource, if made available to the entire research community, would make it possible to expedite the process of identifying and moving potential therapeutic targets all the way through drug development and associated clinical studies," said Dr. Michael Harpold, SAB Chair and member of the DSRTF Board of Directors. Dr. Harpold further stated, "Based on our SAB meeting discussions it is clear that there are many additional promising research areas with the potential for significant impact in Down syndrome and that more support and funding will be key to realizing this potential. DSRTF is making a real difference and it will be critical to sustain and increase its research support initiatives."

"It was impressive to see the enthusiasm and commitment that each of the SAB members brought to this endeavor. The latest research is exciting and the newly added focus and perspectives being contributed by this prestigious group of scientists as DSRTF SAB members are important indicators of the promise this work holds," said O'Brien-White. Dr. David Cox, SAB member from Perlegen Sciences, concluded, "We have the technology, now is the time to fulfill the dream."


The Down Syndrome Research and Treatment Foundation (DSRTF), based in Palo Alto, California, is a national non-profit organization dedicated to supporting medical research for treatments that will improve cognition in individuals with Down syndrome. DSRTF was founded in 2003 by a small group of leading venture capitalists, who are parents of children with Down syndrome. They recognized that the availability of new scientific tools and techniques, stemming from the human genome project, presented an unprecedented opportunity to develop a deeper understanding of the biology of Down syndrome.

Contact Information

  • Contact:
    Down Syndrome Research and Treatment Foundation (DSRTF)
    Patricia O'Brien-White
    (650) 868-1447

    755 Pagemill Road, Suite A200
    Palo Alto, CA 94304
    (510) 421-4201