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DSRTF Submits Statement to the House Appropriations Subcommittee on Labor, Health, Human Services, Education and Related Agencies on Funding Down syndrome research at the National Institutes of Health and the Centers for Disease Control and Prevention.
April 15, 2005

WRITTEN STATEMENT OF MR. VINCENT RANDAZZO ON BEHALF OF THE DOWN SYNDROME RESEARCH AND TREATMENT FOUNDATION and THE KSS FOUNDATION

On Funding Down Syndrome Research at the National Institutes of Health and Centers for Disease Control and Prevention

Submitted to Subcommittee on Labor, Health and Human Services, Education and Related Agencies House Committee on Appropriations

April 15, 2005

Mr. Chairman and members of the Subcommittee, I thank you for the opportunity to submit written testimony on the importance of federal funding for Down syndrome research at both the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC). I am a member of the Board of Directors for the Down Syndrome Research and Treatment Foundation (DSRTF), a national non-profit organization that supports bio-medical research to improve cognition in people with Down syndrome through the development of new medical treatments. I am submitting this written testimony on behalf of DSRTF and the KSS Foundation, which is a Denver-based non-profit organization that supports Down syndrome medical research on cognition.

Down Syndrome Research on Cognition Has Brought New Hope to Parents

I submit this written testimony not as a medical expert on Down syndrome, but rather as a concerned parent. My son, Michael, was born with Down syndrome in 1998. At the time of his birth, my wife and I were told that Michael would have significant cognitive impairment that could never be reversed. While Michael would be able to attend school, learn to read on an elementary level and eventually be able to work in the community with support, doctors gave us no hope that Michael could ever function cognitively on the level of his twin brother, who did not have Down syndrome.

Four years later, however, I learned about a small cadre of scientists in this country who were re-energizing Down syndrome medical research by focusing on the neuro-biology and genetic underpinnings of the disorder. Aided by the mapping of the human genome and new technology, these scientists were attempting to identify the specific genes or gene clusters that could cause cognitive dysfunction in the brains of people with Down syndrome. I learned that while Down syndrome might never be “cured” in the sense that all its affects could be reversed, it was reasonable and realistic to expect that some day treatments could be developed to improve learning, memory and speech. Moreover, such treatments might also prevent the early onset of Alzheimer’s disease in adulthood that affects many individuals with Down syndrome.

This new direction for Down syndrome research has not only energized scientists, it has also brought new hope to parents who recognize that their children may one day be able to live fuller and more independent lives. DSRTF and the KSS Foundation were created to support this re-vitalized medical research that brings new hope to the 350,000 families in this country who have children with Down syndrome.

Congress Acknowledges the Importance of Down Syndrome Research on Cognition and Encourages NIH to Increase Funding for Cognition Studies

In 2003, the Subcommittee acknowledged the importance of increasing Down syndrome research on cognition at NIH. In its report for FY03, the Subcommittee urged the Director of the National Institutes of Health (NIH) to “coordinate with NICHD, NIA, NINDS and NIMH, to place a high priority of researching the causes and treatment of Down syndrome and to allocate sufficient funds for expanding Down syndrome research into enhancing cognitive development and developing methods to ameliorate early cognitive decline and the onset of Alzheimer’s disease.”

In May of 2003, the Subcommittee heard testimony from George Will, a nationally-syndicated columnist and television commentator, on the importance of increasing funding for Down syndrome research on cognition. In his testimony, Mr. Will pointed out the need for better coordination among the Institutes that fund Down syndrome research and urged NIH to convene a research and planning conference for Down syndrome research to prioritize research initiatives and funding among the Institutes. Mr. Will also testified that there was an immediate area of need among Down syndrome researchers for increased funding of mouse models for research.

In the FY04 report, the Subcommittee again strongly encouraged NINDS, NICHD, NIA and NIMH to increase funding for Down syndrome research, particularly as it related to cognitive enhancement and the early onset of Alzheimer’s disease in people with Down syndrome. The Subcommittee also urged NICHD to increase funding for production of the Ts65Dn mouse model and pointed out that current funding for production of this mouse model was “inadequate to produce the quantity of mice needed for current research.”

In March of 2004, Dr. William Mobley, Director of the Center for Research and Treatment of Down Syndrome at Stanford University and Chairman of the Department of Neurology and Neurological Sciences at Stanford, testified before the Subcommittee. In his testimony, Dr. Mobley pointed out that there was a serious shortage of Ts65Dn mice for Down syndrome research that was inhibiting progress in the field. He also called upon NIH to make Down syndrome research on cognition a priority and underscored the need for a research strategic plan and better coordination of cognition research among the Institutes.

In its report for FY05, the Subcommittee noted that it was aware of the shortage of research mice and strongly encouraged NICHD to increase funding for greater production of the Ts65Dn mouse model and for research and development of other mouse models. The Subcommittee also urged NICHD and NINDS to work closely with the other Institutes to establish a new, multi-year research initiative to fund Down syndrome bio-medical research on cognition, behavior and early dementia.

NIH Responds to Congress and Parent Advocacy Groups

In November of 2004, NIH responded to repeated requests from Congress and parent advocacy groups by allocating $250,000 over two years to increase production of the Ts65Dn mouse model at Jackson Laboratory. This funding, although limited, has helped alleviate the serious mouse shortage that had existed, and DSRTF and the KSS Foundation thank NICHD for the increase in funding.

NINDS also responded to the recommendations of Congress to expand neuro-biological cognition research on Down syndrome. In February of 2005, NINDS sponsored a well-attended workshop on synaptic function and cognition relating to Down syndrome. The workshop was an initial step toward identifying research priorities for Down syndrome within NINDS. A report of the workshop is expected soon.

NIH Needs to Develop a Strategic Plan for Down Syndrome Research on Cognition

While DSRTF and the KSS Foundation are encouraged that NIH has begun to recognize the importance of Down syndrome research on cognition, we continue to believe that it has not adequately addressed the need to develop an overall strategic plan for Down syndrome cognition research that coordinates the work of all its Institutes. On its Web site, the NIH lists its estimates for funding for various diseases, conditions and research areas. With regard to Down syndrome, NIH claims that it spent $23 million on all Down syndrome research in FY03, $19 million in FY04, and $20 million in FY05. A breakdown as to how this money was spent – i.e. which areas of Down syndrome research were funded -- was not provided by NIH. However, a recent private study on how those funds break down reveals that in 2004, 83 NIH grants funded Down syndrome research, but only 62 grants primarily focused on Down syndrome research projects. Of those 62 grants, only 36 focused on cognition.

Clearly, NIH has not made Down syndrome cognition research a priority, even though this research provides the clearest avenue and the best hope for treatments that will significantly improve the quality of life for people with Down syndrome. Researchers and parent advocates agree that in order to solve the neurological problems posed by Down syndrome, NIH must develop a new research agenda – one that sets priorities and goals, emphasizes coordination among the Institutes, sets a timeline, and allocates sufficient resources for implementation. This Subcommittee has encouraged NIH to develop a new research initiative for Down syndrome research, but we have not seen evidence that this is taking place in NIH. It is time for Congress to direct NIH to develop a strategic plan for Down syndrome research on cognition.

NIH Models for a Down Syndrome Strategic Plan

NIH has several models for strategic planning from which it can formulate an initiative for Down syndrome research on cognition, such as those for obesity and Parkinson’s Disease. The purpose of a strategic plan is to identify and prioritize the areas of greatest scientific opportunity for developing treatments and to provide a guide for coordinating Down syndrome research on cognition across the NIH. The plan should also present a multi-disciplinary and translational research agenda that addresses the neuro-biological problems caused by gene expression in the brain. It should include short-term, intermediate and long-term goals for basic and clinical research, along with strategies for achieving those goals and timeframes for achieving them. Moreover, the plan should maximize collaboration among the NIH Institutes to capitalize on their expertise and help identify research priorities for the future. This is especially important for Down syndrome research, because it is a disorder that is studied by several Institutes, including NICHD, NINDS, NIA, NIMH, NHGRI and others. It is for this reason that we believe that the Director’s Office should be responsible for developing and implementing the strategic plan for Down syndrome research on cognition.

The Creation of a Down Syndrome Task Force

We recommend that the strategic plan be developed through a Down Syndrome Task force appointed by the Director and reporting to the Director. Representatives from NICHD, NINDS, NIA, NIMH, and NHGRI should be included on the task force. The task force should include intramural and extramural scientists, clinician-scientists, and clinicians that care for people with Down syndrome. The task force would establish as a priority research projects that address directly aspects of neurobiology that are linked to understanding and treating cognitive failure. Thus, it would define the gaps in understanding of pathogenesis of cognitive dysfunction, determine which of these gaps could be filled using existing tools and concepts, and determine which of the gaps, if filled, could lead not only to a better understanding of abnormal cognition but also to effective treatments. The task force should aggressively seek out collaborators from among current NIH grantees. We also recommend that a mechanism be developed to receive regular input from parent advocate groups that support Down syndrome research on cognition. The task force may also see the need for the development of special Core facilities for mouse or tissue banks or new clinical research databases to support and accelerate the work.

 
Congressional Funding for Future Down Syndrome Research on Cognition

DSRTF and the KSS Foundation support increased congressional funding for Down syndrome research on cognition, but we also recognize that future budget constraints may produce relatively flat funding for NIH over the next several years. Nevertheless, we believe that much can be accomplished at NIH by developing a strategic plan for Down syndrome research on cognition and by directing future grant money to peer-reviewed research that fulfills the research objectives of the plan. By refining the priority-setting process for Down syndrome research, encouraging collaboration among the Institutes, and placing an emphasis on translational research, NIH can address the emerging challenges and opportunities of Down syndrome research. As Dr. Zerhouni testified before the House Energy and Commerce Committee on March 17, 2005, “…[W]e are now using trans-NIH resources to address emerging challenges and opportunities. These new areas of investment involve research that no single Institute can support alone, but that all of NIH needs to pursue because of the impact on all diseases and scientific areas of inquiry.”

The Importance of Epidemiological Research on Down Syndrome

 Epidemiological studies on Down syndrome are critical to advancing Down syndrome research. This is why last year we asked this Subcommittee to appropriate funding for two important epidemiological studies of Down syndrome at the Centers for Disease Control and Prevention, National Center for Birth Defects and Development Disabilities. DSRTF and the KSS Foundation thank the Subcommittee and the conferees for including in the FY05 Omnibus Appropriations bill $1 million for the two studies. I would like to briefly update the Subcommittee on the progress being made on these studies.

The first study will be completed at the end of this fiscal year and will estimate the number of people in the United States with Down syndrome and identify them by age and ethnic group. The second study will document the onset and course of secondary and related developmental and mental disorders in individuals with Down syndrome. Grants for this second study will be awarded this fall. At this stage in the grant process, the CDC has received several letters of intent from scientists expressing an interest in participating in the second study, and the agency has found that these initial proposals are worthy of further development.

Funding for the co-morbidity study during FY05 will not be sufficient to complete the data gathering necessary to fully document the onset of secondary and related disorders associated with Down syndrome. For this reason, we ask that the Subcommittee support continued funding of an additional $1 million for the study for FY06. The data from the co-morbidity study will be useful in indicating certain risk factors associated with Down syndrome that may require assessment and will be helpful in understanding the possible associations between the incidence of Down syndrome and other disorders.

 
Conclusion

I thank the Subcommittee for its support of Down syndrome research, both at the NIH and the CDC. Because of your support, there is a new recognition within these agencies of the importance and benefits of Down syndrome research. I encourage the Subcommittee to include language in your report for FY06 directing the NIH to develop a strategic plan for Down syndrome research on cognition and to establish a time frame for NIH to report back to the Subcommittee.