Importance for Down Syndrome Biomedical Research and New Opportunities
On September 25, 2009, the Trisomy 21 Translational Research Parity Act of 2009, or the “21 Act” (H.R. 3656) was introduced in the US House of Representatives by Representatives Cathy McMorris Rodgers (R-WA), Patrick Kennedy (D-RI), and Pete Sessions (R-TX). A companion bill (S. 1762) was introduced on October 7, 2009 in the US Senate by Senators Sam Brownback (R-KS) and Sherrod Brown (D-OH). The “21 Act” represents an important critical step in expanding and coordinating Federal support for Down syndrome biomedical research, including translational research to convert the results of basic biomedical research through clinical trials into new therapies, and specifically includes:
- Development and initial funding for a National Down Syndrome Patient Registry and Biobank;
- Establishment of at least six Down Syndrome Translational Research Centers of Excellence; and,
- Establishment of a Down Syndrome Coordinating Committee to coordinate activities across the National Institutes of Health, Centers for Disease Control and with other Federal health programs and activities relating to Down syndrome.
The text of the “21 Act” can be found through this link. A summary is attached below.
The Down Syndrome Research and Treatment Foundation (DSRTF) has worked closely with the sponsors of the legislation, as well as Down syndrome organizations and biomedical researchers and physicians to ensure this legislation addresses critical needs for advancing new and recent biomedical research progress and potential new therapies for all individuals with Down syndrome.
How you can help:
We need to educate Members of Congress on the importance of enacting the Trisomy 21 Translational Research Parity Act of 2009. There is much that yet needs to be accomplished to promote passage of this new “21 Act”. Additionally, while the recently introduced “21 Act” includes initial funding appropriations for the National Down Syndrome Registry and Biobank, specific funding appropriations for the Down Syndrome Translational Research Centers of Excellence will require additional Congressional action. As you know, NIH funding for Down syndrome biomedical research has been, and continues to be, disproportionately and extremely low. We must continue to work together to increase Federal funding.
You can support this effort by contacting your Senators and Representative to ask that they join as co-sponsors of this legislation. You can easily find contact information for your Senators and Representative and use the supporting draft email/letter through this link.
If your House Representative is not already a member of the Congressional Down Syndrome Caucus, this may also provide a great opportunity for you to include an additional note or separate email asking that they join the Congressional Down Syndrome Caucus. To see whether or not your Representative may already be a member of the Caucus, you can review the current list of members through this link.
Since being founded in 2004, DSRTF has become the largest non-governmental source of funding Down syndrome biomedical research focused on cognition and generated more than $5.6 million to fund critically needed major new results-driven research, with exciting advances, to improve cognition for individuals with Down syndrome. As DSRTF continues to grow and advance its efforts with your much appreciated support, it is also critical that increased Federal funding for Down syndrome biomedical research becomes a reality to sustain and extend new advances to create deserved new opportunities for all individuals with Down syndrome. Thank you for your efforts and help.
Trisomy 21 Translational Research Parity Act of 2009 (S. 1762/H. 3656) – Summary
Down syndrome, or Trisomy 21, as it is called within the medical community, is caused by an extra copy of the 21st chromosome. There are more than 400,000 people living with Down syndrome in the US. An error in cell division, called non-disjunction, happens during development of reproductive cells prior to conception for reasons which we still do not understand. The extra chromosome causes varying degrees of cognitive impairment and physical abnormalities.
Persons with Down syndrome can also have a wide range of health problems, including congenital heart defects, obstructed digestive systems, thyroid conditions, hearing problems, leukemia, increased susceptibility to infection, sleep apnea, and respiratory problems. Individuals with Down syndrome also are at a higher risk of developing Alzheimer’s disease, epilepsy, autism, and many neurological and psychiatric disorders, including obsessive-compulsive disorder and depression.
The Trisomy 21 Translational Research Parity Act of 2009 (the 21 Act) would establish an infrastructure within the Department of Health and Human Services (HHS) to facilitate results-oriented research, forge new partnerships between academic institutions and clinics to work together to conduct translational research, produce targeted-funding opportunities, and help to develop new interventions, treatments, and therapeutics for Down syndrome.
Translational Research: The creation of Down Syndrome Centers of Excellence at the NIH would integrate basic and translational research and move findings efficiently toward clinical applications in Down syndrome. Research conducted on Down syndrome may also have spinoffs that increase knowledge about other areas of research, diseases, and conditions. Through outreach and communication efforts, the Centers will inform researchers and the public of scientific advances and improvements in medical care.
As you may know, the Children’s Health Act of 2000 (Public Law 106-310) amended the Public Health Service Act and included a number of provisions that addressed the research and surveillance needs of many disabilities (e.g., autism, traumatic brain injury, Fragile X, juvenile diabetes, asthma, epilepsy). However, this landmark legislation did not address the significant research, surveillance, and clinical care needs of Down syndrome and thus has been an impediment to progress in the Down syndrome research community over the last decade. The 21 Actattempts to incorporate Down syndrome as an area of permissible research and surveillance at the National Institutes of Health and the Centers for Disease Control and Prevention and will foster a better understanding of Down syndrome.
Coordination: The 21 Act would expand, intensify, and coordinate translational research on Down syndrome across government, academic institutions, Down syndrome clinics, and industry. Research and funding would be supported by administrative and program staff at the Department of Health and Human Services (HHS) and the individual NIH Institutes and Centers. The bill also calls for the establishment of a Down Syndrome Coordinating Committee, which includes Federal agencies and members of the public appointed by the HHS Secretary, to coordinate activities across Federal health programs and activities relating to Down syndrome.
Surveillance: The 21 Act would provide resources to build a National Down Syndrome Epidemiology program by constructing a National Down Syndrome Patient Registry and Biobank, through cooperative agreements at the CDC. The National Down Syndrome Patient Registry and Biobank would:
- Establish a centralized or distributed brain, cell, tissue, DNA, and RNA bank;
- Characterize a cohort of patients for genotype-phenotype investigations to inter-operate with the bank; and
- Correlate the nature and severity of cognitive deficits and age of onset and severity of dementia.
This comprehensive surveillance program would enhance the clinical care for patients with Down syndrome, help coordinate research and clinical activities through the Down Syndrome Translational Research Centers of Excellence with the activities of the registry and biobank, and create a common data entry and management system for Down syndrome patient data collection and analysis.