NIH Establishes Down Syndrome Patient Registry

The NIH announced on October 20 that the contract has been awarded to establish a new Down Syndrome Patient Registry. The registry will allow people with Down syndrome or their family members to enter contact information and health history into a secure, on-line database. This will facilitate connections between individuals with Down syndrome and researchers.

RDS recognizes the contributions of the NICHD and the Down Syndrome Research Consortium, led by Dr. Yvonne Maddox, NICHD deputy director, for making this happen.

One step closer with a Down syndrome patient registry

Great news!  We’re excited to share the NIH’s announcement of a Down syndrome patient registry.  After close collaboration with the community to assess needs and priorities, the NIH has committed to the initial funding and development of this registry specifically for people with DS. This registry will facilitate communication among families, researchers, clinicians, and patient groups, towards the goal of making it easier for patients to learn about and take part in clinical studies for new medications and other treatments for Down syndrome.

“DSRTF is extremely grateful to the NIH for the establishment and initial funding of this registry,” says Dr. Michael M. Harpold, DSRTF’s Chief Scientific Officer, “and we very much appreciate having the opportunity to work closely with the NIH on this important initiative.  The new registry will be crucial to facilitating and supporting new clinical studies and trials for the benefit of people with Down syndrome.”

In the past year DSRTF has welcomed the chance to participate in the NIH’s Down Syndrome Consortium, which fosters the exchange of information on Down syndrome research.  We are pleased and encouraged by the NIH’s commitment to creating an environment of collaboration and progress, and energized that with this announcement, we’ve moved one step closer to an even more effective partnership among researchers, clinicians, and families.

NIH establishes Down syndrome patient registry

Directly from NIH – A registry connects individuals with Down syndrome with researchers. Read more on the NIH website.
October 26, 2012

Research Down Syndrome Announces 2012/2013 Grant Awards

Research Down Syndrome (RDS) has announced funding for six grants to support Down syndrome cognitive research. The grant total represents a fifty percent increase over grants awarded by RDS in 2011.

RDS is committed to supporting the identification of the causes of the intellectual impairments associated with Down syndrome and to facilitating the development of pharmacological therapies to improve memory, learning and communication in persons with Down syndrome. Encouraging progress has been made over a very short time. A human clinical trial was initiated in the fall of 2011, less than a decade after the support of private foundations stimulated the progress of Down syndrome cognitive research.

Research Down Syndrome, among the leading sources of private funding for Down syndrome related cognitive research, prioritizes funding towards programs with a high probability of readily contributing to the development of safe and effective therapies.  Continued private donations are needed to support the constantly expanding research efforts that will lead to potential medical treatments. The 2012/2013 RDS Research Grants include:

Johns Hopkins University School of Medicine:  RDS Research Center Grant entitled “A Down Syndrome Virtual Center for Basic and Translational Studies- Cognition and Therapies in Down Syndrome”     

University of California, San Diego School of Medicine:  RDS Research Center Grant entitled “Defining the Genes and Mechanisms Causing Neurodegeneration in Down Syndrome and Discovering Effective Treatments”

Pilot Proposal entitled “21Lab: A Collaborative Data Sharing and Data Integration Platform for the Down Syndrome Research Community”

University of Arizona:  RDS Innovation Research Grant entitled “The Neuropsychology of Down Syndrome”

Stanford University School of Medicine: RDS Innovation Research Grant entitled “Mechanisms Underlying the Roles of Sleep and Circadian Rhythms in the Learning Disability of Down Syndrome”

VA Palo Alto Health Care System: RDS Innovation Research Pilot Grant entitled “Improving Adrenergic Signaling for the Treatment of cognitive Dysfunction in Down Syndrome”

University of Texas, Austin:  RDS Innovation Research Pilot Grant entitled “Genetic Analysis of Excessive Inhibitory Signaling in Down Syndrome”

The grant summary can be found here.

Dr. Stephanie Sherman Speaks on Down Syndrome Research

Dr. Stephanie Sherman from Emory University is an RDS grantee and Principal Investigator with the Down Syndrome Cognition Project. She is playing a key role in the establishment of sites for a clinical trials network. Also, she is involved with a phenotypic specific research registry, databases and bio-banks. On Thursday, Oct. 11, she will be on BlogTalk Radio, speaking on Down syndrome Research. 

The NIH Is Listening…So Let Your Voice Be Heard

Since our founding in 2004, we at DSRTF have made it our mission to keep cognition research moving forward. As an active participant in initiatives like the National Institutes of Health’s Down syndrome consortium, we work hard to make sure research remains a priority in the national scientific agenda. Now you can join us in this effort by making your thoughts known.

Issued in 2007, the NIH’s Research Plan on Down Syndrome is currently under review to set research priorities for the next five years. The NIH has issued a request for information (RFI) soliciting comments about where the current plan succeeds, where it falls short, and what its future focus should be.

Points you may wish to consider for your response, courtesy of our Chief Scientific Officer, Dr. Michael Harpold:

• The published 2007 plan [PDF] was reasonably comprehensive regarding issues and areas of importance for Down syndrome, and the progress is appreciated. However, given both the apparent breadth and depth of the plan, NIH funding as it stands would appear to be inadequate to achieve the plan’s objectives.
• Sustained and increased support from the NIH has led to significant research progress towards understanding disorders like fragile X syndrome, cystic fibrosis, MS, and Huntington’s disease — many of which affect an equal or significantly smaller part of the population than DS. Proportionally, however, NIH funding for cystic fibrosis research is more than 50 times greater than for DS research, Huntington’s more than 35 times greater, fragile X more than 30 times greater, and so on.
  Given that Down syndrome affects more than 400,000 children and adults in the US, DS research is dramatically underfunded. Meaningfully proportionate increases in NIH funding for Down syndrome research are justified and essential.
• In concert with NIH-supported research, focused non-governmental research efforts and funding have led to unprecedented progress in cognition research, including the initiation of clinical trials. There should be a proportional increase in NIH funding and number of grants to accelerate and encourage further advances and progress in both basic and translational research.
• The cognitive disability significantly and globally affects all individuals with Down syndrome across their entire life span, justifying increased research and associated funding to explore the interrelationship of cognitive disability with other medical issues that can occur in concert with DS, such as sleep irregularities; obesity and metabolic problems; seizures, endocrine, and immune disorders.
• There has been recent progress toward developing a Down Syndrome Patient Registry and a commitment by NIH to contribute funding to initiate and establish it. Such a registry could have significant value to DS researchers and clinicians, but only if it is funded sufficiently, to the extent that it can be successfully established and operated on a multi-year basis, and with further support for research projects that will use and contribute in turn to the registry.
• Research progress has continued to demonstrate an invariable connection between Down syndrome and Alzheimer’s disease. The updated and revised plan should emphasize this more strongly, with appropriate objectives and funding to reflect the significant potential for the development of effective new therapies.
• The major revision of the NIH Down syndrome website already underway could provide an important tool to deliver more up-to-date information on Down syndrome research to the Down syndrome community as well as researchers and clinicians. A useful, comprehensive site would serve as a central clearinghouse for updates on NIH grant objectives and results; announcements of funding opportunities and initiatives; participation opportunities in clinical studies and trials; best and up-to-the-minute clinical practices; and reliable information on Down syndrome for parents and caregivers.

What areas of research are important to you and your family? What should the Plan’s objectives be? This is a rare opportunity for you to help shape the course of research directly. Your input is vital to ensure that the resulting plan reflects the concerns of the community it serves. Let the NIH know what matters to you by responding to the RFI by October 16.

Care for Persons with Down Syndrome Who Are Affected by Alzheimer

Over the last thirty years, the average life expectancy of individuals with Down syndrome increased from age twenty to over sixty. Despite the increased availability of educational, social and occupational opportunities, the cognitive impairment associated with Down syndrome precludes independent living for the majority of those with Down syndrome. The intersection between Down syndrome and Alzheimer’s disease poses an additional challenge. All persons with Down syndrome show signs of the brain pathology of Alzheimer’s disease by the age of 40. Persons with Down syndrome are 3-5 times more likely to develop Alzheimer’s, with earlier age of onset. This article describes the challenges being faced by a social care provider in California in meeting the needs of its residents with Down syndrome who are affected by Alzheimer’s. This reality challenges similar care providers across the country and the rest of the world, as persons with Down syndrome are now outliving family caregivers.

Research Down Syndrome is addressing this concern by funding scientists who are exploring the connections between Down syndrome and Alzheimer’s disease. The research goal would be the development of approved drug therapies to offset the impact of dementia experienced by persons with Down syndrome as they age.

Over the last thirty years, the average life expectancy of individuals with Down syndrome increased from age twenty to over sixty. Despite the increased availability of educational, social and occupational opportunities, the cognitive impairment associated with Down syndrome precludes independent living for the majority of those with Down syndrome. The intersection between Down syndrome and Alzheimer’s disease poses an added challenge. All persons with Down syndrome show signs of the brain pathology of Alzheimer’s disease by the age of 40. Persons with Down syndrome are 3-5 times more likely to develop Alzheimer’s, with earlier age of onset. This article describes the challenges being faced by a social care provider in California in meeting the needs of its residents with Down syndrome who are affected by Alzheimer’s. This reality challenges similar care providers across the country and the rest of the world, as persons with Down syndrome are now outliving family caregivers. 

Research Down Syndrome is addressing this concern by funding scientists who are exploring the connections between Down syndrome and Alzheimer’s disease. The research goal would be the development of approved drug therapies to offset the impact of dementia experienced by persons with Down syndrome as they age. Your generous donations are assisting RDS in this pursuit. Thank you!