NIH Launches Down Syndrome Patient Registry

Connecting Families and Individuals with DS to Researchers

We’re gratified and excited to pass along the news that the NIH has launched its national registry specifically for people with Down syndrome, DS-Connect. This centralized information clearinghouse has been created to facilitate communication among families, researchers, clinicians, and patient groups, and will be crucial, says DSRTF’s Chief Scientific Officer Dr. Michael Harpold, to facilitating and supporting new clinical studies and trials for the benefit of people with DS. We look forward to the enhanced information sharing it will allow, and we thank the NIH for its continued service to the DS community. Visit DS-Connect now!

The Connection between Ds and Alzheimer’s Disease

All adults with Down syndrome over 35-40 years of age develop the characteristic Alzheimer’s neuropathology, including the formation of beta-amyloid plaques, with earlier onset of dementia developing in more than 70% of individuals. Read more from a Science Daily article  and review the connections to the greater Alzheimer’s community.

Faulty Stem Cell Regulation may contribute to Cognitive Deficits Associated with Down Syndrome

Research Down Syndrome grantee Dr. Craig Garner was co-author of a just released paper out of Stanford University. The report described studies using both human skin cells and the Down syndrome mouse model Ts65Dn in deciphering the impact of a gene named Usp16 on stem cell growth. (Stem cells are unspecialized cells that renew themselves and function as a primal source of tissue or organ specific cells with special functions.) The gene Usp16 is found on human chromosome 21 and thus in triplicate copy in persons with Down syndrome. In experiments testing human cells, researchers discovered that an excess of Usp16 in cells from people without Down syndrome caused skin cells to grow more slowly. Also, reducing Usp16 in skin and nerve cells in people with Down syndrome allowed the cells to have normal growth patterns rather than to regenerate slowly.

In the model study using the Ts65Dn mouse with gene Usp16 in triplicate, researchers found that neural stem cells from the mice were less able to self-renew and grow normally than were cells from mice with a duplicate copy. When the researchers reduced the expression of Usp16 in the cells from the Ts65Dn mice to more normal levels, these functional defects were largely corrected. Dr. Garner said that the extra copy of chromosome 21 and the Usp16 gene may speed up the rate that stem cells are used during early development, exhausting the stem cell pools needed to regenerate tissues as adults. Dr. Garner stated further, "This study suggests that drug-based strategies to slow the rate of stem cell use could have profound effects on cognitive function, aging and risk for Alzheimer’s disease in people with Down syndrome".

Michael Clark M.D. was senior author of this paper.

More information on this interesting study may be found in this release issued by Stanford University:

http://med.stanford.edu/ism/2013/september/clarke.html  

NIH Launches First National Down Syndrome Registry

Exciting News from Washington, DC!! The National Down Syndrome Patient Registry is now a reality. What a tremendous step forward for research!

RDS just received this notification from Dr. Yvonne Maddox from NIH/NICHD… It says it all.

"We are thrilled to tell you that as of this morning, DS-Connect™: the Down Syndrome Registry, is up and running!

http://dsconnect.nih.gov/

Our goal has always been to improve the lives of people with Down syndrome and their families, and we hope this step will bring us closer."

Here is the text from the press release:

The National Institutes of Health has launched DS-Connect, a Web-based health registry that will serve as a national health resource for people with Down syndrome and their families, researchers, and health care providers. 

“The Down syndrome community has voiced a strong need for a centralized, secure database to store and share health information. DS-Connect fills that need, and helps link individuals with Down syndrome to the doctors and scientists working to improve their health and quality of life,” said Yvonne T. Maddox, deputy director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which funded and developed the registry.

Participation in the registry is free and voluntary. Individuals with Down syndrome, or family members, on their behalf, may sign up to create personalized profiles with information about their health histories, including symptoms, diagnoses, and medical visits. The website has been designed to ensure that all information remains confidential. The site will separate users’ names from their health information, so that individuals may compare their health information with that of all other participants in an anonymous manner. 
If participants give permission to be contacted, the registry coordinator can inform them of research studies in which they may be interested. Results from these studies will help researchers better understand Down syndrome and how to treat its accompanying health problems across the lifespan.
“DS-Connect is for people of all ages, not just children,” said Dr. Maddox. “Right now, we don’t have much data on older individuals with Down syndrome, and that’s been a problem. People with Down syndrome are living longer, and researchers and physicians will require information about the health issues and needs of these individuals to make recommendations about their health care.”

The Down Syndrome Consortium, a public-private group established in 2011 to foster the exchange of information on Down syndrome research, will be a critical player in helping to disseminate information about the registry to the Down syndrome community. The consortium includes individuals with Down syndrome and their family members, representatives from professional societies and advocacy groups, and NIH scientists.

“We’ve been fortunate to have so many experts and advocates provide input on this effort,” said Dr. Maddox. “The establishment of this registry is a tremendous step forward for Down syndrome research, and the resource will become all the more beneficial as more individuals join in the months and years ahead.”

Newly Published Results Describe Restored Cerebellar Function in Down Syndrome Mouse Model

Research Down Syndrome has been communicating progress on research funded by RDS and other organizations being conducted at Johns Hopkins University in the laboratory headed by Dr. Roger Reeves. This research has just been published in the scientific journal, Science Translational Medicine.

The study describes how a single treatment of newborn Ts65Dn mice with the Sonic hedgehog pathway agonist(or response stimulator) SAG 1.1 results in normal cerebellar morphology in adults. (The Ts65Dn Down syndrome mouse model has triplicate copies of many of the genes associated with Human chromosome 21, and the Sonic Hedgehog Pathway is an important contributor to brain cell development in the cerebellum in humans.) Also, mice treated at birth with SAG 1.1 showed behavioral improvements and normalized performance in a water maze task for learning and memory.
The positive results from this scientific study suggest a possible direction for therapeutic intervention to improve cognitive function for those with Down syndrome. As with all such animal model studies, however, the researchers caution that SAG 1.1 has yet to be proven effective in humans and that "Before a clinical application is contemplated in people with DS, it will be necessary to better understand the SAG 1.1 role in hippocampal function and the sensitivity to possible side effects on different genetic backgrounds while refining both the dosage and the route of drug administration".

Examiner.com has authored an excellent summary of this paper. 

RDS recognizes this extraordinary achievement by Dr. Reeves and his team. The study adds yet more tangible evidence to the rapid and exciting progress of Down syndrome cognitive research. Your support is more important than ever in helping sustain the momentum of this remarkable research initiative.