In addition to self advocates, who provide a first-hand perspective on syndrome-related issues, the Down Syndrome Consortium includes the following members:
National Institutes of Health (NIH) Down Syndrome Working Group
Melissa Parisi, M.D., Ph.D., NICHD Intellectual and Developmental Disabilities Branch Chief, serves as the chair of the Consortium. Lisa Kaeser, J.D., Director of the NICHD Office of Legislation and Public Policy, is the executive secretary of the Consortium.
In early 2006, the NIH Director asked the NICHD to lead the formation of a Down Syndrome Working Group that would include scientists from across the NIH. The Working Group was charged with coordinating ongoing research already supported by the NIH related to Down syndrome, and to enhance new, NIH-supported research efforts.
The Working Group, with input from the outside scientific and family communities and at the request of Congress, created the NIH Research Plan on Down Syndrome in 2007 to focus on genetic and neurobiological research relating to the cognitive dysfunction and the progressive late-life dementia associated with the condition. The plan aimed to build upon ongoing NIH-supported research on Down syndrome, reflect the changing lives of the individuals and families affected, and take advantage of emerging scientific opportunities.
After several years of working with scientific and family communities to achieve the various goals of the plan, the NIH created the Down Syndrome Consortium to foster communication and idea-sharing among the NIH, individuals with Down syndrome and their families, national organizations interested in Down syndrome, and pediatric and other organizations.
The Consortium meets two to three times each year to discuss research findings, potential collaborations, and progress in achieving the goals described in the NIH Research Plan. The Consortium members were actively involved in evaluating and revising the original NIH Research Plan to create Down Syndrome Directions: The NIH Research Plan on Down Syndrome.
In addition, the NICHD is leading the effort to establish DS-Connect®: The Down Syndrome Registry to facilitate contacts and information sharing among families, patients, researchers and parent groups. Consortium members will be actively involved in outreach efforts to the Down syndrome community to encourage families to sign up for DS-Connect®: The Down Syndrome Registry.