Down syndrome: National conference on patient registries, research databases, and biobanks

Abstract

A December 2010 meeting, “Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks,” was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denver, CO. Approximately 70 attendees and organizers from various advocacy groups, federal agencies (Centers for Disease Control and Prevention, and various NIH Institutes, Centers, and Offices), members of industry, clinicians, and researchers from various academic institutions were greeted by Drs. Yvonne Maddox, Deputy Director of NICHD, and Edward McCabe, Executive Director of the Linda Crnic Institute for Down Syndrome. They charged the participants to focus on the separate issues of contact registries, research databases, and biobanks through both podium presentations and breakout session discussions. Among the breakout groups for each of the major sessions, participants were asked to generate responses to questions posed by the organizers concerning these three research resources as they related to Down syndrome and then to report back to the group at large with a summary of their discussions. This report represents a synthesis of the discussions and suggested approaches formulated by the group as a whole.

Interindividual Variability in the Cardiac Expression of Anthracycline Reductases in Donors With and Without Down Syndrome

“…Our procurement rates for samples from donors with- DS is low (≈ 1 sample every 9 – 12 months), even after working with national cooperative resources such as NDRI, CHTN, and the NICHD Brain and Tissue Bank. The scarcity of representative tissue samples from donors with- DS continues to impair the execution of large-scale quantitative studies to tackle fundamental topics related to the metabolism and disposition of commonly used drugs in this group of subjects (36, 37). Second, studies based on the use of tissue samples from cadaveric donors are prone to many issues including, but not limited to sample degradation, incomplete/null medical histories and/or demographics, use of concomitant medications/drugs/smoking status.…”

Trisomy 21 Mosaicism: We May All Have a Touch of Down Syndrome

“…It is now well recognized that DS is the most common genetic reason for learning disability, estimated to affect around 1/550-1/1,000 newborns worldwide [Oster-Granite et al, 2011]. Numerous studies have implicated that the majority of people diagnosed as having the typical features of DS carry the extra chromosome in all their body cells.…”

Estimation of the number of people with Down syndrome in the United States

“…5 No population-based registry exists for people with DS in the United States, although the need has been highlighted at national conferences. 6,7 In a recent study, de Graaf et al 8 used and validated an alternative approach for the United Kingdom, the Netherlands, and Ireland. In estimating population prevalence, the model uses maternal-age birth data in the general population, maternal age-related chances for a live birth with DS, data regarding elective terminations, and DS-specific mortality rates.…”