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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. [Copyright &y& Elsevier]

This paper summarizes a conference held at the National Institute of Child Health and Human Development on December 6–7, 1999, on self-injurious behavior [SIB] in developmental disabilities. Twenty-six of the top researchers in the U.S. from this field representing 13 different disciplines discussed environmental mechanisms, epidemiology, behavioral and pharmacological intervention strategies, neurochemical substrates, genetic syndromes in which SIB is a prominent behavioral phenotype, neurobiological and neurodevelopmental factors affecting SIB in humans as well as a variety of animal models of SIB. Findings over the last decade, especially new discoveries since 1995, were emphasized. SIB is a rapidly growing area of scientific interest to both basic and applied researchers. In many respects it is a model for the study of gene–brain–behavior relationships in developmental disabilities. MRDD Research Reviews 7:3–12, 2001. © 2001 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

This review describes the alterations that occur in a variety of neurotransmitter systems in mouse trisomy 16 and compares those alterations with ones observed in individuals with Down syndrome (Trisomy 21) and Alzheimer's disease. Individuals with Down syndrome who survive into their fourth decade invariably have the neuro pathologic and neuro chemical features associated with Alzheimer's disease. Thus, comparative studies may provide insight into pathogenetic mechanisms common to alt three conditions. These neurotransmitter alterations are accompanied by neuro anatomical as well as neuro physiological alterations in Down syndrome, AIzheimer's disease, and mouse trisomy 16. Because mice with complete trisomy 16 do not survive the perinatal period, Ts16 neurons placed in culture, as well as primary and secondary chimera; composed in part of Ts16 cells, have also been examined for neurotransmitter alterations. Like individuals with Down syndrome, mice with trisomy 16 have triplication of a constellation of genes that have remained together in the same order for roughly 80 million years. As more of these genes have been identified and localized to specific regions of human chromosome 21 and, In seine cases, to mouse chromosome 16 as well, efforts have been made to create mice that are transgenic for these individual genes, so that the effects of over expression of single genes can be studied. Studies of several of these different types of transgenic mice have begun to provide insight into the mechanisms by which neurotransmitter alterations may arise in Ts 16 mice, and by extrapolation, in DS indrviduals as well. [ABSTRACT FROM AUTHOR]

Abstract: The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC’s accomplishments over the first 6years, including how the Consortium was developed and organized, clinical research studies initiated, and the importance of creating partnerships with patient advocacy groups, philanthropic foundations and biotech and pharmaceutical companies. [Copyright &y& Elsevier]