TY - JOUR
T1 - Down syndrome
T2 - National conference on patient registries, research databases, and biobanks
AU - Oster-Granite, Mary Lou
AU - Parisi, Melissa A.
AU - Abbeduto, Leonard
AU - Berlin, Dorit S.
AU - Bodine, Cathy
AU - Bynum, Dana
AU - Capone, George
AU - Collier, Elaine
AU - Hall, Dan
AU - Kaeser, Lisa
AU - Kaufmann, Petra
AU - Krischer, Jeffrey
AU - Livingston, Michelle
AU - McCabe, Linda L.
AU - Pace, Jill
AU - Pfenninger, Karl
AU - Rasmussen, Sonja A.
AU - Reeves, Roger H.
AU - Rubinstein, Yaffa
AU - Sherman, Stephanie
AU - Terry, Sharon F.
AU - SieWhitten, Michelle
AU - Williams, Stephen
AU - McCabe, Edward R.B.
AU - Maddox, Yvonne T.
N1 - Funding Information:
The material presented at the conference was supported, in part, by: the Waisman Intellectual and Developmental Disabilities Research Center ( P30HD003552 ; L. Abbeduto); the NIGMS Human Genetic Cell Repository Contract ( HHS-N263-2009-00026C ; D. Berlin); the Rehabilitation Engineering Research Center for Advancing Cognitive Technologies, National Institute on Disability and Rehabilitation Research, US Department of Energy ( H133E090003 ; C. Bodine); the Rare Diseases Clinical Research Network Data Management and Coordinating Center ( U54NS064808 ; J. Krischer); the Colorado Clinical and Translational Science Institute ( UL1RR025780 ; K. Pfenninger), the Children’s Hospital Research Institute (Aurora, CO; K. Pfenninger), the Coleman Institute for Cognitive Disabilities (Boulder, CO; K. Pfenninger), the University of Colorado School of Medicine-Dean’s Academic Enrichment fund , and the Department of Pediatrics (K. Pfenninger); the Health Resources and Services Administration cooperative agreement (U35MC15451; S. Terry). Funding for the NICHD Brain and Tissue Bank for Developmental Disorders as discussed by M.Parisi is provided by NICHD contract HHS-N275-2009-00011C.
Funding Information:
This 2-day conference was sponsored jointly by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH), and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome and held in Bethesda, MD. The focus of this conference was to discuss three types of organized support for research: contact registries, research databases, and biobanks. Contact registries often are formed and maintained by organizations and researchers to facilitate participation by individuals in research projects or clinical trials. Often one significant outcome of a contact registry is to facilitate communication among families and self-advocates who share information about their condition with one another. Research databases are created by researchers and clinicians as outcomes of specific projects that have a defined question or to gather standardized longitudinal information about the natural history of a given condition. Biobanks consist of repositories of samples of tissues, organs, or fluids collected from individual donors during life or by donation after death.
Funding Information:
We thank the conference attendees for active participation and contribution of ideas, Palladian Partners for administrative and logistical support, and the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the Global Down Syndrome Foundation for their organizational and financial support of the conference.
PY - 2011/9
Y1 - 2011/9
N2 - 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.
AB - 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.
KW - Biobank
KW - Database
KW - Down syndrome
KW - Registry
KW - Trisomy 21
UR - http://www.scopus.com/inward/record.url?scp=80052523015&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80052523015&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2011.07.005
DO - 10.1016/j.ymgme.2011.07.005
M3 - Article
C2 - 21835664
AN - SCOPUS:80052523015
SN - 1096-7192
VL - 104
SP - 13
EP - 22
JO - Molecular genetics and metabolism
JF - Molecular genetics and metabolism
IS - 1-2
ER -