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

Mary Lou Oster-Granite, Melissa A. Parisi, Leonard J Abbeduto, Dorit S. Berlin, Cathy Bodine, Dana Bynum, George Capone, Elaine Collier, Dan Hall, Lisa Kaeser, Petra Kaufmann, Jeffrey Krischer, Michelle Livingston, Linda L. McCabe, Jill Pace, Karl Pfenninger, Sonja A. Rasmussen, Roger H. Reeves, Yaffa Rubinstein, Stephanie ShermanSharon F. Terry, Michelle SieWhitten, Stephen Williams, Edward R B McCabe, Yvonne T. Maddox

Research output: Contribution to journalArticle

25 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)13-22
Number of pages10
JournalMolecular Genetics and Metabolism
Volume104
Issue number1-2
DOIs
StatePublished - Sep 2011
Externally publishedYes

Keywords

  • Biobank
  • Database
  • Down syndrome
  • Registry
  • Trisomy 21

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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    Oster-Granite, M. L., Parisi, M. A., Abbeduto, L. J., Berlin, D. S., Bodine, C., Bynum, D., Capone, G., Collier, E., Hall, D., Kaeser, L., Kaufmann, P., Krischer, J., Livingston, M., McCabe, L. L., Pace, J., Pfenninger, K., Rasmussen, S. A., Reeves, R. H., Rubinstein, Y., ... Maddox, Y. T. (2011). Down syndrome: National conference on patient registries, research databases, and biobanks. Molecular Genetics and Metabolism, 104(1-2), 13-22. https://doi.org/10.1016/j.ymgme.2011.07.005