Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey Krischer, Hye Seung Lee, Cynthia LeMons, Matthias Baumgartner, Stephen Cederbaum, George A. Diaz, Annette Feigenbaum, Renata C. Gallagher, Cary O. Harding, Douglas S. Kerr, Brendan Lanpher, Brendan Lee, Uta Lichter-Konecki, Shawn E. McCandless, J. Lawrence Merritt, Mary Lou Oster-Granite, Margretta R. SeashoreTamar Stricker, Marshall Summar, Susan Waisbren, Marc Yudkoff, Mark L. Batshaw

Research output: Contribution to journalReview article

51 Scopus citations

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 6 years, 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.

Original languageEnglish (US)
Pages (from-to)S97-S105
JournalMolecular Genetics and Metabolism
Volume100
Issue numberSUPPL.
DOIs
StatePublished - Feb 26 2010

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Keywords

  • Rare disease
  • Urea cycle disorder

ASJC Scopus subject areas

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

Cite this

Seminara, J., Tuchman, M., Krivitzky, L., Krischer, J., Lee, H. S., LeMons, C., Baumgartner, M., Cederbaum, S., Diaz, G. A., Feigenbaum, A., Gallagher, R. C., Harding, C. O., Kerr, D. S., Lanpher, B., Lee, B., Lichter-Konecki, U., McCandless, S. E., Merritt, J. L., Oster-Granite, M. L., ... Batshaw, M. L. (2010). Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Molecular Genetics and Metabolism, 100(SUPPL.), S97-S105. https://doi.org/10.1016/j.ymgme.2010.01.014