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 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 journalArticle

51 Citations (Scopus)

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)
JournalMolecular Genetics and Metabolism
Volume100
Issue numberSUPPL.
DOIs
StatePublished - 2010

Fingerprint

Inborn Urea Cycle Disorder
Patient Advocacy
National Institutes of Health (U.S.)
Rare Diseases
Urea
Health
Research
Pharmaceutical Preparations
Industry
Clinical Studies

Keywords

  • Rare disease
  • Urea cycle disorder

ASJC Scopus subject areas

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

Cite this

Seminara, J., Tuchman, M., Krivitzky, L., Krischer, J., Lee, H. S., LeMons, C., ... Batshaw, M. L. (2010). Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Molecular Genetics and Metabolism, 100(SUPPL.). https://doi.org/10.1016/j.ymgme.2010.01.014

Establishing a consortium for the study of rare diseases : The Urea Cycle Disorders Consortium. / Seminara, Jennifer; Tuchman, Mendel; Krivitzky, Lauren; Krischer, Jeffrey; Lee, Hye Seung; LeMons, Cynthia; Baumgartner, Matthias; Cederbaum, Stephen; Diaz, George A.; Feigenbaum, Annette; Gallagher, Renata C.; Harding, Cary; Kerr, Douglas S.; Lanpher, Brendan; Lee, Brendan; Lichter-Konecki, Uta; McCandless, Shawn E.; Merritt, J. Lawrence; Oster-Granite, Mary Lou; Seashore, Margretta R.; Stricker, Tamar; Summar, Marshall; Waisbren, Susan; Yudkoff, Marc; Batshaw, Mark L.

In: Molecular Genetics and Metabolism, Vol. 100, No. SUPPL., 2010.

Research output: Contribution to journalArticle

Seminara, J, Tuchman, M, Krivitzky, L, Krischer, J, Lee, HS, LeMons, C, Baumgartner, M, Cederbaum, S, Diaz, GA, Feigenbaum, A, Gallagher, RC, Harding, C, Kerr, DS, Lanpher, B, Lee, B, Lichter-Konecki, U, McCandless, SE, Merritt, JL, Oster-Granite, ML, Seashore, MR, Stricker, T, Summar, M, Waisbren, S, Yudkoff, M & Batshaw, ML 2010, 'Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium', Molecular Genetics and Metabolism, vol. 100, no. SUPPL.. https://doi.org/10.1016/j.ymgme.2010.01.014
Seminara, Jennifer ; Tuchman, Mendel ; Krivitzky, Lauren ; Krischer, Jeffrey ; Lee, Hye Seung ; LeMons, Cynthia ; Baumgartner, Matthias ; Cederbaum, Stephen ; Diaz, George A. ; Feigenbaum, Annette ; Gallagher, Renata C. ; Harding, Cary ; Kerr, Douglas S. ; Lanpher, Brendan ; Lee, Brendan ; Lichter-Konecki, Uta ; McCandless, Shawn E. ; Merritt, J. Lawrence ; Oster-Granite, Mary Lou ; Seashore, Margretta R. ; Stricker, Tamar ; Summar, Marshall ; Waisbren, Susan ; Yudkoff, Marc ; Batshaw, Mark L. / Establishing a consortium for the study of rare diseases : The Urea Cycle Disorders Consortium. In: Molecular Genetics and Metabolism. 2010 ; Vol. 100, No. SUPPL.
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