TY - JOUR
T1 - Establishing a consortium for the study of rare diseases
T2 - The Urea Cycle Disorders Consortium
AU - Seminara, Jennifer
AU - Tuchman, Mendel
AU - Krivitzky, Lauren
AU - Krischer, Jeffrey
AU - Lee, Hye Seung
AU - LeMons, Cynthia
AU - Baumgartner, Matthias
AU - Cederbaum, Stephen
AU - Diaz, George A.
AU - Feigenbaum, Annette
AU - Gallagher, Renata C.
AU - Harding, Cary O.
AU - Kerr, Douglas S.
AU - Lanpher, Brendan
AU - Lee, Brendan
AU - Lichter-Konecki, Uta
AU - McCandless, Shawn E.
AU - Merritt, J. Lawrence
AU - Oster-Granite, Mary Lou
AU - Seashore, Margretta R.
AU - Stricker, Tamar
AU - Summar, Marshall
AU - Waisbren, Susan
AU - Yudkoff, Marc
AU - Batshaw, Mark L.
N1 - Funding Information:
Supported by NIH grant ( U54RR019453 ) from the National Institute of Child Health and Human Development (NICHD), the Office for Rare Diseases Research (ORDR) and the National Center for Research Resources (NCRR) and by grants from the Mary Alice and Thomas A. O’Malley Family Foundation and the Kettering Fund . The authors would also like to acknowledge the contributions of the following UCDC site coordinators, neuropsychologists, fellows, co-investigators and program staff: Nicholas Ah-Mew, Vera Anastasoie, Linda Ashford, Talin Babikian, David Brieger, Linnea Brody, Karen Burk-Paull, Susan Caudle, Kristin DeFrancesco, Naghmeh Dorrani, Arlene Gendron, Karalyn Grant, Andrea Gropman, Christina Guzman, Christine Heggie, Kerstin Hildebrandt, Mohammed Hussain, Dorothee Kleiner, Harvey Levy, Yueh-Han Lin, Kara Lord, Robert McCarter, Mary Mullins, Mina Nguyen-Driver, Irma Payan, Shannon Scrivner, Kyle Shattuck, Oleg Shchelechkov, Nina Thomas, Teresa Welch-Burke, and Jennifer Woehr.
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
KW - Rare disease
KW - Urea cycle disorder
UR - http://www.scopus.com/inward/record.url?scp=77950340243&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77950340243&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2010.01.014
DO - 10.1016/j.ymgme.2010.01.014
M3 - Review article
C2 - 20188616
AN - SCOPUS:77950340243
SN - 1096-7192
VL - 100
SP - S97-S105
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - SUPPL.
ER -