Urea Cycle Consortium of the Rare Diseases Clinical Resource Network
Rare Diseases Clinical Research Network Web site is: http://www.rarediseasesnetwork.org/ The Urea Cycle Consortium of the Rare Diseases Clinical Resource Network is a nationwide network of clinics dedicated to treating patients with urea cycle disorders. The primary goals of the centers are to:
- Establish a registry and nationwide network of regional centers for the diagnosis, treatment and clinical research of urea cycle disorders
- Conduct longitudinal multidisciplinary investigations on the natural history and therapy of urea cycle disorders
- Conduct clinical trials of investigational new drugs
- Conduct a demonstration/pilot project to develop and validate a stable isotope method for measuring in vivo ureagenesis that will be important for diagnosis and classification of patients and for evaluation of treatment efficacy
- Train graduate students, pediatric residents, postdoctoral fellows and junior faculty in the field of urea cycle disorders
- Develop and maintain a Web site that will provide guidelines for health care professionals and the lay public on the diagnosis and treatment of urea cycle disorders. It will also provide links to relevant scientific literature for investigators.
The National Institutes of Health maintain an Office of Rare
Diseases tasked with providing information on current research, patient groups
and journal publications on more than 6,000 rare diseases.
Their Rare Diseases List is a good resource http://ord.aspensys.com/asp/diseases/diseases.asp
The Society of Inherited Metabolic Diseases http://www.simd.org Web site contains a list of physicians who treat inherited metabolic diseases.
Rare Diseases Centers of Excellence are located at the following
institutions:
| Site/Program | Site Principal Investigator |
| Children's National Medical Center | Mark L. Batshaw, M.D. |
| Case Western Medical College | Douglas Kerr, M.D. Case Western Reserve University Department of Biochemistry 10900 Euclid Avenue Cleveland, OH 44106-4935 Douglas.kerr@case.edu |
| Baylor College of Medicine | Brendan Lee, M.D. Ph.D. Baylor College of Medicine Department of Molecular and Human Genetics One Baylor Plaza, Rm 635E Mail Stop 225 Houston, TX 77030 Blee@bcm.edu |
| Vanderbilt University Medical Center | Marshall Summar, M.D. Vanderbilt University Medical Center Division of Medical Genetics DD-2205 Medical Center North Nashville, TN 37232 marshall.summer@vanderbuilt.edu |
| Children's Hospital of Philadelphia | Marc Yudkoff, M.D. Children's Hospital of Philadephia 3605 Civic Center Blvd Philadelphia, PA 19104 yudkoff@email.chop.edu |
| University of California Los Angeles |
Stephen Cederbaum, M.D. |
| Yale University | Margretta R. Seashore, M.D. Yale Unversity School of Medicine Department of Genetics 333 Cedar Street Room WWW305 P.O. Box 208005 New Haven, CT 06520 |
| Mount Sinai School of Medicine | George Diaz, M.D. |
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