How to find the research consortium studying your disease or disorder: Use the menu below to view the diseases or disorders being studied by each consortium. Clicking on a disease or disorder name will take you directly to a description of that disease or disorder provided by the consortium that studies it.
For addtional information on a specified disease, click the disease link associated with that study, or use our disease search tool.
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
The consortium you are looking for may no longer be a member of the Rare Diseases Clinical Research Network. It is important to the RDCRN that information on any current research by our former partners continue to be available to our patients and families.
Below is the most current information we have for available web sites and points of contact so that you may continue to be in contact with your rare disease consortium.
Rett Syndrome is now being studied by the Rett Syndrome, MECP2 Duplications, & Rett-related Disorders Consortium
For information on Prader-Willi Syndrome, please see tab below.
John Pellecchia, MS
Department of Translational Hematology and Oncology Research
Taussig Cancer Institute
9500 Euclid Avenue/Desk R40
Fax: 216- 636-2498
For Patient Advocacy, Education & Referral Contact:
Aplastic Anemia & MDS International Foundation, Inc.
The Cholestatic Liver Disease Consortium (CLiC) is now part of ChiLDREN, the Childhood Liver Disease Research and Education Network. The new and expanded network combines CLiC and the Biliary Atresia Research Consortium (BARC), as well as new studies on cystic fibrosis liver disease. This consolidation seeks to facilitate the discovery of new diagnostics, etiologic, and treatment options for children with rare liver diseases, and those who undergo liver transplantation, and to train the next generation of investigators in rare pediatric liver diseases.
Joan M. Hines, MPH
Children's Hospital Colorado
Section of Pediatric Gastroenterology/Hepatology/Nutrition
13123 East 16th Avenue, B290
Aurora, Colorado 80045
PO Box 19024
Seattle, WA 98109-1024
Kimberly Hart, MA
Sr. Information Analyst
FOR-DMD Contracts and Regulatory Manager
University of Rochester Medical Center
Neuro-Central Admin Research
Channelopathy and Muscle Study Projects
265 Crittenden Blvd
Rochester, NY 14642-0669
For more information on the clinical study: Natural History of and Genetic Modifiers in Spinocerebellar Ataxias, please visit ClinicalTrials.gov
Dr. Tetsuo Ashizawa, MD
Dr. S.H. Subramony, MD
University of Florida
100 S Newell Dr, L3-100
Gainesville, FL 32611
URL: For information regarding future ataxia research, please visit the National Ataxia Foundation (NAF) website www.ataxia.org
Hemostasis and Thrombosis Research Center
Duke University Health System
P.O. Box 3422 DUMC
315 Trent Dr. Rm 273
Durham, NC 27710
Disorders of Androgen Excess:
Disorders of Androgen Synthesis or Action:
Maria I. New, MD
Professor of Pediatrics
Director, Adrenal Steroid Disorders Program
The Mount Sinai School of Medicine
One Gustave L. Levy Place, Box 1198
New York NY 10029-6574
The Prader-Willi Syndromes Consortium you are looking for may no longer be a member of the Rare Diseases Clinical Research Network. It is important to the RDCRN that information on any current research by our former partners continue to be available to our patients and families.
Below is the most current information we have for available web sites and points of contact so that you may continue to be in contact with PWSC.
The RDCRN Contact Registry is a method by which patients with rare diseases can register themselves with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.
You (or your child) are invited to participate in a research project that will develop a nation-wide contact registry for patients.
Beverly P. Giordano, ARNP
Clinical Research Coordinator
Division of Pediatric Genetics
Department of Pediatrics
University of Florida
Adel El-Naggar MD, PhD
University of Texas MD Anderson Cancer Center
1515 Holcombe Boulevard, Unit 85, G1.3561A
Houston, TX, 77030-4009