Newsletter of the NIH Rare Diseases Clinical Research Network Volume 2, Issue 1. Spring 2011

www.RareDiseasesNetwork.org

In This Issue

Welcome Spotlight on an RDCRN Consortium: CINCH How Does A Rare Disease Consortium Work? Urea Cycle Disorders Consortium Benefits from CTSA Leverage Coalition of Patient Advocacy Groups (CPAG) in the Spotlight The Office of Rare Diseases Research (ORDR) RDCRN Opens 30 New Studies for Patient Accrual

About Spotlight

Past Issues

 

Rare Diseases Headlines: NIH Researchers Identify genetic cause of new vascular disease – Rare disease is the first discovered in Undiagnosed Diseases Program >> More Statement Issued from the 2nd Meeting of the International Rare Diseases Research Consortium >> More

Featured Event: Rare Diseases Day 2011 >> More

Spotlight Announcements / Calendar of Events Joubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, July 13, 2011 - July 16, 2011 International Meeting on Genetic Syndromes of the Ras/MAPK Pathway, July 29, 2011 - July 31, 2011 End of Life Palliative Care National Science Summit, August 10, 2011 - August 12, 2011 >> View More News and Events

Spotlight - Volume 2, Issue 1. Spring 2011

In this issue of Spotlight on Rare Diseases, we begin a series that will introduce the 19 current Rare Disease Clinical Research Consortia. This network, overseen by the Office of Rare Disease Research and the categorical institutes, is the largest such program ever undertaken in the rare disease field. We believe it is valuable for the scientific community and patients and caregivers to be aware of what the Rare Disease Clinical Research Consortium Network is doing.

Five of the 19 consortia received initial funding in 2003 and have been refunded during the current five year period. The remaining 14 were funded in 2008. We will introduce one in each issue, beginning with the five original programs. The first one is the Clinical Investigation of Neurological Channelopathies (CINCH) Consortium directed by Robert C. Griggs, M.D.

Dr. Griggs’ model is an important one for those who wish to develop future consortia. In the lead article in this issue he describes how he went about building the CINCH rare disease consortium, how the Data Management Coordinating Center (DMCC) interacted with him to facilitate this and some of the progress that has been made due to the effectiveness of this program. Dr. Robert C. “Berch” Griggs is chair of the Department of Neurology at the University of Rochester and is current president of the American Academy of Neurology.

David Robertson, MD

Cindy Dorminy, MEd, LPN

Spotlight is edited by David Robertson, MD, Elton Yates Professor of Medicine, Pharmacology and Neurology and Director of the Clinical and Translational Research Center of Vanderbilt University's Clinical and Translational Science Award (CTSA). He is PI of the Autonomic Disorders Consortium. Cindy Dorminy, MEd LPN is Assistant Editor.

The staff of Spotlight are enthusiastic about the potential of our new publication to enhance communication among those interested in treatment and cure of rare diseases. We are very interested in your thoughts about how Spotlight can be improved. If you have suggestions for future issues, please let us hear from you. You can send your comments to RDNWebmaster@epi.usf.edu.