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NIH Conference Highlights Challenges, Opportunities of Rare Disease Research

By September 29, 2010December 5th, 2023Awareness

On September 21st, the National Institutes of Health hosted the 2nd Annual Conference on Clinical Research for Rare Diseases. This meeting focused on the status of the NIH-funded Rare Disease Clinical Research Network (RDCRN) a collaborative network of research centers focused on finding treatments for a range of rare diseases.  Rare diseases are defined by the federal government as any condition, disorder or disease affecting less than 200,000 Americans, and though neurofibromatosis is not currently part of RDCRN, as it expands this is a program from which neurofibromatosis can potentially benefit.  In the meantime, this meeting offered insight into progress made by the network as well as some of the challenges encountered along the way – experiences from which we can learn. I delivered a presentation  at the meeting entitled “Neurofibromatosis Networking” highlighting the Children’s Tumor Foundation’s bench-to-beside programs for finding neurofibromatosis treatments, including the NF Clinic Network and NF Preclinical Consortium.

A brief summary of topics reviewed at the Conference will be posted here over the next week.  Today: About RDCRN.

About RDCRN:

The Rare Disease Clinical Research Network RDCRN (for more information visit was first established in 2003, and through ongoing NIH funding via the RDCRN program, has grown to include 19 consortia, each linking a number of research centers. Each RDCRN consortia encompasses a number of very rare but related rare diseases –such as the Vasculitis Clinical Research Consortium; Angelman, Rett and Prader-Willi Consortium; and the North American Mitochondrial Diseases Consortium. A coalition of patient advocacy groups representing these rare diseases are vital partners in the network, in helping set the agenda and providing a link to the affected families.

More recently RDCRN has received support from another major funding source, the NIH Clinical and Translational Research Awards (CTSA) program. There are 60 NIH funded  CTSA sites across the United States aimed at funding ‘bench to bedside’ research teams to find treatments for an array of diseases. To date, rare disease research has not been a focus of CTSAs but looking ahead this should change as a Rare Disease Working Group has been established to bring CTSA investigators to rare disease and build partnerships across sites. CTSA is currently examining how to improve engagement of patients in rare disease research; streamlining data collection and enrollment; and coding and sharing of banked tissues.

Tomorrow: The Opportunity and Challenges of Rare Disease Research.