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Vol. LXI, No. 22
October 30, 2009

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Conference Promotes Collaboration to Advance Rare Diseases Research

Dr. Stephen Groft, director of the Office of Rare Diseases Research, discusses the Rare Diseases Clinical Research Network, which is reinvigorating the field.
Dr. Stephen Groft, director of the Office of Rare Diseases Research, discusses the Rare Diseases Clinical Research Network, which is reinvigorating the field.

Rare diseases affect between 25 million and 30 million Americans. These conditions can be difficult to diagnose and treat. The Rare Diseases Clinical Research Network (RDCRN) supports research to address these challenges. This collaborative network of multiple research consortia, each focusing on a subset of rare diseases, conducts studies to discover disease mechanisms, develop diagnostics, identify biomarkers and test new treatments. It also trains new investigators in rare diseases research. Collaboration across disease boundaries and among investigators, patient advocacy groups and patients has been integral to the network’s success.

Recently, a conference on Advancing Rare Diseases Research through Networks and Collaboration highlighted successes and lessons learned in the network’s first 5 years. Sponsored by the National Center for Research Resources and the NIH Office of Rare Diseases Research (ORDR), the conference brought together investigators, coordinators, patient advocacy groups and government leaders to discuss the challenges and opportunities in studying rare diseases. Topics included study design and conduct, patient recruitment and careers in rare diseases research. Strategies for forming effective teams, sharing best practices, advancing basic research to clinical testing and disseminating results into practice also were discussed.

Many speakers said collaboration—across disciplines, across geographic regions and among partners—was vital to advancing research. Information must reach stakeholders, whether they are collaborating investigators, research or industry partners, patients, primary care physicians and nurses or funding agencies.

“It can be challenging to design, recruit and conduct research studies—especially when those involve rare diseases,” said NCRR director Dr. Barbara Alving. “To facilitate this process, RDCRN connects researchers to large numbers of patients and provides opportunities for these individuals to participate in studies that can advance our understanding and lead to new ways to prevent, diagnose and treat these conditions.”

Looking to the future, ORDR, in collaboration with many NIH institutes and centers, will soon announce the next round of RDCRN grants. “We are at the beginning of a new era with a renewed emphasis on rare diseases,” said Dr. Stephen Groft, director of ORDR.

Dr. Alan Guttmacher, acting director of the National Human Genome Research Institute, closed the meeting by noting that the lessons learned by RDCRN could help many translational researchers. “You are spearheading the golden age of research, not just for rare diseases, but for common ones as well.”

To view a videocast of the conference, visit NIHRecord Icon

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