April 28, 2015
Photo of McGowan Shapiro Hart and Kelly.
Diseases Advocacy Alliance. Also pictured (from left): Dr. Jay Shapiro, Tracy Hart and Jack Kelly.

On March 18, 2015, Joan McGowan, Ph.D., Director of the NIAMS Division of Musculoskeletal Diseases, presented during a Congressional briefing on rare bone diseases. She introduced the audience to the NIH and the NIAMS’ work on rare bone diseases. She also shared recent scientific advances that may lead to novel treatments. The briefing was sponsored by the Rare Bone Diseases Advocacy Alliance and moderated by Tracy Hart, CEO of the Osteogenesis Imperfecta Foundation.

Representatives Leonard Lance (R-NJ) and Joseph Crowley (D-NY), co-chairs of the Congressional Rare Diseases Caucus, both attended the event and spoke about the importance of the ongoing 21st Century Cures effort through the House Energy and Commerce Committee. They discussed the bipartisan nature of the initiative, and its focus on supporting individuals with rare diseases. Jay Shapiro, M.D., Director of the Osteogenesis Imperfecta Program at the Kennedy Krieger Institute, Johns Hopkins University, discussed challenges in provider education and diagnosis of rare bone diseases. He also highlighted examples of treatment success stories and new opportunities. Jack Kelly, President of the Lymphangiomatosis & Gorham’s Disease Alliance, addressed the need for raising awareness about rare bone diseases and organizing patient communities to participate in medical research. To close the session, Elspeth Birdsdall, Chair of the OsteoPETrosis Society, provided her personal perspective of living with a rare bone disease. She called for expanded research into treatments and new ways to foster and reward collaboration with patients in research.