Feb. 22, 2017: Catalyzing Progress on Rare Diseases across the Globe

“Translation is a team sport.” This is never more true than in research on rare diseases (defined as affecting fewer than 200,000 people in the U.S.) since people affected by, and researchers working on, any particular rare disease are by definition few and far between. The good news is that new scientific and communication platforms have made the formation and operation of widely dispersed research teams possible, and that sharing of information and expertise among these teams is starting to yield progress that was unimaginable only a decade ago.  

Two special events on either side of the Atlantic this month demonstrate the exciting progress being made in collaborative rare diseases research in the U.S. and across the world.

This Monday, February 27, NCATS and the NIH Clinical Center will host the 2017 celebration of Rare Disease Day at NIH. With the theme “Patients & Researchers — Partners for Life,” the event will include researchers, patients and their advocates, and policymakers, and will feature presentations, poster sessions, exhibits and even an art show. Please join us, and follow the event on social media using #RDDNIH. Rare Disease Day is an annual event observed around the world to raise awareness about rare diseases and their impact on patients’ lives, and research to improve the diagnosis, care and treatment of rare disease patients. At NIH, it serves as a day to bring together and highlight all the NIH Institutes and Centers that perform and support research on rare diseases.

Rare diseases are estimated to affect more than 350 million people worldwide, making understanding and treating rare diseases a global imperative. Earlier this month, I had the privilege of chairing a global conference of the International Rare Diseases Research Consortium (IRDiRC), which brings together funding agencies, patient groups, companies and scientists from around the world to share their insights and coordinate their work to accelerate progress in rare diseases. The underlying philosophy of IRDiRC is similar to that of NCATS: that more treatments will get to more patients more quickly via teamwork that improves the efficiency and effectiveness of the translational process. The IRDiRC global conference in Paris was enormously exciting, as participants both reported on remarkable new technologies that are greatly accelerating progress in rare disease diagnosis and therapy and demonstrated global eagerness to work together to make that progress a reality for all those living with rare diseases. IRDiRC is now in the process of finalizing ambitious new goals for the next decade, which I look forward to sharing with you when they are announced later this year.

Connect with NCATS often to learn more about our commitment to rare diseases research, including through our Genetic and Rare Diseases Information Center, the Rare Diseases Clinical Research NetworkTherapeutics for Rare and Neglected Diseases initiative, the Clinical and Translational Science Awards Program, and more.

Christopher P. Austin, M.D. 
National Center for Advancing Translational Sciences