NIH Panel Puts Emphasis on Importance of Collaboration in Rare Disease Research

Mathew Shanley

In a panel at Rare Disease Day at the National Institutes of Health (NIH), Marshall Summar, M.D., Chairman of the Board of Directors, National Organization for Rare Disorders (NORD); Chief, Division of Genetics and Metabolism, Children’s National Health System; and Director of the Rare Disease Institute served as the moderator for a panel about the importance of collaborating for rare disease research.

The panel, titled “Collaborating for Successful Research,” started with Dr Summar stressing the importance of teamwork and sharing significant statistics about the improvements made in rare disease diagnoses and treatment since the 1980s.

“We get more mileage out of talking to each other than more than anything else that we do,” he said. “It’s not that it’s nice to collaborate. It’s key that we share data in order to diagnose accurately and treat these patients. If we don’t have collaboration, rare disease research science falls apart.”

In his introduction, Dr Summar highlighted a few ways that patient organizations can drive the field. With data, including longitudinal natural history studies, contact registries, and comparing care and diagnosis standards, patients can inform doctors and continue to progress development of potential therapies. Additional methods included defining “care,” and pulling people together via patient meetings and explaining why rare disease research is important.

Dr Summar was later joined on stage by a panel including: Margie Frazier, Ph.D., LISW-S, Executive Director of the Batten Disease Support and Research Association; Theresa V. Strong, Ph.D., Co-Founder and Director of Research Programs of the Foundation for Prader-Willi Research; Salvatore La Rosa, Ph.D., Vice President, Research and Development of the Children’s Tumor Foundation; Kathleen Brewer, Founder and President of the Erdheim-Chester Disease (ECD) Global Alliance; and James O’Leary, M.B.A., Chief Innovation Officer of the Genetic Alliance.

Frazier shared a few experiences from patients and caregivers that she has worked with at the Batten Disease Support and Research Association, including one parent who called the condition a “K.I.F.,” short for “Kick in the Face.” She stressed the importance of families collaborating with big pharmaceutical companies and industry representatives, but also with other families.

She noted that the three cogs of rare disease research are “patients,” “funding” and “researchers,” but that the “oil” and “grease” that fuels the operation of the cogs is the energy and effort that comes out of communication and successful collaboration.

Strong, La Rosa, and Brewer each delivered statements with different ways of stressing the same common theme: employing registries, partnering with groups who focus either on advocacy or recruitment, and creating resources that can be shared with the general public, as well as researchers, scientists, doctors and pharmaceutical companies are all effective ways to increase collaboration throughout the rare disease community.

In January, after the establishment of the National Rare Disease Institute was announced, Rare Disease Report sat down with Dr Summar to discuss. In the interview, his excitement about the progress being made in rare diseases was apparent.

“The Rare Disease Institute is a first-of-its-kind clinical home for patients with all these different rare diseases, and it was created in response to the fact that we can diagnose and treat more than we ever could before,” he said.

“Now, we have a whole generation of patients living much longer with a better quality of life, but they also need a medical home which is why we are providing the Institute. What’s really exciting about this announcement is acknowledging that this whole thing is an integrated ecosystem. We have pharmaceutical companies developing rare disease products, we have patient advocacy groups pulling the patients together and, in the middle, is the rare disease medical community where we are trying to diagnose and treat these patients.”

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