Readout of White House Rare Disease Forum

President Biden has made it clear: we must accelerate the development of treatments and cures for rare diseases and boost support for families facing health challenges. Yesterday, the White House Office of Science and Technology Policy hosted the White House Rare Disease Forum to recognize Rare Disease Day and bring together the rare disease community of leaders and innovators to deliver progress to address the nearly 10,000 known rare diseases that impact up to 30 million Americans.

At this event, the Advanced Research Projects for Health (ARPA-H) announced a new $48 million project that invests in a novel, AI-driven platform to repurpose existing drugs to address rare and other diseases currently lacking treatment options. Director of the Advanced Research Projects Agency for Health (ARPA-H) Dr. Renee Wegrzyn spoke at the forum to announce Machine Learning/Artificial Intelligence-Aided Therapeutic Repurposing in Extended Uses (MATRIX), which supports the nonprofit organization Every Cure in Philadelphia, PA, to build a machine learning platform to rapidly pinpoint and validate existing medications to treat rare diseases.

The forum was grounded in the insights and expertise of people living with rare diseases and their families and caregivers, who shared their stories, expressing hope for the future of rare disease research, and underlining what is at stake in the push to accelerate progress against rare diseases. As Danielle Carnival, Deputy Director for Health Outcomes at the White House Office of Science and Technology Policy, directly noted, “Today, we celebrate the triumphs and progress, we learn from the experiences and expertise of those living with a rare disease, and we face head-on the many challenges that still remain: namely, to shorten the time to an accurate diagnosis, to reach more people with the tools we already have to diagnose and treat some rare diseases, and to drive new discovery and the development of effective therapies.”

The event included views from Biden-Harris Administration leadership, including the President’s chief advisor on science and technology Arati Prabhakar, who spoke about the need for progress against rare diseases so that all Americans can be part of the President’s vision for an America defined by possibilities. Director of the National Institutes for Health Dr. Monica Bertagnolli focused on NIH’s commitment to advancing understanding and approaches to rare diseases, and made it clear that NIH’s role is not complete until new treatments are having an impact on people’s lives. Panels of private- and public-sector leaders in diagnostics, research, and care discussed research progress and priorities, including improving clinical trials access for patients, accelerating cell and gene therapies, and using AI to speed progress. The discussion also focused on policy challenges and opportunities, assessing roadblocks and noting opportunities for accelerating innovation, increasing access to treatments, and supporting patient-partnered research and development. This forum made it clear that rare diseases, while small in number by individual cases, impact a large number of Americans—those diagnosed and their loved ones—and it is imperative we work together to spur progress and deliver hope for the millions dealing with the uncertainty that rare diseases present.

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