A Rare Day Brings Fierce Focus to Rare Diseases

Rare Disease Day Highlights Tenacity of Love, Science

BY JENNIFER HARKER, THE NIH CATALYST

Leap year brings us an extra day every four years for the celestial and the earthly to sync. Rare days such as these also bring focus to rare diseases, which at NIH offers patients, family members, and the intramural and extramural scientific communities a day to showcase outcomes that reach far beyond synchronicity.

For example, few things are more moving than watching the progression of a child go from deep suffering to laughing and sledding in the Michigan snow. Not many families facing rare diseases have such heartwarming outcomes, but NIH’s commitment to battling the long diagnostic and treatment odyssey is making great strides toward ensuring more kids are laughing and playing in the snow by the time the next leap year rolls around.

Hundreds gathered on Feb. 29 at the Natcher Conference Center on the NIH Bethesda campus to speak of medical advances, network, and show their support for the rare disease community.

Dominique Pichard, director of the NCATS Division of Rare Diseases Research Innovation, shared a story about her daughter’s lengthy journey to diagnosis of Rett syndrome. As a mother and physician, she vowed to improve this process for others. “I don’t want a single person affected by rare disease to have to have that long of a diagnostic and treatment odyssey,” she told the audience.

According to NCATS Director Joni Rutter, it takes an average of six years for accurate diagnosis of a rare disease. She shared the many ways in which NIH is advancing the research to speed such processes.

“We have uncovered common genetic threads that can lead to universal therapies, from gene editing and gene therapy approaches to antisense oligonucleotides,” Rutter said. “We can also be thinking about how we can design new clinical trials or basket trials that test one therapy on many different rare diseases. So, in this way, we are not just chasing treatments, we are leapfrogging toward cures.”

NIH CC CEO James Gilman also restated the CC’s commitment to rare diseases. “The clinical center does more rare disease research than any place else on the planet,” he said. “Still, of the 7,000 identified rare and neglected diseases for which we know the molecular cause, only about 500 have approved treatments. NIH is collaborating with multiple partners to speed up the development of effective treatments and the clinical center is proud to play an important role in those efforts.”

The Bespoke Gene Therapy Consortium, which is co-led by NCATS, involves a multi-IC collaboration and partnership with the Foundation for the NIH, the U.S. Food and Drug Administration (FDA), and multiple private organizations that work together to speed development of novel cell and gene therapies.

The FDA’s Office of Therapeutic Products, directed by Nicole Verdun, was created one year ago to address the significant increase in cell and gene therapy development. “The science is changing on a day-to-day basis,” Verdun said. “We hope to exponentially increase the number of gene therapies approved. We have been adding additional tools like concurrent submission and product review with other regulatory authorities, communication pilots, and increased use of the accelerated approval pathway. We are trying to lean in and figure out ways that we can partner with the rare disease community, because the goal is to get therapies to patients sooner.”

Rare Disease Day at NIH  is an annual daylong hybrid event jointly sponsored by NCATS and the CC. The event seeks to raise awareness about rare diseases by bringing together a broad audience that includes patients, patient advocates, caregivers, health care providers, researchers, trainees, students, industry representatives, and staff from government agencies.

This year’s event featured intramural and extramural scientific efforts, cross-agency partnerships, panel discussions with experts, rare diseases stories by patients living with a rare disease or their family members, in-person exhibits and scientific posters, and an art exhibition.