Leap(ing) Into Rare Disease Day

The worldwide observation of Rare Disease Day fell on Leap Day this year.

February 29 also saw the return of the annual NIH Rare Disease Day 2024 conference, which is sponsored by the National Center for Advancing Translational Sciences and the Clinical Center. This event seeks to raise awareness about rare diseases, the people they affect and NIH collaborations that address scientific challenges and advance research for new treatments.

This year, over 2,200 people participated in NIH Rare Disease Day live and virtual meetings, which included panel discussions on artificial intelligence (AI) and its role in rare disease research and advancements in gene therapy.

NIH Director Dr. Monica Bertagnolli was among the speakers sharing rare disease stories and the experience of clinical doctors. The event offered networking opportunities and more than 100 exhibits and scientific poster presentations at the NIH Natcher Conference Center. Exhibitors included medical and pharmaceutical companies, patient advocacy nonprofits and NIH programs.

In an address, Clinical Center CEO Dr. James Gilman welcomed conference attendees and touted the research hospital's long-standing involvement with rare diseases and medical milestones, including the development of chemotherapy to treat cancer and blood tests to detect HIV and hepatitis.

Gilman encouraged participants to visit the Clinical Center Office of Patient Recruitments booth at the event to share their personal stories in hopes that participants could be paired with clinical studies to advance research.

"This is the one day a year where patients with a rare disease have a voice, said participant Jennifer Noonan with Accessia Health. "We are here to lean more about what is coming, what our patients might need and how to fill in those gaps."

Learn more about NIH Rare Disease Day 2024.

- Yvonne Hylton