Rare Disease Day at NIH 2024: Showcasing Voices and New Opportunities

On Feb. 29, 2024 — the rarest day of the year — patients, clinicians, researchers, drug developers and advocates traveled to the NIH main campus or tuned in to NIH VideoCast for Rare Disease Day (RDD) at NIH. More than 2,000 people attended RDD at NIH. Co-sponsored by NCATS and the NIH Clinical Center, the annual event raises awareness about rare diseases and the people they affect. It also highlights NIH partnerships that advance research and new treatments. This year’s event included scientific sessions, patient stories, scientific posters and exhibits, and art and film exhibits.

NIH is working hard to address the significant and often unmet needs of those affected by rare diseases. In her remarks, NIH Director Monica M. Bertagnolli, M.D., emphasized that rare diseases span across NIH’s research portfolio.

“We at NIH believe that caring for people with rare diseases is at the heart of everything that we do,” she said.

RDD at NIH speakers addressed a wide range of topics, including the rare disease diagnostic odyssey, drug repurposing and development, gene therapy, artificial intelligence (AI), and public-private partnerships. Many of their stories highlighted NIH’s integral role in addressing rare diseases from all angles — research, therapeutic development and information sharing.

“Rare Disease Day is a day to celebrate our successes, to honor those we hold dear and honor those we’ve lost,” said NCATS Director Joni L. Rutter, Ph.D. “And today, we pause, granting ourselves the space for creativity and contemplation, so that tomorrow, we can speed up with a renewed sense of purpose.” Rutter recently published a guest NIH blog post that highlights the need to communicate about rare diseases research.

Rare Diseases Research and Resources

The personal and powerful stories from RDD at NIH underscored the breadth and impact of NIH and NCATS rare diseases research and other activities. They also showcased many great research and educational resources, including those below, that the community can access any time.

• Genetic and Rare Diseases (GARD) Information Center
• Platform Vector Gene Therapy (PaVe-GT) Pilot Project
• Bespoke Gene Therapy Consortium
• Rare Diseases Registry Program (RaDaR)
• Somatic Cell Genome Editing Program
• NCATS Toolkit for Patient-Focused Therapy Development
• RARe-SOURCE

View the full article to read more about:

• The Diagnostic Odyssey: Through the Lens of Patients and Caregivers: obtaining a diagnosis and treatment for Rett syndrome
• Artificial Intelligence for Rare Diseases: Exploring New Possibilities: using AI to assist with data-driven discovery in various areas of biomedical research
• Public-Private Partnerships: Leveraging Unique Funding Models: a key approach that NCATS uses to speed the development of treatments for rare diseases