Patients, parents and advocates join forces at NIH Rare Disease Day
With more than 700 in-person attendees and over 1,000 livestream viewers, NIH held its 10th annual Rare Disease Day event in the Natcher Building on Feb. 28.
Similar gatherings were held world-wide, all to raise awareness for the nearly 7,000 rare diseases. According to the National Center for Advancing Translation Sciences (NCATS), in the United States a rare disease is defined as a condition that affects fewer than 200,000 people. In spite of the name, rare diseases are hardly rare. The total number of Americans living with a rare disease is estimated at between 25-30 million, and about half of them are children.
Organized by NCATS, Rare Disease Day brings together diverse government and academic research interests, advocacy organizations, along with patients and families - all to share highlights in rare disease research, recognize those who are making exceptional contributions and propose an agenda to keep research moving forward. View online photos from the day.
In his welcome remarks by video, NIH Director Dr. Francis Collins shared a hopeful message, saying that over the past 10 years, the landscape has been changing. "Maybe not as fast as many would like, but rare disease has emerged as some of the coolest science, because we are finding cures at a rapid pace."
He described the approach as "scalable"– finding solutions that can be extended to multiple conditions. For example, using CRISPR CAS 9, to edit "misspellings" in genes and sequencing the genome. Researchers are also working with the Food and Drug Administration to move the drug approval process more quickly.
Collins added, "I give a lot of credit to families who have worked with researchers in identifying conditions and taking risks."
Panelists and speakers exchanged the latest rare diseases information with stakeholders to advance research and therapeutic efforts. They covered such topics as patient data collection, NIH-supported rare diseases research and the development of diagnostics and treatments. The event also put a face on rare diseases by sharing stories of patients, their families and their communities.
Many patient advocacy groups, allied nonprofits and NIH Clinical Center Departments participated with exhibits and posters. These organizations have worked hard to raise public awareness and driven scientific research. There is a proud tradition of energized rare disease patients driving science. From lobbying lawmakers to inspiring scientists, this strong community is working to make their voices heard.
"Rare Disease Day is a chance to make connections that span across such a wide variety of types of conditions to find commonality and solidarity," said Rebekah Horsting, Community and Content Manager of Patient Worthy, an organization that disseminates information and connects patients. "It’s a wonderful time to network, in a way that people from all different types of communities can collaborate and benefit one another."
Noah Victoria, a 22 year-old with two rare diseases, shared her odyssey with attendees. From the age of two, she has been part of a study at the Clinical Center. As a result of the treatment she has received, she was able to avoid more serious symptoms. She shared her coping strategies, which included the support of family and friends and her passion for reading and writing. Her goal is to become a published writer.
Victoria says, "I hope that by putting our stories and our voices together, we can raise and inspire more people to become passionate about rare disease research and change the world for people with rare diseases."
Recent advancements in science and technology, along with the commitment of researchers, patients and their families, provide inspiration and hope for scalable approaches, by identifying commonalities and applying them to this community.
- Debbie Accame