Rare Disease Day celebrated its 13th annual occurrence this year on February 29th, 2020. Rare Disease Day has been held on the last day of February since 2008, with events taking place throughout the month to raise awareness of both rare diseases and their profound impact on patients’ lives and the communities around them. This year, nearly 500 events were hosted by more than 100 countries on six continents through the tireless work of patient advocacy groups and healthcare organizations. This year, the NIGMS Repository was well represented at several regional Rare Disease Day events.
Starting on Monday February 24th, the NIGMS team attended Rare Disease NJ, a meeting that brought together state legislators and rare disease patients in Trenton to discuss how lawmakers can support affected families. Organized by the Rare Action Network, this event highlighted the efforts undertaken by rare disease patients to help enact policies for the well-being of the rare disease community, and called attention to resources already in place at the state level.
Later in the week, the National Institutes of Health hosted Rare Disease Day at NIH on February 28th, at which the NIGMS Repository was represented. In addition to displaying an exhibition booth, the Repository presented a poster that surveyed peer-reviewed research using NIGMS samples published over the past year. Featured speakers and panelists shared stories directly from the rare disease community, discussing their experiences finding support through the diagnosis and treatment of their conditions. Throughout the day, team members networked with both patients and clinicians alike, sparking potential future collaborations and learning about how the Repository can best serve the community.
Concluding the events in 2020, the Coriell Institute hosted the inaugural Rare Disease Day at Coriell on March 2nd, highlighting the role of patient advocates as drivers of science. NIGMS Repository PI, Deborah Requesens, PhD, spoke on the importance of biobanking as a resource to empower rare disease communities to advance their research. Speakers at the event shared lessons learned from their journeys to establish coalitions and promote research, inspiring attendees to get involved, collaborate, and work hard to promote a supportive environment for their communities.
Rare Disease Day at Coriell drew attention from lawmakers of the New Jersey State Senate and General Assembly issued a joint legislative resolution commemorating the Coriell Institute for holding the Rare Disease Day event to bring attention to the need for diagnosis, treatment, and the ultimate cure of rare diseases.
