In honor of Rare Disease Week, ASHG staff and over 500 rare disease advocates from across the U.S. took part in the EveryLife Foundation for Rare Disease’s 2024 Legislative Conference in Washington, DC, from February 25-28. During this multi-day event participants were educated on policy proposals impacting the rare disease community ahead of a visit to Capitol Hill on February 27. Speakers also discussed the importance of the need for federal funding to provide much-needed support for researchers making scientific breakthroughs improving the health and well-being of people everywhere.
With federal funding jeopardized earlier this year due to stalemates on FY24 Congressional spending bills, ASHG members have been communicating the importance of sustained and increased funding for human genetics and genomics research. Such investments not only drive innovation but also position the U.S. as a global leader in genomics, fostering collaborations with top researchers and institutions worldwide. This is important as well for patients struggling with rare diseases where improved diagnosis and understanding of the underlying disease mechanisms can lead to positive impacts for the 30 million people estimated to suffer from these devastating conditions.
In addition to opportunities to network with fellow advocates, conference participants were able to take part in issue briefings and educational sessions featuring policy experts and EveryLife Foundation leaders. They then had the unique opportunity to meet with more than 200 members of Congress and/or their staff to share first-hand perspectives on unique challenges and needs of those affected by rare diseases in the U.S. and ask for support on key legislation. ASHG staff had a front row seat to many of these discussions and learned a great deal about patient perspectives and the need for personal stories to communicate the value of research.
The week culminated with a Rare Disease Day conference at NIH on February 29 where attendees learned about the many programs that address rare diseases and about the challenges and successes in rare disease research.
According to EveryLife, rare diseases are notoriously difficult to diagnose, and it can take years for patients to discover the cause of their symptoms. This is partly because many conditions are so rare, it is challenging to obtain samples to rigorously study the diseases.
Patients attending the events remarked that they came to Washington, DC primarily to put a face to rare disease on the Hill. Keynote speaker Abbey Hauser, Advocacy Chair for Rare Disease Week at the EveryLife Foundation said that it was important to her to have the chance to share her own personal story and to connect it to public policy matters on Capitol Hill. “Participating in these activities keeps my fire fueled for advocacy for the rest of the year,” she said.
ASHG will continue throughout the year to communicate the need to fund NIH and will share the stories of people like Abbey Hauser here in the Messenger to further highlight the innovation of research allowing members to investigate the medical mysteries that continue to strain so many throughout our society.