NORD summit spotlights how patient experience drives progress
Event featured discussion of issues affecting people with rare diseases
The National Organization for Rare Disorders (NORD) announced that its annual Rare Diseases & Orphan Products Breakthrough Summit centered on the theme “From Voices to Breakthroughs.” The event, held October 19-21 in Washington, D.C., highlighted how lived experiences fuel significant scientific and policy advancements.
The event featured a range of speakers and discussions about issues affecting people with rare diseases, such as those with aromatic l-amino acid decarboxylase (AADC) deficiency. This included the Lightning Rounds Poster Presentations session, where authors presented their work in seven selected posters that represent priorities for the rare disease community.
“These seven posters demonstrate what’s possible when research, policy, and advocacy come together with a shared commitment to innovation and patient empowerment,” Pamela K. Gavin, NORD’s CEO, said in a press release. “We’re proud to showcase such forward-thinking work at the NORD Breakthrough Summit and look forward to seeing how these insights drive collaboration and change for the rare disease community.”
Lightning Rounds presentations highlight rare disease comunity priorities
The event brought together over 900 patient advocacy leaders, researchers, healthcare advocates, pharma and biotech company representatives, and regulatory and governmental leaders to discuss the future of rare disease treatments, research, and policy for more than 400 million people with rare diseases worldwide.
The meeting featured speakers, work sessions, discussion groups, poster presentations, and networking opportunities. The Lightning Rounds Presentations, a pillar of the annual NORD Breakthrough Summit, reflects priorities for the rare disease community. This year, selected posters focused on such topics as barriers to genetic testing, leveraging real-world data to accelerate therapeutic discovery, and creating collaborative care models.
Tariqa Ackbarali, PhD, from Medlive, and Madison Ahearn, from the Castleman Disease Collaborative Network, disclosed how digital education and discussion-based reviews with medical experts may assist in diagnosis, treatment, and care for rare diseases.
Sanjay Ahuja, PhD, from Regal Intel; Shana Dodge, PhD, from The Association for Frontotemporal Degeneration; and Alexandra Roeser, from Arrowhead Pharmaceuticals, shared how real-world data and insights from people with rare diseases may accelerate diagnosis, care, and development of new therapies.
Medicaid coverage gaps in accessing genetic testing and consequent health disparities in rare diseases were addressed by Shannon Belmont from Genedx, while Genevieve Lyons, from Alexion, AstraZeneca Rare Disease, presented results on the health benefits of orphan drugs.
Other discussion topics included clinical trial design in rare diseases, challenges in pediatric research and development, investment in rare disease therapies, federal and state policies, and collaborative efforts. People with rare diseases also shared their stories, challenges, and hopes for the future.
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