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NORD Breakthrough Summit: A Beacon for Rare Disease Innovation

The NORD Breakthrough Summit, hosted by the National Organization for Rare Disorders (NORD®), is set to be a groundbreaking event for those impacted by rare diseases. Scheduled for October 19-21 in Washington, D.C., this year’s summit focuses on advancing care, policy, and research, placing a spotlight on the challenges and opportunities that define the rare disease landscape.

This year’s summit emphasizes the theme “From Voices to Breakthroughs,” highlighting how the lived experiences of patients can catalyze scientific and policy advancements. With over 30 million Americans living with rare diseases, the summit targets the pressing need for innovation and collaboration within this field.

The Lightning Rounds Poster Presentations, a highlight of the summit, will showcase the work of selected researchers whose presentations embody the cutting-edge developments in rare disease research and advocacy. These presentations are set to occur on October 20 and will provide attendees with rapid insights into various urgent issues affecting the rare disease community.

Key Presentations to Look Forward To

1. Partnering for Education at a Turning Point in the Desmoid Tumor Landscape
Presented by Tariqa Ackbarali, PhD, CHCP, Medlive
This case study details how collaboration between Medlive, NORD, and the Desmoid Tumor Research Foundation facilitated free accredited education for clinical teams, significantly enhancing their capability in diagnosing and treating desmoid tumors.

2. The Castleman Disease Expert Panel
Presented by Madison Ahearn, BS, MHA, Castleman Disease Collaborative Network
This session will delve into a collaborative model aimed at enhancing clinical outcomes for patients with Castleman disease through comprehensive case discussions, showcasing the potential for scalability in addressing other rare diseases.

3. Accelerating Rare Disease Discovery
Presented by Sanjay Ahuja, PhD, Regal Intel
Focusing on leveraging real-world data gathered from electronic health records and patient registries, this study underscores the critical role of data in expediting the discovery of orphan products.

4. Medicaid Coverage Gaps in Genetic Testing
Presented by Shannon Belmont, MPH, JM, GeneDx
This insightful study outlines the disparities in access to genetic testing among Medicaid recipients compared to those with commercial insurance, stressing the impact these gaps have on timely diagnosis and treatment for underserved populations.

5. Streamlining Patient Engagement in Rare Diseases
Presented by Shana Dodge, PhD, The Association for Frontotemporal Degeneration
A pilot initiative that seeks to enhance engagement by consolidating insights from affected individuals, ensuring clinical research reflects their real-world needs.

6. Quantifying Health Benefits of Orphan Drugs
Presented by Genevieve Lyons, MSc, Alexion, AstraZeneca Rare Disease
The findings from this presentation emphasize the superior health benefits of orphan drugs compared to their non-orphan counterparts, paving the way for informed policy decisions that foster innovation.

7. Spotlight on Familial Chylomicronemia Syndrome (FCS)
Presented by Alexandra Roeser, Arrowhead Pharmaceuticals
This presentation aims to gather insights from the experiences of those affected by FCS, emphasizing the need for heightened awareness and supportive strategies in diagnosis and advocacy.

An Event of Importance

The NORD Breakthrough Summit not only serves as a platform for presenting research but also fosters discussions that can lead to significant policy changes and innovative care models. With participation from various stakeholders, including researchers, patient advocates, and government representatives, the event is an opportunity for transformative collaboration.

As the summit unfolds at the Grand Hyatt in Washington, participants are eager to engage in discussions that could reshape the future of rare disease treatments and policies. For more information, visit NORD Summit.

The National Organization for Rare Disorders, established in 1983, continues its mission as a leading non-profit advocating for the health and lives of those affected by rare diseases. By uniting over 350 disease-specific patient organizations, NORD is pivotal in driving advancements in research, care, and policy tailored to rare disease communities.