EveryLife Foundation Announces Scientific Workshop on 'Ultra-Rare' Diseases

WASHINGTON, May 16, 2024 /PRNewswire/ -- The EveryLife Foundation for Rare Diseases is excited to announce its Scientific Workshop slated for May 21, 2024, in Washington, D.C., with both virtual and in-person attendance options.

This year, the workshop emphasizes identifying and characterizing the challenges in developing therapies for conditions affecting exceedingly small populations, often termed 'ultra-rare' diseases. While significant strides have been made with legislative tools like the Orphan Drug Act, only a small fraction of rare diseases have FDA-approved treatments.

In response to the ongoing debate within the community regarding the necessity and potential framework of a formal definition for ultra-rare diseases, the EveryLife Foundation aims to ensure that any conclusions drawn are well-informed by evidence and community needs, while also considering the potential for unintended consequences.

The workshop aims to explore the unique hurdles in therapy development, regulatory processes, and funding, aiming to delineate the considerations and implications of establishing a statutory definition for ultra-rare diseases. The event will also evaluate the current state of therapy development to document existing disparities and pinpoint opportunities for targeted policy changes.

"We are proud to convene leading experts from industry, academia, policy, and patient organizations who are pioneers in ultra-rare disease research and advocacy," said Michael Pearlmutter, CEO at the EveryLife Foundation. "Our workshop will drive crucial discussions that inform and refine policy and regulatory frameworks, ensuring that any new initiatives enhance rather than segment the rare disease therapy development landscape."

Confirmed Speakers:

Federal Agencies

• Peter Marks, MD, PhD – Director, Center for Biologics Evaluation and Research (CBER), FDA
• Janet Maynard, MD, MHS – Director, Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicines, FDA
• Joni Rutter, PhD – Director, National Center for Advancing Translational Sciences (NCATS), NIH
• Janet Woodcock, MD – Former Principal Deputy Commissioner, FDA

Think Tank Innovators

• Kishore Hari – Senior Program Manager, Chan Zuckerberg Initiative
• Esther Krofah, MPP – Executive Vice President, Milken Institute Health
• Ethan Perlstein, PhD – CEO, Perlara PBC & Maggie's Pearl

Patient Advocacy Experts

• Lynn Albizo, JD – Chief Public Policy Officer, Immune Deficiency Foundation
• Matthew Ellinwood, DVM, PhD – Chief Scientific Officer, National MPS Society
• Justin Hopkin, MD – Chairman Emeritus, National Niemann-Pick Disease Foundation
• Annie Kennedy – Chief of Policy, Advocacy, and Patient Engagement, EveryLife Foundation for Rare Diseases
• Sharon King – President, Taylor's Tale
• Paul Melmeyer, MPP – Vice President, Muscular Dystrophy Association
• Emily Milligan, MPH – Executive Director, Barth Syndrome Foundation
• Jamie Sullivan, MPH – Senior Director, Advocacy, and Patient Engagement, EveryLife Foundation for Rare Diseases

Academic and Regulatory Experts

• A.J. Allen, MD, PhD – Chief Medical Officer, IACT
• Tim Franson, MD – Principal, Faegre Drinker Consulting
• Aaron Goldenberg, PhD, MPH – Professor and Vice Chair, Department of Bioethics, Director, Center for Community Health and Genomics, Case Western Reserve University School of Medicine
• Frank Sasinowski, MS, MPH, JD – Director, Hyman, Phelps, & McNamara P.C.; Vice Chair of the Board, EveryLife Foundation for Rare Diseases

Pharmaceutical Industry and Investment Experts

• Teresa Fecteau, PhD – Director, U.S. Medical for Rare Disease, Biogen
• Reenie McCarthy, JD – Chief Executive Officer, Stealth Biotherapeutics
• Adora Ndu, PharmD, JD – Chief Regulatory Officer, BridgeBio
• Sal Rais, MD, MBA – Biotech Analyst, T. Rowe Price
• Kevin Thorneloe, PhD – Sr. Medical Director, Pharming

The workshop will serve as a platform for in-depth discussions, allowing attendees to network with industry leaders and contribute to the shaping of the future of ultra-rare disease therapy development.

Registration and Media Inquiries: 

The workshop is accessible to all, with no-cost registration options for both virtual and in-person participation. Limited media registrations are available. For more details about the workshop and to register, please visit EveryLife Foundation's Scientific Workshop Schedule.

About EveryLife Foundation for Rare Diseases:

EveryLife Foundation for Rare Diseases is a nonprofit, nonpartisan organization dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy. The Foundation works to improve the lives of the millions of Americans suffering from rare diseases by advocating for policies that foster innovation and remove barriers to life-saving treatments. Founded in 2009 and headquartered in Washington, DC, the EveryLife Foundation for Rare Diseases has programs throughout the United States. To learn more, visit EveryLifeFoundation.org.

SOURCE EveryLife Foundation for Rare Diseases