Goodwin’s 2025 Rare Disease Symposium: Momentum Builds for Addressing Critical Diagnosis and Treatment Gaps

Goodwin’s 2025 Rare Disease Symposium, held on February 5 in Boston and virtually, gathered patient advocates and caregivers, providers, researchers, biotech and medtech leaders, investors, and policy experts to discuss the future of rare disease research and treatment.

A View From the Hill

US Rep. Gus Bilirakis (R-FL), co-chair of the Rare Disease Congressional Caucus, opened the event by stressing the need for continued investment in research. He highlighted that only 5% of rare diseases have therapies approved by the US Food and Drug Administration (FDA) but emphasized the current bipartisan support for rare disease initiatives, stating that “this is not a partisan issue.” Chris Jones, senior policy advisor for Rep. Bilirakis, highlighted three key legislative priorities: reauthorizing the Rare Pediatric Disease Priority Review Voucher program, protecting orphan drug incentives, and strengthening rare disease research incentives. He urged advocates to engage with the Rare Disease Congressional Caucus, stating, “Approach us early, approach us often, but approach all of us as a team.”

Attendees were optimistic about the potential for progress, citing momentum from new FDA initiatives, growing legislative support, and increased global innovation in research and development. These efforts, alongside increased patient advocacy and a presidential administration focused on speeding patient access, could lead to significant advances in rare disease treatments and cures in 2025.

Patients Are Driving Research 

Patient advocacy groups play a pivotal role in advancing rare disease research. Caregivers Jaime McHugh and David Downing shared their families’ stories of rare disease, including a difficult and uncertain diagnostic odyssey on the road to knowledge and treatment. McHugh and Downing explained how advocacy organizations for their own children’s rare diseases — the Coalition to Cure CHD2 and the CureGRIN Foundation — bring together families, inform care, and drive future research. 

Both spoke candidly about how rare disease caregivers, often out of necessity, must become more knowledgeable about their loved one’s disease, treatment, and holistic care than most healthcare providers. They underscored an acute need for continuously improving access to knowledge and resources within the medical community and highlighted the critical role patient organizations can provide to rare disease families through sharing information. 

The Chan Zuckerberg Initiative’s Rare As One Network is a prime example of how patient-led organizations can share ideas, learnings, and connections to help transform the rare disease landscape. Heidi Bjornson-Pennell, senior program manager of the Rare As One Network, explained that the initiative’s support of patient organizations has been pivotal in enabling the identification of shared biomarkers and relevant endpoints, which is vital for speeding drug development efforts in the rare disease space.

The Children’s Rare Disease Collaborative (CRDC) at Boston Children’s Hospital demonstrates how institutional research partnerships can accelerate progress. Dr. Piotr Sliz, vice president and chief research information officer at Boston Children’s Hospital and CRDC co-leader, noted that by expanding genomics capabilities beyond a few specialized labs to more than 50 physician-scientists, the CRDC has helped end diagnostic odysseys for more patients. The collaborative, co-led by Dr. Shira Rockowitz, data science director, pioneered a data-sharing framework for genomic information. It allows broad sharing of data with researchers while supporting clinical care and enables physicians to query genetic variants across all hospital data, a capability that wasn’t possible before the establishment of the CRDC.

FDA Flexibility Shows Promise

The new FDA Rare Disease Innovation Hub is designed to streamline communication and address challenges in developing treatments for small populations. The FDA has shown greater flexibility and openness in approving novel trial designs and endpoints for rare diseases, especially when strong patient data is available. Judy Stecker, executive vice president at Burson and former US Department of Health and Human Services deputy chief of staff for strategy and operations, noted that the FDA must balance regulatory rigor with the urgency of providing patients with access to lifesaving treatments.  

Funding Models Need to Evolve

Traditional funding and reimbursement models often fail to meet the unique challenges of rare disease development, particularly with small patient populations and long development timelines. There is a growing need for innovative models that integrate public-private partnerships and alternative payment structures. Paula Ragan, CEO and president of X4 Pharmaceuticals, which received and later sold a rare pediatric disease priority review voucher, highlighted that despite inherent challenges, rare diseases have seen an impressive rate of drug approvals. She emphasized that industry can build successful business models around rare disease product development and commercialization with the right investment strategies.

Policy Momentum Is Building

With new appointments in the Trump administration and heightened congressional interest, 2025 could be a pivotal year for advancing rare disease policy. Rep. Bilirakis emphasized the need for action: “These kids deserve a chance. They deserve an opportunity. And that’s what we’re giving them. The parents need hope.” He also underscored that rare diseases are not a “rare problem” and stressed the need for offering research incentives for the 95% of rare disease patients without an FDA-approved therapy. His call for bipartisan action on issues such as the rare pediatric disease priority review voucher program and orphan drug incentives continues to gain traction in Congress. 

Karin Hoelzer, senior director of patient advocacy at the Biotechnology Innovation Organization, underscored the urgency of protecting policies that enable drug development and stressed the importance of preserving crucial programs such as the orphan drug tax credit and priority review voucher program, noting, “The time is now to protect that vital ecosystem.”

Pamela Gavin, CEO of the National Organization for Rare Disorders, emphasized NORD’s initiatives to drive policy at the federal and state levels that benefits rare disease patients. Gavin highlighted NORD’s State Report Card, for example, as a way to become educated about where to focus state advocacy efforts. She also noted the importance of industry collaboration, touching on NORD’s Corporate Council and its working groups, which focus on policy issues, regulatory matters, and patient partnerships with industry across the treatment development landscape. Gavin encouraged the rare disease community to continue “putting our foot on the pedal of innovation.”   

Jack Kalavritinos, founder of JK Strategies and the Washington Health Innovation Council, and a top HHS official in the first Trump administration, similarly encouraged the community to collaborate across all sectors: patients, providers, payers, researchers, innovators, and investors. He advised groups to take a proactive approach in lobbying: “Bring a coalition of your groups to DC,” he said, emphasizing the importance of connecting across agencies to make a more powerful case for change.  

Drawing from his government experience, Kalavritinos noted that under HHS Secretary Alex Azar, who came from industry to lead the department, “we had more patient organizations coming in during the drug pricing legislation and regulatory development ... than we actually had pharma companies” sharing their views. Stecker, also a former HHS official, confirmed the importance of having patient organizations help lead any efforts to advance policy interests. 

Conclusion

The 2025 Rare Disease Symposium celebrated the progress of the prior year and increased connectivity within the community while illuminating the work that lies ahead. As momentum builds in policy, funding, and innovation, 2025 has the potential to redefine what’s possible for rare disease treatment and access, putting the power of progress directly in the hands of those who need it most. Goodwin is proud to bring together leaders and changemakers from every corner of the rare disease community, driving collaboration and sparking the breakthroughs that will change lives.

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Visit the Goodwin Rare Disease Initiative page to learn more about our work in the space and to access videos of these 2025 panel discussions.

 

This informational piece, which may be considered advertising under the ethical rules of certain jurisdictions, is provided on the understanding that it does not constitute the rendering of legal advice or other professional advice by Goodwin or its lawyers. Prior results do not guarantee similar outcomes.