Press Release: 2/18/2026
Rare Disease Diagnosis and Development Must Move Together
FEB 17, 2026
2025 Rare Disease Day Forum (Photo: John Wilcox)
The rare disease community has made remarkable progress building pathways to get therapies approved faster. Gene therapies are reaching patients who had no options a decade ago. Regulatory frameworks continue to evolve. The science is moving.
But even the most promising therapy can only help patients who are found in time to receive it.
A child with a primary immunodeficiency whose symptoms look like recurring infections. A family spending years moving from specialist to specialist without answers. These diagnostic journeys remain one of the rare disease community’s most persistent challenges, and closing that gap is essential to realizing the full promise of the therapies we’re building.
Advancing rare disease treatment isn’t just about faster approvals or better molecules. It’s about ensuring the patients who need these therapies are identified, diagnosed, and connected to care before the window closes. Development and diagnosis have to move together.
That’s the conversation we’re convening at MassBio’s Rare Disease Day Forum on February 25.
The view from both sides
Dr. Peter Marks
Few people have shaped rare disease regulatory policy more than Dr. Peter Marks. As former director of FDA’s Center for Biologics Evaluation and Research, he championed accelerated pathways for gene therapies, rare disease treatments, and other innovations for patients with limited options. Now, as Senior Vice President at Eli Lilly, he’s navigating that system from the industry side, at a moment when the regulatory landscape continues to evolve.
In his keynote, Dr. Marks will reflect on lessons from his time in public service and share what looks different now that he’s working to advance therapies from within the industry. It’s a perspective that the rare disease community rarely gets to hear this candidly and directly.
The diagnostic journey
Following the keynote, a panel of clinical, patient-centered, and industry leaders will examine what happens before a therapy ever enters the picture: the diagnostic odyssey that too many rare disease patients and families endure.
Christie Higuera of Mass General Hospital, who is a rare disease patient herself and the mother of two children with rare diseases, will share front-line insights from supporting families through prolonged and often frustrating journeys to diagnosis. Dr. Christine Duncan of Dana-Farber/Boston Children’s will discuss the urgency of rapid diagnosis in infants, where delays can mean the difference between intervention and irreversible harm. And Dr. Uthra Sundaram of Takeda will offer an industry perspective on how diagnostic gaps affect access to plasma-derived therapies for vulnerable patients.
Dr. Christine Duncan (right) appearing on Boston Children’s Hospital’s Parentcast podcast with Dr. Jennifer Arnold.
Together, they’ll explore persistent challenges in clinician awareness, care coordination, and the shared responsibility across the ecosystem to find patients faster.
Also on the agenda
The Forum continues with two focused presentations from industry leaders working at the frontier of rare disease innovation.
A team from Servier will explore what it means to design clinical trials with patients at the center, a critical consideration when working with small, geographically dispersed populations where every participant matters. And leaders from Novartis Biomedical Research will share how emerging platforms like cell and gene therapy and xRNA are shaping the company’s approach to rare disease R&D, alongside the decision-making realities of investing in conditions with very small patient populations.
Throughout the day, we’ll also feature Rare Rebels, a storytelling initiative by filmmaker and patient advocate Melody Joy that uses documentary film and photojournalism to depict the true lived experience of people impacted by rare disease. Because behind every pathway, every therapy, and every breakthrough is a patient and family whose story deserves to be seen.
Why this matters here
Massachusetts has the research institutions, the industry presence, and the patient advocacy infrastructure to lead on both sides of this challenge. The speakers at this Forum represent that strength and the patient-driven commitment that defines our ecosystem.
Better therapies aren’t enough. We need better pathways to patients. Join us on February 25.