Three Takeaways from the Rare Disease Summit

Ahead of Rare Disease Day 2025, industry leaders and advocates share observations and breakthroughs.

On February 25, 2025 I joined the rare disease community, including industry leaders and advocates, to attend The Boston Globe’s Rare Disease Summit. This events coincided with the annual Rare Disease Day happening this year on February 28. The day aims to raise awareness of rare diseases and the people who live with them. The Summit featured a program that discussed how companies are driving medical breakthroughs to tackle rare diseases and help patients who are afflicted by them – as well as their caregivers.

Bridging Gaps in the Healthcare System

The event began with a fireside chat with Pam Gavin, CEO of the National Organization for Rare Disorders (NORD), is a strong advocate for individuals with rare diseases and their caregivers. NORD, founded over 40 years ago, emerged from grassroots efforts by patients, families, and researchers advocating for the Orphan Drug Act, which spurred the development of treatments for rare diseases. Today, NORD collaborates with nearly 400 patient advocacy groups, focusing on access to care, research acceleration, community-building, and therapy development.

Gavin’s involvement in the field began when her nephew was diagnosed with metachromatic leukodystrophy – a rare, inherited genetic disorder that affects the central and peripheral nervous systems, leading her to volunteer with NORD before eventually joining as an employee. She highlights the progress in rare disease treatment, noting that FDA-approved orphan therapies have increased from fewer than 40 at the time of the Orphan Drug Act to nearly 1,000 today. Advances in AI, gene therapy, and drug repurposing offer promising breakthroughs.

Key challenges include delays in diagnosis, gaps in medical expertise, funding freezes affecting NIH research, and Medicaid cuts that could impact families. NORD is working to bridge gaps in the healthcare system through initiatives like Centers of Excellence and clinician education programs.

For newly diagnosed patients, Gavin advises building a support system, connecting with advocacy groups, partnering with knowledgeable medical teams, and prioritizing self-care. She also stresses the need to improve access to clinical trials for those with multiple rare diseases by increasing awareness, reducing barriers, and enhancing communication networks.

Looking ahead, Gavin is particularly hopeful about advancements in gene therapy, AI-driven drug repurposing, and systemic improvements that can accelerate research and access to treatment.

The Importance of Newborn Screening

Another panel focused on on Duchenne Muscular Dystrophy (DMD), the challenges of its diagnosis, and the importance of newborn screening. A mother of two sons diagnosed with DMD shares her family’s difficult diagnostic journey, emphasizing the need for early detection. Medical experts, including specialists in infectious diseases, rare disease research, and genetics, highlight advancements in diagnostic testing, the evolution of genetic screening, and the role of newborn screening in improving patient outcomes. 

Dr. Dylan Tierney, Dr. Sheng Cheng, and Dr. Mira Irons, discussed advancements and challenges in diagnosing rare diseases. Dr. Tierney, an infectious disease expert and chair of the Massachusetts Rare Disease Advisory Council, highlights the persistent issue of the “diagnostic odyssey” faced by patients. Dr. Cheng, from AstraZeneca’s rare disease unit, emphasizes the development of diagnostic methodologies and therapies for rare diseases. Dr. Irons, a geneticist with 40 years of experience, outlines how diagnostic tools have evolved, from chromosome testing to exome analysis, improving early identification and treatment options.

The discussion underscores the progress in newborn screening, which has significantly expanded, identifying thousands of cases annually and facilitating early intervention. In Massachusetts, over 60 newborn screening tests are conducted, with pilot studies assessing new diseases before inclusion in the screening panel. While diagnostic advancements have improved patient outcomes, the panel agrees on the need for continued investment in screening and diagnostics to enhance early detection and treatment of rare diseases.

The Possibilities of Gene Therapy

Another promising topic featured Dr. Christine Duncan, hematologist and oncologist specializing in stem cell transplants at Boston Children’s Hospital, and Dr. Priya S. Chockalingam, VP at Beam Therapeutics – who both discussed pioneering breakthroughs in gene therapy, focusing on rare diseases.

Dr. Duncan played a key role in enrolling and later treating the first patient in a gene therapy clinical trial for adrenal leukodystrophy (ALD)- a rare, inherited genetic disorder that primarily affects the nervous system and adrenal glands gene therapy. Dr. Chockalingam’s current research focuses on gene and cell therapy, particularly base editing for sickle cell disease and liver-targeted therapies.

The discussion addressed challenges posed by proposed cuts to NIH funding and essential programs like Medicaid, Head Start, and early intervention services, which are crucial especially for children.

Looking ahead, the field is shifting from ex vivo to in vivo gene editing, which could significantly reduce costs and make treatments more accessible, particularly in low-resource settings. Innovations in mobile healthcare delivery, such as using vans for stem cell collection, could further expand access to life-saving therapies.

About Rare Disease Day

Rare Disease Day is a globally coordinated movement dedicated to rare diseases, striving for equity in social opportunities, healthcare, and access to diagnosis and therapies for people living with a rare disease.

Since its creation in 2008, Rare Disease Day has played a crucial role in building an international rare disease community—multi-disease, global, and diverse, yet united in purpose.

Rare Disease Day is observed every year on 28 February (or 29 February in leap years—the rarest day of the year). It was established and is coordinated by EURORDIS in partnership with over 70 national alliance patient organizations. The day serves as a powerful focal point, driving advocacy efforts at local, national, and international levels.

About SimpliHere

The mission of SimpliHere is to ensure efficient care and peace of mind for caregivers and their patients with neurological conditions that impact communication and mobility. Joanna Rosenberg founded SimpliHere to address communication gaps between caregivers and patients. Her personal experience when her mother lived with ALS exposed the challenges of communicating and understanding basic needs, as well as managing daily tasks for individuals impacted by these conditions.