Rare diseases often go unnoticed in the daily life of those unaffected, but, for those living with them, they are a constant reality.

Jennifer Arnold, a pediatrician and neonatologist at Boston Children’s Hospital, lives with achondroplasia, which is a genetic bone disease that affects the protein in the body called the fibroblast growth factor receptor. This condition is usually diagnosed at birth, and occurs in about 1 in 15,000 to 40,000 newborns, or approximately 0.0025% to 0.0067%. She had undergone about 40 orthopedic surgeries growing up, and has had many orthopedic complications because of her skeletal dysplasia. 

“But I also knew that I didn’t want that to get in the way of leading the life that I wanted, that I felt that I deserved,” she expressed after explaining her situation.

The rare disease community, including Arnold, Pamela Gavin, the CEO of the National Organization for Rare Disorders, industry professionals, and advocates, gathered during the Boston Globe’s Rare Disease Summit on Feb. 25, 2025, at Big Night Live in Boston. The event was presented by Alexion, AstraZeneca Rare Disease.

A rare disease is a condition usually caused by genetic changes that affects only a small number of people in the United States; usually fewer than 200,000 individuals. Because of this low number, they can be difficult to diagnose, sometimes even taking years, and treatment options are limited. Only about 5% of rare diseases currently have FDA-approved treatments.

“I think we can all agree that there has never been a more critical time for patients, care givers, leaders, from industry to advocacy . . . to come together to help empower the rare disease community,” said Cheryl Schwartz, senior vice president at Takeda Pharmaceutical Company.

Lack of personal connection and low visibility lead to the public’s knowledge of rare diseases to be dimmed, but many working closely with them are set to change this scarcity of awareness. Throughout six talks during the conference, speakers came together with missions, journeys, and goals for the future of rare disease innovation. Awareness for these diseases and those affected by them was a topic frequently touched upon. Many gave a call to action to gain information, spread awareness, and donate to foundations to help leverage the sciences that will lead to discoveries and progress. 

During “From Bench to Bedside: Rare Cancer Innovations,” Jesse Boehm, associate director at Boehm Lab, and Suzanne George, chief of the Division of Sarcoma at Dana-Farber Cancer Institute, and other experts, discussed the awareness of specialty treatments for rare cancers. 

“Whether or not someone is touched by a rare disease today or not doesn’t disqualify them from helping to build structural solutions to support all the diseases they hear about,” stated Boehm.

George also remarked that “awareness is so critical in the rare disease context.” 

Innovation is also at the forefront of these specialists’ minds. Arnold is looking to the future of rare diseases, and hopes to see the resources needed for families and patients to be more well known and accessible. Because there are many different categories those with a specific rare disease can fall under, she holds comprehensive care to a high value, and is looking to make sure each patient is treated to their own unique case in the subset of their condition.

Other speakers at the event also expressed strong optimism about the future of innovation in rare diseases, and are very hopeful about the next steps. 

“I’m really very optimistic about [the future of rare disease innovation],” said Dr. Timothy Yu from the Division of Genetics and Genomics at Boston Children’s Hospital. “I think it was very difficult 20 years ago, when you had many rare diseases that we didn’t even know what were the relevant communities. Now the ability to find these groupings come from genetics, and give us at least one handle whereby parents and families can come together and empower themselves.”

While previous research has provided useful common approaches, and should not be discredited, efforts continue to develop tailored treatments for each individual and understand each patient’s condition. Those involved are committed to ensuring that this progress in development does not stagnate, as they have devoted their lives to this cause.

–March 10, 2025–