Harvard Researchers Visit DDC Clinic to Study Rare Genetic Diseases in Amish Community

May 6, 2025

In a significant step forward for rare disease research, specialists from Boston Children’s Hospital and Harvard Medical School recently visited DDC Clinic in rural Middlefield to collaborate with our team on studying and treating rare genetic disorders prevalent in the Amish community.

Dr. Darius Ebrahimi-Fakhari, MD, PhD, a pediatric neurologist specializing in movement disorders and hereditary spastic paraplegia, led the Harvard team. They spent the day meeting with patients affected by Troyer and Mast Syndromes—two forms of hereditary spastic paraplegia (Types 20 and 21) that are particularly common in the Amish population.

“Research on rare diseases is only possible through collaboration,” explains Dr. Ebrahimi-Fakhari. “No single center sees enough cases, no single team learns enough in a short period of time to efficiently conduct research, so we rely on collaboration. We have to go wherever these conditions are most common, and in this case, it’s here.”

These disorders cause progressive movement difficulties that often result in wheelchair dependency later in life. During their visit, the Harvard team discussed current treatment options with patients and families, focusing on available therapies to manage symptoms.

DDC Clinic’s Medical Director, Dr. Heng Wang, MD, PhD, who has been with the clinic since 2002, emphasized the mutual benefits of this collaboration.

“Bringing world-class expertise to DDC Clinic helps everyone,” Dr. Wang noted. “For our Harvard guests, they’re seeing and learning from patients with Troyer and Mast Syndromes for the first time—patients they would never encounter in their city. This is mutually beneficial, and the real winners are the children and families we serve.”

One of the significant challenges with these rare genetic diseases is that symptoms often don’t appear until adolescence or even adulthood, making early intervention difficult.

Current Treatments vs. Future Possibilities

“What we have at the moment are therapies that can reduce symptoms,” Dr. Ebrahimi-Fakhari explained. “These fall into different categories: medications, interventions such as Botox injections, and surgical procedures. The goal of all these interventions is to reduce symptoms.”

However, the Harvard team, like DDC Clinic researchers, is trying to develop treatments that not only address symptoms but stop disease progression and allow individuals to live better lives.

Learning from Patients to Develop Better Treatments

The visiting researchers valued the opportunity to learn directly from affected families. “What we’re learning today from the families is about how symptoms change over time and how they present differently even within the same family,” noted Dr. Ebrahimi-Fakhari. “That information is crucial because when we eventually have new therapies available, we need to know if they’re working. The only way to know that is to understand the symptoms as thoroughly as possible.”

The team also emphasized the importance of early diagnosis: “It’s absolutely crucial that we continue to advance diagnostics to the point where we can identify patients even before they have symptoms,” says Dr. Ebrahimi-Fakhari,. “This provides an opportunity to intervene with targeted therapies before symptoms occur, which is the ultimate goal of all this research.”

Dr. Wang and his team will review whether the available symptom therapies discussed might benefit DDC Clinic patients. Additionally, discussions are currently taking place for the Boston Children’s team to participate virtually in future clinical visits with patients at DDC Clinic, further strengthening this valuable collaboration.