New England Chapter

Thank you for visiting the New England Chapter of the FSHD Society which officially launched in June 2018. We are here to build a local community of patients, family and friends, and help them connect and advocate for themselves and each other. Our hope for the future is to find a cure – Until then, we hope to bring a greater awareness to the community, and to help improve the quality of life of all those affected.

To reach us directly, please email:

Don’t forget to follow us on FACEBOOK!

CALL TO ACTION: The University of Rochester needs additional patient participants for their research! Click here for a full explanation from Leann Lewis, Health Project Coordinator at the Neurology-Neuromuscular Disease Center
“In regards to the studies we have going on, we really need more FSHD subjects to participate, especially people who have not participated before and/or are newly diagnosed. This is not a requirement to participate, but we are trying to reach new subjects. As you know, FSHD is a rare disease, so we tend to reach the same group of people every time we recruit. And these people have been wonderful in participating multiple times over many years. Their participation is still very valuable, but we’d love to reach out to new participants as well so they can help join the effort.

At the University of Rochester Medical Center, we have multiple FSHD studies going on all the time. We work with many other sites around the country and the world, so if potential subjects contact us, we can always refer them to a site that is closer or more convenient.

We have studies that are one-day only, or require multiple visits. Some of these studies involve invasive procedures like muscle biopsy, some involve study drugs, and others do not involve any invasive procedures. When potential subjects contact me, I can talk to them about the different studies we have going on and help them determine which study that person is best suited for based on eligibility, time commitment, preference, etc. 

Another terrific resource is the FSHD Registry we have at the URMC. People can go to and sign up to join the Registry. Subjects will complete annual surveys to update their information regarding their condition and contact information so that their eligibility for studies can be prescreened. Then the Registry will send the subject information on the studies they are eligible for. The subject can then decide if they would like to contact the researchers of those studies to participate. Subject information is never released to other researchers.

Subjects can contact me at 585-275-7680.”

Leann Lewis, MS
Health Project Coordinator
Neurology-Neuromuscular Disease Center
University of Rochester
601 Elmwood Avenue
Rochester, NY 14642
Phone: 585-275-7680


Video and Presentation slides now available from the November Wellstone Meeting!

Those of you who attended the November 4 meeting at the Wellstone Center are very aware of how great the content was, so I am thrilled to share the following link with you. If you did not attend or need a refresher on the exciting possible solutions for FSHD, please see the meeting content here:


Click here for the latest news & updates from the FSHD Society

FSHD Society News:

  • CEO webinar – Mark Stone explains our strategy to accelerate therapy development and why the next three years are so critical. Worth sharing and discussing at your next chapter meeting!
  • The FSH Society had a convening an Industry Collaborative Workshop on March 12, 2019, bringing together companies that have FSHD drug development programs with academic thought leaders and FDA representatives. This is a key part of our FSHD Therapeutics Accelerator project. If you would like to learn more, please contact June Kinoshita.

Research News:

  • Fulcrum Therapeutics is actively recruiting patients to participate in important studies in preparation for their clinical trial. The studies are being conducted in Rochester, NY, Baltimore, MD, Kansas City, Seattle, WA, and Irvine, CA. For more information, please contact June Kinoshita.
  • DUX4 structure unveiled. An important advance made by Dr. Michael Kyba (and FSH Society grantee), that can help with the design of new drugs to block DUX4 activity.

Educating our Members: