To crack the code of FSHD, patients are absolutely essential
All of the breakthroughs—the discovery of the genetic causes, understanding why some patients vary so greatly in the severity of their symptoms, teasing out the biochemical pathways that could point to future treatments—were made because patients stepped up to the plate.
Too often, we hear patients say they’ll volunteer when there’s a treatment. But we will never get to a treatment unless patients participate in fundamental research now. FSHD is uniquely human, so no laboratory mouse can ever fully model the disease. The genetic “package” that causes FSHD is found only in people. We owe an enormous debt to the patients who give DNA samples. Who submit to long interviews and exhausting physical tests. Allow a surgeon to cut out a small muscle sample. Who fight claustrophobia to lie in the narrow bore of an MRI machine.
Equally important are patients’ family members, both affected and unaffected, who provide the best experimental controls because of their shared genetic and environmental backgrounds. A parent or sibling who has very mild symptoms may hold the key to understanding the factors that protect against the full-blown development of FSHD symptoms in a more severely affected family member.
We are more hopeful today than ever before that a treatment is within sight. We cannot guarantee when that treatment will arrive, but here’s one thing we guarantee: If you volunteer for research, your participation will without question help move us a step closer to that day.
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Accelerating the path to developing FSHD therapies
Our webinar presenter is Molly White, Vice President, Medical Communications & Advocacy at Dyne Therapeutics. Molly brings a unique perspective on the impact of the FSHD community’s role in therapy development. She previously served as chief executive officer of Myotonic, an organization dedicated to advancing research and enhancing the quality of life of people living with myotonic dystrophy. For more information, visit www.fshdsociety.org -
FSHD Society webinar - COVID-19 survey report
In the spring of 2020, the FSHD Society and FSHD UK distributed a survey from the University of Rochester to assess how the neuromuscular patient community was responding to the social distancing policies imposed by the COVID-19 pandemic. We are so grateful to the hundreds of individuals who responded. The key investigators, Leann Lewis and Katy Eichinger, presented their findings in this webinar. We’re so pleased to be able to report back data so quickly to our community. There will be Q&A and discussion of the insights gained that could help inform how people are coping with the challenges of these times. For more information, visis www.fshdsociety.org. -
COVID-19 and FSH muscular dystrophy
This FSHD Society webinar features Ghinwa Dumyati, MD, Professor of Medicine and Director of Communicable Disease Surveillance and Prevention at the University of Rochester Medical Center. Her research focuses on tracking and preventing infections of public health importance. She has previously worked with local health department during the SARS outbreak and 2009 H1N1 Influenza. She is presently assisting nursing homes in managing the COVID-19 outbreaks in their facilities. She will be joined by her husband, Rabi Tawil, MD, and Jeffrey Statland, MD, both leading FSHD physicians and researchers. For more information, visit www.fshdsociety.org
Scientific Overview of FSHD
Read the latest on wikipedia
Glossary of Scientific Terms
The remarkable origins of FSHD research in America
by Allison Calder, Salt Lake City, Utah Did you know the first grant ever paid out by the United States National Institutes of Health (NIH) was awarded to study FSHD? Maybe you are as shocked as I was when I first heard this while sitting in a family conference at the University of Utah a… Read More »
We Heard Your Voice
by June Kinoshita, FSHD Society On June 29, 2020, the FSHD Society convened its landmark Voice of the Patient Forum. Patients and family members testified by livestream and email to educate the FDA on how FSHD has impacted their lives. More than 600 people responded to our surveys and provided statements which have been compiled… Read More »
Feeling the urgency of NOW. Time = Lives
Last year, the FSHD Society launched an aggressive initiative to accelerate therapeutic development in FSHD. Because of our donors’ commitment and investment, we hosted the first Industry Collaborative Workshop for Therapy Development in FSHD with pharmaceutical companies, researchers, and regulatory and governmental agencies to identify the major obstacles to clinical trial development and regulatory approval… Read More »
The community’s role in accelerating therapies
In our webinar on “Accelerating Therapy Development: The Patient Community Role,” Molly White, Vice President, Medical Communications & Advocacy at Dyne Therapeutics, discusses the many ways in which your efforts, as individuals and family members living with FSHD, have paved the way for biopharmaceutical companies to pursue drug development. They truly cannot do it without… Read More »