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.
Accelerating the path to developing FSHD therapiesOur 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 reportIn 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 dystrophyThis 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
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Glossary of Scientific Terms
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 »
by Jamshid Arjomand, PhD, Chief Science Officer, FSHD Society Our original plan for 2020 was to host the International Research Congress (IRC) in Washington, DC, in proximity to the FDA and the National Institutes of Health. The US capital (in an election year, no less!) would have provided an additional level of excitement to researchers… Read More »
In his keynote lecture from this year’s International Research Congress on FSHD, held virtually on June 25-26, George Padberg, MD, regarded as the father of modern FSHD research, shared observations from his four decades of seeing patients and directing ground-breaking research. Now retired from UMC St. Radboud in the Netherlands, Dr. Padberg was invited to… Read More »
Nestled into a basement in an outpatient building at UCLA Health’s Westwood hospitals is UCLA Neurology, home to ground-breaking FSHD Research. UCLA Health already ranks as the #1 hospital in California, and 4th nationally according to the U.S. News & World Report’s 2020 rankings, but it is also part of an elite network of… Read More »