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
Read the latest on wikipedia
Glossary of Scientific Terms
By Alex Kiselyov, CEO, Myocea, Inc. Myocea is a biotechnology startup with a focus on neuromuscular disorders. Our product pipeline is championed by the small molecule GBC0905 (Rebastinib) aimed at the treatment of FSHD Type 1 and Type 2. Myocea was spun out of San Diego-based Genea Biocells in 2019 after its parent company Genea… Read More »
This month’s FSHD University webinar (video above) provided an outstanding, nontechnical explanation of magnetic resonance technology (MRI) and how it is being applied in the Fulcrum Therapeutics clinical trial of an FSHD therapeutic drug. Rosemary Shull of AMRA Medical expounded on why MRI is the “gold standard” method for imaging soft tissues such as… Read More »
It has been a banner year for the biopharma industry, with record investment, groundbreaking COVID vaccine efforts and incredible scientific advances. It is a particularly hopeful time, both for the industry and for the people living with diseases that our companies are addressing. At the end of the day, though, it only matters if the… Read More »
Growing numbers of companies and academic laboratories are pressing forward with early-stage drug development efforts. This chart shows how far various candidate anti-DUX4 drugs have progressed along the path to FDA approval. DUX4 is considered a key gene causing FSHD. The process begins with finding a “target,” or biological disease mechanism, that can be modified… Read More »