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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The past, present, and future of FSHD research, with George Padberg, MD PhD
From the FSHD Society's 2020 International Research Congress, held virtually on June 25-26.. Dr. Padberg, a giant in the field of FSH muscular dystrophy research, discusses clinical aspects of FSHD have been underinvestigated and suggests directions for future research. For more information, visit fshdsociety.org -
siRNA therapy for FSH muscular dystrophy
From the 2020 FSHD Connect Classroom conference. Dr. Anthony Saleh of miRecule describes the cause of FSH muscular dystrophy and research on siRNAs as a potential therapy. For more information, visit www.fshdsociety.org. -
Gene therapy for FSHD, by Scott Harper, PhD
From the 2020 FSHD Connect Classroom conference. Dr. Scott Harper of Nationwide Children's Hospital gives a progress report on the development of gene therapies for FSH muscular dystrophy. For more information, visit www.fshdsociety.org.
Scientific Overview of FSHD
Read the latest on wikipedia
Glossary of Scientific Terms
Dyne ramps up its FSHD program
Dyne Therapeutics, a Waltham, Massachusetts, biopharmaceutical company, announced yesterday that it is accelerating its FSHD therapy development program. Here is their press release: Dyne to evaluate therapies targeting genetic cause of FSHD under agreement with international research organization UMONS Leading FSHD researcher Jeffrey Statland, M.D., appointed to Scientific Advisory Board WALTHAM, Mass. – Dyne Therapeutics,… Read More »
Fulcrum update on ReDUX4 trial
Fulcrum Therapeutics Reports Recent Business Highlights and First Quarter 2020 Financial Results May 13, 2020 at 7:00 AM EDT CAMBRIDGE, Mass., May 13, 2020 (GLOBE NEWSWIRE) — Fulcrum Therapeutics, Inc. (Nasdaq: FULC), a clinical-stage biopharmaceutical company focused on improving the lives of patients with genetically defined rare diseases, today provided a business update and reported financial results… Read More »
Participate in COVID-19 Survey
The FSHD Society is partnering with researchers on an important study of the impact of COVID-19 on the muscular dystrophy community. Please read this letter from Dr. Rabi Tawil and click on the link below to take the survey. Deadline is May 22, 2020. Thank you! Dear Participant, We are reaching out to people in… Read More »
Press release from Fulcrum Therapeutics
Fulcrum Therapeutics Provides Business Update on Impact of COVID-19 CAMBRIDGE, Mass., April 2, 2020 – Fulcrum Therapeutics, Inc. (Nasdaq: FULC), a clinical-stage biopharmaceutical company focused on improving the lives of patients with genetically defined rare diseases, today provided a business update in the context of the developing situation with the COVID-19 (coronavirus) pandemic. “During the… Read More »