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
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Glossary of Scientific Terms
FSHD Advocate on the Road to Clinical Trials
“Never give up, for that is just the place and time that the tide will turn.”–Harriet Beecher Stowe As we enter a new decade – one that we believe will see effective therapies become available – the families that form the FSHD Society face new challenges. This year, we have an unprecedented opportunity to participate… Read More »
Genetic testing for FSHD—a new frontier
There are exciting new developments in FSHD genetic testing. A new genetic test for FSHD is now being offered by PerkinElmer Genomics, a global company known for scientific and medical testing services. Other companies and groups are likely to follow suit. This is the first major innovation in FSHD genetic testing in nearly three decades… Read More »
Losmapimod receives orphan drug designation
Fulcrum Therapeutics has announced that losmapimod has received orphan drug designation from the U.S. Food and Drug Administration. Losmapimod is currently in a Phase 2 clinical trial for facioscapulohumeral muscular dystrophy (FSHD). The drug qualified for this status because FSHD, with an estimated 20-40,000 affected individuals in the U.S., is considered a rare disease. (The… Read More »
Fulcrum’s approach to treating FSH muscular dystrophy [VIDEO]
In this video, Michelle Mellion, MD, medical director at Fulcrum Therapeutics, discusses the Cambridge biotech’s approach to treating facioscapulohumeral muscular dystrophy. She describes the company’s scientific research to develop “FSHD in a dish” models to screen and identify candidate drugs that can suppress the expression of DUX4, the gene thought to be the trigger for… Read More »