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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Scientific Overview of FSHD
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(Cautious) optimism in FSHD drug development
Patients are critical in helping to transform optimism into reality by Ken Kahtava, Chief Business Officer, FSHD Society Breakthroughs in FSHD research have identified the primary mechanism that causes FSHD…. Read More »
Promising findings from Avidity’s myotonic dystrophy trial
A major breakthrough for the field of RNA therapeutics Avidity Biosciences announced today that its investigational treatment for myotonic dystrophy type 1 (DM1), called AOC 1001, can be delivered into… Read More »
Springboards to the future
Everything we do propels us faster toward treatments and a cure We often speak of “filling potholes” and “overcoming obstacles” toward treatments and cures, but what the FSHD Society has… Read More »
Using our leverage
A few years ago, we told our donors that a gift to the FSHD Society “is one of the most powerful investments you will ever make to advance medical research.”… Read More »