
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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Glossary of Scientific Terms
Extraordinary Measures – Understanding the socioeconomic impact of FSHD
An aspect that is often overlooked during drug development is a cost-benefit analysis of a therapeutic treatment. Insurance companies often determine the level of coverage they are willing to provide… Read More »
Artificial intelligence reveals some surprises
Analysis of FSHD registry data overturns prior ideas about genetic and gender factors by Natalie Katz, MD, University of Rochester Facioscapulohumeral muscular dystrophy is a highly variable disease. While we… Read More »
Extraordinary Measures – Many shots on goal
by Jamshid Arjomand, Chief Science Officer With a dozen or more potential FSHD therapies in the drug development pipeline, why is the FSHD Society continuing to invest substantial funds− a… Read More »
Extraordinary measures – An FSHD Society for everyone
by June Kinoshita, FSHD Society Our mission at the FSHD Society is to find treatments and a cure for FSHD—and then make sure everyone in the world who needs it… Read More »