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
DBE-T may be a valid therapeutic target for FSHD
FSHD researchers report in Cell that DBE-T may be a valid therapeutic target for FSHD More May 7th joint press release from San Raffaele Scientific Institute, Milan, Italy and the… Read More »
Past FSH Society fellows publish research paper “Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD”
Past FSH Society fellows publish research paper “Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD” in Epigenetics that proposes a prognostic marker that can… Read More »
Choice of transcriptional direction from each D4Z4 unit is an additional requirement for DUX4 production and having FSHD
FSHD research teams in Seattle, Rochester and Leiden add to the existing FSHD model loss of heterochromatin at D4Z4 and the presence of a specific haplotype on chromosome 4 are… Read More »
FSH Society grantees publish new paper “RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy”
FSH Society grantees publish new paper “RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy” in The American Society of Gene & Cell Therapy providing proof-of-principle… Read More »