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.
The past, present, and future of FSHD research, with George Padberg, MD PhDFrom 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 dystrophyFrom 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, PhDFrom 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
New paper in Developmental Cell identifies a set of genes regulated by DUX4 and suggests possible mechanisms for causing muscle damage that might be targeted for developing therapies “DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for FSHD”
Best practice guidelines on genetic diagnostics of FSHD are now available and published in the journal Neuromuscular Disorders! FSH Society sponsors workshop held June 9, 2010, in Leiden, The Netherlands.
Our 2011 annual review of scientific research funded by the FSH Society was published in the Summer 2011 issue of the FSH Watch newsletter. The issue includes a list of the top papers from the year with comments about their significance, opportunities for research volunteers, and the latest Society news from 2011. The full issue is available here to… Read More »
Our 2010 annual review of scientific research funded by the FSH Society was published in the Summer/Fall 2010 issue of the FSH Watch newsletter. The issue includes a list of the top papers from the year with comments about their significance, opportunities for research volunteers, and the latest Society news from 2010. The full issue… Read More »