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.
Scientific Overview of FSHD
Read the latest on wikipedia
Glossary of Scientific Terms
FSH Society accolade for George Padberg
FSH SOCIETY PIONEER AWARD PRESENTED TO GEORGE W. PADBERG, MD, PHD, HEAD OF THE DEPARTMENT OF NEUROLOGY, ST RADBOUD UNIVERSITY MEDICAL CENTRE, NIJMEGEN, THE NETHERLANDS AT HIS VALEDICTORY LECTURE HELD… Read More »
The 2013 International Research Consortium & Research Planning Meetings
Dear Colleagues, The 2013 FSH Society FSHD International Research Consortium workshop will be held on Monday & Tuesday, October 21-22, 2013, at the Massachusetts Institute of Technology, in Cambridge, Massachusetts…. Read More »
The FSH Society Issues Research Grant
FSH Society awards a $48,909 research grant to Dr. Jeffrey Statland, University of Rochester, Rochester, New York, Fellow and Senior Instructor in the Department of Neurology, so that he can… Read More »
Marjorie Bronfman Fellowship Grant yields a new transgenic mouse model with Human DUX4 D4Z4 advancing clinical trials readiness efforts
Research project initiated in 2003 under a FSH Society Marjorie Bronfman Fellowship Grant yields a new transgenic mouse model with Human DUX4 D4Z4 advancing clinical trials readiness efforts and our… Read More »