Facioscapulohumeral muscular dystrophy (FSHD) affects nearly 1 million children and adults worldwide. Many patients wish to donate muscles taken during surgery, or their bodies at death, for medical research. The FSH Society is establishing a registry to match donors to researchers who need the tissue. We need funds to cover the cost of recovering and shipping the tissue to labs. Help us to deliver these invaluable gifts into the hands of scientists who are working on a cure
FSHD affects 1 in 8,000 individuals. It is a uniquely human disease and will be cured only through the study of tissue donated by patients. We have experienced many failures to arrange for post-mortem tissue recovery. The deceased usually has not signed an informed consent, the family is in distress, and the pathologist has no idea what tissue to recover, how to label and preserve it or where to send it. Patients' desires to contribute to science are thwarted and researchers' needs remain unmet.
The FSH Society registry matches donors, who have consented in advance, to scientists with funded and approved research projects. Working with the National Disease Research Interchange, our registry provides consent forms in advance to donors and has developed a protocol that pathologists can follow to recover tissue & express ship them to labs anywhere in the world. NDRI has a proven track record working with many rare disease organizations.
Donated tissue will be used to understand how the genetic mechanism of FSHD leads to muscle degeneration. Muscle cells will be grown in the lab to provide an abundant source of cells to study, re-program into stem cells, transplant into laboratory mice, and screen for drugs that can stop the disease process. Lack of access to human tissue is dragging down the field. This project will greatly accelerate the pace of progress toward better diagnostics and treatments.