FSHD Research - Field's Center

Sensing a Breakthrough - Rochester Medicine - Summer 2010 - University of Rochester Medical Center

Sensing a Breakthrough

Unique International Collaboration Advances Understanding and Treatment of a Muscular Dystrophy

By Michael Wentzel

Rabi Tawil, M.D.

When researchers pinpointed the genetic mutation that leads to the disease known as facioscapulohumeral dystrophy (FSHD) in 1992, hopes rose that the discovery not only would result in better treatments but also eventually a cure for the disease.
But FSHD, which was first described by French physicians in 1884, is an atypical genetic disease. While the discovery of the genetic defect on chromosome 4 opened new areas of research, it also added to the disease mysteries. This genetic defect involves the loss of a critical number of repetitive pieces of DNA, a sequence called D4Z4. At least 11 copies of the sequence are required for normal health. Those who have fewer than 11 get the disease.