Sensing a Breakthrough
Unique International Collaboration Advances Understanding and Treatment of a Muscular Dystrophy
By Michael Wentzel![Rabi Tawil, M.D.](http://www.urmc.rochester.edu/news/publications/rochester-medicine/summer-2010/images/breakthrough-1.jpg)
Rabi Tawil, M.D.
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.
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