Medical School Pathology: Pathophysiology of Muscular Dystrophy

[@moshesadofsky9429]

Thanks for the overview of these diseases! You mentioned the large Dystrophin gene (and protein). Also on your diagram is Titin, the largest protein in our genome, and with the greatest number of exons. Treatment of Dystrophin disease is one of the first gene therapies in clinical trials. Hopes are high!

[@PathologyCentral]

Thank you, Dr. Sadofsky!

[@moshesadofsky9429]

A little more on Gene Therapy. Disappointment, as there have been two deaths in two separate trials. It is not clear yet why, but suspicion falls on the patients reaction to the viral vectors that delivered the gene payload rather than to the principle itself. Nevertheless, this will be a slow process requiring basic science improvements.