Dr. Nora Yang, a Senior Scientist in the Rare Diseases unit at the National Institutes of Health, is dedicated to combatting diseases like muscular dystrophy. Her research focuses on developing gene therapy treatments, which hold immense promise for patients suffering from these debilitating conditions.

Muscular dystrophy disrupts the structural integrity of muscle fibers. The absence or dysfunction of key proteins, such as dystrophin, compromises muscle stability, leading to weakness and degeneration. Within muscle fibers, sarcomeres, the contractile units, are affected. Abnormalities in actin and myosin interactions impair muscle contraction, while scar tissue (fibrosis) further hinders function3.

Gene therapy aims to correct faulty genes responsible for muscular dystrophy. By introducing functional copies of the affected gene, gene therapy can potentially halt or reverse muscle degeneration. The concept of modifying genes to restore muscle health is both exciting and complex. Dr. Nora Yang’s work inspires hope for a brighter future in treating muscular dystrophy.