Melissa Spencer, Ph.D. 

Melissa Spencer, Ph.D., studies the biological causes of genetically inherited muscular dystrophies in order to identify novel treatments and improve quality of life for patients. Spencer takes a multidisciplinary approach to her work to gain insights into how muscular dystrophies relate to the body’s natural processes and ensure that findings will be translatable from animal models to humans.

One area of focus in Spencer’s lab is Duchenne muscular dystrophy, which affects approximately 1 in 5,000 boys in the U.S. and is the most common fatal childhood genetic disease. Duchenne occurs through mutations in a gene that produces dystrophin, a protein that helps strengthen and connect muscle fibers. Duchenne mutations cause abnormally low production of the dystrophin protein, which in turn causes muscles to degenerate and become progressively weaker.

Spencer is particularly interested in how the immune system’s natural muscle repair processes go awry in patients with Duchenne, exacerbating disease symptoms. In patients without Duchenne, the immune system plays a key role in repairing injured muscle throughout life. Duchenne causes muscle weakness and degeneration, sending the immune response process into overdrive. Constant wound repair leads to inflammation, which causes muscle tissue to scar and thicken, ultimately limiting muscle function. Spencer has focused on studying the components of the immune system involved in this process in order to identify cellular or protein targets for therapies that rein in abnormal immune response. This work has led to the identification of a drug that is currently being evaluated in preclinical studies.

Spencer is simultaneously investigating another potential therapeutic avenue to treat Duchenne. In collaboration with stem cell center colleagues, Spencer developed an approach that uses the stem cell gene editing platform CRISPR/Cas9 to correct the genetic mutations that cause Duchenne. She and her collaborators are now working on identifying novel delivery methods such as nanotechnologies that could bring this promising therapy to patients with minimal side effects.

Spencer is also collaborating on the development of a drug to treat limb girdle muscular dystrophy type 2A, also known as primary calpainopathy, a genetic disease characterized by progressive weakness in the limb and shoulder girdle muscles, mainly those around the hips and shoulders. This drug is currently being evaluated in animal models.

Spencer earned her doctorate in physiological science from UCLA.