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Profile in Medicine

Avery’s Story: Unlocking the Potential of Gene Therapy for Rare Disease

Patricia Musolino, MD, PhD, leads gene therapy research that is showing promise for treating rare diseases.

by
Mass General Giving
June 3, 2026

At the age of 4, Avery was diagnosed with multisystemic smooth muscle dysfunction syndrome (MSMDS), a rare, genetic disease that affects smooth muscle function and can lead to stroke and aortic dissection in children. Mass General Brigham for Children’s Patricia Musolino, MD, PhD, a critical care and vascular pediatric neurologist with expertise in neurogenetics, is leading pioneering gene therapy research that is showing tremendous promise for correcting this condition in patients like Avery.

To learn more about supporting research like this at Mass General Brigham for Children, contact us.