from the annual meeting of the Society for Pediatric Dermatology in Philadelphia
Never doubt that a small group of thoughtful, committed, citizens can change the world. Indeed, it is the only thing that ever has.
This morning I listened to Dr. Fred Kaplan, an orthopedic surgeon at the Hospital of the University of Pennsylvania, Philadelphia, talk about Progressive Osseous Heteroplasia–or POH–a rare genetic condition, in which the body produces bone inside skin, subcutaneous tissue, muscles, tendons, and ligaments. In patients with this disease, nodules and lace-like webs of extra bone extend from the skin into the subcutaneous fat and deep connective tissues, and may cross joints–leading to stiffness, locking of joints, and permanent immobility.
Researchers now know that POH is caused by heterozygous inactivating mutations in the GNAS gene. They know this thanks to some high school students, who raised more than $100,000 on behalf of a fellow student stricken with the disease. The money allowed Dr. Kaplan and his colleagues to fund a couple of fellows to work on the genetics behind the disorder. They found the GNAS mutations.
The story is similar to that of Portia Iverson, whose son was diagnosed with autism. In order to help researchers study possible genetic components of autism, she put together a team that traveled the country collecting blood from families with at least two autistic children. The resulting DNA bank is helping researchers identify candidate genes through genome-wide association studies that compare DNA of autism families with that of healthy controls.
Both stories point to how much power motivated patients, family, friends, and community really do have to make a difference in medical research.
—Kerri Wachter ( @knwachter on Twitter)