How a Chance Encounter Led One Mass General Researcher on a Decade Long Journey of Discovery

Not all research projects start in the lab. As it turns out, some can start on a walk to Whole Foods.

For Alexander Marneros, MD, PhD, a dermatologist and researcher at Massachusetts General Hospital, a decade-long journey of discovery began with a chance encounter on his way to lunch.

As he walked by a father who was pushing his young son in a stroller, Marneros noticed a scar on the back of the boy’s head.

He recognized it as aplasia cutis, a curious congenital scalp skin wound which results in scarring on the back of the head, but nowhere else on the body.

Though he had never studied the disease before, Marneros knew that the gene underlying the condition had not been found.

On impulse, he turned around, introduced himself, and asked the father if anyone else in the family had the same scar.

The father leaned down, parted his hair, and showed Marneros a telltale scar on his scalp. He told him that many other members of his family had it as well.

Marneros, who knew that the inherited form of aplasia cutis was incredibly rare, then made a second spontaneous decision—he would work with this family to find the gene behind the disease.

“I find this disease very interesting because of the very localized skin defect,” he explains. “Why wouldn’t it be everywhere?”

Learning more about this curious condition could lead to new insights into the development and mechanisms of skin formation.

Marneros invited the father to have coffee with him and the journey of discovery started from there. Learn more.