© ISTOCK.COM/FANGXIANUOBecoming a mother changed Heather Etchevers’s life in more ways than she expected. After her daughter was born in 1999 with a rare skin condition known as giant congenital melanocytic nevus (CMN), the developmental biologist engaged with patient groups to understand the condition’s risks, which include myriad neurological disorders, malignancies, and cancer-like growths. But as the dearth of information about her daughter’s condition grew more apparent, she began to see a wealth of research potential. “I realized that things should be getting done that weren’t, and I had some special approaches that others weren’t doing or implementing at the time,” she says.
So Etchevers, who was using functional genomics to study malformations involving embryonic neural crest cells, decided to expand the focus of her research at the French National Institutes of Health (INSERM). But it would be another decade before any projects on CMN got off the ground. Because a rare disorder afflicts, by definition, fewer than 200,000 people in the U.S., patients are difficult to recruit without the help of a clinician, and clinical trials must be kept small so as to have any hope of filling them (giant CMN affects just 1 in 500,000 individuals). Funds are often scarce for research on conditions with such a small market, and the lack of existing literature and investigators working on the same disease can pose added professional ...
