Science in the Triangle

Dr. Maria Escolar

Dr. Maria Escolar was a 35-year-old pediatrician overseeing a program for doctors in training at Duke University 12 years ago when she saw her first patient with Krabbe disease.

Named after a Danish neurologist who first described it in 1913, Krabbe disease is a rare, genetic disorder that is painful and damages mental and motor skills. Children with the disease show no symptoms at birth, but without treatment they go deaf and blind and usually die by the time they are 3.

“It’s one of the most horrible diseases I’ve ever encountered,” Escolar said. Read more…