Rare Disease Center Receives $2.5 Million in Grants

The Children's Hospital of Pittsburgh Foundation has announced two grants totaling $2.5 million from the Legacy of Angels Foundation in support of efforts to diagnosis, treat, and care for patients with rare and devastating neurological diseases.

The grants will support the ongoing work of the Program for the Study of Neurodevelopment in Rare Disorders at Children's Hospital of Pittsburgh of UPMC, a part of the recently established Center for Rare Disease Therapy. Launched in 2000, the program focuses on genetic neurodegenerative diseases such as Krabbe disease, an inherited condition caused by a faulty gene, and other leukodystrophies. "Because these diseases are so rare, most physicians may see at most one person in their lifetime," said NDRD director Maria Luisa Escolar. "Through our program, we have seen more than seven hundred patients with rare disorders, performed more than two thousand evaluations, and developed crucial information about these diseases that is unique in the world."

Since 2011, the Legacy of Angels Foundation has donated more than $5 million in support of Escolar's work. The new grants will help support work in the area of gene therapy as well as Krabbe diseases research and the care of patients with the disease. "We are beyond grateful for the Legacy of Angels Foundation and its continued generosity [in supporting] Krabbe research, treatment development, and clinical services for families," Escolar said. "Without this type of help, we would not be able to achieve our goal of improving the quality of life for children with rare disorders and help them develop to their full potential."