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Expert in Pediatric Neurodegenerative Diseases Appointed to Lead New Rare Disorders Program at Children’s Hospital of Pittsburgh of UPMC

PITTSBURGH, Sept. 6, 2011 Maria Escolar, M.D., M.S., nationally and internationally known for her groundbreaking work to improve the treatment of children with neurodegenerative diseases, has been appointed director of the new Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at Children’s Hospital of Pittsburgh of UPMC. The program is the only one of its kind in the United States.

Children’s new NDRD program will provide evaluation, education, research and intervention for patients from around the world with rare, inherited neurological conditions. The program’s multidisciplinary approach focuses on the interactions of genes, brain and behavior, and their effects on child development. The goal with every patient is to improve quality of life and help children reach their full potential through innovative research and clinical interventions.

Dr. Escolar, also an associate professor of pediatrics at the University of Pittsburgh School of Medicine, leads a team that provides ongoing services for more than 500 patients with rare metabolic disorders. Their experience, combined with ongoing clinical research, provides the expertise to assess the multi-system needs of these children and to plan appropriate management, therapies and palliative care. The NDRD team also consults with local health care providers and educators to assist them in providing care to children with these rare diseases.

“Dr. Escolar’s work using qualitative and quantitative methods for determining the neurodevelopmental outcome of bone marrow transplantation for children with rare neurodegenerative diseases is groundbreaking,” said David H. Perlmutter, M.D., physician-in-chief and scientific director at Children’s Hospital, and the Vira I. Heinz Professor and chairman of the Department of Pediatrics at the University of Pittsburgh School of Medicine. “Children with these diseases now come to her team from all over the world and she is broadly recognized for using state-of-the-art, comprehensive and multidisciplinary approaches and tools for evaluating the outcome of cord blood transplantation and other interventions.”

Dr. Escolar is internationally recognized for her research into the neurodevelopment of children with leukodystrophies and mucopolysaccharidosis. Her research focuses on behavioral and neuroimaging outcome measurements, and she is engaged in multiple international research studies to examine the natural history of, and new treatments for, Krabbe disease, mucopolysaccharidosis and other neurodegenerative disorders.

Dr. Escolar began her program in 2000 at the Center for Development and Learning at the University of North Carolina to help children and their families understand the overall impact of rare neurological diseases in child development. The program initially focused only on lysosomal storage disorders but has since expanded to more than 20 rare inherited disorders. Her team has performed more than 1,000 evaluations on more than 500 children from around the world.

Dr. Escolar is a graduate of the Escuela Colombiana de Medicina in Bogota, Colombia. She has a master's of science in Human Nutrition from Columbia University and completed a residency in Pediatrics and fellowship in Child Development and Behavioral Pediatrics at Cornell University Medical Center in 1995. She is board-certified in Neurodevelopmental Disabilities and has had 15 years of experience as a practicing clinician and researcher. Her research is funded by the National Institutes of Health and has been published in numerous academic journals, including the New England Journal of Medicine.

For more information about Dr. Escolar, the NDRD or Children’s Hospital of Pittsburgh of UPMC, please visit www.chp.edu.

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