Maria Luisa Escolar, MD, MS

  • Professor of Pediatrics
  • Director, Program for the Study of Neurodevelopment in Rare Disorders, UPMC Children's Hospital of Pittsburgh

Administrative Assistant: Sarah Klotz

Maria Escolar is a tenured Professor of Pediatrics and Neurodevelopmental Disabilities at the University of Pittsburgh. She graduated with a Master of Science in Nutrition from Columbia University and completed her residency and fellowship at Cornell University Medical Center. Dr. Escolar began her research on rare neurodegenerative disorders in 2000, when she established the Program for the Study of Neurodevelopment in Rare Disorders (NDRD). Since then, she has published over 70 original research papers in peer-reviewed journals, including two influential publications in the New England Journal of Medicine.

Escolar is interested in the interactions of genes, brain, and behavior. She explores the use of biomarkers, as well as how neurobehavioral, neuroradiological, and neurodevelopmental outcome measures can be used to determine the extent of disease progression in patients suffering from rare diseases. More specifically, her research is focused on studying the natural course of rare genetic neurodegenerative diseases through neuroradiological testing, behavioral phenotype, genetic mutations, and the investigation of biomarkers, made possible through the NDRD’s longitudinal tissue repository.  

Professional and Scientific Society Memberships

  • New York State Krabbe Newborn Screening Consortium, 2006-Present 
  • MLD Foundation, Medical and Scientific Advisory Board, 2008-Present 
  • Advisory Committee for the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (U54), 2008-2017 
  • Clinical & Translational Science Awards (CTSA) Consortium Child Health Oversight Committee, 2010-2013 
  • Founder, Krabbe Translational Research Network (KTRN), 2010-Present 
  • American College of Medical Genetics, Newborn Screening Translational Network Workgroup, 2010-Present 
  • Jacob’s Cure, Medical Advisory Board, 2010-Present 
  • Global Leukodystrophy Association (GLIA), 2013-Present 
  • National Krabbe Newborn Screening Council, 2019-Present 

Education & Training

  • MD, Escuela Colombiana de Medicina, 1986
  • MS, Human Nutrition, Columbia University College of Physicians and Surgeons, 1988
  • Internship in Pediatrics, New York Hospital-Cornell Medical Center, 1990-1991
  • Residency in Pediatrics, New York Hospital-Cornell Medical Center, 1991-1993
  • Fellowship in Child Development and Behavioral Pediatrics, New York Hospital-Cornell Medical Center, 1993-1995

Selected Publications

Rousch J, Holcomb M, Rousch P, Escolar ML. When hearing loss occurs with multiple disabilities. Seminars in hearing. 2004 November; 25(04):333-345. 

Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, Allison-Thacker J, Wood S, Wenger DA, Rubinstein P, Hopwood JJ, Krivit W, Kurtzberg J. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004 May 6;350(19):1960-9. PubMed PMID: 15128896. 

Myers LA, Hershfield MS, Neale WT, Escolar M, Kurtzberg J. Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. J Pediatr. 2004 Nov;145(5):710-2. PubMed PMID: 15520787. 

Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W, Kurtzberg J. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005 May 19;352(20):2069-81. PubMed PMID: 15901860. 

McGraw P, Liang L, Escolar M, Mukundan S, Kurtzberg J, Provenzale JM. Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements--initial experience. Radiology. 2005 Jul;236(1):221-30. PubMed PMID: 15987975. 

Dusing SC, Rosenberg A, Hiemenz JR, Piner S, Escolar M. Gross and fine motor skills of children with Hurler syndrome (MPS-IH) post umbilical cord blood transplantation: a case series report. Pediatr Phys Ther. 2005 Winter;17(4):264-7. Erratum in: Pediatr Phys Ther. 2006 Spring;18(1):48. PubMed PMID: 16357681. 

Provenzale JM, Escolar M, Kurtzberg J. Quantitative analysis of diffusion tensor imaging data in serial assessment of Krabbe disease. Ann N Y Acad Sci. 2005 Dec;1064:220-9. Review. PubMed PMID: 16394159. 

Husain AM, Escolar ML, Kurtzberg J. Neurophysiologic assessment of mucopolysaccharidosis III. Clin Neurophysiol. 2006 Sep;117(9):2059-63. PubMed PMID: 16884953. 

Escolar ML, Poe MD, Martin HR, Kurtzberg J. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics. 2006 Sep;118(3):e879-89. PubMed PMID: 16923928. 

Dusing SC, Thorpe D, Rosenberg A, Mercer V, Escolar ML. Gross motor abilities in children with Hurler syndrome. Dev Med Child Neurol. 2006 Nov;48(11):927-30. PubMed PMID: 17044963. 

Full Publication List via NIH PubMed