Rare Diseases Specialists
37 verified specialists treating rare diseases from across the United States are listed on this page. Top affiliations among the highest-ranked specialists include Duke Children's Hospital & Health Center, Duke University Hospital, and Children's Hospital of Philadelphia. Drill into a state below to find specialists nearer to you, or compare individual profiles for credentials, focus areas, and clinical depth.


Joanne Kurtzberg, MD
Jerome S. Harris Distinguished Professor of Pediatrics
Pediatrics


Eric Marsh, M.D.
Professor of Neurology at the Children's Hospital of Philadelphia; Interim Director, Orphan Disease Center
Neurology


Seth Orlow, M.D.
Chair, Ronald O. Perelman Department of Dermatology; Weinberg Professor of Pediatric Dermatology; Professor of Cell Biology and Pediatrics, NYU Grossman School of Medicine; Director of Cutaneous Biology
Dermatology


James Bower, M.D.
Professor of Neurology, Mayo Clinic
Neurology


Wolfgang Singer, M.D.
Professor of Neurology, Mayo Clinic College of Medicine and Science
Neurology


Anthony Oro, MD
Eugene and Gloria Bauer Professor of Dermatology; Associate Director, Center for Definitive and Curative Medicine; Co-Director, Child Health Research Institute
Dermatology


Moise Levy, MD
Professor, Department of Pediatrics and Department of Internal Medicine, Dell Medical School
Dermatology


Albert Chiou, MD
Clinical Professor, Dermatology
Dermatology


Kimberly Morel, M.D.
Associate Professor of Dermatology and Pediatrics at Columbia University Medical Center
Dermatology


Barbara Pober, MD
Pediatrics


Jordan Orange, M.D.
Chair of Pediatrics
Pediatrics


Craig Blackstone, M.D., PH.D.
Scientific Director, Mass General Brigham Neuroscience Institute
Neurology


Jacinda Sampson, MD, PHD
Professor, Adult Neurology
Neurology


Carla Nester, M.D.
Jean Robillard Professor of Pediatrics; Division Director, Pediatric Nephrology, Dialysis and Transplantation; Professor of Pediatrics-Nephrology
Pediatrics


Michael Shy, MD
Professor of Neurology, Pediatrics, and Physiology; Director, Neuromuscular and Neurogenetics Divisions, University of Iowa
Neurology


Tyler Reimschisel, MD
Division Chief, Neurology and Epilepsy, Department of Genetics and Genome Sciences, University Hospitals; Professor, Department of Pediatrics and Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine
Pediatrics


Christopher McGraw, M.D., PH.D.
Instructor
Neurology


David Lewis, MD
Naddisy Foundation Professor of Pediatric Food Allergy, Immunology, and Asthma
Pediatrics


Larry Dashefsky, M.D.
Neurology


Matt Marinkovich, MD
Associate Professor of Dermatology
Dermatology
Rare Diseases specialists by state
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