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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

Joanne Kurtzberg, MD

Jerome S. Harris Distinguished Professor of Pediatrics

Pediatrics

Durham, NC30+ years
Pediatric Hematology-Oncology
Eric Marsh

Eric Marsh, M.D.

Professor of Neurology at the Children's Hospital of Philadelphia; Interim Director, Orphan Disease Center

Neurology

Philadelphia, PA20+ years
Child NeurologyClinical Neurophysiology
Seth Orlow

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

New York, NY30+ years
Pediatric Dermatology
James Bower

James Bower, M.D.

Professor of Neurology, Mayo Clinic

Neurology

Rochester, MN30+ years
Movement Disorders
Wolfgang Singer

Wolfgang Singer, M.D.

Professor of Neurology, Mayo Clinic College of Medicine and Science

Neurology

Rochester, MN20+ years
Neuromuscular MedicineAutonomic Disorders
Anthony Oro

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

Redwood City, CA30+ years
Dermatologic Oncology
Moise Levy

Moise Levy, MD

Professor, Department of Pediatrics and Department of Internal Medicine, Dell Medical School

Dermatology

Austin, TX30+ years
Pediatric Dermatology
Albert Chiou

Albert Chiou, MD

Clinical Professor, Dermatology

Dermatology

Redwood City, CA10+ years
Dermatologic Oncology
Kimberly Morel

Kimberly Morel, M.D.

Associate Professor of Dermatology and Pediatrics at Columbia University Medical Center

Dermatology

New York, NY30+ years
Pediatric Dermatology
Barbara Pober

Barbara Pober, MD

Pediatrics

Boston, MA30+ years
Jordan Orange

Jordan Orange, M.D.

Chair of Pediatrics

Pediatrics

New York, NY20+ years
Pediatric Allergy & Immunology
Craig Blackstone

Craig Blackstone, M.D., PH.D.

Scientific Director, Mass General Brigham Neuroscience Institute

Neurology

Boston, MA30+ years
Jacinda Sampson

Jacinda Sampson, MD, PHD

Professor, Adult Neurology

Neurology

Stanford, CA20+ years
Neuromuscular Medicine
Carla Nester

Carla Nester, M.D.

Jean Robillard Professor of Pediatrics; Division Director, Pediatric Nephrology, Dialysis and Transplantation; Professor of Pediatrics-Nephrology

Pediatrics

Iowa City, IA20+ years
Pediatric Nephrology
Michael Shy

Michael Shy, MD

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

Neurology

Iowa City, IA30+ years
Neuromuscular Medicine
Tyler Reimschisel

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

Cleveland, OH15+ years
Developmental-Behavioral Pediatrics
Christopher McGraw

Christopher McGraw, M.D., PH.D.

Instructor

Neurology

Chicago, IL10+ years
Epilepsy
David Lewis

David Lewis, MD

Naddisy Foundation Professor of Pediatric Food Allergy, Immunology, and Asthma

Pediatrics

Palo Alto, CA30+ years
Pediatric Infectious Diseases
Larry Dashefsky

Larry Dashefsky, M.D.

Neurology

Mayfield Heights, OH30+ years
Clinical Neurophysiology
Matt Marinkovich

Matt Marinkovich, MD

Associate Professor of Dermatology

Dermatology

Stanford, CA30+ years
Dermatological Immunology

Rare Diseases specialists by state

Find rare diseases specialists in your state.

Frequently Asked Questions

How is this national list of rare diseases specialists built?
This page includes physicians in Convene Health's public directory whose profile lists Rare Diseases as a clinical focus area, ranked by composite score (research output, peer recognition, frequency of care, and outcomes signals). Each profile is sourced from the NPI registry, peer-reviewed publication data, board certification records, and the physician's own bio where available.
What should I look for when choosing a rare diseases specialist?
Start with clinical fit — the right specialist for rare diseases depends on the specific subtype and severity of your condition. Compare credentials, hospital affiliations, years of experience, peer-reviewed publications, and how the profile describes their approach. Many top specialists are concentrated at academic medical centers; if you have flexibility on location, the top of this list is a strong starting set.
Are these rare diseases specialists accepting new patients?
Profile detail on availability and accepted insurance varies. Open a specific provider profile to see what they've published about new-patient access, insurance accepted, and typical wait times. Coverage details can change — confirm directly with the practice before your visit.
What is Rare Diseases?
Rare Diseases is a clinical focus area covered by the specialists listed here. Each provider profile describes their training, sub-specialties, and the conditions they regularly treat — open a profile for the most authoritative description of how that specific physician approaches rare diseases care.