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Rare Diseases SpecialistsPage 2

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

Davut Pehlivan

Davut Pehlivan, M.D.

Assistant Professor, Pediatrics and Neurology, Baylor College of Medicine

Pediatrics

Houston, TX20+ years
Neurodevelopmental Disabilities
Christopher Moertel

Christopher Moertel, MD

Kenneth and Betty Jayne Dahlberg Professor of Pediatrics, University of Minnesota School of Medicine

Pediatrics

Minneapolis, MN20+ years
Pediatric Hematology-Oncology
Karthikeyan Venkatachalam

Karthikeyan Venkatachalam, M.D

medical-genetics

Flowood, MS10+ years
Clinical Genetics
Frances High

Frances High, M.D., PH.D.

Pediatrics

Boston, MA15+ years
Paul Harmatz

Paul Harmatz, MD

Professor, Pediatrics

Pediatrics

Oakland, CA30+ years
Pediatric Gastroenterology
Brett McCray

Brett McCray, M.D., PH.D.

Neurology

Ann Arbor, MI15+ years
Aditya Bansal

Aditya Bansal, MD

Assistant Professor of Ophthalmology

Ophthalmology

Lexington, KY15+ years
Retina & Vitreous
Paul Motika

Paul Motika, M.D.

Assistant Professor of Neurology

Neurology

Coos Bay, OR20+ years
Clinical Neurophysiology
Matthew Koslow

Matthew Koslow, M.D.

Pulmonology

Pulmonology

Denver, CO20+ years
Interstitial Lung Disease
Apostolos Psychogios

Apostolos Psychogios, MD

Associate Professor, Pediatric Medical Geneticist

medical-genetics

Morgantown, WV30+ years
Biochemical Genetics
Abdulrazak Alali

Abdulrazak Alali, MD

Associate Professor, Pediatric Medical Genetics

medical-genetics

Morgantown, WV20+ years
Biochemical Genetics
Joseph Shieh

Joseph Shieh, MD

Medical Genetics

medical-genetics

San Francisco, CA20+ years
Clinical Genetics
Irene Chang

Irene Chang, MD

Medical Genetics

medical-genetics

San Francisco, CA10+ years
Clinical Genetics
Marta Waberski

Marta Waberski, MD

Medical Geneticist

medical-genetics

Falls Church, VA15+ years
Clinical Genetics
Natalie Hauser

Natalie Hauser, MD

Medical Biochemical Genetics, Clinical Genetics, Pediatrics

medical-genetics

Falls Church, VA20+ years
Biochemical Genetics
Seda Balkaya

Seda Balkaya, MD

Medical Genetics and Genomics

medical-genetics

New Orleans, LA15+ years
Clinical Genetics
Joyce So

Joyce So, MD

Medical Genetics

medical-genetics

San Francisco, CA
Metabolic MedicineCancer Genetics

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.