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Ian M. Cambell, MD, PhD
Ian M. Campbell
Assistant Professor of Pediatrics

Dr. Campbell is interested in approaches to improve diagnosis of children with rare genetic diseases. He also focuses on better understanding of the full spectrum of symptoms associated with genetic diseases as well as discovering new diseases.



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As a clinical geneticist, Dr. Campbell’s mission is to ensure that every child with a rare genetic disease is diagnosed as quickly and accurately as possible. By harnessing the power of the extensive data contained within the Children's Hospital of Philadelphia electronic health record (EHR), he uses state-of-the art techniques to define and diagnose rare, pediatric-onset genetic diseases. These techniques include statistical models and machine learning.

Dr. Campbell also researches how genomic data can be discretely entered into a patient’s EHR and how this information can be used by clinicians to improve the care of their patients. He helped implement the “Epic Genomics” functionality at CHOP and strives to continuously improve how the hospital uses this genetic information to deliver precision clinical care.

Dr. Campbell is also interested in improving access to genetic care so that it is as equitable as possible, regardless of a patient’s racial or ethnic background, socioeconomic status, or geographic location. To this end, he studies how telemedicine influences the delivery of genetic care.

Education and Training

BS, University of Tennessee (Biochemistry, Cellular and Molecular Biology), 2008

PHD, Baylor College of Medicine (Molecular and Human Genetics), 2015

MD, Baylor College of Medicine, 2016

Residency, Children's Hospital of Philadelphia (General Pediatrics / Medical Genetics), 2020

Fellowship, Children's Hospital of Philadelphia (Clinical Informatics), 2022

Titles and Academic Titles

Attending Physician

Assistant Professor of Pediatrics

Professional Memberships

American Society for Human Genetics, 2010-

American Academy of Pediatrics, 2016-

American Medical Informatics Association, 2017-

American College of Medical Genetics, 2021-

Professional Awards

The Outstanding Undergraduate: Biological Sciences, Biochemistry, Cellular and Molecular Biology Concentration, University of Tennessee, 2008

Deborah K. Martin Award for Outstanding Achievement in Biomedical Sciences, Baylor College of Medicine, 2014

ASHG / Charles J. Epstein Award for Excellence in Human Genetics, 2014

Baylor College of Medicine Medical Scientist Training Program Publication Award, 2015

American Society for Clinical Investigation / Association of American Physicians Travel Award, 2016

40th Annual David W. Smith Dysmorphology Conference Best Oral Presentation by a Trainee, 2020

41st Annual David W. Smith Dysmorphology Conference Best Poster Presentation by a Trainee, 2021

Publication Highlights