Stephen F Kingsmore MD ChB BAO DSc FRCPath

President and CEO, Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA

Rady Children's Hospital3020 Children's WaySan Diego, CA 92123

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Summary

Dr. Stephen Kingsmore, based in San Diego, CA, is a research specialist with a focus on genomic and pediatric precision medicine. Kingsmore's educational background includes advanced training in internal medicine, rheumatology, and molecular medicine, with various roles and fellowships at Duke University Hospital and Queen's University Belfast. Kingsmore is currently President and CEO of the Rady Children's Institute for Genomic Medicine, contributing significantly to genome sequencing and pediatric medical genetics. Kingsmore has published several research articles and participated in clinical trials focused on genomic sequencing and newborn screening. Kingsmore has received multiple honors, including the Luminary Award from the Precision Medicine World Conference and was recognized by Guinness World Records for the fastest genetic diagnosis.

Education & Training

Queens University BelfastD.Sc., Molecular Medicine, 2011
Royal College of PathologistsF.R.C. Path., Molecular Genetics, 2011
Duke University HospitalFellowship, Rheumatology, 1993 - 1994
Duke University HospitalResidency, Internal Medicine, 1991 - 1993
Duke University HospitalInternship, Internal Medicine, 1990 - 1991

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Certifications & Licensure

American Board of Internal Medicine Internal Medicine
Royal College of PathologistsFellow

Awards, Honors, & Recognition

David F. Hale endowed Chair in Genomic Medicine Rady Children’s Hospital
Member Society for Pediatric Research
Luminary Award Precision Medicine World Conference, 2022

Clinical Trials

Observational Study of Sepsis and Pneumonia to Develop Diagnostic Tests
UNKNOWN
Genomic Sequencing in Acutely Ill Neonates
COMPLETED
NA
Rady Children's Institute Genomic Biorepository
RECRUITING
NA

Publications & Presentations

PubMed

2 citations
Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation.
Tara A Lavelle, Jill L Maron, Stephen F Kingsmore, Ching-Hsuan Lin, Yingying Zhu
The Journal of Pediatrics. 2026-02-01
Systematic review and meta-analysis of humoral immunity proteins and mortality in sepsis.
Antoine Villa, Fiona Dewar, Walter Pisciotta, Ankit Rai, Sven Kerneis
Critical Care. 2025-12-22
1 citations
A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.
Lu Wang, Yuji Nakamura, Junhao Li, David Sievert, Yang Liu
Cell Stem Cell. 2025-12-04

Other

System for genome analysis and genetic disease diagnosis
Kingsmore, US Patent 9,940,434
https://ppubs.uspto.gov/api/patents/html/9940434?source=USPAT&requestToken=eyJzdWIiOiJhMzQ0OTI1OS0zYTIwLTQ4NmItODQ3MS0zYzIxM2M2ZTZkN2MiLCJ2ZXIiOiIwMDljZTJlZi02NTU2LTQ1M2YtOGY5ZC0xOTNjODE5NzY1YzIiLCJleHAiOjB9
2018-04-10 - 4/10/2018
Methods and systems for medical sequencing analysis
Kingsmore, US Patent 8140270
https://ppubs.uspto.gov/api/patents/html/8140270?source=USPAT&requestToken=eyJzdWIiOiJhMzQ0OTI1OS0zYTIwLTQ4NmItODQ3MS0zYzIxM2M2ZTZkN2MiLCJ2ZXIiOiIwMDljZTJlZi02NTU2LTQ1M2YtOGY5ZC0xOTNjODE5NzY1YzIiLCJleHAiOjB9
2012-03-20 - 3/20/2012
Biomarkers for sepsis
Kingsmore, US Patent 8,029,982
2011-10-04 - 10/4/2011

Press Mentions

Tackling Rare Diseases in 2023April 12th, 2023
England’s National Health Service to Offer Widespread Rapid Whole Genome Sequencing for Children and BabiesMarch 13th, 2023
It Takes an Average of 8 Years for a Rare Disease Patient to Get Diagnosed. Why Is It so Hard to Get Life-Altering Genetic Testing in the U.S.?March 1st, 2023

Grant Support

Genomic and Environmental Determinants of Infant Deaths in San Diego County in 2015-2022RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE2020–2025
Identification Of Common And Uncommon Gene Variants In PBCNational Institute Of Diabetes And Digestive And Kidney Diseases2011
Plasma Protein Biomarker-Based Diagnostics Of Outcome In Sepsis And CAPNational Institute Of Allergy And Infectious Diseases2007–2010
Plasma Protein Biomarker-Based Diagnostics Of Outcome I*National Institute Of Allergy And Infectious Diseases2006
Plasma Protein Biomarker-Based Diagnostics Of Outcome InNational Institute Of Allergy And Infectious Diseases2005