In This Section

Contact
E-mail
gurnettc [at] chop.edu
Phone
Location - People View
10th Floor, 10561

3500 Civic Center Blvd
Philadelphia, PA 19104
United States

Research Topics
Christina A. Gurnett, MD, PhD
Christina A. Gurnett, MD, PhD
Chief of the Division of Neurology

Dr. Gurnett works to understand the genetic basis of neurodevelopmental and musculoskeletal disorders. She also focuses on building tools and partnerships to advance rare disease research.

AddtoAny
Share:

WATCH THIS PAGE

Subscribe to be notified of changes or updates to this page.

1 + 2 =
Solve this simple math problem and enter the result. E.g. for 1+3, enter 4.

Bio

Dr. Gurnett’s overall research goal is to improve human health by implementing precision medicine. Her laboratory has produced major discoveries regarding the genetic etiology of scoliosis, clubfoot, arthrogryposis, and neurodevelopmental disabilities. These include the identification of genetic disruptions of the PITX1-TBX4-HOXC developmental pathway involved in limb development in clubfoot.

Dr. Gurnett has also identified multiple risk factors for severe scoliosis, including common missense variant in the manganese transporter SLC39A8, rare missense variants in fibronectin type III domain-containing protein 1 (FNDC1) and other matrisome genes (COL11A1 and COL11A2), and distal chromosome 16p11.2 duplications including SH2B1. Her laboratory now focuses on understanding the functional effects of variants of uncertain significance as well as uncovering additional causes of these complex genetic conditions.

Dr. Gurnett has had many roles in the national network of National Institute of Child Health and Human Development-funded Intellectual and Developmental Disabilities Research Centers (IDDRC). She leads the IDDRC National Brain Gene Registry in which investigators at 12 centers study children with autism and intellectual and developmental disabilities to understand the impact of rare genetic variants.

The Brain Gene Registry integrates a standardized remotely delivered neurobehavioral assessment tool with electronic health record data. Her team applies artificial intelligence strategies to extract content from the electronic health record to reduce research burden on families and clinicians.

During the COVID-19 pandemic, Dr. Gurnett was part of a Washington University team that developed and deployed a saliva assay to detect the SARS-CoV-2 virus in schools for children with disabilities.

Dr. Gurnett is involved in many innovative educational efforts to engage high school, undergraduate, and graduate students in neuroscience research. An enthusiastic mentor, Dr. Gurnett believes that science is on the cusp of translational breakthroughs for many rare diseases, and thoroughly enjoys training the next generation of clinicians, scientists, and translational researchers.

Education and Training

Fellow, St. Louis Children’s Hospital (Pediatric Epilepsy), 2004

Resident, Barnes-Jewish Hospital and St Louis Children's Hospital, Washington University Medical School (Pediatric Neurology), 2002

Resident, University of Iowa (Pediatrics), 2000

PhD, University of Iowa (Physiology and Biophysics), 1998

MD, University of Iowa, 1998

BS, University of Notre Dame (Biology), 1991

Titles and Academic Titles

Chief of the Division of Neurology

Professional Memberships

Child Neurology Society

American Epilepsy Society

MED13L Foundation Board

Professional Awards

Carl and Gerti Cory Faculty Achievement Award, 2024

Jean Holowach Thurston Award, 2021

Top Doctor, Castle Connolly, 2020-2025

Johnson Memorial Lecture Award, Nationwide Children's Hospital, 2020

A. Ernest and Jane G Stein Professor of Developmental Neurology, 2018

University of Iowa Carver College of Medicine Distinguished Alumni Award, 2018

Distinguished Researcher Award, Marfan Foundation, 2017

Kappa Delta Ann Doner Vaughn Award, Orthopaedic Research and Education Foundation, 2017

Nicholas Andry Award, Association of Bone and Joint Surgeons, 2017

Academic Medical Leadership Program for Physicians and Scientists, 2017