Chromosome 22q11.2 Deletion Syndrome | CHOP Research Institute
 

Chromosome 22q11.2 Deletion Syndrome

Cornerstone Blog

Can Medication Improve Blood-Brain Barrier Function in 22q Deletion Syndrome?

Published on
Nov 5, 2025
Mitochondria in brain endothelial cells
Targeting the mitochondria improved blood-brain barrier function and cognition in a preclinical model of the genetic disorder.
Cornerstone Blog

CHOP Genetic Counselor Builds Connections with 22q11.2 Deletion Syndrome Families

Published on
Nov 26, 2024
CHOP Genetic Counselor Connects With 22q11.2 Deletion Syndrome Families
Donna McDonald-McGinn, Director of the 22q and You Center, received a Dedication to Service award for her lifelong 22q11.2 deletion syndrome work.
Cornerstone Blog

Faculty Spotlight: Hippocampal Hyperexcitability With Srdjan Joksimovic, PharmD, PhD

Published on
Mar 27, 2024
Hippocampal Hyperexcitability With Srdjan Joksimovic, PharmD, PhD
Srdjan Joksimovic, PharmD, PhD, our March Faculty Spotlight, studies the neuronal circuitry that underlies the mechanisms of complex brain disorders.
Cornerstone Blog

Researchers Explore Connection Between Mitochondrial Function and Schizophrenia in 22q11DS

Published on
Jul 19, 2021
Mitochondrial Function and Schizophrenia in 22q11DS
CHOP and Penn researchers find connection between mitochondrial function and mental illness in patients with a rare genetic disorder.

Sullivan Laboratory

Sullivan Lab

The Sullivan Lab has a broad interest in immune dysfunction. This can underlie susceptibility to infections and autoimmunity and inflammation. The investigators in the lab use cutting-edge approaches to investigate cause in individual patients and to look at population-wide causes of disease.

Kathleen E. Sullivan, MD, PhD
Photo of Kathleen E. Sullivan

Dr. Sullivan's research focuses on new and rare immunodeficiencies. She has a long-standing interest in one of the most common of the primary immunodeficiencies – chromosome 22q11.2 deletion syndrome. She also investigates common variable immunodeficiency, as well as the genetics and epigenetics of systemic lupus erythematosus.

E-mail:
sullivank [at] chop.edu