DiGeorge Syndrome | CHOP Research Institute

Dr. Stoller is a neonatologist at Children's Hospital of Philadelphia, specializing in the genetic causes of neonatal disease. His research interests lie in the genetic basis of cardiac development and the molecular mechanisms of congenital heart disease.

E-mail:

stoller [at] chop.edu

Sullivan Laboratory

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.

Emanuel Laboratory

The Emanuel Lab investigates diseases caused by abnormalities of human chromosome 22.

Kathleen E. Sullivan, MD, PhD

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

Beverly S. Emanuel, PhD

Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.

E-mail:

emanuel [at] chop.edu

Breastfeeding Practices, Cardiac Life Support, Vaccination Schedules, Face Recognition Diagnosis, American Academy Election, AAPOS Award

Published on

Apr 21, 2017

in Cornerstone Blog

A simple question raised by a concerned parent can often kick-start lines of research at Children's Hospital of Philadelphia. This week in the news, those sorts of everyday queries - whether they're about how to breastfeed, why parents should follow a vaccine schedule, or how mechanical circulatory support devices work - led to exciting headline-making stories.