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.
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.
CHOP congratulates Kathleen E. Sullivan, MD, PhD, Chief of the Division of Allergy and Immunology, who received the 2017 Boyle Scientific Achievement Award earlier this year from the Immune Deficiency Foundation (IDF).
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.
Our weekly installment of In the News keeps an eye out for the latest research happenings. This week we're excited to report on a second award for an innovative technology solution to access, filter, and harness emerging disease updates.
A self-proclaimed “geeky student” in high school, Stewart Anderson, MD, a research psychiatrist, always dreamed of being a scientist. He wandered through various fields — anthropology, archeology, geology, astronomy – before becoming fascinated with learning about the brain.
Christoph Seiler, PhD, received a Foerderer Fund for Excellence award at The Children’s Hospital of Philadelphia in 2015 to study this mechanism. German-born Dr. Seiler pointed out that “Foerderer,” in German, means supporter or sponsor. Its name is therefore apt, because the internal award program spurs research projects that need a bit of support to generate pilot data that can later help those projects stand out in the competitive awarding of external funds.