Dr. Mascarenhas is director of the Nutrition Support Service, section chief of nutrition in the Division of Gastroenterology and Nutrition, medical director of the Clinical Nutrition Department, and director of the Integrative Health Program. Her research interests involve 22q deletion syndrome, cystic fibrosis, nutrition, and integrative medicine.
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.
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.