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 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.
An international collaboration will delve into why patients with chromosome 22q11.2 deletion syndrome have an elevated risk of schizophrenia and other psychiatric illnesses. Genetics experts from The Children's Hospital of Philadelphia are among the top leaders of this major collaboration, which aims to discover the genes implicated in the syndrome and shed light on the biological causes of mental illness in the general population.