Disease Studies

The Center for Applied Genomics is one of the world's largest genetics research programs, and the only center at a pediatric hospital to have large-scale access to high-throughput genotyping technology. We currently have over 50 active disease projects – both internally and in collaboration with hundreds of researchers in North America, Europe, and Asia. Our unique resources allow us perform large-scale human genotyping studies: to date, we have analyzed genetic data from over 100,000 individuals.

We are focused on detecting the genetic causes of some of the most prevalent childhood diseases including (but not limited to) asthma, obesity, ADHD, autism, diabetes, inflammatory bowel disease, epilepsy, schizophrenia, and pediatric cancer, all of which are thought to involve multiple, interacting genes within the body. In addition, we have recently extended our recruitment and genotyping efforts to adult disorders, with the help of the University of Pennsylvania Investigators. Our researchers have pioneered a number of important discoveries in recent year and their work has been published in many prestigious journals, including Science, Nature, Nature Genetics, PNAS, and PLoS.

Use the menu bar on the left to review findings from some of our previous studies and learn about exciting projects in which we are currently engaged.