CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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.
Click on the links below to explore further.

  • Weblink to CAG ADHD programAttention-Deficit/Hyperactivity Disorder
    Our group has been at the forefront of ADHD research for over a decade. We have led several prominent studies showing that structural changes in our genetic material called copy number variations (CNVs) are associated with ADHD. We are conducting clinical trials using a small synthetic molecule and metabotropic glutamate receptor activator known as NFC-1 (fasoracetam monohydrate). These will allow us to determine the safety and efficacy of NFC-1 in alleviating ADHD symptoms.
  • Weblink to CAG asthma programAsthma and Autoimmune Diseases
    CAG has led several high profile studies showing that genetic risk factors for autoimmune diseases are shared across a range of diseases, including asthma, lupus, CVID, IBD, type 1 diabetes, and juvenile arthritis. We have identified novel and significant genetic regions associated with autoimmune disease risk. Many of these genes encode proteins that are established therapeutic targets with diverse biological effects. We are currently being exploring these for clinical uses and actively pursuing drug-re-purposing.
  • Weblink to CAG autism programAutism
    CAG has been leading medical breaking breakthroughs in autism for several years, and our ultimate goal is to turn landmark research into successful treatments. Our group was the first to demonstrate that structural changes in the genome called copy number variations (CNVs) are associated with autism, specifically in a network of genes called the metabotropic glutamatergic (mGluR) network, and we previously identified the first genome-wide significant association for autism.
  • Weblink to CAG cancers and tumors programCancers and Tumors
    The Center for Applied Genomics has been at the forefront of research into the genetic causes of neuroblastoma and testicular cancer. Neuroblastoma most commonly affects children age 5 or younger, though it may rarely occur in older children. It is the most common type of cancer in infantsTesticular cancer is the most common form of cancer in men between the ages of 15 and 34, but also peaks in infancy, as well as in men over the age of 60. CAG has had a major impact on our understanding of these diseases.
  • Weblink to CAG IBD programIBD - Crohn's Disease and Ulcerative Colitis
    We were the first group to identify a close genetic relationship between early- and adult-onset IBD, and the first group to demonstrate the power of stratification of IBD by age of onset to identify genetic risk factors. We also have a mature translational program exploring novel therapeutics for both Crohn's and ulcerative colitis.
  • Weblink to CAG rare disease programRare Diseases
    We are home to 12,000 rare disease patients, and CHOP is a healthcare provider for fully 10% of children in the United States with a rare disease. A major emphasis for CAG has been resolving previously unresolved diseases. We have an established CLIA lab and team, and long-standing expertise in genome discovery in rare diseases. This has driven our rare disease discovery program, yielding discoveries in more than 40 diseases to date.