Understanding Down Syndrome as an Interferonopathy

Espinosa, Joaquin M


This project will test the transformative hypothesis that Down syndrome, the genetic condition caused by an extra copy of chromosome 21, or trisomy 21, can be understood in large measure as an immune disorder. This project arises from the observation that people with Down syndrome display chronic immune dysregulation along with hyperactivity in a branch of the immune system known as the interferon response. This hypothesis will be tested through a synergistic combination of human and animal research, likely paving the road for the development of immune-based diagnostics and therapeutic strategies to serve this population.

Down Syndrome Publications