Rachubinski, Angela Lynn PHD

INCLUDE Grants​

Human Trisome Project - Latin America Network

Espinosa, Joaquin MFidler, Deborah JRachubinski, Angela Lynn

People with Down syndrome, the genetic condition caused by trisomy 21, display a unique clinical profile across the lifespan, including much elevated rates of diverse co-occurring conditions. Research efforts investigating the mechanisms by which trisomy 21 causes the hallmarks of Down syndrome, as well as the factors that modify these effects, will accelerate discoveries to improve health outcomes in this population. This project aims to develop a network of Down syndrome research sites in the USA and Latin America to increase the racial, ethnic, and socio-cultural diversity of investigations of the population with Down syndrome.

JAK Inhibition in Down Syndrome

Espinosa, Joaquin MGurnee, EmilyNorris, David ARachubinski, Angela Lynn

People with Down syndrome (DS) display profound immune dysregulation, which could have myriad negative impacts on their health, including the development of various immune and neurological disorders. Multiple lines of evidence indicate that hyperactivation of interferon (IFN) signaling drives immune dysregulation in DS. This proposal aims to expand activities in an ongoing clinical trial in adults with DS and immune skin conditions, using a pharmacological inhibitor of IFN signaling, which is expected to have multidimensional therapeutic benefits in this population.