Rachubinski, Angela Lynn PHD

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.

People with Down syndrome display increased risk of developing diverse co-occurring conditions, but the mechanisms driving this unique clinical profile are yet to be defined. This project will develop a biobanking research infrastructure that could support a wide range of investigations by a multidisciplinary team of researchers through the collection of diverse biospecimens using harmonized protocols. These activities will greatly accelerate the pace of discoveries benefiting persons with Down syndrome.

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.