researchers

Norris, David A MD

University of Colorado Denver

INCLUDE Grants​

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.

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 complete a 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.

Down Syndrome Publications​

Rheumatology (Oxford, England)2021
JAK inhibition for treatment of psoriatic arthritis in Down syndrome
Rheumatology (Oxford, England)2020
Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling.
Alzheimer's & dementia : the journal of the Alzheimer's Association2020
Further understanding the connection between Alzheimer's disease and Down syndrome.
Cell reports2019
Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome.