Autoimmune diseases and allergy are complex disorders, with both environmental and genetic components. Recent genome wide association studies have identified a large number of genetic variants that contribute susceptibility to these diseases. The vast majority of these variants fall in genes that function in the immune system, underscoring the importance of immune dysfunction in disease initiation and progression. Research is now focused on determining the functional consequences of autoimmune and allergy genetic variants.
The Cerosaletti laboratory is interested in elucidating the impact of autoimmune and allergy genetic variants in T and B cell signaling pathways on the breakdown in immune tolerance in autoimmunity. The group's research utilizes cellular and molecular assays of immune cells isolated from genotyped healthy controls and autoimmune research participants to identify the mechanism of action of genetic variants and the cellular consequences. Current work is focused on genetic variants in the PTPN22, PTPN2, IL2RA, BANK1, IL6R, TYK2, IFIH1, and SH2B3 genes in several autoimmune disorders. Recent work has focused on understanding genetic variants that contribute susceptibility to food allergy, including genetic variants in the IL-33 and TSLP cytokine pathways.
The lab is also analyzing the pancreatic beta cell autoreactive T cells in patients with type 1 diabetes using single cell RNA sequencing with the goal of identifying T cell receptor and transcriptional ‘signatures’ that may be useful biomarkers for disease initiation, progression and response to therapy.
This work will provide insight into the genetic mechanisms underlying autoimmunity and allergy, and has the potential to identify new biomarkers of disease and therapeutic targets for intervention.
Karen Cerosaletti, PhD
Elisa Balmas, PhD
Janice Chen, MS
Shan Wei, MS
Iris Orion, BS