The Su research group is interested in understanding the genetics of autoimmune diseases using both mouse models and patient samples. Our work is highly translational and aims to have direct relevance to human disease. One of our approaches is to study rare Mendelian autoimmunity syndromes in order to determine the contributions of a particular gene to developing autoimmunity. We have focused on Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1 or APECED), a rare condition due to mutations in the Autoimmune Regulator (Aire) gene. We are interested in how Aire promotes tolerance and have utilized both APS1 mouse models and patient samples to understand the disease mechanisms underlying this condition.
Additionally, our group has focused on understanding how epigenetic mechanisms control the immune response. These mechanisms likely play important roles in Turner Syndrome, Kabuki Syndrome, and other conditions characterized by immune dysregulation.
Finally, we are interested in understanding how dysregulation of the immune system results in Type 1 Diabetes Mellitus, an autoimmune disease in which beta cells in pancreatic islets are destroyed. We are primarily using patient samples to study how the balance of suppressor and effector arms of the immune system become dysregulated to cause autoimmunity against beta cells.
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