Topic: P2RY12

Mutations in Adenosine deaminase acting on RNA (ADAR1) give rise to Aicardi-Goutières syndrome 6 (AGS6) a severe autoimmune disease characterized by inflammatory encephalopathy that presents within the first year of life. Some of the signs of AGS6 are microcephaly, calcifications in basal ganglia and other brain regions, abnormalities in the white matter tracts, excess lymphocytes in the cerebrospinal fluid (CSF) and increased interferon-alpha activation. Adar∆2-13 mutant mice lacking the Adar1 protein have aberrant high-level interferon expression and are embryonically lethal (E12.5). Adar∆2-

Microglia, tissue-resident macrophages of the brain, are strongly involved in the maintenance of brain homeostasis. Genome-wide association studies have established their critical role in the pathogenesis of Alzheimer’s disease (AD) but their precise contribution is not yet clarified. Most AD preclinical studies are performed in transgenic mouse models. However murine and human microglia have different transcriptomic profiles with aging. Interestingly, induced pluripotent stem cells (iPSCs) – derived models enable studying human-like cells. Our project aims to generate human iPSCs-derived micr