Postdoctoral Research fellow: RNA metabolism and astrocyte dysfunction in myotonic dystrophy – Dr Gomes Pereira

Research topic: RNA metabolism and astrocyte dysfunction in myotonic dystrophy.

Perturbations of RNA homeostasis are implicated in the aetiology of several pathologies, for which myotonic dystrophy type 1 (DM1) is a paradigmatic example. DM1 is an inherited neuromuscular disease that affects multiple tissues and cell types. The neurological manifestations are exceptionally debilitating, however important gaps still exist in our understanding of brain disease. Based on our recent findings, we believe that DM1 has a major impact on astrocyte morphology, adhesion, and RNA metabolism, with subsequent consequences on brain function. In addition, we propose that MBNL proteins play a role in astrocyte dysfunction. This project will explore the causes and effects of glial dysfunction in DM1, using unique mouse models, patient-derived human induced pluripotent stem cells (hiPSC) and brain organoids. Transcriptomics, bioinformatics and high-resolution imaging will elucidate the mechanisms behind DM1 brain disease, as well as fundamental aspects of RNA biology in astrocytes.

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