Many rare neurological and neurodevelopmental disorders now have a genetic diagnosis, but the underlying mechanisms remain unclear and therapeutic options are limited. In this theme, we provide integrated in vivo and iPSC-based platforms to functionally characterize novel variants and candidate disease genes, with a particular focus on the nervous system.
The Drosophila Center for Human Diseases and Drug Discovery (DHD) hosts Thailand's first dedicated facility for generating custom transgenic fly models of human variants, enabling rapid assessment of behavioral, lifespan and neuronal phenotypes and modifier screens. In parallel, the Functional Genomics Unit (FGU) at CMUTEAM develops patient-derived iPSC models, allowing us to study neuronal differentiation, network activity and stress responses in human cells. Together with national and international clinicians and geneticists, we are building models for AU-rich repeat expansion disorders (e.g. SCA37, BAFME), NALCN-associated channelopathies, POMT1-linked movement disorders, and KBTBD13-associated neurodevelopmental disease with seizures. This theme is deliberately collaboration-driven: we invite partners to bring challenging variants, and we provide the mechanistic and functional genomics toolkit to move from genotype to mechanism.
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