Co-Investigator(s): Roberta La Piana (McGill University), Thomas Durcan (McGill University)
Collaborator(s): Martin Sauvageau (IRCM)
ALSP (Adult Leukoencephalopathy with axonal Spheroids and Pigmented glia) is a genetic disorder caused by mutations in a gene important for immune cell function, especially important for immune cells in the brain, called microglia. When this gene is not working properly patients have motor and cognitive dysfunction leading to death within 6-7 years of diagnosis. It is clear that microglial activation in ALSP induces increased inflammation leading to brain tissue damage, but the therapeutic options for patients remain scarce and are primarily focused on the management of symptoms. With this proposal we aim to understand how state-of-the art RNA therapies can be optimized to reverse cytotoxicity of human microglia in ALSP patients and provide a novel and disease-modifying treatment strategy.