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Therapeutic development for Fragile X Syndrome

42 months
Approved budget:
Miss Victoria Hawkins
Dr Kimiora Henare
Professor Russell Snell
Dr Jessie Jacobsen
Dr Renee Handley
Associate Professor Maui Hudson
Health issue:
Neurological (CNS)
Proposal type:
Māori Health PhD Scholarship
Lay summary
During my degree, I developed an interest in neurogenetics and subsequently an interest in Māori genetic research. The objective of the proposed project is to test the diabetes drug Metformin as a treatment for another neurodevelopmental disorder Fragile X syndrome (FXS) by creating a sheep model of FXS. The benefit of using sheep is the similarities in body size and brain morphology between sheep and humans, traits not comparable in mice. Treatment of young lambs allows examination of the effect of metformin on a critical stage of brain development. CRISPR-Cas9 gene editing will be used to inactivate the FMR1 gene responsible for FXS in sheep. The sheep will be evaluated for molecular, physiological and behavioral phenotypes to ensure they are a true model of FXS. There is currently no treatment for FXS. Confirming metformin as a viable treatment could be life changing for individuals with FXS and their families.