Funded projects

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  Ria Knoef

  University of Otago

  Doctoral scholarship - $179,000 - Funding Round: 2025 B

  Exploring the role of chromatin remodelling genes in neurodevelopmental disorders

  This project is investigating a gene associated with a neurodevelopmental disorder called Coffin-Siris syndrome (CSS), where patients have abnormal facial features and a small head size (microcephaly). One gene that is strongly associated with CSS is called ACTL6A, but it can have different genetic variations that are poorly understood, leaving families without clear answers. This research will uncover more about the ACTL6A gene, how different variants alter its function, and identify other similar genes involved in neurodevelopmental disorders, providing much needed answers to affected families.

  Supervised by Associate Professor Louise Bicknell