Funded projects

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  Dr Sankalita Ray Das

  University of Otago

  First fellowship - $254,921 - Funding Round: 2025 B

  Functional characterisation of spliceosomal gene variants in brain disorders

  Diagnosing rare genetic disorders is difficult when there is not enough evidence to confirm the link between a gene change and a disorder. Delays in diagnosis can result in delays in support and treatment. This fellowship is investigating the cause of neurodevelopmental disorders in families where mutations have been found in the spliceosome, which is part of our cells essential for producing proteins. If this project can show that mutations in the spliceosome are responsible for the disorders, it will not only provide families with a diagnosis, but also establish a platform for genetic screening in patients affected by these rare conditions.