Funded projects

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  Evelyn Jade

  University of Auckland

  Doctoral scholarship - $176,234 - Funding Round: 2025 B

  Mysterious neurodegeneration unmasked: rare and novel GGC repeat expansion diseases in Aotearoa New Zealand

  A rare neurodegenerative condition called neuronal intranuclear inclusion disease (NIID), mostly found in Asia, has recently been diagnosed in Māori whānau in Aotearoa. It is caused by a mutation in a gene called NOTCH2NLC and leads to symptoms such as muscle weakness and dementia. This project aims to establish a research platform for NOTCH2NLC testing in New Zealand to improve diagnosis and understanding of NIID in New Zealand, and to lay the groundwork for future development of treatments.

  Supervised by Associate Professor Emma Scotter, Dr Jessie Jacobsen, Dr Nicole Edwards, Dr Miran Mrkela