Funded projects

• 

  Kyrah Thumbadoo

  University of Auckland

  Dawn fellowship - $242,205 - Funding Round: 2024 B

  Ubiquilin 2 at the X-roads: Modelling X-linked motor neuron disease pathology using patient-derived motor neurons

  Motor neuron disease (MND) and frontotemporal dementia (FTD) are fatal conditions that cause muscle paralysis, and cognitive changes, respectively. A family in New Zealand and Australia have a mutation in the UBQLN2 gene, located on the X-chromosome, linking these diseases. Men in this family get sick earlier than women due to having only one X-chromosome, lacking a backup healthy UBQLN2 copy. This research will use stem cells from affected family members to grow motor neurons in the lab to help us understand how UBQLN2 causes MND/FTD, how it affects men and women differently, and its potential as a drug target.