Neurological Foundation W & B Miller Postgraduate Scholarship

$104,499

Nicole Edwards
Department of Pharmacology and Clinical Pharmacology, University of Auckland

Modelling the neurodevelopmental disorder Fragile X Syndrome by Direct Reprogramming 

Developing an authentic research model of Fragile X Syndrome using an innovative New Zealand-developed technology

Fragile X Syndrome (FXS) is the most common genetic cause of intellectual disability and autism, and has been linked to impaired neuronal development and function. To overcome the lack of access to live developing human neurons, Ms Edwards’ supervisor, Associate Professor Bronwen Connor, has developed a strategy to generate immature brain cells directly from adult human skin through a technique called direct reprogramming. Ms Edwards’ postgraduate work will use this technique to generate immature brain cells directly from FXS patients to investigate changes in the expression of genes and proteins important for neuronal development and function. This project will establish a human model of FXS and progress the understanding of this disorder.

 

Ms Edwards’ study will build on the large body of cell-reprogramming research work that Associate Professor Bronwen Connor’s laboratory is internationally well-regarded for.