Genetics and Genomics

Our research team is part of the Macquarie University Centre for MND Research. We work collaboratively with Forefront Research Group. Our research aims to use cutting edge genetics, genomics and bioinformatics to identify gene mutations that cause MND. We further investigate the effects of those mutations using cell biology techniques, such as immunohistochemistry/immunocytochemistry, transfection, confocal microscopy and flow cytometry. We have found mutations in several new disease genes among MND patients (published in Science and Nature Neuroscience).

  • Genetic and genomic studies of motor neuron disease - Dr Kelly Williams
  • Genetic and cell biology studies of motor neuron disease - Dr Jennifer Fifita
  • Functional validation of aberrant repeat expansion in ATXN2 and other novel MND candidate genes in an Australian MND family – Dr Shu Yang
  • The investigation of motor neuron disease candidate gene variants – Sandrine Chan Moi Fat - PhD
  • Elucidating the cellular mechanisms associated with novel and known ALS genes – Sharlynn Wu - PhD
  • Novel genomic and transcriptomic features of sporadic MND – Natalie Grima - PhD

Meet our Research Group

Professor Ian Blair

Professor of Neurobiology, Macquarie University

  • Genetics
  • Genomics
  • Bioinformatics

Dr Jenn Fifita

Postdoctoral research fellow, Macquarie University

  • Gene Discovery
  • Genetics
  • Bioinformatics

Dr Kelly Williams

NHMRC Early Career Research Fellow, Macquarie University

  • Genomics
  • Transcriptomics
  • Bioinformatics

Dr Shu Yang

Postdoctoral research fellow, Macquarie University

  • Neuropathology
  • Cell Biology
  • MND gene discovery

Dr Lyndal Henden

Postdoctoral research fellow, Macquarie University

  • Bioinformatics
  • Statistics
  • Genomics

Dr Emily McCann

Postdoctoral research fellow, Macquarie University

  • Genetics
  • Genomics
  • Next-generation sequencing

Sandrine Chan Moi Fat

PhD Student

The investigation of motor neuron disease candidate gene variants

Supervisors: Prof. Ian Blair, Dr Jennifer Fifita, Dr Emily McCann, Dr Shu Yang

Years:

Sharlynn Wu

PhD Student

Elucidating the cellular mechanisms associated with novel and known ALS genes

Supervisors: Dr Shu Yang (Principal), Dr Jennifer Fifita, Dr Alison Hogan, Prof. Ian Blair

Years:

Natalie Grima

PhD Student

Novel genomic and transcriptomic features of sporadic MND

Supervisors: Prof. Ian Blair, Dr. Kelly Williams

Years: 2021-24