Dr Jennifer Fifita

Dr Jennifer Fifita, Post-doctoral Reseach Fellow, Macquarie University.

Jennifer has dedicated her research career to the molecular genetic origins of MND, with over 10 years' experience. After completing her PhD at Macquarie University in 2017 she was awarded the prestigious MND Research Institute of Australia Bill Gole Postdoctoral Research Fellowship.

She has developed a unique multidisciplinary approach to identifying disease-causing gene mutations and understanding MND disease mechanisms. This expertise is broad in scope, including the analysis and interpretation of large genomic datasets for disease gene discovery, functional biology to understand the consequence of mutations, and animal model studies to understand pathological mechanisms. 

Forefront Group:

  • Macquarie University Centre for MND Research Genetics and Genomics Research Group

Affiliate Organisations

Macquarie University Centre for Motor Neuron Disease Research


  • Gene discovery
  • Genetics
  • Bioinformatics

Neurodegeneration of interest:


Specific Skills:

  • Geneticist
  • Molecular biologist


  • Investigating the molecular and pathological basis of amyotrophic lateral sclerosis
  • Investigating the role of large structural variation in MND by analysis of whole-genome sequencing data

Project - Genetic and cell biology studies of motor neuron disease

Research Project Abstract

The motor neurons are nerves that extend from the brain to the spinal cord and muscles and provide the stimulus through which we move, breathe, eat and drink. Motor neuron disease (MND, also known as amyotrophic lateral sclerosis, ALS) is a rapidly progressive disease that causes the death of motor neurons leading to paralysis and death. MND is a devastating illness with appalling prognosis. Median survival is around two years. There is a pressing need to develop more effective diagnostic tools and treatments for MND. The only proven causes of MND are gene mutations that lead to motor neuron death. Current insights have been insufficient to develop effective treatments in humans, despite the promise shown in existing animal models. Identification of the genes that cause or predispose to MND will lead to the unravelling of the underlying molecular mechanisms as a prerequisite to effective disease diagnosis, treatment and prevention. But known MND genes only account for less than 10% of cases.

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).



Disease area: