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Personal profile


Dr Jenn Fifita is a post-doctoral researcher in the Genetics and Genomics Team at the Centre for motor neuron disease (MND) Research. Jenn has dedicated her research career to the molecualr 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. 


Research student supervision

I have been mentoring students (PhD, MRes 1 and 2, B. Clinc Sci, summer and PACE students) since 2014, and am passionate about bringing the best out of all my students. I aim to keep my students organised to reduce stress, provide feedback and advice on ECR skills, provide career and academic progression advice at all stages, and generally assist each student where uniquely required.

Research interests

Motor Neuron disease, genetics, genomics, bioinformatics, cell biology

Education/Academic qualification

PhD, Macquarie University

B MedSci (hons), Western Sydney University

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Research Outputs

  • 1263 Citations
  • 14 h-Index
  • 30 Article
  • 2 Meeting abstract
  • 1 Letter
  • 1 Review article

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Dobson-Stone, C., Hallupp, M., Shahheydari, H., Ragagnin, A. M. G., Chatterton, Z., Carew-Jones, F., Shepherd, C. E., Stefen, H., Paric, E., Fath, T., Thompson, E. M., Blumbergs, P., Short, C. L., Field, C. D., Panegyres, P. K., Hecker, J., Nicholson, G., Shaw, A. D., Fullerton, J. M., Luty, A. A. & 19 others, Schofield, P. R., Brooks, W. S., Rajan, N., Bennett, M. F., Bahlo, M., Shankaracharya, Landers, J. E., Piguet, O., Hodges, J. R., Halliday, G. M., Topp, S. D., Smith, B. N., Shaw, C. E., McCann, E., Fifita, J. A., Williams, K. L., Atkin, J. D., Blair, I. P. & Kwok, J. B., 1 Mar 2020, In : Brain : a journal of neurology. 143, 3, p. 783-799 17 p.

Research output: Contribution to journalArticle

  • Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

    McCann, E. P., Henden, L., Fifita, J. A., Zhang, K. Y., Grima, N., Bauer, D. C., Fat, S. C. M., Twine, N. A., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Williams, K. L. & Blair, I. P., 14 May 2020, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  • Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

    McCann, E. P., Fifita, J. A., Grima, N., Galper, J., Mehta, P., Freckleton, S. E., Zhang, K. Y., Henden, L., Hogan, A. L., Chan Moi Fat, S., Wu, S. S. L., Jagaraj, C. J., Berning, B. A., Williams, K. L., Twine, N. A., Bauer, D., Piguet, O., Hodges, J., Kwok, J. B. J., Halliday, G. M. & 7 others, Kiernan, M. C., Atkin, J., Rowe, D. B., Nicholson, G. A., Walker, A. K., Blair, I. P. & Yang, S., 1 Feb 2020, In : Journal of Neurology, Neurosurgery and Psychiatry. 91, 2, p. 162-171 10 p.

    Research output: Contribution to journalArticle

  • A functional pipeline for the validation of novel amyotrophic lateral sclerosis (ALS) candidate genes

    Yang, S., Wu, S., Fifita, J., McCann, E., Fat, S. C. M., Galper, J., Freckleton, S., Zhang, K. Y. & Blair, I. P., 1 Nov 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, Supplement 1, p. 135 1 p., IVT-01.

    Research output: Contribution to journalMeeting abstract

  • The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling

    Crook, A., McEwen, A., Fifita, J. A., Zhang, K., Kwok, J. B., Halliday, G., Blair, I. P. & Rowe, D. B., Jul 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, 5-6, p. 310-316 7 p.

    Research output: Contribution to journalReview article

  • 4 Citations (Scopus)