Projects per year
Personal profile
Biography
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 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.
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
Award Date: 23 May 2017
B MedSci (hons), Western Sydney University
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Collaborations and top research areas from the last five years
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Investigating the molecular and pathological basis of Amyotrophic Lateral Sclerosis (ALS)
Fifita, J., Blair, I. & MQRES, M.
1/05/17 → …
Project: Research
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Investigating the role of large structural variation in MND by analysis of whole-genome sequencing data
Fifita, J., Williams, K. & Blair, I.
1/06/19 → 31/05/20
Project: Research
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Establishing a centralised biobank for biomedical research
Rizos, H., Kefford, R., Atkin, J., Blair, I., Guillemin, G., Rowe, D., Parakh, S., Sultana, J., Fifita, J. & Tan, V.
1/01/15 → 31/12/15
Project: Research
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Examining the role of novel molecules causing motor neuron disease
4/03/13 → 4/03/16
Project: Research
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Characterising the genetic landscape of amyotrophic lateral sclerosis: a catalogue and assessment of over 1,000 published genetic variants
McCann, E. P., Grima, N., Fifita, J. A., Chan Moi Fat, S., Lehnert, K., Henden, L., Blair, I. P. & Williams, K. L., 7 Nov 2023, In: Journal of Neuromuscular Diseases. 10, 6, p. 1127-1141 15 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile3 Citations (Scopus)61 Downloads (Pure) -
Clinical testing panels for ALS: global distribution, consistency, and challenges
Dilliott, A. A., Al Nasser, A., Elnagheeb, M., Fifita, J., Henden, L., Keseler, I. M., Lenz, S., Marriott, H., Mccann, E., Mesaros, M., Opie-Martin, S., Owens, E., Palus, B., Ross, J., Wang, Z., White, H., Al-Chalabi, A., Andersen, P. M., Benatar, M., Blair, I., & 18 others , Aug 2023, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 24, 5-6, p. 420-435 16 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile7 Citations (Scopus)69 Downloads (Pure) -
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord
Trist, B. G., Genoud, S., Roudeau, S., Rookyard, A., Abdeen, A., Cottam, V., Hare, D. J., White, M., Altvater, J., Fifita, J. A., Hogan, A., Grima, N., Blair, I. P., Kysenius, K., Crouch, P. J., Carmona, A., Rufin, Y., Claverol, S., Van Malderen, S., Falkenberg, G., & 10 others , 14 Sept 2022, In: Brain. 145, 9, p. 3108-3130 23 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile38 Citations (Scopus)87 Downloads (Pure) -
Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration
Trist, B. G., Fifita, J. A., Hogan, A., Grima, N., Smith, B., Troakes, C., Vance, C., Shaw, C. E., Al-Sarraj, S., Blair, I. P. & Double, K. L., 25 Aug 2022, In: Acta Neuropathologica Communications. 10, 1, p. 1-17 17 p., 122.Research output: Contribution to journal › Article › peer-review
Open AccessFile16 Citations (Scopus)36 Downloads (Pure) -
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., 1 Feb 2021, In: Journal of Medical Genetics. 58, 2, p. 87-95 9 p.Research output: Contribution to journal › Article › peer-review
Open Access52 Citations (Scopus)