Projects per year
Personal profile
Biography
Associate Professor Kelly Williams leads the Advanced Gene Discovery Team and is Head of Genomics & Bioinformatics within the multidisciplinary Centre for Motor Neuron Disease (MND) Research at Macquarie University. Since completion of her PhD in 2013, she have received four fellowships for genetics and genomics research into MND (MNDRA Bill Gole Postdoctoral Fellowship, NHMRC Early Career Research Fellowship, FightMND Bill Guest Mid-Career Research Fellowship and NHMRC EL2 Investigator Fellowship). As one of Australia’s leading early career researchers in MND, she was recruited as a founding member of the Macquarie University Centre for MND Research
The majority of her academic career has focused on determining the genetic basis of motor neuron disease. She has played a central role in critical breakthroughs in MND through the identification of causal mutations in several genes. These seminal discoveries have opened new chapters in MND and frontotemporal dementia (FTD) research and have led to key insights into the pathology of these diseases. Her research has directly translated into clinical practice with these disease genes now added to diagnostic tests worldwide, including preimplantation genetic diagnosis (PGD) and pre-symptomatic testing.
Research interests
A/Prof Williams’ Genomics & Bioinformatics team’s current MND research themes are uncovering ancestral cryptic relatedness in disease, identifying disease-modifying factors underlying disease variability, and bioinformatic and biostatistical analysis of omics datasets (including RNA-seq transcriptome, SNP microarray, whole genome/exome sequencing datasets and DNA methylation microarrays).
Teaching
MEDI2201
LaTeX and Overleaf training course for HDR students and supervisors
Education/Academic qualification
PhD, University of Sydney
Award Date: 28 May 2013
BSc (Honours I), Macquarie University
Award Date: 19 Sept 2007
External positions
Visiting Scholar, University of Utah
Aug 2024 → Feb 2025
Visiting Research Fellow, The Garvan Institute of Medical Research
Mar 2016 → Jun 2016
Visiting Research Fellow, Centre for Neurogenetics & Statistical Genomics, Queensland Brain Institute, University of Queensland
May 2015 → Mar 2016
Research Residency, Centre hospitalier de l'Université de Montréal, Quebec
May 2010 → Aug 2010
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- 12 Similar Profiles
Collaborations and top research areas from the last five years
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Deciphering the genetic landscape of motor neuron disease towards improved outcomes for patients
Williams, K. (Primary Chief Investigator)
1/01/26 → 31/12/30
Project: Research
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IDEAS 23: TDP-43 nuclear depletion in MND - potential driver of neurodegeneration and therapeutic target
Hogan, A. (Primary Chief Investigator), Maurel, C. (Chief Investigator), Rayner, S. (Chief Investigator), Morsch, M. (Associate Investigator), Williams, K. (Associate Investigator), Walker, A. K. (Associate Investigator) & Lisowski, L. (Associate Investigator)
1/07/24 → 30/06/27
Project: Research
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A Pilot MND Surveillance Unit in New South Wales
Rowe, D. (Primary Chief Investigator), Shrestha, R. (Associate Investigator), Gan, R. (Research Coordinator), Bayeh, P. (Research Coordinator), Williams, K. (Associate Investigator), Henden, L. (Associate Investigator), Fell, R. (Associate Investigator), Heng, B. (Associate Investigator), Heads, J. (Associate Investigator), Lee, C. (Project Leader), Stevenson, M. (Associate Investigator), Jude, M. (Associate Investigator) & Wright, A. (Associate Investigator)
1/07/24 → 30/06/27
Project: Research
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IDEAS 23: Developing novel gene expression control mechanisms for Amyotrophic Lateral Sclerosis gene therapies
Chung, R. (Primary Chief Investigator), Williams, K. (Associate Investigator) & Lee, A. (Associate Investigator)
1/05/24 → 30/04/27
Project: Research
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FightMND MCR Fellowship: Comprehensive disease-gene discovery across FALS, SALS & ALS twins
Williams, K. (Primary Chief Investigator), Liquet-Weiland, B. (Chief Investigator) & Blair, I. (Other)
1/02/24 → 31/01/28
Project: Research
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Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis
Project MinE ALS Sequencing Consortium, 15 Sept 2026, (E-pub ahead of print) In: Journal of Human Genetics. 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Genetic characterisation of ATXN2 in Australian amyotrophic lateral sclerosis
Wu, S. S. L., McCann, E. P., Chan Moi Fat, S., Grima, N., Henden, L., Fearnley, L. G., Chiu, P., Williams, K. L., Rowe, D. B., Nicholson, G. A., Kiernan, M. C., Blair, I. P., Yang, S. & Fifita, J. A., Mar 2026, In: Brain Disorders. 21, p. 1-9 9 p., 100301.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Link opens in a new tab Citation (Scopus)8 Downloads (Pure) -
Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis
Hop, P. J., Kooyman, M., Kenna, B. J., Zwamborn, R. A. J., van Eijk, K. R., Wang, Y., van Dijk, C. H., Bekema, E., van Rheenen, W., Beele, P., van Vugt, J. J. F. A., Project MinE ALS Sequencing Consortium, NYGC ALS Consortium, FALS sequencing Consortium, GTAC Consortium, Khleifat, A. A., Iacoangeli, A., Cooper-Knock, J., Smith, B. N. & Topp, S. & 69 others, , Apr 2026, In: Nature Genetics. 58, 4, p. 717-725 31 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile7 Link opens in a new tab Citations (Scopus)3 Downloads (Pure) -
Motor neuron disease in rural Australia: a population-based observational study of epidemiology, clinical characteristics and regional variation
Wright, A. L., Zussa, Z. N., Fat, S. C. M., Lee, C. M. Y., Christie, L., Keniry, C., Hawke, S., Rowe, D. B., Williams, K. L. & Henden, L., 10 Sept 2026, (Submitted) 24 p. (medRxiv).Research output: Working paper › Preprint
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Motor neuron disease mortality trends in Australia from 1986 to 2023: a population-based study
Lee, C. M. Y., Shrestha, R. N., Gold, J., Stevenson, M., Williams, K. L., Henden, L., Chan Moi Fat, S. K. K., Zussa, Z., Wright, A., Jude, M., Laidlaw, M. A. S., Fokkink, W. J. R. & Rowe, D. B., Mar 2026, In: The Medical Journal of Australia. 224, 3, p. 1-9 9 p., e70168.Research output: Contribution to journal › Article › peer-review
Open AccessFile64 Downloads (Pure)
Activities
- 1 Membership of committee
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Faculty of Medicine, Health and Human Sciences (Organisational unit)
Sarkies, M. (Member), Bright, F. (Member), De Luca, K. (Member), Ilhan, E. (Member), Nguyen, A. (Member), Austin, E. (Member), Carrigan, A. (Member), Seaman, K. (Member), Bladen, C. (Member), van Hummel, A. (Member), Baker, J. (Member), Ross, R. (Member), Genoud, S. (Member), Don, E. (Chair), Chitranshi, N. (Member), Hardie, R.-A. (Chair), Ronto, R. (Member), Sicouri, G. (Member), Williams, K. (Member), Owais, S. S. (Member), Guller, A. (Member), Newport, R. (Member), Junqueira Santiago, M. (Member), Gilchrist, P. (Member), Chen, J. (Member), Oar, E. (Member), Hogan, A. (Member), Wills, J. (Member), Yin, K. (Member), Hulst, G. (Member), Brown, B. (Member), Koring, L. (Member), Whillier, S. (Member), Gandy, M. (Member), Johnco, C. (Member), McLellan, L. (Member) & Swain, M. (Member)
2020 → …Activity: Membership › Membership of committee