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
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
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MND 24: Investigating the molecular origin of a “C9orf72-like” patient subgroup of sporadic ALS
Grima, N. (Primary Chief Investigator), Henden, L. (Chief Investigator) & Williams, K. (Chief Investigator)
1/01/25 → 31/12/25
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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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 IMPACT: Developing novel gene expression control mechanisms for ALS gene therapies
Chung, R. (Primary Chief Investigator), Williams, K. (Chief Investigator), Grima, N. (Chief Investigator) & Chapman, T. (Chief Investigator)
1/03/24 → 1/03/26
Project: Research
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FightMND IMPACT: Delving deep into the ALS genome to reveal somatic mosaicism
Henden, L. (Primary Chief Investigator), Williams, K. (Chief Investigator), Blair, I. (Associate Investigator), Smith, A. (Associate Investigator) & Chan Moi Fat, S. K. K. (Other)
1/02/24 → 31/01/26
Project: Research
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A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia
Thumbadoo, K. M., Nementzik, L. R., Swanson, M. E. V., Dieriks, B. V., Dragunow, M., Faull, R. L. M., Curtis, M. A., Blair, I. P., Nicholson, G. A., Williams, K. L. & Scotter, E. L., Nov 2025, In: Neurobiology of Disease. 216, p. 1-13 13 p., 107127.Research output: Contribution to journal › Article › peer-review
Open AccessFile2 Downloads (Pure) -
Multi-region brain transcriptomic analysis of amyotrophic lateral sclerosis reveals widespread RNA alterations and substantial cerebellum involvement
Grima, N., Smith, A. N., Shepherd, C. E., Henden, L., Winn, T., Carroll, L., Rowe, D. B., Kiernan, M. C., Blair, I. P. & Williams, K. L., 25 Apr 2025, In: Molecular Neurodegeneration. 20, 1, p. 1-19 19 p., 40.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)26 Downloads (Pure) -
The genetics of motor neuron disease in New Zealand
Mrkela, M., Rodrigues, M., Naidoo, S., Devaux, J. B. L., Kirk, S. E., Vinnakota, C., Buchanan, C. M., Mulroy, D., Fraser, H., Jacobsen, J. C., Wyatt, H., Drake, K., Parker, E., Potter, H., Henden, L., McCann, E. P., Williams, K. L., Henders, A. K., Roxburgh, R. H. & Scotter, E. L., 15 Jul 2025, In: Journal of the Neurological Sciences. 474, p. 1-13 13 p., 123472.Research output: Contribution to journal › Article › peer-review
Open AccessFile2 Downloads (Pure) -
Gene Mapping
Williams, K. L., 30 Nov 2024, (E-pub ahead of print) Encyclopedia of Bioinformatics and Computational Biology. Ranganathan, S., Cannataro, M. & Khan, M. A. (eds.). 2nd ed. Elsevier, 11 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
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Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia
Thumbadoo, K. M., Dieriks, B. V., Murray, H. C., Swanson, M. E. V., Yoo, J. H., Mehrabi, N. F., Turner, C., Dragunow, M., Faull, R. L. M., Curtis, M. A., Siddique, T., Shaw, C. E., Newell, K. L., Henden, L., Williams, K. L., Nicholson, G. A. & Scotter, E. L., 3 Oct 2024, In: Brain. 147, 10, p. 3547-3561 15 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile4 Citations (Scopus)14 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