Projects per year
Personal profile
Biography
Associate Professor Kelly Williams is the Co-Director of Research for Macquarie Medical School at Macquarie University.
A/Prof Williams 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 three fellowships for genetics and genomics research into MND (3-year MNDRA Bill Gole Postdoctoral Fellowship, 4-year NHMRC Early Career Research Fellowship and current 4-year FightMND Bill Guest Mid-Career Research 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
-
IDEAS 23: TDP-43 nuclear depletion in MND - potential driver of neurodegeneration and therapeutic target
Hogan, A., Maurel, C., Rayner, S., Morsch, M., Williams, K., Walker, A. K. & Lisowski, L.
1/07/24 → 30/06/27
Project: Research
-
IDEAS 23: Developing novel gene expression control mechanisms for Amyotrophic Lateral Sclerosis gene therapies
Chung, R., Williams, K. & Lee, A.
1/05/24 → 30/04/27
Project: Research
-
FightMND MCR Fellowship: Comprehensive disease-gene discovery across FALS, SALS & ALS twins
Williams, K., Liquet-Weiland, B. & Blair, I.
1/02/24 → 31/01/28
Project: Research
-
FightMND IMPACT: Delving deep into the ALS genome to reveal somatic mosaicism
Henden, L., Williams, K., Blair, I., Smith, A. & Chan Moi Fat, S. K. K.
1/02/24 → 31/01/26
Project: Research
-
FightMND Discovery: Deciphering the role of TDP43 regulation of cryptic exons in ALS pathogenesis
Chung, R., Williams, K., Lee, A., Morsch, M., Rayner, S. & Grima, N.
1/10/23 → 30/09/26
Project: Research
Research Outputs
-
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 Access2 Citations (Scopus) -
Integration is the foundation for discovery: Macquarie Neurodegenerative Diseases Biobank
Zussa, Z. N., Heads, J. A., Henden, L., Grima, N., D'Silva, S., Poynter, D., Rowe, D. B., Blair, I. P. & Williams, K. L., 2024, (Unpublished). 1 p.Research output: Contribution to conference › Poster
-
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry
Henden, L., Fearnley, L. G., Southwood, D., Smith, A., Rowe, D. B., Kiernan, M. C., Pamphlett, R., Bahlo, M., Blair, I. P. & Williams, K. L., Aug 2024, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 25, 5-6, p. 644-647 4 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile21 Downloads (Pure) -
ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation
Ragagnin, A. M. G., Sundaramoorthy, V., Farzana, F., Gautam, S., Saravanabavan, S., Takalloo, Z., Mehta, P., Do-Ha, D., Parakh, S., Shadfar, S., Hunter, J., Vidal, M., Jagaraj, C. J., Brocardo, M., Konopka, A., Yang, S., Rayner, S. L., Williams, K. L., Blair, I. P., Chung, R. S., & 3 others , 22 Nov 2023, In: Scientific Reports. 13, 1, p. 1-20 20 p., 20467.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)61 Downloads (Pure) -
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)
Activities
- 1 Membership of committee
-
Faculty of Medicine, Health and Human Sciences (Organisational unit)
Mitchell Sarkies (Member), Fiona Bright (Member), Katie De Luca (Member), Emre Ilhan (Member), Amy Nguyen (Member), Elizabeth Austin (Member), Ann Carrigan (Member), Karla Seaman (Member), Chris Bladen (Member), Annika van Hummel (Member), Jannah Baker (Member), Robert Ross (Member), Sian Genoud (Member), Emily Don (Chair), Nitin Chitranshi (Member), Rae-Anne Hardie (Chair), Rimante Ronto (Member), Gemma Sicouri (Member), Kelly Williams (Member), Syeda Somyyah Owais (Member), Anna Guller (Member), Robert Newport (Member), Marina Junqueira Santiago (Member), Philippe Gilchrist (Member), Jessamine Chen (Member), Ella Oar (Member), Alison Hogan (Member), Jodie Wills (Member), Kathleen Yin (Member), Gillian Hulst (Member), Benjamin Brown (Member), Loes Koring (Member), Stephney Whillier (Member), Milena Gandy (Member), Carly Johnco (Member), Lauren McLellan (Member) & Michael Swain (Member)
2020 → …Activity: Membership › Membership of committee