Kelly L Williams GENEMAPPERS 2024

Kelly L Williams

Associate Professor Kelly Williams (PhD 2013) is a leading mid-career researcher in amyotrophic lateral sclerosis genomics in Australia (ALS, also known as motor neuron disease, MND). She is Head of Genomics & Bioinformatics within the multidisciplinary Centre for ALS/MND Research at Macquarie University, Sydney Australia, currently leading 3 postdoctoral fellows, 1 clinical bioinformatician, 1 research assistant, and 1 PhD student. For 16 years, she has focused on determining the genetic basis of ALS. She has played a central role in critical breakthroughs in ALS through the identification of causal mutations in several genes. These seminal discoveries opened new chapters in ALS and frontotemporal dementia (FTD) research and have directly led to key insights into the pathology of these diseases. Her research has directly led to an effective therapeutic treatment for Arts Syndrome and translated into improving clinical practice for ALS. Disease genes are now added to diagnostic tests worldwide, including preimplantation genetic diagnosis (PGD) and pre-symptomatic testing. A/Prof Williams’ Genomics & Bioinformatics team’s current ALS 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). A/Prof Williams collaborates extensively with national and international researchers in ALS genomics and is part of three global next-generation sequencing consortia (FALS Sequencing Consortium, Project MinE and Sporadic ALS Australia (SALSA)). Her ALS genomics research program has established multidisciplinary collaborations including geneticists, clinicians, statisticians, statistical geneticists, machine learning experts, bioinformaticians, and genetic counsellors.