Dr Kelly Williams, NHMRC Early Career Reseach Fellow, Macquarie University.
Kelly is an NHMRC Early Career Research Fellow and Group Leader of the Genomics & Bioinformatics within the multidisciplinary Centre MND Research at Macquarie University. The majority of her academic career has focused on determining the genetic basis of MND. 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 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.
Kelly’s Genomics & Bioinformatics team’s current MND research themes are uncovering ancestral cryptic relatedness, 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).