Dr Emily McCann is an Early Career Postdoctoal Reserach Fellow in the Genetics and Genomics Team within the multidisciplinary Centre for Motor Neuron Disease (MND) Research at Macquarie University. Following the completion of her undergraduate studies in 2012 with a Bachelor of Medical Science, she embarked on her research career dedicated to unravelling the genetic basis of MND. This began with a Masters of Research in 2014, and after a study break as a Research Assistant, a PhD in 2019, which was supported by the prestigious MND Research Institute of Australia top-up scholarship.

During her PhD Dr McCann developed bioinformatics expertise in the analysis of next-generation sequencing datasets for gene discovery, as well as extensive experience in wet lab validation techniques. Throughout her career she has made significant contributions to the identification of both MND causal mutations and risk variants in several genes through her own research endeavours as well involvement in domestic and international collaborative efforts. These discoveries have direct implications for families affected by MND through the expansion of diagnostic regimes.

Dr McCann's research is focused on improving the understanding of the genetic basis of MND. This includes identifying MND causal mutations in novel genes through family analysis, phenotye modifying variants between disease discordant twin pairs, as well as MND risk variants in large patient cohorts. These endeavours are primarily faciliated by the bioinformatic analysis of whole exome and whole genome sequencing datasets.

MEDI2200

Sandrine Chan Moi Fat, PhD candidate (Associate supervisor)