Emily McCann

Dr Emily McCann is an Early Career Postdoctoral Research Fellow in the Genetics and Genomics Team at Macquarie University's Centre for Motor Neuron Disease (MND) Research. She holds a PhD from Macquarie University and has expertise in bioinformatics and wet lab validation techniques. Her research focuses on identifying genetic mutations and risk variants in MND/ALS through whole genome sequencing and collaborative efforts, with direct implications for diagnostic advancements.

Education:

• Bachelor of Medical Science (2012)
• Masters of Research (2014)
• PhD in Genetics (2019)

Research Interests: Dr McCann's work centers on unraveling the genetic basis of MND/ALS. This includes:

• Identifying causal mutations in novel genes via family analysis
• Studying phenotype-modifying variants in disease-discordant twins
• Assessing risk variants in large patient cohorts using bioinformatics

Her methods rely heavily on whole exome and genome sequencing analysis.

Key Contributions: Recent work includes global ALS testing panel analysis, short tandem repeat expansions in neurodegenerative diseases, and the genetic epidemiology of MND in New Zealand. These studies highlight her focus on translational genetics.

Awards:

• MND Research Institute of Australia top-up scholarship (PhD support)

Advising/Grants: Associate supervisor for Sandrine Chan Moi Fat (PhD candidate). Co-investigator on projects like the MNDRA Innovator grant (2023–2024) and the 2016–2018 ALS genetic research grant.

Labs/Teams: Part of the multidisciplinary Genetics and Genomics Team within Macquarie's MND Research Centre, collaborating internationally on gene discovery and therapy targets.