Projects per year
Dr Emily McCann is an Early Career Postdoctoral 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.
Research student supervision
Sandrine Chan Moi Fat, PhD candidate (Associate supervisor)
PhD, Macquarie University
MRes, Macquarie University
BMedSc, Macquarie University
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Dive into details
Select a country/territory to view shared publications and projects
- 1 Finished
Characterising the genetic landscape of amyotrophic lateral sclerosis: a catalogue and assessment of over 1,000 published genetic variantsMcCann, 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-reviewOpen AccessFile4 Downloads (Pure)
Fifita, J., Henden, L., Keseler, I. M., Lenz, S., Marriott, H., Mccann, E., Mesaros, M., Opie-Martin, S., Owens, E., Palus, B., Ross, J., Wang, Z., White, H., Al-Chalabi, A., Andersen, P. M., Benatar, M., Blair, I., & 18 others, Aug 2023, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 24, 5-6, p. 420-435 16 p.
Research output: Contribution to journal › Review article › peer-reviewOpen AccessFile
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementiaHenden, L., Fearnley, L. G., Grima, N., McCann, E. P., Dobson-Stone, C., Fitzpatrick, L., Friend, K., Hobson, L., Chan Moi Fat, S., Rowe, D. B., D'Silva, S., Kwok, J. B., Halliday, G. M., Kiernan, M. C., Mazumder, S., Timmins, H. C., Zoing, M., Pamphlett, R., Adams, L., Bahlo, M., & 2 others, 5 May 2023, In: Science Advances. 9, 18, p. 1-15 16 p., eade2044.
Research output: Contribution to journal › Article › peer-reviewOpen AccessFile
McCann, E. P., Henden, L., Fifita, J. A., Zhang, K. Y., Grima, N., Bauer, D. C., Fat, S. C. M., Twine, N. A., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Williams, K. L. & Blair, I. P., 1 Feb 2021, In: Journal of Medical Genetics. 58, 2, p. 87-95 9 p.
Research output: Contribution to journal › Article › peer-reviewOpen Access
Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosisChan Moi Fat, S., McCann, E. P., Williams, K. L., Henden, L., Twine, N. A., Bauer, D. C., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Nicholson, G. A., Fifita, J. A. & Blair, I. P., May 2021, In: Neurobiology of Aging. 101, p. 297.e11-297.e13 3 p.
Research output: Contribution to journal › Article › peer-review