• 393 Citations
  • 9 h-Index
20152020

Research output per year

If you made any changes in Pure these will be visible here soon.

Personal profile

Biography

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.

Research interests

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.

Teaching

MEDI2200

 

Research student supervision

Sandrine Chan Moi Fat, PhD candidate (Associate supervisor)

Education/Academic qualification

PhD, Macquarie University

MRes, Macquarie University

BMedSc, Macquarie University

Fingerprint Dive into the research topics where Emily McCann is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 26 Similar Profiles

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects

Research Outputs

  • 393 Citations
  • 9 h-Index
  • 15 Article
  • 1 Meeting abstract

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Dobson-Stone, C., Hallupp, M., Shahheydari, H., Ragagnin, A. M. G., Chatterton, Z., Carew-Jones, F., Shepherd, C. E., Stefen, H., Paric, E., Fath, T., Thompson, E. M., Blumbergs, P., Short, C. L., Field, C. D., Panegyres, P. K., Hecker, J., Nicholson, G., Shaw, A. D., Fullerton, J. M., Luty, A. A. & 19 others, Schofield, P. R., Brooks, W. S., Rajan, N., Bennett, M. F., Bahlo, M., Shankaracharya, Landers, J. E., Piguet, O., Hodges, J. R., Halliday, G. M., Topp, S. D., Smith, B. N., Shaw, C. E., McCann, E., Fifita, J. A., Williams, K. L., Atkin, J. D., Blair, I. P. & Kwok, J. B., 1 Mar 2020, In : Brain : a journal of neurology. 143, 3, p. 783-799 17 p.

Research output: Contribution to journalArticle

  • Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

    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., 14 May 2020, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  • Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

    McCann, E. P., Fifita, J. A., Grima, N., Galper, J., Mehta, P., Freckleton, S. E., Zhang, K. Y., Henden, L., Hogan, A. L., Chan Moi Fat, S., Wu, S. S. L., Jagaraj, C. J., Berning, B. A., Williams, K. L., Twine, N. A., Bauer, D., Piguet, O., Hodges, J., Kwok, J. B. J., Halliday, G. M. & 7 others, Kiernan, M. C., Atkin, J., Rowe, D. B., Nicholson, G. A., Walker, A. K., Blair, I. P. & Yang, S., 1 Feb 2020, In : Journal of Neurology, Neurosurgery and Psychiatry. 91, 2, p. 162-171 10 p.

    Research output: Contribution to journalArticle

  • A functional pipeline for the validation of novel amyotrophic lateral sclerosis (ALS) candidate genes

    Yang, S., Wu, S., Fifita, J., McCann, E., Fat, S. C. M., Galper, J., Freckleton, S., Zhang, K. Y. & Blair, I. P., 1 Nov 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, Supplement 1, p. 135 1 p., IVT-01.

    Research output: Contribution to journalMeeting abstract

  • Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression

    Tarr, I. S., McCann, E. P., Benyamin, B., Peters, T. J., Twine, N. A., Zhang, K. Y., Zhao, Q., Zhang, Z-H., Rowe, D. B., Nicholson, G. A., Bauer, D., Clark, S. J., Blair, I. P. & Williams, K. L., 4 Jun 2019, In : Scientific Reports. 9, 1, p. 1-17 17 p., 8254.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 5 Citations (Scopus)
    15 Downloads (Pure)