Projects per year
Personal profile
Biography
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.
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
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Projects
- 1 Finished
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Investigating the genetic and epigenetic basis of amyotrophic lateral sclerosis (Scholarship Top-up Emily McCann)
1/01/16 → 31/12/18
Project: Research
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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., 1 Feb 2021, In: Journal of Medical Genetics. 58, 2, p. 87-95 9 p.Research output: Contribution to journal › Article › peer-review
Open Access13 Citations (Scopus) -
Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis
Chan 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
2 Citations (Scopus) -
Genetic analysis of tryptophan metabolism genes in sporadic amyotrophic lateral sclerosis
Fifita, J. A., Chan Moi Fat, S., McCann, E. P., Williams, K. L., Twine, N. A., Bauer, D. C., Rowe, D. B., Pamphlett, R., Kiernan, M. C., Tan, V. X., Blair, I. P. & Guillemin, G. J., 14 Jun 2021, In: Frontiers in Immunology. 12, p. 1-8 8 p., 701550.Research output: Contribution to journal › Article › peer-review
Open AccessFile85 Downloads (Pure) -
Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis
Hogan, A. L., Grima, N., Fifita, J. A., McCann, E. P., Heng, B., Chan Moi Fat, S., Wu, S., Maharjan, R., Cain, A. K., Henden, L., Rayner, S., Tarr, I., Zhang, K. Y., Zhao, Q., Zhang, ZH., Wright, A., Lee, A., Morsch, M., Yang, S., Williams, K. L. & 1 others, , Dec 2021, In: Neuropathology and Applied Neurobiology. 47, 7, p. 990-1003 14 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
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, , 1 Mar 2020, In: Brain : a journal of neurology. 143, 3, p. 783-799 17 p.Research output: Contribution to journal › Article › peer-review
32 Citations (Scopus)