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Personal profile


Sandrine is a phD candidate with the Genetics and Genomics Team in the Centre of Motor Neuron Disease (MND) Research at Macquarie University. Her supervisors are Prof Ian Blair, Dr Jennifer Fifita, Dr Shu Yang and Dr Emily McCann. She was awarded the competitive International Macquarie University Research Excellence Scholarship to support her phD studies.

In 2016, Sandrine successfully completed a Bachelor of Commerce (Economics) and Psychology. In 2017, she completed a Master of Research in Biomedical Sciences, with the Genetics and Genomics Team. Her MRes thesis was entitled “Investigating Amyotrophic Lateral Sclerosis (ALS) Candidate Genes”, and consists of bioinformatics and in vitro analyses to prioritise and investigate candidate genes for ALS. Finding novel ALS genes can improve our understanding of disease biology and contribute to the development of diagnostics and treatments for this devastating disease.

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Research Outputs

  • 2 Article
  • 1 Commissioned report
  • 1 Meeting abstract

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

  • mHealth technologies for chronic disease prevention and management

    Laranjo, L., Lau, A., Oldenburg, B., Gabarron, E., O'Neill, A., Chan, S. & Coiera, E., 2015, Australia: Sax Institute. 96 p.

    Research output: Book/ReportCommissioned report