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Health Science staff profile

 

Dr Louise Bicknell

PositionSenior Lecturer
DepartmentDepartment of Biochemistry
QualificationsBSc(Hons) PhD
Research summaryLouise is a Rutherford Discovery Fellow who focuses on how genetics influences human health.
TeachingGene 4th year
Memberships
  • Convenor, O-Zone Research Group
  • Member, OMSRS Executive Committee
  • Early Career Representative, University of Otago Research Committee
  • Member, Genetics Otago Advisory Board
  • Regional Representative, Human Genetics Society of Australasia
  • Member, Inaugural Science Policy Exchange

Research

She completed her PhD with Professor Stephen Robertson, University of Otago in 2007, before moving to Edinburgh to undertake post-doctoral studies with Professor Andrew Jackson, Institute of Genetics and Molecular Medicine, University of Edinburgh.

Her post-doctoral studies focused on genetic disorders of growth; delineating the genetic causes and unravelling the biology that controls human growth. In the latter stages of her post-doctoral studies she was supported by a Medical Research Scotland fellowship and a Newlife Foundation for Disabled Children grant.

In September 2015 she returned to the University of Otago to commence her Rutherford Discovery Fellowship. Her research focuses on understanding how genetic variation present in our genomes can cause or influence genetic conditions.

Her lab is supported by the Marsden Fund and University of Otago.

Publications

Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., … Bicknell, L. S. (2021). MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. European Journal of Human Genetics. Advance online publication. doi: 10.1038/s41431-021-00839-4

Knapp, K. M., Sullivan, R., Murray, J., Gimenez, G., Arn, P., D'Souza, P., … Bicknell, L. S. (2020). Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Journal of Medical Genetics, 57, 195-202. doi: 10.1136/jmedgenet-2019-106396

Knapp, K. M., Murray, J., Temple, I. K., & Bicknell, L. S. (2020). Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. American Journal of Medical Genetics Part A. Advance online publication. doi: 10.1002/ajmg.a.62016

Reynolds, J. J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., … Stuart, G. S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nature Genetics, 49(4), 537-549. doi: 10.1038/ng.3790

Fenwick, A. L., Kliszczak, M., Cooper, F., Murray, J., Sanchez-Pulido, L., Twigg, S. R. F., … Bicknell, L. S. (2016). Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. American Journal of Human Genetics, 99(1), 125-138. doi: 10.1016/j.ajhg.2016.05.019

Journal - Research Article

Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., … Bicknell, L. S. (2021). MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. European Journal of Human Genetics. Advance online publication. doi: 10.1038/s41431-021-00839-4

Knapp, K. M., Sullivan, R., Murray, J., Gimenez, G., Arn, P., D'Souza, P., … Bicknell, L. S. (2020). Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Journal of Medical Genetics, 57, 195-202. doi: 10.1136/jmedgenet-2019-106396

Reynolds, J. J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., … Stuart, G. S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nature Genetics, 49(4), 537-549. doi: 10.1038/ng.3790

Fenwick, A. L., Kliszczak, M., Cooper, F., Murray, J., Sanchez-Pulido, L., Twigg, S. R. F., … Bicknell, L. S. (2016). Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. American Journal of Human Genetics, 99(1), 125-138. doi: 10.1016/j.ajhg.2016.05.019

Bicknell, L. S., Bongers, E. M. H. F., Leitch, A., Brown, S., Schoots, J., Harley, M. E., … Jackson, A. P. (2011). Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics, 43(4), 356-360. doi: 10.1038/ng.775

Bicknell, L. S., Walker, S., Klingseisen, A., Stiff, T., Leitch, A., Kerzendorfer, C., … Jeggo, P. A. (2011). Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nature Genetics, 43(4), 350-356. doi: 10.1038/ng.776

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Journal - Research Other

Knapp, K. M., Murray, J., Temple, I. K., & Bicknell, L. S. (2020). Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. American Journal of Medical Genetics Part A. Advance online publication. doi: 10.1002/ajmg.a.62016

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