Red X iconGreen tick iconYellow tick icon
Skip to main content

Contact Details

Phone
+64 3 479 5056
Email
louise.bicknell@otago.ac.nz

University Links

Position
Associate Professor
Department
Department of Biochemistry
Qualifications
BSc(Hons) PhD
Research summary
Genetics of rare disorders
Teaching
GENE411, GENE360, BIOC360, BIOC463
Memberships
  • Co-Deputy Director, Genetics Otago
  • Regional Representative, Human Genetics Society of Australasia
  • Co-Chair, Personal Awards Committee, Neurological Foundation of New Zealand

Research

Louise repatriated to Otago from the University of Edinburgh in 2015 with a Rutherford Discovery Fellowship, and was thereafter supported by an inaugural HRC Consolidator Grant. She joined the Department of Biochemistry as a Senior Lecturer in 2021. In 2020 Louise was awarded the Rowheath Trust Award and Carl Smith Medal from the University of Otago. Her group’s work is supported by grants from the Health Research Council of New Zealand, Cure Kids, Neurological Foundation of New Zealand (including support from the Broad Family Trust), University of Otago and the Marsden Fund.

Bicknell laboratory logo Rare disorder genetics

Our research centres around understanding how alterations in our DNA can influence or cause genetic conditions. We are people-focused, studying families from New Zealand and overseas where a child is affected by a rare genetic disorder. Using DNA sequencing and cell biology, we aim to identify the causes of these disorders. Our ultimate goal is to be able to provide information to the family to help them understand the causes of their child’s condition, help with expectations for the future, and provide better information as to the chance of having more children who are also affected.

We have several disorders we are particularly focused on.

Meier-Gorlin syndrome and DNA replication

Meier-Gorlin syndrome is a very rare genetic disorder, with approximately 80 patients known about from around the world, including only 2-3 from New Zealand. Children are both small, and often have a small head (microcephaly), small ears (microtia) and small or absent kneecaps. There are some facial features which can clinically aid in diagnosing Meier-Gorlin syndrome.

We have a long track-record in studying this syndrome, and have identified most of the genes involved (eg Bicknell et al., Nat Genet 2011a, 2011b; Knapp et al, J Med Genet 2020, Knapp et al Eur J Hum Genet 2021), including three genes through a 2015 Marsden-funded project. All genes are involved in the earliest stages of DNA replication, a complex process required in almost every cell, where new DNA is synthesised for partitioning into a daughter cell as the cells grow and divide. We continue to study patients with this condition to further identify other genes important in this syndrome, but also to understand why specific body parts, like ears and kneecaps, are so sensitive to the mutations. We are also interested in harnessing the power of these mutations as a growth restrictor, for their potential involvement in cancer.

genes associated with Meier-Gorlin syndrome play essential roles as part of bigger complexes in the initiation of DNA replication

Syndromic Microcephaly

Supported by the Neurological Foundation, we are studying children with New Zealand with a significantly reduced head size (microcephaly). We identify mutations in approximately 50% of the patients we study, in a mixture of established disease genes and novel candidate genes, which we investigate further using both cellular and animal models, and gather more patients through our international networks.

Developmental disorders in New Zealand children

We also study children with a variety of developmental disorders, often including intellectual disability and/or short stature. Using exome sequencing as a starting point, we aim to identify the pathogenic variants, and delve deeper in studying patients with an atypical feature or a novel genetic disorder.

Publications

Bicknell, L. S., Hirschhorn, J. N., & Savarirayan, R. (2025). The genetic basis of human height. Nature Reviews Genetics. Advance online publication. doi: 10.1038/s41576-025-00834-1 Journal - Research Article

Cuinat, S., Chatron, N., Petit, F., Brunelle, P., Dincuff, E., Aubert Mucca, M., … Mulligan, M., Bicknell, L. S., … Putoux, A. (2025). XRCC4-related microcephalic primordial dwarfism: Description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches. European Journal of Human Genetics. Advance online publication. doi: 10.1038/s41431-025-01821-0 Journal - Research Article

Ray, S., Sullivan, R., Ruegg, M., Gimenez, G., Horsfield, J., Poke, G., … Bicknell, L. (2024). The spliceosomal factor CRNKL1 is a novel disease gene required for brain development. European Journal of Human Genetics, 32(Suppl. 2), C04.1. doi: 10.1038/s41431-024-01732-6 Journal - Research Article

Sandal, P., Jong, C. J., Merrill, R. A., Kollman, G. J., Paden, A. H., Bend, E. G., … Bicknell, L. S., & Strack, S. (2024). De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: Potential links to mitochondrial dynamics and spinocerebellar ataxias. Human Molecular Genetics, ddae166. Advance online publication. doi: 10.1093/hmg/ddae166 Journal - Research Article

Karayol, R., Borroto, M. C., Haghshenas, S., Namasivayam, A., Reilly, J., Levy, M. A., … Mulligan, M. R., Bicknell, L. S., Poke, G., … Yordanova, R. (2024). MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. American Journal of Human Genetics. Advance online publication. doi: 10.1016/j.ajhg.2024.05.001 Journal - Research Article

Back to top