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Louise BicknellLouise completed her BSc (Hons) 1st Class in Genetics at University of Otago in 2003, undertaking an Honours project with Professor Robin Olds, in the Department of Pathology. She then continued her genetics research by undertaking a PhD (2004 – 2007) with Professor Stephen Robertson, Department of Women's and Children's Health, co-supervised by Dr Marion Maw, Department of Biochemistry. Her focus was the genetics of congenital joint dislocation, where she characterised mutations in the gene FLNB underpinning a spectrum of skeletal dysplasias, and also used genetic mapping and functional analysis to identify a novel disease gene causing a severe neurocutaneous syndrome in a NZ Maori family. She was supported through a University of Otago PhD scholarship, and during her PhD was awarded a Sir Claude McCarthy Fellowship to support travel to New Orleans for the American Society of Human Genetics Meeting, and also a Dunedin School of Medicine Publication Award.


She subsequently moved to Edinburgh, UK, to undertake post-doctoral research with Professor Andrew Jackson, on Mendelian genetics of growth disorders, primarily, primordial dwarfism, where children grow to a maximum of 1 metre, but in contrast to other forms of dwarfism, their head size is also greatly reduced. During her postdoc, she successfully identified >10 novel disease genes underlying this clinically and genetically heterogeneous condition, and assisted in making good inroads into understanding the biology underlying growth potential in humans. For the last 3 years of her postdoc she was personally funded by Medical Research Scotland, and managed a technician, funded by the Newlife Foundation for Disabled Children, UK.


In 2014, with young twins in tow, the lifestyle and science of New Zealand beckoned, and she was successful in receiving a Rutherford Discovery Fellowship from the Royal Society of New Zealand to repatriate to New Zealand to start an independent research lab. From September 2015 she is a member of the Department of Pathology, University of Otago, where she is investigating how human genetic variation causes and shapes human disease.

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