Louise completed her BSc (Hons) 1 st Class in Genetics at

Louise 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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