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Headlines 17 Dr Louise Bicknell, principal investigator and Rutherford Discovery Fellow from the University of Otago is currently researching genetic disorders of brain and body growth, with a particular focus on children with the genetic syndrome, Meier-Gorlin syndrome. Join us for one of our digital Discovery Sessions featuring Dr Louise Bicknell! Date: 8 September 2020 Time: 12.30 - 1.15 pm Registration: discoverysession- louisebicknell.eventbrite. co.nz Dr Louise Bicknell Rutherford Discovery Fellow University of Otago “Many thanks for such wonderful support from the Neurological Foundation, especially on providing additional salary and consumable support. The Neurological Foundation is the only funder I am aware of offering such valuable support, so thank you!” – Dr Louise Bicknell Meier-Gorlin syndrome is among one of her achievements, as she successfully identified six novel genes underlying this syndrome which causes short stature, a smaller brain, small ears and absent kneecaps. The Bicknell Lab: Human Genetics focuses on understanding how the genetic variation present in our genomes can shape or influence genetic conditions. Louise’s lab employs eight additional staff including several fellows, a research assistant, and students from the University of Otago. The Foundation funded Louise and her team in the 2017A grant round, meaning that before the COVID-19 lockdown, the lab was nearly done with the research they initially set out to do. The project supported by the Foundation and partly funded by the Cliff Broad Family Trust, uses genetic sequencing methods to identify genetic alterations that cause a reduction in brain size. The children specifically affected by these genetic alterations often have other issues, including intellectual disability and a delay in development, and can occasionally have features affecting other parts of their body as well. It is exceptional work that Louise and her lab are conducting, as it heavily relies on a ‘one-in-a-million’ child patient, meaning the children that have this genetic alteration are very hard to come by. But, over the years they have been able to develop a network of international like-minded researchers and clinicians to assist in finding other patients to study. “One standout example is where we started with studying one wee girl in New Zealand, and now have more than 20 patients from eight different countries with the same new syndrome!” COVID-19 halted the progress that Louise and her team were accomplishing though. The lockdown cancelled all elective clinical appointments, “which includes the clinical genetics appointments where patients and families might be offered to enrol in our study – delaying enrolment and research participants”. This meant those “one-in-a-million” children were now even harder to find and contact. Additionally, all of Louise and her team are on short/ fixed-term contracts. This meant increased anxiety regarding research outputs and worrying about where the next grant to continue their research would come from. You can imagine the relief Louise felt when she received a notification from the Foundation that we would be providing additional salary and consumable support, due to our passionate and lifelong supporters. She generously offered her thanks to the Foundation and supporters for such an opportunity, “many thanks for such wonderful support from the Neurological Foundation, especially on providing additional salary and consumable support. The Neurological Foundation is the only funder I am aware of offering such valuable support, so thank you!”