Dr Louise Bicknell.
Genetic mutations can cause abnormal brain development in some children. The resulting small head, known as microcephaly, leaves Kiwi families asking, “what's going to happen to my child?”. Dr Louise Bicknell, a Rutherford Discovery Fellow, has been awarded an HRC Consolidator Grant, a Project Grant by the Neurological Foundation and a Marsden Standard Grant, all to hunt for the genetic mutations that cause these abnormalities and understand their effects.
Louise and her team sift through the genes of families with microcephaly to find which rare mutation might have been the cause of the rare disease. The mutation can be brand new in the child or passed down from both parents, and the odds of these mutations occurring is less than one-in-a-million. It's a tedious and sometimes fruitless task, but “it only takes one gene from one family to start off a series of exciting research projects”.
These genetic studies are more commonly available overseas, but till now, Kiwi families have had limited access. By pinpointing the cause of the disease, Louise's team helps these families better understand their child's quality of life and the risk for their future children. Using an online tool, Louise can even connect families across the globe with the same rare disorder, to form support groups.
With the tools they have to sift through the human genome, Louise and her team are uniquely positioned to help Kiwi families. The University of Otago has acknowledged Louise's outstanding research by naming her joint winner of the 2020 University of Otago Rowheath Trust Award and Carl Smith Medal. “We don't impact lots of families, but for the families we can help, it makes a huge impact”.