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18 Headlines Dr Louise Bicknell is an Associate Professor in the Department of Biochemistry at the University of Otago. The Bicknell lab studies rare genetic disorders in children that cause reduced growth and smaller brain size (microcephaly). This summer she will be supervising Neurological Foundation summer student Logan Dennis. She tells us about her nearly 15 years’ worth of hard work to provide answers to families of New Zealand children with microcephaly, and why it has been so worthwhile. What are your biggest research achievements? We are proud that our research can have an immediate, significant and mana-enhancing impact on the families we study. Our lab has discovered and studied genes that haven’t been linked to a genetic disorder before. Not every testing centre or group is able to do this. So far we have successfully found three new disease- related genes. This took a lot of mahi, each finding starting with a single New Zealand family. Since then, the discovery of these novel genes has helped nearly 60 families worldwide get a diagnosis. Right now we are honoured to be working with around 40 New Zealand families. We have been able to find a genetic alteration in about 50%, which is quite high compared to other studies. How long have you studied microcephaly? The first family with microcephaly I studied was for my PhD, so that was 15 years ago! All the different disorders and themes I have studied since then have been linked to microcephaly in some sort of capacity. After my PhD I headed to the University of Edinburgh to study single gene disorders of growth. In 2015 I was awarded a Rutherford Discovery Fellowship to return to New Zealand and establish my own genetics research lab. The Neurological Foundation grant I received in 2017 was my first project as principal investigator from the Foundation. What motivates you? Some of the families we work with wait years and go through multiple tests and doctors trying to get an answer, so a huge burden is lifted when they finally get this information. For some families, receiving a genetic diagnosis will be life-changing. It can enable the possibility of using in vitro fertilisation and genetic testing to help with a healthy pregnancy. We are always humbled by their appreciation – our goal is simply to help families, using our expertise. One family from overseas who became involved in our research because of the genetic similarities with a New Zealand patient said that they had waited 14 years for an answer. Fourteen years! No one should need to wait that long, and it keeps us incredibly motivated that we can help. Is it challenging to attract funding? We’re very appreciative of the support from the Neurological Foundation, as funding can be hard to find. Funding for rare disease research can have less of a priority because it affects a smaller part of the population, but this doesn’t console families who are living with a rare disorder. Seven percent of our population have a rare disorder. New Zealand is falling behind other countries and regions that do support this large group of people. Even with the latest techniques and computational approaches, not every patient will get an answer, so there is a way to go, and more research to do! 10 YEARS ON Associate Professor Louise Bicknell