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Kathy North, M.B.B.S., M.D., B.Sc (Med), FRACP - Gene discovery and disease mechanism in inherited muscle disorders as well as genes that influence normal skeletal muscle function and elite athletic performance

Kathryn North is trained as a paediatric physician, child neurologist and clinical geneticist. In 1994 she was awarded a doctorate from the University of Sydney for research into Neurogenetics. She completed a postdoctoral fellowship in the Harvard Genetics Program. Kathryn was appointed as Director of the Murdoch Childrens Research Institute in Melbourne and the David Danks Professor of Child Health Research at the University of Melbourne in February 2013. Her previous positions include the Douglas Burrows Professor of Paediatrics, Faculty of Medicine, University of Sydney (2004-2012) and Head of the Institute for Neuroscience and Muscle Research (2008-2012). Kathryn’s laboratory research interests focus on gene discovery and disease mechanism in inherited muscle disorders - particularly the muscular dystrophies and congenital myopathies – as well as genes which influence normal skeletal muscle function and elite athletic performance. Her clinical research focuses on clinical trials of therapies for muscular dystrophy and neurofibromatosis type 1 as well as the development of interventions for children with learning disabilities.

Interview with Russell Dale (RD)

RD:Kathy, we miss you in Sydney. How’s it going in Melbourne?
KN:Melbourne is home to a large and vibrant health and medical research community – every day is full of new experiences and challenges, which is incredibly rewarding.
RD:You are now the head of the Murdoch Medical Research Institute. A massive job! Tell us your average day?!
KN:The best part of my role is that there is no average day – I am never bored! The breadth and depth of research here at the MCRI is incredibly exciting and I have established a number of new initiatives to strengthen our research and ensure it translates into improvements in clinical care. This means engaging not only with members of the Melbourne Children’s campus (MCRI, The University of Melbourne and the Royal Children’s Hospital), but also with government and the community.
RD:You are so busy with multiple roles. Do you have time for research and how?
KN:I am passionate about my research so it will always be a part of who I am and what I do. I have been lucky to surround myself with fabulous collaborators, so I have conversations with friends about research, which I always enjoy and make time for, and I have a dedicated and talented research team based here in Melbourne and in Sydney.
RD:What is your favourite research paper and why?
KN:My favourite paper is the 1999 Nature Genetics paper – it arose from questions I was asking myself in the clinic. I was caring for a family in which two brothers had a severe form of muscular dystrophy, and neither of them had a protein called alpha-actinin-3 in their muscles. After successfully identifying the genetic change (mutation) that was preventing the protein from being expressed, other members of the same family were tested for it.
But when the result came through it brought pure disappointment - what we found was healthy family members who had the same genetic variant that stops the protein being expressed – so we knew it wasn’t what was causing disease in the family. I thought we’d found a new disease gene and we had just proved that it wasn’t. I started thinking that it wasn’t right to find a structural protein that was absent - it was such an unusual variation. Rather than a disease gene, I was witnessing an example of normal human variation.
Two years later, we published our findings in the prestigious journal Nature Genetics.
RD:Do you think everyone should do a research degree as part of their training, or do you think it should be just for people who are interested?
KN:I strongly encourage incorporating research into medical and allied health training. Research makes you a better health professional as you are continually gathering evidence for what really works. I am lucky to hold and have held positions where I have been able to provide research opportunities for fellows, advanced trainees and allied health professionals.
RD:Sydney or Melbourne... which one wins...?
KN:My heart still lives in Sydney as I have many friends and family who I don’t get to see as often as I’d like to.

 

Australia and New Zealand Child Neurology Society, ABN 12 146 982 452, ACN 146 982 452