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Professor Kathryn North
Professor Kathryn North AC, BSc(Med), MBBS, MD, DMedSc, FRACP, FAHMS, is Director of the Murdoch Childrens Research Institute and the David Danks Professor of Child Health Research at the University of Melbourne.
Professor North is trained as a paediatric physician, neurologist and clinical geneticist and was awarded a doctorate for research in neurogenetics. She completed a postdoctoral fellowship in the Harvard Genetics Program. She is a translational scientist and is widely recognised as a world leader in neuromuscular disorders, cognitive deficits in neurofibromatosis, and the study of genes that influence athletic performance.
Professor North is a national and international leader in genomic medicine. She leads Australian Genomics, an NHMRC-funded national network of over 80 institutions around Australia, with the goal of developing evidence and practical strategies to embed genomic medicine in the Australian health system. She is on the Executive and Steering Committee of the Global Alliance for Genomics and Health, a collaborative network of over 500 organisations across 71 countries.
She has received a number of awards for her research including the GSK Australia Award for Research Excellence (2011), the Ramaciotti Medal for Excellence in Biomedical Research (2012) and a Member (AM) of the Order of Australia (2012). Professor North also served as Chair of the National Health and Medical Research Council Research Committee from 2012-2018 and in 2014 was appointed as a Foundation Fellow of the Australian Academy of Health and Medical Science. In recognition of her eminent service to genomic medicine nationally and internationally, to medical research in the fields of genetics, neurology and child health, and as a mentor and role model, she was awarded a Companion (AC) of the Order of Australia in 2019.
- David Danks Professor of Child Health Research, Department of Paediatrics, University of Melbourne
- Honorary Visiting Medical Officer, Children's Neuroscience Centre, The Royal Children's Hospital
- Honorary Emeritus Consultant, The Children's Hospital at Westmead
- Honorary Professor, Sydney Medical School, The University of Sydney
2019: Companion of the Order of Australia (AC) for "eminent service to genomic medicine nationally and internationally, to medical research in the fields of genetics, neurology and child health, and as a mentor and role model"
2014: Foundation Fellow of the Australian Academy of Health and Medical Science
2012: Member of the Order of Australia (AM), "for service to medicine in the field of neuromuscular and neurogenetics research, paediatrics and child health as a clinician and academic, and to national and international professional associations"
2012: Ramaciotti Medal for Excellence in Biomedical Research
2011: GlaxoSmithKline Australia Award for Research Excellence
2008: Sutherland Lecturer in recognition of her research in genetics - Human Genetics Society of Australasia
Kathryn is a translational scientist and is widely recognised as a world leader in four major areas of research – neuromuscular disorders, cognitive deficits in neurofibromatosis, the study of genes that influence athletic performance and the implementation of genomic medicine into clinical practice. Her research team has made major contributions in the areas of gene discovery, improved diagnosis and prevention, understanding of disease mechanism and the development and evaluation of novel therapies through clinical trials.
Accurate genetic diagnosis is essential in guiding management, for the prediction of prognosis and recurrence risk, for prevention through prenatal diagnosis and, increasingly, for guiding appropriate therapy and eligibility for clinical trials of new therapeutic agents. Kathryn and her team have made major contributions to the discovery of 20 new disease genes. Using novel diagnostic approaches she has led the field internationally to enhance the diagnostic rate for these disorders - ten years ago, 10% of cases of complex neuromuscular disorders could be diagnosed, today, over 60% of patients can be accurately diagnosed using genomic technologies.
In 2010, Professor North lead the establishment of the Australasian Neuromuscular Network (ANN) to support the translation of research into clinical practice and to provide training for early career clinicians and researchers – the ANN has grown to include over 450 members.
Cognitive deficits in Neurofibromatosis
Her clinical research focuses the development of interventions for children with learning disabilities, including Neurofibromatosis type 1 (NF1). Kathryn was the lead investigator of an international trial of Lovastatin for the treatment of cognitive deficits in NF1 and was recently awarded two US Department of Defense grants to investigate the emergence of autism and atypical social functioning in children with NF1 and an intervention trial to examine the use of computerised cognitive training and stimulant medication for cognitive deficits in NF1.
Genes that influence athletic performance
Kathryn and her team first discovered that the ACTN3 gene influences skeletal muscle performance in elite athletes, and have gone on to define the underlying mechanisms involved (Kathryn holds an international patent on this discovery). ACTN3 is globally recognised as the best characterised gene to date that influences human muscle performance. Kathryn has recently shown that this variation influences disease severity in patients with Duchenne muscular dystrophy.
Kathryn has been instrumental in the discovery of over 20 new disease genes, providing immediate benefit to previously undiagnosed patients. Kathryn's gene discoveries combined with her research into the underlying mechanism/s of disease have directly contributed to an increase in the number of patients with neuromuscular disorders receiving an accurate diagnosis and disease specific treatment.
Kathryn leads national ( Australian Genomics Health Alliance) and international (Global Alliance for Genomics and Health) initiatives focused on genomic data sharing and the implementation of genomic medicine into clinical practice.
The use of recombinant adeno associated viral (rAAV) vectors to assess mechanisms of muscle mass and function in wild-type and Actn3 KO mice.
The absence of a-actinin-3 significantly reduces muscle mass in humans and mice (Actn3 KO). We will use rAAV as a tool to over express various proteins involved in the muscle hypertrophy/atrophy pathway to assess the role of ACTN3 in skeletal muscle mass and development.
Defining the role of a-actinin-3 in brown adipose tissue and the influence of ACTN3 genotype in adaptive response to diet and cold exposure.
North KN, Yang N, Wattanasirichaigoo D, Mills M, Tong HQ, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population: evidence for genetic redundancy in humans. Nature Genetics 1999;21:353-354.
Yang N, MacArthur D, Gulbin JP, Hahn AG, Beggs A, Easteal S, North KN. ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics 2003, 73:627-631
Macarthur DG. Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, Lemckert FA, Kee, AJ, Edwards MR, Berman Y, Hardeman EC, Gunning PW, Easteal S, Yang N, North KN. Loss of function of the ACTN3 gene alters muscle metabolism in a mouse model and has been selectively favored during recent human evolution. Nature Genetics 2007;39:1261-1265.
Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, Kaufman SJ Lamandé SR, North KN. Diagnosis and etiology of congenital muscular dystrophy. Neurology 2008;71:312-321.
Lek M, Quinlan K, North KN. The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric a-actinins. BioEssays 2010 Jan;32(1):17-25. 2010.]
Payne JM, Moharir MD, Webster R, North KN. Brain structure and function in neurofibromatosis type 1: current concepts and future directions. J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):304-9 [IF = 5.58]
Lorenzo J, Barton B, Acosta MT, North KN. Mental motor and language development of toddlers with neurofibromatosis type 1 (NF1). J Pediatr 2011 158(4):660-665
Seto JT, Quinlan KGR, Lek M, Zheng XF, Garton F, MacArthur DG, Houweling PJ, Gregorevic P, Turner N, Cooney GJ, Yang N, North KN. ACTN3 genotype influences muscle performance through regulation of calcineurin signalling. Journal of Clinical Investigation. 2013;123(10):4255-4263. [IF=12.812]
Yuen M, Sandaradura SA, Dowling JJ, et al. North KN*, Clarke NF*. Mutations in LMOD3 cause nemaline myopathy and show leiomodin 3 is an essential regulator of actin thin filaments in skeletal muscle. (*equal last author) Journal of Clinical Available online 24h September 2014 doi:10.1172/JCI75199
Pride NA, Korgaonkar M, Barton B, Payne JM, North KN. The genetic and neuroanatomical basis of social dysfunction – lessons from neurofibromatosis type 1. Human Brain Mapping. 2014 May;35(5):2372-82
Rossor AM*, Oates EC*, Salter HK, Liu Y, Murphy SM, Schule R, Gonzales M, Scoto M, Phadke R, Sewry CA, Jordanova A, Chamova T, Litvinenko I, Zuchner S, Herman D, Blake J, Sowden JE, Acsadi G, Rodriguez M, Menezes MP, Clarke NF, Auer-Grumbach M, Bullock SL, Muntoni F, Reilly MM*, North KN*. Phenotypic and molecular insights into Spinal Muscular Atrophy due to mutations in BICD2. 2014 Brain. (*equal first and last authors)