Champion of genomic medicine, Professor Kathryn North, has been awarded the Companion of the Order of Australia as part of the Australia Day honours.

The Murdoch Children’s Research Institute (MCRI) Director and the Victorian Clinical Genetics Services (VCGS) Executive Chair has dedicated her life to improving healthcare by promoting the use of genomics in mainstream medicine.

Prof North’s discoveries on genetic disorders have helped thousands, and as director of the MCRI she leads 1300 researchers, including some of the country’s superstars of genomic medicine.

Professor Kathryn North received her early research and clinical training focusing on childhood genetic conditions and neurology (muscular disease) at the University of Sydney and Sydney’s Royal Alexandra Hospital for Children.

Prof North undertook research training at the top international research laboratories in muscular genetic disease, winning a postdoctoral post with Louis Kunkel and Alan Beggs in the Harvard Genetics Program at Boston Children’s Hospital.

Returning to Sydney, she set up the Institute for Neuromuscular Research at the Children’s Hospital at Westmead (only six years after receiving her medical doctorate) - and soon became its leader.

As Head of the Neurogenetic Clinic at Westmead, 1999-2013, Prof North cared for more than 2500 children and adolescents with rare neuromuscular disorders. Her team discovered more than 20 disease genes, providing a diagnosis for a majority of the 60 known neuromuscular disorders.

Prof North was appointed Director of the MCRI and Executive Chair of VCGS in 2013. The MCRI is now one of the top three child research health centres in the world, and together with VCGS is one of the largest contributors driving genetic healthcare, research and policy in Australia.

Prof North is an advocate for international collaboration and data sharing. MCRI’s researchers are identifying new genetic conditions by locating child patients with similar symptoms around the world. Working with geneticists from across the globe they are finding new disease genes.

Prof North has been instrumental in establishing a national coordinated approach to genetic diagnosis, and positioning Australia as a leader in genomic medicine. She helped set up Australian Genomics, a consortium of more than 70 institutions. Its aim is to integrate genetics into healthcare thus making genomic medicine a reality for all Australians. Australian Genomics includes state-based genetics services, hospitals, universities, research institutions and patient advocacy groups.

Prof North has been recognised through numerous prizes and awards, including in the last five years the Bethlehem Griffiths Research Foundation Medal, Fellowship of the Australian Academy of Health and Medical Sciences (FAHMS), Ramaciotti Medal for Excellence in Biomedical Research, and GlaxoSmithKline Australia Award for Research Excellence.