Dr John MacMillan, Senior Staff Specialist at Genetic Health Queensland and Associate Professor of Medicine at The University of Queensland, passed away on December 21, 2014, aged 55 years. John was founding director at Genetic Health Queensland and was well known for his research contribution into the genetic basis of neurological disease.

Born in November 1959 in Aberdeen, Scotland, John was the first child and only boy in a sibship of four. From an early age, John was attracted to the medical profession, announcing at the age of 4 years his intention to become a doctor when he grew up! His intelligence was apparent in early life, winning a scholarship to Robert Gordon's College at the age of 10 years. John breezed through high school, at one stage skipping an entire school year, and was admitted to the University of Aberdeen's medical school at the tender age of 16 years. There, he was invited to and undertook an intercalated Bachelor of Medical Biology. Graduating from medicine in 1983, John subsequently chose internal medicine as a career, specializing in neurology and clinical genetics. John undertook a doctorate of medicine under the tutelage of Professor Peter Harper; his thesis entitled ‘The Charcot-Marie-Tooth syndrome: A population genetic study in South Wales’. John subsequently involved himself in researching the genetic basis of a number of other neurological conditions, including myotonic dystrophy and Huntington disease. His contributions to defining the genotype–phenotype correlations in Huntington disease, specifically helping to elucidate the correlation between triplet repeat expansion and disease severity, lifted John onto the international stage.

In late 1994, John was head-hunted from across the globe to establish a clinical genetics service for the State of Queensland, Australia, where he was foundation director of genetic services for 8 years. John embraced his new home, and contributed enthusiastically to many local and national committees. In particular, he contributed many years of his career to professional and government human research ethics committees. He also established a postgraduate degree in genetic counseling at Griffith University, Brisbane, Australia. However, ultimately, aside from his much loved and doted upon family, John's proudest achievement was successfully convening the International Congress of Human Genetics in Brisbane, in 2006.

For the past several years, John donated his time to work as clinician and educator with Indigenous families in East Arnhem Land affected by Machado–Joseph disease (MJD), their carers and local health care professionals. He regularly visited the communities, collaborating with colleagues in the MJD Foundation. In 2013, John was awarded the prestigious Rowan Nicks Russell Drysdale fellowship, presented to him by the Governor of New South Wales, to allow him to continue his work in Arnhem Land. The value of John's contribution to the communities is now honored by the establishment of the ‘John MacMillan Indigenous Australian Genetic Education Program’ –– a bursary that will carry on good work in his name.

John is survived by his wife Sarah; children Ewen, Liusadh, and Kieran; grandchildren Kaleas and Elijah; and the staff of Genetic Health Queensland who will miss his sage advice and cheeky Scottish antics.