VALE DR PATRICIA KAILIS AM, OBE, FTSE
Each year in Australia, 6,000 babies are born with a genetic condition. Currently around 80% of these genetic conditions remain undiagnosed. Patricia’s scientific goal was to build a genetic hub that could provide answers for these families. In 2019, the Kailis Family established the Patricia Kailis Fellowship to provide funding for mid-career researchers focused on rare genetic diseases. It was Patricia’s wish to make WA a global hub for genetic research.
Well-known for her work in the fishery and pearling industries in WA, some people may not know that Dr Patricia Kailis conducted world-first, groundbreaking research on genetic diseases, mapped debilitating conditions such as Duchenne Muscular Dystrophy (DMD), and provided vital information to families considering having a child.
So effective was her research that, while working in the Neuropathology Department at Royal Perth Hospital, Dr Kailis and Professor Kakulas established genetic counselling program for Muscular Dystrophy and neuromuscular diseases, resulting in a marked decrease in X-linked muscular dystrophy in Western Australia – the first recorded decrease in the incidence of an inherited disease as a result of genetic counselling.
Dr Kailis mapped extensive family trees, starting from a single patient with a nerve or muscle disease. This work was done before the era of gene discovery, but it laid the groundwork for the future identification of disease genes related to certain diseases.
Dr Kailis identified distinct patterns in families and, as a result, could give couples information about their chances of having a child with a particular condition.
For example, she gave women in a family a risk score of the likelihood of them being a carrier of DMD.
Her revolutionary work was the foundation for the internationally recognised genetic discoveries of Perkins Professor Nigel Laing AO, who was able to use Dr Kailis’ family maps and identify the precise genetic mutations causing diseases in families.
Donations made in Dr Kailis’ memory will support the groundbreaking work of the Perkins Neurogenetic Diseases team – a leading team of experts who have discovered more than 30 disease-causing genes to date. Through valuable collaborations with clinicians across Australia and overseas, the neurogenetics team has made world-first discoveries that have positively impacted thousands of families affected by disease.