Exciting news in Australian-led bone research

A team of researchers lead by Garvan Institute of Medical Research have identified genes which play a role in bone health. The internationally significant findings, published in Nature Genetics,  is hoped to pave the way for new treatments in the future.  

The research team included Professor Peter Croucher and Dr Ryan Chai from the Garvan Institute of Medical Research, Associate Professor John Kemp from Mater Research, and Professor Graham Williams and Professor Duncan Bassett from Imperial College London.

Professor Croucher said “Most people don’t realise that bones are constantly changing – the human body replaces its skeleton every 10 years or so. This is a hugely important process, but until now we’ve had a very limited understanding of the cells and mechanisms that control this turnover of bone.”

The researchers used state-of-the-art single-cell RNA sequencing to measure which genes are switched on within individual cells found in bone.

Dr Chai said the team’s extensive analysis found 34 different groups of cells and defined the genes that are active in each of these cell types “To our surprise, more than half of the genes identified have never before been shown to play a role in maintaining bone health, which is a significant finding,” Dr Chai added.

Dr Ryan Chai and Professor Peter Croucher (image courtesy of Garvan Institute of Medical Research)

The team used its map to identify cells involved in common skeletal diseases, including osteoporosis, and rare conditions such as osteogenesis imperfecta.

For osteoporosis, the team studied the UK Biobank (a collection of biological samples from half a million participants) and analysed genetic and bone density data. The researchers were able to pinpoint exactly which cells drive skeletal disease.

Associate Porfeesor Kemp from Mater research said “These include cells known to regulate bone formation and bone loss, as well as blood vessel cells that, until now, have had underappreciated roles in bone health.”

The groundbreaking data has been made available worldwide through an open access platform.  It is hoped the findings will lead to developments in treatment for osteoporosis, rare skeletal conditions and cancer.