MCRI has been announced as the only non-European site to receive a prestigious Horizon2020 grant.

The researchers, led by VCGS' Professor Ravi Savarirayan, will receive AUD$8.4million to investigate a new treatment for Schmid dysplasia, a rare genetic disease characterised by short-limbed dwarfism and a waddling gait due to abnormalities in the legs and hips.

The 2018 Newborn Bloodspot Screening Best Practice Forum, presented by the Department of Health and Human Services and supported by Victorian Clinical Genetics Services (VCGS), was held on Friday 22 June in Melbourne. The forum featured presentations from leading experts with a focus on best practice, timeliness, quality, and an update on the recently released Newborn Bloodspot Screening National Policy Framework.

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Victorian Clinical Genetics Services (VCGS) welcomes the $500M allocation to investment in genomic research as part of the federal budget 2018.

The first research project ‘Mackenzie’s Mission’ is a $20M trial into pre-conception genetic carrier screening for serious genetic conditions like cystic fibrosis, spinal muscular atrophy and fragile X syndrome.

Carrier screening gives individuals and couples information about their chance of having a child with an inherited genetic condition: specifically cystic fibrosis (CF), fragile X syndrome (FXS) or spinal muscular atrophy (SMA). These three genetic conditions have serious health consequences and are some of the most common inherited conditions in the general population.

Tiong, Zornitza, Sue and Seb receiving their public health award

VCGS has been recognised for their groundbreaking work in genetic diagnostics by winning the ‘Improving Children’s Health’ category in the 2017 Victorian Public Healthcare Awards.

Their project titled ‘Pioneering clinical genomics in undiagnosed children’ demonstrated the benefits of genomic sequencing early in the diagnostic pathway. Sequencing provided a diagnosis in more than 50 per cent of patients, four times the rate of standard care (and cheaper too).


In June 2017, the Victorian Clinical Genetics Services became the first to include the assessment of all 24 chromosomes (chromosomes 1-22 + X and Y) in its non-invasive prenatal testing (NIPT) service. Most NIPT services identify pregnancies at increased chance of the common chromosome conditions such as Down syndrome, however percept™ now gives women and couples access to additional information about the health of their pregnancy.