Neurocognitive disorders are one of the largest unmet challenges in Australian Healthcare with 3000 children born each year with moderate to severe intellectual disability. It has been difficult to make a gene diagnosis in these disorders due to their remarkable genetic diversity, however genomic technologies are changing this.
“There are more than 1500 genes which have been associated with intellectual disability so far, and it is estimated that over 1000 more are yet to be identified,” said A/Prof Roscioli.
“In the past, we relied on clinical diagnosis and gene-by-gene testing to diagnose neurocognitive disorders. This process was time consuming and only partially successful.
Through the CRE, A/Prof Roscioli is transforming the diagnosis of intellectual disability by using genomic sequencing.
“Genome sequencing allows us to look at all 1500 genes known to be associated with intellectual disability; this technique has already tripled the rate of diagnosis in people with moderate-severe neurocognitive disorders and has also allowed us to identify new genes,” said A/Prof Roscioli.
NeuRA Executive Director and CEO Professor Peter Schofield said the combined complexities of our brains and our genomes have meant that neurocognitive disorders have been especially difficult to diagnose and treat.
“The NHMRC Centre for Research Excellence in Neurocognitive Disorders aims to address this research challenge while meeting the health care needs of the several thousand children born with intellectual disability each year,” said Prof Schofield.
“We are proud to host the Centre for Research Excellence in Neurocognitive Disorders, a key new collaborative initiative which aims to improve the lives of young children and their families through faster and more accurate diagnosis, the first step in effective management and treatment.”
In addition to transforming the diagnosis of neurocognitive disorders, the new CRE also aims to:
· Understand how newly identified genetic variants contribute to disease
· Bring together genomic information and clinical information, including photographic analysis of facial shape, so as to identify neurocognitive disorder subgroups that could respond differently to treatment
· Investigate health economic models to contribute to policies to maximize resources for families
· Investigate pharmacological treatment options across different genes and biological pathways.