Congratulations to Dr Tony Roscioli (Team Leader in Rare Disease Genomics at the Garvan Institute of Medical Research) and other members of the Australian Genomics Health Alliance, who have secured a National Health and Medical Research Council (NHMRC) grant to establish a clinical Centre of Research Excellence (CRE) in severe neurocognitive disorders. The Centre is one of only six CREs awarded late last year by the NHMRC, and aims to transform the diagnosis of these disorders through the application of whole genome sequencing techniques.
Neurocognitive disorders have in the past been difficult to diagnose given the considerable diversity in the genes underlying these disorders—around 1200 genes are reported to be associated with neurocognitive disorders, and many more thought to be linked—,but not yet identified.
The Centre also aims to:
- Understand how newly identified genetic variants contribute to disease;
- Bring together genomic information and clinical information, including 3D 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 and;
- Investigate pharmacological treatment options across the identified subgroups.
The Centre has formed a key partnership with Genomics England to extend the project across the globe, through the examination of genomic data of other families with the same or similar unique mutations.
Congratulations to the CRE Investigators:
CIA: Doctor Tony Roscioli
CIB: Professor Jozef Gecz
CIC: Doctor Michael Field
CID: Professor Deborah Schofield
CIE: Doctor Michael Buckley
CIF: Professor Kathryn North
CIG: Associate Professor Marcel Dinger
CIH: Professor John Christodoulou
CII: Professor David Amor
CIJ: Associate Professor Gareth Baynam