Project opportunity: Unmatched genes requiring investigation

Do you have the capacity to functionally analyse patient variants in known disease genes?

The following genes have been approved by the clinical review committee but have not yet been matched to a research team who is capable of performing functional studies.

GENE	DISEASE ASSOCIATION	INHERITANCE PATTERN
SCN2A	Refractory epilepsy	Autosomal dominant
CHRNA2	Focal epilepsy	Autosomal dominant
NTRK2	Epilepsy syndrome (developmental and epileptic encephalopathy) and obesity, hyperphagia, and developmental delay	Autosomal dominant
MAST3	Epileptic encephalopathy	Autosomal dominant
DNASE1L3	urticarial vasculitis	Autosomal recessive
CHAT	Nonimmune hydrops fetalis	Autosomal recessive
NHLRC2	Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA)	Autosomal recessive
EFEMP2	Cutis laxa	Autosomal recessive
ZMIZ1	Neurodevelopmental disorder	Autosomal dominant
PLD3	Leukodystrophy	Autosomal recessive

 

Complete the survey to register your interest. More information will be provided to assist you in developing a project proposal.

If interested, you will be emailed a copy of our project proposal form to complete. Please submit your application to functional.genomics@mcri.edu.au by the due date specified in your confirmation email (2-4 weeks). 

We encourage researchers to utilise existing capabilities in their project design. Phenomics Australia is an NCRIS-funded initiative that offers and expertise in developing animal to assist project development. For more information, contact John Parisot at j.parisot@therapeuticinnovation.com.au or visit https://phenomicsaustralia.org.au/