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	SUBMISSION SUBCATEGORY
IFT140	Skeletal ciliopathy	Autosomal recessive	Phenotype expansion of a known disease gene
SCN4A	Congenital myopathy and inborn errors of metabolism disorder	Autosomal dominant	Variant of uncertain significance
SCN2A	Refactory epilepsy	Autosomal dominant	Phenotype expansion of a known disease gene
CHRNA2	Focal epilepsy	Autosomal dominant	Variant of uncertain significance
NTRK2	Epilepsy syndrome (developmental and epileptic encephalopathy) and obesity, hyperphagia, and developmental delay	Autosomal dominant	Variant of uncertain significance
DYNC1H1	Genetic peripheral neuropathy (Charcot-Marie-Tooth disease), intellectual disability and, proximal spinal muscular atrophy	Autosomal dominant	Variant of uncertain significance
NPRL3	Drug resistant focal epilepsy	Autosomal dominant	Variant of uncertain significance
CHAT	Presynaptic congenital myasthenic syndrome	Autosomal recessive	Variant of uncertain significance
DNAI2	Primary ciliary dyskinesia	Autosomal recessive	Variant of uncertain significance
SCN1A	Drug-resistant focal epilepsy	Autosomal dominant	Phenotype expansion of a known disease gene

 

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 within four weeks of receiving your invitation. You will receive a confirmation email on submission.

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/