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/