Endocrine Genetics

Skeletal dysplasias (SD) encompass a complex group of >450 defined conditions affecting bone and cartilage growth. The underlying molecular defect remains unidentified in a relatively high proportion of patients, suggesting that further genes or mutations are implicated in both novel and already characterized signaling pathways.

Our research interests are the identification and functional characterization of  skeletal dysplasias. We routinely use a large customized targeted NGS panel to improve the detection of mutations and to aid our knowledge into the molecular basis of skeletal dysplasia. Mutations are identified in approximately 60% of cases, with very rare cases being detected. We, subsequently, functionally characterize several of these mutations to determine the pathogenic mechanism. Exome or genome sequencing is then undertaken in the cases where no molecular defect has been identified, with the aim to identify novel genes implicated in these disorders. Using this strategy, we have identified and characterised several new genes but many remain to be identified and characterised.

The projects aims are to identify and functionally characterize novel genes and genomic regions implicated in the etiology of SD, using a combination of NGS technologies and functional assays.