We have strong links with the Neurogenetics Unit, headed by Dr Mark Davis, within Diagnostic Genomics at PathWest. We contribute towards iterative updates of the bespoke targeted gene panels that are run as part of the diagnostic service for neurogenetic diseases at PathWest. 

 

We also collaborate with PathWest to enable new technologies and informatic tools to be adopted into the diagnostic setting. For example, our group was instrumental in embedding a Bionano Saphyr instrument within PathWest and validation of this optical genome mapping approach as a new diagnostic test for the diagnosis of FSHD (NATA-accreditation pending). 

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We are also collaborating on STR calling from short-read targeted gene panel sequencing for neurogenetic diseases including myotonic dystrophies, OPDM, ataxias and motor neuron disease. 

 

The research group also perform follow-up functional genomic studies to aid in the reclassification of variants of uncertain significance (VUS) that are identified at PathWest, these include RNA-sequencing and transcriptomic analysis, qPCR, minigene assays to assess cryptic splicing, western blotting, immunofluorescence and cell-based over-expression assays.