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Institution

Supervisor

Gianpiero Cavalleri

Rob has a degree in genetics and cell biology, a PhD in bioinformatics, and is a member of Gianpiero Cavalleri's human genetics group.

His work revolves around genetic diagnostics and identification of novel genetic elements related to neurological disorders, specifically epilepsy and cortical dysplasia. This involves coding variant analysis pipelines aimed at capturing both inherited and non-inherited deleterious mutations in the genomes of patients with these conditions. He is also working with industry partner Congenica on their clinical genomics analysis platform Sapientia. 

Additionally, Rob is interested in the development of a standardised phenotype ontology for the description of seizures which can be linked with their causal genomic variants, and the incorporation of this ontology into the Irish Electronic Patient Records in order to increase the efficiency of epilepsy categorisation and diagnoses.

Research Areas