Dr Crina Samarghitean
For a number of years I have been involved in research developing bioinformatics tools for primary immunodeficiencies, using a system biology approach to tackle these challenging diseases. The systems developed were ranging from databases, registries, classification/networks algorithms, decision support systems and ontologies (HPO) for PIDs. Most recently I have been involved in NIHR BioResource – Rare Diseases project which has sequenced the genomes of 1,400 individuals with primary immunodeficiency disorders. To integrate the diverse clinical information into analysis of the genomic data, we adopted the Human Phenotype Ontology (HPO) as the standardised vocabulary of phenotypic abnormalities. An on-going research priority within our department is the identification of novel immunodeficiency genes, therapies and building new bioinformatics tools to facilitate the management of these complexes diseases.