Carme Camps

Work summary

I am a molecular and computational biologist with an interest in genomics and personalised medicine. My current research within the Oxford BRC focuses on the identification of genetic defects that lead to rare diseases, especially in disorders within the immunological, haematological and hepatic domains. I do this through the analysis and interpretation of Whole Genome Sequencing (WGS) generated for hundreds of cases recruited through the HICF2 programme, and other omics data when available. For certain findings, I conduct experimental validation of the predicted mechanism of action. I am also involved in the analysis of data from the 100K genomes project (Genomics England) as part of the Immune GeCIP.

I am particularly interested in the investigation of digenic inheritance and in the identification of disease-causing variants in the non-coding region. A recent example, done in collaboration with Holger Cario and Betty Gardie, includes the discovery of a new cryptic exon hidden in the first intron of the VHL gene. Variants found within this region in patients with erythrocytosis or von Hippel-Lindau disease induced a dysregulation of the VHL splicing with excessive retention of the cryptic exon associated with a downregulation of VHL protein expression.