I am a senior research associate and have been part of the team for almost ten years.
I am interested in the interaction between the nuclear genome (nDNA) and mitochondrion and mtDNA maintenance, in particular how nDNA variation contributes to complex mitochondrial disease. My current research involves using next generation sequencing, through whole exome sequencing, to identify and characterise novel disease genes in families that have mitochondrial disease, but no genetic diagnosis.
In addition to my own research I also undertake a number of other roles. I am responsible for the supervision and training of our PhD students as well as our technical staff.
The search for new disease genes responsible for mitochondrial disease
The maintenance and expression of mitochondrial DNA, including replication, transcription and translation, is dependent on both nuclear DNA and mitochondrial DNA (mtDNA). Often patients present with a mitochondrial disease without any mutations in their mtDNA. There are potentially 1200 nuclear encoded proteins involved in mitochondrial function and new proteins are still being discovered.
The aim of my research is to use next generation exome sequencing to identify new disease genes responsible for mitochondrial disease in families that do not have a genetic diagnosis. Establishing this genetic basis in patients will enable families to be counselled with definitive genetic advice.
Sponsor/funder: Wellcome Trust