Characterising mitochondrial dysfunction resulting in inherited hearing loss and ovarian failure.

Perrault syndrome is a rare inherited condition resulting in sensorineural hearing loss and ovarian insufficiency (infertility). Changes in a number of genes have already been identified to cause this condition. These genes encode proteins important in mitochondrial function. We have ascertained women with Perrault syndrome without variants in any of the known genes. Genome sequencing has identified novel variants in genes not previously associated with Perrault syndrome, which encode important components of the mitochondrial ribosome.

The student will train in using novel genomic technologies, including whole genome sequencing, to identify novel genes that cause Perrault syndrome. Further, the student will undertake functional studies on human cells from an affected individual and in yeast to define the effects of the changes in the novel genes on mitochondrial function. These state of the art studies will equip the student for a future career in molecular genomics.

A wide range of genetic, biochemical and molecular biology techniques will be utilised to answer the research questions including human cell culture, exome sequencing, whole genome sequencing, RNA-seq, RT-PCR, in vitro splicing assays, minigene models for splicing and cellular/animal models of disease.

Candidates are expected to hold (or be about to obtain) a minimum upper second class honours degree (or equivalent) in Genetics, Biochemistry or Molecular Biology. Candidates with experience in next generation sequencing and/or bioinformatics are encouraged to apply.