Gene discovery in rare disease using genomic approaches

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 discovered three genes that lead to this condition. We have ascertained women with Perrault syndrome without variants in any of the known genes. Genome sequencing and work by a current PhD student 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 affected individuals and in yeast to define the effects of the changes in the novel genes on mitochondrial function. Other approaches will be employed dependent upon the results of the initial investigations. These state of the art studies will equip the student for a future career in molecular genomics.

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.