Clinical Academic Training

Clinical Genetics

Molecular Genetics of Infantile Nystagmus

  • Mervyn Thomas

Infantile nystagmus (IN) is a disorder characterised by the involuntary rhythmic oscillation of the eyes. In Leicester we have identified the FRMD7 gene, mutations of which are a major cause of infantile nystagmus.1 However previously approximately 50% of cases of IN remain genetically unsolved. We developed a nystagmus gene panel (336 genes) which has improved our diagnostic rate to 80%.2 We hypothesize that the remaining unsolved cases are due to new disease genes and potential copy number variants. As part of the 100,000 genomes project we had nominated IN with a view of identifying novel genes that are associated with this disorder. We have recently had project approval by Genomics England and are leading the novel gene discovery efforts for IN within the 100,000 genomes project.

The successful ACF will be working closely with the clinical and bioinformatics team to develop strategies to analyse and interpret whole genome sequencing data. They will also be involved in collecting phenotype data using optical coherence tomography and eye movement recordings, with a view to performing genotype-phenotype correlation studies. The pilot data obtained during the ACF will provide the foundation for a competitive fellowship application.

References

  • Tarpey P et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006 Nov;38:1242-4.
  • Thomas MG et al. Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing. Eur J Hum Genet. 2017 Jun;25:725-734.

Medical Education

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