Genomics of rare diseases: Lessons learned from whole exome and genome sequence analysis Event as iCalendar

(Biodiversity and Biosecurity, Biological Sciences, Chemical Sciences, Seminars)

12 June 2017

1 - 2pm

Venue: Mac 1, Biology Building

Location: 5 Symonds Street, City Campus

Host: School of Biological Sciences

Cost: Free - all welcome


Genomics of rare diseases: Lessons learned from whole exome and genome sequence analysis

Dr Polona Le Quesne Stabej, Centre for Translational Research-GOSgene, Great Ormond Street Institute of Child Health, University College London, UK

Rare diseases are individually rare but collectively common and largely caused by genetic factors. Given the considerable clinical and genetic heterogeneity, reaching a molecular genetic diagnosis in these rare and frequently poorly characterised disorders is challenging. While conventional diagnostic tests with microarrays, candidate genes and gene panels are of limited use, next generation sequencing offers an unbiased approach enabling the discovery of novel pathogenic variants and disease pathways.

Since 2013, Dr Polona Le Quesne Stabej has been working in the GOSgene team; a group established to link clinicians and researchers, and to facilitate rapid gene identification in rare genetic diseases using next generation sequencing.

In this talk, Dr Le Quesne Stabej will present the set-up of the whole exome and whole genome pipelines with focus on variant analysis pathways, and the challenges with the interpretation of complex and currently still imperfect sequence data.  Dr Le Quesne Stabej will present cases with recessive, dominant (including transmission from a mosaic parent) and de novo inheritance patterns. She will also discuss the importance of large databases of genetic variation (ExAC, gnomAD) and genotype-phenotype sharing databases (GeneMatcher) for the interpretation of variants observed in rare disease patients.