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SUMMARY:Causes and Consequences of New Mutations. - Dr Matthew Hurles\, Th
 e Wellcome Trust Sanger Institute\, Cambridge 
DTSTART:20150226T143000Z
DTEND:20150226T153000Z
UID:TALK56516@talks.cam.ac.uk
CONTACT:Caroline Newnham
DESCRIPTION:Despite sophisticated DNA repair processes\, as a genome is pa
 ssed on to the next generation\, new\, heritable\, mutations are inevitabl
 e. We now know that every child has 50-100 new mutations\, most of which a
 re single base substitutions. Novel assays and technologies are giving us 
 unprecedented insights into the rates of the different underlying mutation
  processes\, and how these rates are influenced by parental sex\, age\, ge
 netic background and environmental exposures. I will describe our studies 
 in humans and mice that allow us to tease apart the influence of these dif
 ferent factors on different mutation processes. The results of these studi
 es have major implications for both evolutionary and medical genetics. New
  mutations that damage important functional elements in the genome are a p
 lausible cause of severe\, sporadic genetic diseases\, especially developm
 ental disorders such as intellectual disability and major organ malformati
 ons. I will describe our UK-wide study of thousands of parent-offspring tr
 ios with undiagnosed developmental disorders\, the Deciphering Development
 al Disorders  (DDD) study (www.ddduk.org). Using genome-wide genetic assay
 s (array-CGH and exome sequencing) we are currently able to provide diagno
 ses for 27% of these children\, most of which are new mutations. We have a
 lso identified more than 10 novel genes in which new mutations can cause d
 evelopmental disorders. This study has demonstrated the power of exome seq
 uencing parent-offspring trios for clinical diagnosis\, but also highlight
 s the need for international collaboration and data sharing to discover as
  yet unappreciated genetic causes of developmental disorders.\n\n
LOCATION:Part II Room\, Department of Genetics
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