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Matthew Hurles, Tuesday December 5

Wellcome Trust Sanger Institute

Causes and consequences of new mutations: relevance for neurodevelopmental disorders



Despite sophisticated DNA repair processes, as a genome is passed on to the next generation, new, heritable, mutations are inevitable. We now know that every child has 50-100 new mutations, most of which are 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, genetic background and environmental exposures. I will describe our studies in humans and mice that allow us to tease apart the influence of these different factors on different mutation processes. The results of these studies have major implications for both evolutionary and medical genetics. New mutations that damage important functional elements in the genome are a plausible cause of severe, sporadic genetic diseases, especially developmental disorders such as intellectual disability and major organ malformations. I will describe our UK-wide study of thousands of parent-offspring trios with undiagnosed developmental disorders, the Deciphering Developmental Disorders  (DDD) study ( Using genome-wide genetic assays (array-CGH and exome sequencing) we are currently able to provide diagnoses for 35% of these children, most of which are new mutations. We have also identified more than 30 novel developmental disorders. This study has demonstrated the power of exome sequencing parent-offspring trios for clinical diagnosis, but also highlights the need for international collaboration and data sharing to discover as yet unappreciated genetic causes of developmental disorders.

Last checked 2018-05-22 by Alexis Hervais Adelman

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