Date(s) - 26/03/2015
4:00 pm - 5:00 pm
SGDP Seminar Room
Academic Clinical Fellow in Clinical Genetics, Department of Clinical Genetics and King’s College London & Guy’s Hospital
Over the past 5 years there has been a massive growth in genetic testing both in terms of the scope of testing and the numbers of individuals offered genetic testing. Targeted sequencing of small genomic regions has been replaced by genome-wide analyses of common variants, exons and most recently whole genomes. Furthermore, genetic testing both in research and clinical settings has been extended far beyond highly selected individuals with well-defined rare disorders. While this information presents new clinical opportunities and opens the way for the development of novel therapies, it also presents major challenges. There is good reason to think that variant interpretation will be particularly challenging for neurological disorders. Given these challenges, it is clear that making full use of whole exome/genome sequencing data to improve the likelihood of reaching a diagnosis and understanding the underlying pathogenesis, requires immense progress in the understanding of gene expression and regulation in human brain. I will discuss the ways in which transcriptomic data both in isolation and paired with genetic information can be used in this field.