A multi-disciplinary workshop with a focus on the clinical interpretation of genomic test results for paediatric onset syndromic and neurological disorders.
The workshops are aimed at Consultant Geneticists, Genetic Counsellors, Paediatricians and Paediatric Neurologists working in the NHS in England. Places are fully funded by HEE, so there is no cost for attendance or accommodation for the night of 21st September.
Genomic testing can be a highly effective strategy for the molecular diagnosis of rare disorders but requires a multi-disciplinary approach where clinical scientists, referring clinical teams and other experts (where required) determine suitable cases for testing, interpret the results and decide on a management strategy. This is a new way of working, bringing together the skills, experience and expertise of the clinical teams, clinical scientists and international genetic community to achieve a diagnosis for patients where this was previously not possible.
The aim of this two day multi-disciplinary training workshop is to provide a forum for learning and sharing of ideas about the use of exome and genome sequence analysis to diagnose rare diseases. There will be a mixture of short talks and interactive workshops with hands on experience of different tools that aid genomic variant interpretation.
Faculty members include the Exeter Exome Service, Prof Caroline Wright from University of Exeter and the DDD study, Dominic McMullan from Central and South GLH, Dr Ellen Thomas, Amanda Pichini and Dr Arianna Tucci from Genomics England.