Tuesday 24 April 2018 at 19:30pm, MadLab, Manchester, M4 1HN

In this talk Bill will explain the way that a new technique called whole genome sequencing is being used in a nationwide study in the NHS called the 100,000 Genomes Project. Whole genome sequencing is rapidly able to generate the DNA sequence (all 3 billion letters or nucleotides) in an individual. Over 99.9% of our DNA sequence we share in common with all other humans but the small differences can sometimes result in severe health problems that can affect many family members if passed from generation to generation. Gene sequence variants can also occur spontaneously through life. Some of these can be important in how individuals develop cancer. The results emerging from this work is already transforming the care of patients with rare diseases and cancer and will become routine in the future delivery of healthcare.

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Professor Bill Newman is a clinician scientist. He studied Medicine at Manchester University and completed professional training in adult medicine in the North West of England. He started training in Clinical Genetics in 1995 and undertook a PhD as a Wellcome Trust Clinical Training Fellow on the Genetics of Osteoarthritis in the Wellcome Trust Cell Matrix Centre. He moved to Toronto to undertake a two year Arthritis Society Fellowship with Professor Kathy Siminovitch where he worked on the genetic basis of rheumatoid arthritis and inflammatory bowel disease.

He took up my post as Clinical Senior Lecturer in Genetics at the University of Manchester and Honorary Consultant at St Mary's Hospital in 2004 and was awarded my Chair in 2013. His research has focussed on pharmacogenetics - defining the genetic factors that influence how patients respond to their medications. He has an interest in the use of different technologies to define disease causing genes and have used SNP arrays and next generation sequencing approaches to identify a number of novel genes responsible for a range of conditions. He has established a Genome Clinic to use next generation sequencing to diagnose conditions that it was previously challenging to correctly define. This is now leading to studies to discover specific treatments for inherited disorders.

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