Dr Morad Ansari
Dr Morad Ansari came to Edinburgh in 2003 to study for a PhD in Population Genetics at the MRC Human Genetics Unit. As a post-doctoral scientist, he has worked on the genetics of rare developmental disorders in Professor David Fitzpatrick's research laboratory. In 2018, Morad registered as a clinical scientist and has since been involved in delivering a diagnostic service for severe developmental disorders at the South East Scotland Genetic Service, Western General Hospital, Edinburgh.
Professor Helen Firth
Professor Helen Firth DM FRCP FMedSci is a Consultant Clinical Geneticist at Cambridge University Hospitals and Hon Professor of Clinical Genomics at the University of Cambridge. She is an Honorary Faculty Member of the Wellcome Sanger Institute and a Bye-Fellow of Newnham College, Cambridge. Her main research interest is mapping the clinical genome by matching rare genomic variants to phenotype to empower diagnosis and discovery in rare disease.
In 2004, she initiated the DECIPHER project (www.deciphergenomics.org) that enables clinicians and scientists around the world to share information about rare genomic variants to facilitate diagnosis and help to elucidate the role of genes and variants whose function is not yet known. DECIPHER is a global project with more than 250 participating projects across six continents, covering the breadth of rare disease at a phenotypic and genotypic level. DECIPHER has facilitated, or been cited by, over 3,000 publications.
Since its inception in 2010, Prof Firth has been Clinical Lead for the Deciphering Developmental Disorders study (DDD study) (www.ddduk.org) one of the largest nationwide, genome-wide sequencing projects in rare disease. The DDD study is a partnership project between the UK NHS Genetics Services and Wellcome Sanger Institute that has exome sequenced 33,500 individuals. This has enabled detailed genomic analysis of ~13,500 children with severe developmental disorders & their parents to improve the diagnosis of these conditions and to further understand their genomic architecture and biology. Robust clinico-molecular diagnosis is key to the delivery of high-quality medical care and is the cornerstone of Genomic Medicine as applied to rare disorders.
Prof Firth is joint author of 'Firth HV & Hurst JA Oxford Desk Reference: Clinical Genetics & Genomics (2nd edition OUP 2017 ISBN 978-0-19-955750-9)’.
Dr Rhiannon Mellis
Dr Rhiannon Mellis is an ST3 in Clinical Genetics in the West of Scotland Centre for Genomic Medicine (Glasgow, UK). She is completing a PhD at the UCL Great Ormond Street Institute of Child Health (London, UK). In keeping with her interest in prenatal genomics, her PhD research focused on the evaluation of the implementation of rapid prenatal exome sequencing, as a clinical diagnostic service within NHS, England. In this project she aimed to identify the benefits and challenges of implementing prenatal exome sequencing technology in a public healthcare system, and how it can achieve the greatest clinical utility.
Professor William Newman
Professor William Newman is a Consultant in Clinical Genetics at the Manchester Centre for Genomic Medicine and Professor of Translational Genomic Medicine at the University of Manchester. His clinical research has focussed on pharmacogenetics - defining the genetic factors that influence how patients respond to their medications, and on rare inherited conditions. He has discovered a number of genes responsible for rare conditions, the complex mutational mechanisms that lead to these and the therapeutic approaches.