Speakers

Tim Aitman
Tim Aitman is Chair of Molecular Pathology and Genetics and Director of the Centre for Genomic and Experimental Medicine at the University of Edinburgh, Consultant Physician in NHS Lothian and Clinical Director of the Illumina HiSeq X whole genome sequencing facility, installed in April 2015 at the University of Edinburgh. He is PI of the £2 Million Edinburgh/St Andrews MRC Node in Molecular Pathology and Edinburgh PI of the £6 Million Scottish Genomes Partnership award from the MRC and Scottish Government.
He is a Fellow of the Royal College of Physicians, the Academy of Medical Sciences the Royal Society of Biology and the Royal Society of Edinburgh. He is a member of several external advisory boards (including the Sir Jules Thorn Medical Advisory Committee and Wellcome Trust Expert Review Group on Genetics), and editorial board member of Human Molecular Genetics, Mammalian Genome, Physiological Genomics, BMC Bioinformatics and BMC Medical Genomics. He was the Specialist Adviser for the 2009 House of Lords Science and Technology Committee's Inquiry into Genomic Medicine.
He has authored more than a hundred scientific papers, many highly cited, and has been invited to give over 150 plenary and state-of-the-art lectures at major national and international conferences. His research uses genome technology and information to gain insights into the pathogenesis of both rare and common diseases, and more recently to advance methods for disease diagnosis and stratification.

Sian Ellard
Sian is Professor of Genomic Medicine at the University of Exeter Medical School, a Consultant Clinical Scientist at the Royal Devon and Exeter NHS Foundation Trust and Clinical Director of the South West NHS Genomic Medicine Centre. She heads the Exeter Genetics Laboratory which provides a core facility for integrated research and diagnostic genetic testing. The laboratory receives samples from >80 countries throughout the world and is acclaimed for both its research into monogenic disorders and the translation of research discoveries into diagnostic service. Research interests include monogenic diabetes (with Professor Andrew Hattersley), congenital hyperinsulinism and applying next generation sequencing technology for disease gene discovery.  Sian has established a rapid, whole exome diagnostic sequencing service that uses a gene-agnostic, inheritance-based approach to achieve a high diagnostic yield of 42%.

Shane McKee
Shane McKee is a Consultant in Genetic Medicine at the Northern Ireland Regional Genetics Centre in Belfast City Hospital. He is the Principal Investigator for Northern Ireland's contribution to the 100KGP via the NI Genomic Medicine Centre. He is also Chief Clinical Information Officer for the Belfast Health & Social Care Trust and Deputy Clinical Lead for the Encompass Programme, which aims to establish a full Regional Electronic Health and Care Record across Acute and Community sectors in Northern Ireland. His main interests are the application of genomic sequence data to routine healthcare and the use of digital technology to "reimagine the work" of delivering health services.

Heidi Rehm
Heidi L. Rehm, PhD, FACMG is a board-certified clinical molecular geneticist and genomic medicine researcher. She is the Chief Laboratory Director at the Partners Laboratory for Molecular Medicine (LMM), the Medical Director of the Broad Institute Clinical Research Sequencing Platform and Associate Professor of Pathology at Brigham & Women's Hospital and Harvard Medical School. Both clinical labs focus on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical and translational use. The LMM and the Broad CRSP lab offer genomic sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects and the eMERGE program. Dr. Rehm is also involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics and Genomics. She is also one of several principal investigators of a major NIH-funded effort called ClinGen (Clinical Genome Resource) to support broad sharing of genotype and phenotype data and expert interpretation of genes and variants.  Dr. Rehm also co-leads a Center for Mendelian Genomics and, working closely with the Global Alliance for Genomics and Health, she is co-leading the Matchmaker Exchange project to aid in solving rare diseases.

Professor Julian Sampson DM, FRCP, FMedSci.
Professor Sampson is an academic clinical geneticist working at the School of Medicine, Cardiff University, UK where he is Director of the Division of Cancer and Genetics. He is also an honorary clinical consultant with the NHS All Wales Medical Genetics Service and undertakes clinics in Cardiff and west Wales for families with rare inherited conditions. He is Director of the Wales Gene Park that provides infrastructure for genomic research, education and engagement in Wales and Chair of the Welsh Scientific Advisory Committee that provides advice on health science to the Welsh Government. His research interests focus on inherited tumour syndromes and tuberous sclerosis and the use of genetic approaches to improve diagnosis and treatment of these conditions.

Richard Scott
Richard Scott is Clinical Lead for Rare Disease for the 100,000 Genomes Project at Genomics England and a Consultant and Honorary Senior Lecturer in Clinical Genetics at Great Ormond Street Hospital for Children and the UCL Institute of Child Health.
Richard trained in medicine at Cambridge University and University College London. He specialised in Paediatrics and subsequently Clinical Genetics in London and completed his PhD on childhood cancer syndromes at the Institute of Cancer Research. His main interests are in the clinical and molecular diagnosis of rare dysmorphic, neurological and multisystem childhood disorders. He has a particular interest in the translation of new genetic technology into clinical practice.

Nicoline Hoogerbrugge
Prof Nicoline Hoogerbrugge, MD, PhD, is full professor in hereditary cancer at Radboud University Medical Center, Nijmegen, The Netherlands. Her ambition is to improve detection, diagnosis and treatment of hereditary cancer and prevent cancer in relatives.
She is the coordinator of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) (www.genturis.eu).
Over the last 5 years, her work has mainly focused on the implementation of current knowledge in hereditary cancer and finding new genetic factors for gastrointestinal and childhood cancer.
Her research in the past 5 years resulted in:
1.    Detection of various new genetic risk factors for gastrointestinal cancer.
2.    Improved recognition of hereditary cancer (breast, ovarian, childhood, endometrial and colorectal cancer).
3.    Knowledge concerning efficient and effective implementation of guidelines on hereditary cancer.
4.    Knowledge on the psychosocial impact of hereditary cancer.
5.    Development of vaccination for the prevention of colorectal cancer in Lynch Syndrome.

Tom Shakespeare
Tom Shakespeare is Professor of Disability Research at University of East Anglia.  He was formerly at the WHO, where he co-authored the World Report on Disability (2011).  He has conducted many qualitative social research projects with disabled adults and young people.  His books include Disability Rights and Wrongs, and Genetic Politics: from Eugenics to Genome.  He has been writing and talking about prenatal diagnosis since 1995.   He is a member of the Nuffield Council on Bioethics, and chaired the working group on NIPT which reported in 2017.

Jay Shendure
Jay Shendure is an Investigator of the Howard Hughes Medical Institute and Professor of Genome Sciences at the University of Washington. His 2005 PhD included one of the first successful demonstrations of massively parallel or next generation DNA sequencing. Dr. Shendure's research group in Seattle pioneered exome sequencing and its earliest applications to gene discovery for Mendelian disorders (e.g. Miller and Kabuki syndrome) and autism; cell-free DNA diagnostics for cancer and reproductive medicine; molecular profiling of single cells; massively parallel reporter assays and saturation genome editing; and whole organism lineage tracing. He is the recipient of the 2012 Curt Stern Award from the American Society of Human Genetics, the 2013 FEDERAprijs, a 2013 NIH Director's Pioneer Award, and the 2014 HudsonAlpha Life Sciences Prize. He serves or has served on the Advisory Committee to the NIH Director, its Working Group on the US Precision Medicine Initiative, and the National Human Genome Research Advisory Council.

Michael Simpson
Michael is the Professor of Genetics at King's College London and Co-Head of Science at Genomics plc. His academic research is centred on the discovery of novel genetic determinants of human disease, with a particular focus on rare diseases and common complex diseases of the skin.
Michael's early career focused on understanding the genetic basis of recessive diseases identified at elevated frequency in the Old Order Amish. With the advent of next generation sequencing his research group has extensively utilised genome sequencing approaches to identify genes that are recurrently the site of mutation in unrelated individuals with rare phenotypes, his team has contributed to the discovery over 30 new genes involved in the pathogenesis of rare diseases.
At Genomics plc Michael co-leads the science team who are building robust scalable analytical systems to generate biological insight from large scale human genomic and phenotypic datasets.

Dr Clare Turnbull
Dr Clare Turnbull is the Clinical Lead for Cancer Genomics for the Genomics England 100,000 Genomes Project. She is also a Clinical Reader at Queen Mary University of London and leads a research team at Institute of Cancer Research, undertaking translational studies in cancer genomics and genetic predisposition, with a particular focus on the genetic basis of testicular cancer.  She is an honorary consultant in clinical cancer genetics at Guys and St Thomas NHS Foundation Trust.

Doug Turnbull
Professor of Neurology, Newcastle University Director Wellcome centre for Mitochondrial Research Director MRC/BBSRC Centre for Ageing and Vitality Lead for NHS Highly Specialised Service for Rare Mitochondrial Diseases of Adults and Children.