Clinical Exome Sequencing
David E. Barton:
David E. Barton is Chief Scientist at the National Centre for Medical Genetics in Dublin, Ireland, and Adjunct Associate Professor in Molecular Genetics at University College Dublin. Having trained in Dublin, Belfast, Yale and Cambridge, he set up the NHS molecular genetics diagnostic laboratory in Cambridge in 1988 and his current laboratory in Dublin in 1995. David Barton has been involved in work to improve the quality of genetic testing for many years, working with UK NEQAS, The European Molecular Genetics Quality Network (EMQN) and EuroGentest. He was co-ordinator of the EU CRMGEN project, developing certified reference materials for genetic testing and is now member of the Genetic Services Quality Committee at the European Society of Human Genetics. David has published over 100 papers in peer-reviewed journals on many aspects of the molecular genetics of inherited disorders.
Han Brunner is currently full professor and head of the department of Human Genetics at Nijmegen University Hospital. He has initiated and conducted several research projects that use clinical genetic observations as the starting point for human molecular genetic investigations into such topics as intellectual disability, human behaviour, skeletal development, brain development, neuromuscular disease, congenital malformations, and gonadal development and function. By pioneering the innovative use of novel genome analysis tools, and their successful application to intellectual disability research, Han Brunner has shown that small submicroscopic chromosome and de novo gene mutations may well be the most important causes of ID. This de novo paradigm now allows the development of accurate diagnostic strategies for this group of patients.
Dr Mark Cowley is a cancer genome scientist, who studies the genetic makeup of patient tumours using next generation sequencing. Dr Cowley’s research involves characterising the mutations and other aberrations present in patient tumours. Integrative analysis of functional genomics and other complementary datasets is then used to prioritise which mutations are responsible for the disease, and ultimately, which can be targeted by novel chemotherapeutics. In addition, Dr Cowley investigates the impact of noncoding RNA upon cancer, and is currently helping establish the Centre for Clinical Genomics in Sydney, Australia.
Sarah Ennis has a primary degree in biochemistry from University College Galway, Ireland and a PhD in Genetic Epidemiology studied under the supervision of Prof. Newton Morton and Prof. Pat Jacobs. She now leads the Genomic Informatics research group at the University of Southampton. The group is based on the University Hospital site and research projects benefit from close links with the clinical staff and access to patient data and samples. Dr. Ennis leads a team of postgraduate and postdoctoral research staff in the analysis of next generation clinical data. Specific projects include method development for quality assurance and data tracking; pathway analysis of NGS data in complex disease; next generation LD map development. Clinical areas of particular interest include autoimmune disease and immunodeficiency, cancer (breast cancer, lymphoma, rare cancers) as well as Mendelian disease encountered in clinical genetics, ophthalmology and nephrology.
H.Hilger Ropers studied medicine at the Universities of Freiburg and Munich. He received his M.D. in 1972 and his habilitation in the field of Human Genetics in 1978 from the University of Freiburg where he worked at the Institute of Human Genetics. From 1984 until 1997 he was Professor and Head of the Department of Human Genetics at the University of Nijmegen (NL) and since 1994 Director at the Max Planck Institute for Molecular Genetics in Berlin.
Jan Jongbloed is a clinical laboratory geneticist and his work involves both clinical care as staff member of the Genome Diagnostic section, as well as genetic research as project leader of molecular genetics and genomics projects within the Cardiogenetics research group. His work includes evaluating, introducing and applying novel techniques in (cardio)genetic diagnostics, particularly targeted re-sequencing and exome sequencing. In addition, his research group employs different genomic techniques, bioinformatical methods and molecular biology approaches to unravel the genetic causes underlying different types of cardiomyopathies and to enable genotype-phenotype relationship studies. Because of the rare nature of several of these cardiomyopathies, his work is often performed within close national and international collaborations.
Pascal Joset was born in Switzerland and studied biochemistry at the University of Basel. He obtained his PhD at the Brain research Institute of the ETH Zurich working on central nervous system development. Thereafter he worked as project manager for drug development and drug discovery for rare diseases at the Research Foundation Orphanbiotec and achieved a Master of Advanced Studies degree in Business Information Technology. In 2011 he joined the Institute of Medical Genetics of the University of Zurich and established there a next generation sequencing laboratory.
Steve has over 25 years of experience in Genomics and Bioinformatics. He was previously Vice President of Scientific Applications at Complete Genomics, where his team worked with CG's customers to help interpret thousands of whole human genome sequences. Prior to that Steve was Vice President of Informatics for Affymetrix, responsible for diagnostic and research-use microarray data analysis software, and he was Vice President of Bioinformatics for Incyte Genomics during the race to discover and sequence most of the human genes, particularly those of therapeutic and diagnostic relevance. Steve's academic background includes 7 years with Eric Lander at the Whitehead Institute and MIT during the initial phases of the human genome project.
Gholson Lyon is an assistant professor in human genetics at Cold Spring Harbor Laboratory (CSHL) and a research scientist at the Utah Foundation for Biomedical Research (UFBR). He is also a board-certified child, adolescent and adult psychiatrist. He earned an M.Phil. in Genetics at the University of Cambridge, England, then received a Ph.D. and M.D. through the combined Cornell/Sloan-Kettering/Rockefeller University training program. He completed clinical residencies in child, adolescent and adult psychiatry at Columbia and NYU-Bellevue, and he then started his independent research career in 2009. In addition to his research on the genetics of neuropsychiatric illnesses, Dr. Lyon is focusing on the genetic basis of rare idiopathic neuropsychiatric diseases and the development of clinical-grade exome and whole genome sequencing. Dr. Lyon also works within the Stanley Institute for Cognitive Genomics at CSHL to investigate the genetic basis of more common neuropsychiatric conditions, with a long-term goal of expanding access to preventive services for these disorders. Dr. Lyon is also committed to the open discussion and management of the ethical implications of human genetics research, along with helping to move whole genome sequencing into the clinical world.
German Pihan is a translational cancer researcher and diagnostician. His research interests revolve around the issue of genetic instability and dynamic genome evolution in cancer. His clinical work centers on cancers of the hemopoietic system, such as leukemia and lymphoma and the diagnostic impact of advances technologies such as NGS.
Peter Robinson was appointed Professor for Medical Genomics at the Charité University Hospital in 2012. He leads the bioinformatics group and also performs wetlab research on topics including Marfan syndrome. His group has focused recently on Next-Generation Sequencing, including exome sequencing and several other methodologies.
Dr. E. Worthey:
Dr. Worthey is an Assistant Professor in Pediatrics and the Director of Genomic Informatics at the Human and Molecular Genetics Center at the Medical College of Wisconsin. She is an expert in the fields of bioinformatics, genetics, and genomics, with a focus on application of genomics approaches to human health and disease. She was first author on a landmark report where Whole Exome Sequencing and analysis of a child suffering from a rare, devastating bowel disease identified a novel mutation leading to diagnosis and subsequent successful treatment. She continues to develop innovative tools and methodologies in support of clinical diagnostic and clinical research WGS; these tools are being used to uncover causative mutations and end diagnostic odysseys