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13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation

Monday, 27 April 2015 to Thursday, 30 April 2015 from 10:30 AM - 1:00 PM

Holiday Inn Leiden, Netherlands



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Organisation: Newcastle University, Newcastle upon Tyne

Position: Professor of Clinical Genetics

Professor Sir John Burn Kt MD FRCP FRCPE FRCPCH FRCOG FMedSci

Professor of Clinical Genetics, Newcastle University, Newcastle upon Tyne, UK

Sir John was knighted in the 2010 New Year’s Honours list for services to Medicine and Healthcare. He was born and raised in North East England and attended Newcastle University Medical School. In 1973 he was awarded a first class honours degree in Medical Science after an intercalated year in Human Genetics. He completed medical and paediatric rotations before being appointed Clinical Scientific Officer at the MRC Clinical Genetics Unit in London. As honorary senior registrar at the Hospital for Sick Children Great Ormond Street he completed training as a clinical geneticist and was became the first specialist in the field in the North East in 1984. From 1989 - 2004 he led a unified clinical and laboratory team, the Northern Genetics Service, caring for the three million people of the North east and Cumbria. He became the first Professor of Clinical Genetics in 1991 and has over 250 peer reviewed publications. He became Director of the Institute of Human Genetics (IHG) from 2005-10 during which time the tenured academic staff rose to 33, 18 of them professors with an overall staff of approaching 200 and a 3rd place behind Oxford and Cambridge for Quality in the 2008 Research Assessment.

He conceived and helped bring to fruition the Millennium Landmark Centre for Life in Newcastle opened by the Queen in 2000. In addition to housing the IHG and the region’s Fertility and Genetics services, the Centre attracts a quarter of a million paying visitors to its science centre and provides practical science education to 40,000 schoolchildren per annum. From 2000-2005 he was a founder member of the Human Genetics Commission. From 2002-7 he was Public Orator for Newcastle University. Extensive media involvement includes being scientific advisor and participant in the BBC/Discovery series How to Build a Human in 2001.

In 2008 he was appointed chair of the newly created Clinical Genetics Specialty Group of the National Institute of Health Research. In 2009 he became Director of the national Collaborative Group on Genetics in Healthcare and Lead Clinician for the NHS in the North East of England. In 2010 he was appointed to chair the Innovation strand of the new UK Human Genomics Steering Group and became chair elect of the British Society for Human Genetics..

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Organisation: Human & Clinical Genetics, Leiden University Medical Center

Position: Head, Leiden Genome Technology Center

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" ( As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]). 


Organisation: UCLA School of Medicine

Position: Professor; Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics

Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, one of the first such facilities in the country to offer DNA-based tests for diagnosis of a wide variety of genetic, infectious, and neoplastic diseases, as well as bone marrow engraftment, patient specimen identification and paternity testing by DNA fingerprinting. He is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. In addition, he is heavily involved in basic molecular genetics research involving regulation of gene expression of arginase and related enzymes in hereditary arginase deficiency and various cancers, population molecular genetic screening, and construction of artificial human mutation samples. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS/CLSI, CDC, AMP, and the NIH-DOE Human Genome Project (ELSI program). He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. He has served for four years as chair of the Advisory Committee on Genomic Medicine for the entire VA healthcare system, and he is President of the American College of Medical Genetics. Recent awards include the Lifetime Achievement Award from the College of American Pathologists and the Ward Burdick Award for Distinguished Service to Clinical Pathology from the American Society for Clinical Pathology. As a sidelight, Dr. Grody has been active in the film and television industries for many years, first as film critic for MD Magazine, a national leisure journal for physicians, then as technical advisor and sometime writer for a number of feature films, TV movies, and television series including Life Goes On, Chicago Hope, CSI, Medium, Law and Order, Heroes, and both Nutty Professor movies. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).

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Organisation: National Genome Analysis Centre, Barcelona, Spain

Position: Director

Ivo Gut took on the direction of CNAG in January 2010.

He qualified in Chemistry at the University of Basel in 1985 and obtained a PhD in Physical Chemistry from the same university in 1990. Then he joined the research group of Prof. Irene Kochevar at Harvard Medical School as a research fellow.

Between 1993 and 1996 he was research fellow with Dr. Stephan Beck at the Imperial Cancer Research Fund in London. Later, at the Max-Planck-Institute for Molecular Genetics he led a group in the Department for Vertebrate Genomics of Prof. Hans Lehrach.

In the 11 years before joining the CNAG he worked at the Centre National de Génotypage of the Commissariat à l'Energie Atomique in Evry, France, first as Head of Technology Development and later as Associate Director under Prof. Mark Lathrop.

His research interests are high-throughput nucleic acid analysis, sequencing, SNP genotyping, genomics, genetics, nucleic acid and protein analysis methods (molecular biological techniques and chemical modification), implementation of methods, automation and analysis.

He is the author of over 100 research papers, inventor of 24 patents and patent applications, founder of 4 biotech companies (Genom Analytik GmbH, Biopsytec GmbH and Epigenomics AG, Integragen SA). He is the coordinator of the 12M€ EU FP7-funded Integrated Project READNA on DNA sequencing technology development.


Organisation: Stockholm University, Sweden

Position: Professor, Science for Life Laboratory, Department of Biochemistry and Biophysics

Mats Nilsson received his PhD in Medical Genetics in 1998 with Prof. Ulf Landegren as supervisor. He stayed at Leiden University Medical Centre as EMBO post-doctoral fellow 1999-2000, to learn microscopy and histochemistry techniques. In 2001 he returned to Uppsala University and in 2003 he became Associate Professor in Molecular Medicine. He leads a group of 7 PhD-students and 3 postdocs and their research is focused on developing single-molecule and single-cell gene analytic tools, employing advanced molecular tools combined with microscopy and microfluidics.

Mats Nilsson is author of 88 journal articles, published in journals including Science, Nature Genetics, Nature Biotechnology, Nature Methods, PNAS, Analytical Chemistry and Nucleic Acids Research. He is inventor of 7 patents and he is co-founder of Parallele Inc (South San Francisco, later acquired by
Affymetrix Inc), Olink Bioscience, Halo Genomics (later acquired by Agilent), and Q-linea in Uppsala.He is member of the board of directors of Olink Bioscience and chairman of the board of Q-linea. 

Main Area of Research:

The main aim of our research is to develop improved techniques for molecular analyses. The techniques will enable determination of quantities and location of specific nucleic acids in situ; amplified single-molecule detection in solution; and sequence composition of DNA samples and intact
cells and tissue.

The basic molecular devices are be used are the padlock- and selector probes, that are both acting through a strictly target dependent ligase-mediated DNA circularization reaction. These reagents have a specificity matching that of PCR, but can unlike PCR be deployed in highly multiplex analyses.

An important objective is to apply these techniques in collaborative projects to solve fundamental research questions and to serve unmet clinical diagnostic needs. In a multidisciplinary approach, dedicated micro and nano devices employing the molecular detection techniques will be developed, to
enable rapid, sensitive and cost-effective point-of-care diagnostics.

Organisation: TBA

Position: TBA

Other invited speaker TBA

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Organisation: Hubrecht Institute

Position: Researcher

Siddharth Dey received his Ph.D. working with Professor David Schaffer and Professor Adam Arkin in Chemical and Biomolecular Engineering in 2012 from the University of California, Berkeley. He studied how the decision between a latent and lytic state in Human Immunodeficiency Virus-1 (HIV-1) is regulated by viral gene expression noise. Further, using quantitative single-cell techniques, he studied how the chromatin environment regulates gene expression dynamics in the mammalian genome. In 2013, he moved to Professor Alexander van Oudenaarden's group as a post-doctoral researcher at the Hubrecht Institute, The Netherlands. Since traditional single-cell methods, such as single-molecule mRNA FISH, allow quantification of only a handful of parameters concurrently, he started developing new genome-wide techniques that enables sequencing both genomic DNA and mRNA from the same single cell. He is currently working towards automating such single-cell methods and extending such genome-wide techniques to epigenetic measurements in single cells. 


Organisation: KU Leuven, Leuven, Belgium

Position: Head Laboratory for Cytogenetics and Genome Research

Joris R. Vermeesch, Ph.D. Ir, is professor Molecular Cytogenetics and genome research at the University of Leuven, is faculty member of the European Genetics foundation, is heading the Constitutional Cytogenetics unit of the Center of Human Genetics, Leuven, Belgium and coordinating the Genomic Core, a joint KULeuven-University Hospital facility hosting the latest genomics equipment. He graduated at the University of Nebraska, Lincoln, USA for his studies on telomere biochemistry. Subsequently he joined the Center of Human Genetics in Leuven, Belgium during which period he was mainly interested in the structure and evolution of telomeres and centromeres and the development of a human artificial chromosome. Before taking up his current position, he was head of the genomics unit in the basic research division of Aventis CropScience and responsible for large scale genome analyses in several crops.

Research interests
The laboratory has three focus areas. First, the laboratory is at the forefront of genomic technology development and implementation. During the last five years, the laboratory focused on implementing array CGH in molecular diagnostics and on novel applications of array CGH. A major area of attention is the detection of genome wide CNV and SNP detection in single cells. Currently, the laboratory is developing methods massive parallel sequencing applications in preimplantation, prenatal and postnatal diagnosis. Second, in collaboration with clinical geneticists, the laboratory actively seeks to define the molecular causes of developmental, mental and behavioural disturbances. The group is partner of the SymbioSys, the systems biology center of excellence in computational biology to mine high throughput data analysis tools and to identify novel gene functions through data fusion methods. Third, based on the large cytogenetic screens, the laboratory is interested in understanding the mechanisms underlying chromosomal instability.


Organisation: Laboratory of Reproductive Genomics, Department of Human Genetics, KU Leuven Leuven Belgium

Position: Assistant Professor

Thierry Voet, group leader. He holds a Master of Science in Engineering: Cell- and Gene Biotechnology from the University of Leuven (KU Leuven, Belgium), and an inter-university post-graduate in Human Genetics. He obtained a PhD from the department of Human Genetics (KU Leuven), and performed postdoctoral research within the VIB (Flemish Institute for Biotechnology) and SymBioSys (a Centre of Excellence for computational biology, KU Leuven; Laboratory of Cytogenetics and Genome Research) – pioneering single-cell microarray analyses. Subsequently, he joined the Cancer Genome Project at the Wellcome Trust Sanger Institute (WTSI, UK) to explore next-generation sequencing technologies for single-cell genomics. Since 2011, he is an Associate Faculty member at WTSI, and a founding member of the Sanger-EBI Single-Cell Genomics Centre. Since 2014, he is also associate professor at KU Leuven. His research focuses on (1) the development of wet-lab and computational methods for single-cell (epi)genomics and transcriptomics. (2) The application of these methods to study functional genetic heterogeneity, as well as DNA-mutation processes, in normal (embryonic) development and in disease.


Organisation: MIMR-PHI Institute of Medical Research, Melbourne, Australia

Position: Group Leader

Dr Stefan White completed his undergraduate training at Victoria University in New Zealand, and was awarded his PhD from the Faculty of Medicine at Leiden University, the Netherlands in 2005. The subject of his thesis was copy number variation in the human genome, developing and implementing several molecular techniques that were used in the study of developmental delay, cancer, and muscular dystrophies.

In 2007 he moved to the Murdoch Childrens Research Institute, Melbourne, Australia, where he was awarded an NHMRC Postdoctoral Training Fellowship and Project Grant to study the genetic basis of Disorders of Sex Development. He is currently a Senior Scientist and Group Leader at MIMR-PHI Institute of Medical Research, Melbourne, Australia. His group’s research is focused on studying genetic variation and human disease, with a particular interest in copy number variation and non-coding DNA.