| | We are honoured to announce the following Invited Speakers & their topics (in alphabetical order): BRCA Exchange Mobile: Enabling Patient Access, Notification, and Case-Level Data Ingress
Faisal Alquaddoomi ETH Zurich, Switzerland
A systematic framework for the clinical interpretation of chromosomal copy number variants Swaroop Aradhya
On behalf of the ACMG/ClinGen Structural Variant Working Group
Towards a single curated comprehensive diagnostic reference source for variants Sir Prof. John Burn
Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK Challenges in bioinformatics for genetic diagnosis Angel Carracedo
University of Santiago de Compostela, Galicia, Spain
Meiosis, recombination, and the origin of a species
Peter Donnelly
Wellcome Trust Centre for Human Genetics, Oxford, UK
Strategies for assembling high quality genome sequences
Ivo Gut
Centro Nacional de Análisis Genómico, CNAG-CRG, Barcelona, Spain Challenges in bioinformatics for genetic diagnosis Joaquin Dopazo
Fundacion Progreso y Salud, Clinical Bioinformatics Research Area, Sevilla, Spain Latest applications of innovative technologies in our research and diagnostics Johan T. den Dunnen Leiden Univ. Medical Center, Leiden, Netherland
A community-developed data model for representing sequence variation Reece Hart
Invitae, San Francisco, USA
Challenges in Variant Interpretation - How to minimize inter- and intra-laboratory inconsistencies Andreas Laner Medizinisch Genetisches Zentrum, Munich, Germany
INNOPHARMA: the Pharmacogenomics platform of the University of Santiago de Compostela Mabel Loza
University of Santiago de Compostela, Galicia, Spain
Naming Genetic Variation in Forensic Science: Alignment and Nomenclature of Next Generation Sequence Alleles Walther Parson
President International Society of Forensic Genetics, , Institute of Legal Medicine, Innsbruck, Austria Challenges with the compilation and naming of new variation revealed by massively parallel sequencing of forensic markers Chris Phillips
University of Santiago de Compostela, Galicia, Spain
BRCA exchange: a one stop shop for diagnosis Gunnar Rastch
ETH Zurich, Memorial Sloan-Kettering Cancer Center, Weill Cornell Medical College Advancing Drug Discovery - Translating Small & Big Data Into Insight Guna Rajagopal
Global Head of Computational Sciences within Discovery Sciences Janssen Pharmaceuticals R & D, Spring House, PA, USA.
Phenotype Driven Genomic Diagnostics Peter Robinson
Computational Biology Group at the Jackson Lab. for Genomic Medicine, Farmington CN, USA
From a list of variants to a diagnostic report: extracting clinically relevant information Maria - Jesus Sobrido
Instituto de Investigaciones Sanitarias de Santiago / Fundación Pública Galega de Medicina Xenómica (IDIS/FPGMX)
Novel genes involved in Fanconi anemia, DNA repair and cancer predisposition: the clinical relevance of functional studies of genetic variants Jordi Surrallés Calonge
Universitat Autònoma de Barcelona, Catalunya, Spain The Genomics England 100,000 Genomes Project: Establishing a centralised national resource of genomic data
Claire Turnbull Genomics England, Queen Mary University of London and Institute of Cancer Research, London, UK Sponsored Lectures
Accessing the full size-spectrum of human genetic variation using PacBio long-read SMRT sequencing on the Sequel System Luke Hickey Senior Director of Human Biomedical Sciences, PacBio
Advances in Personalised Medicine - Liquid Biopsy Alexander Sartori Agena Bioscience Rapid Genome Wide Mapping at the Single Molecule Level Using Nanochannel Arrays for Structural Variation Analysis and de novo Assembly
Sven Bocklandt
Senior Application Specialist, BioNano Genomics BioNanogenomics
Variant detection and the challenges beyond: what is needed to implement genetic information for clinical use? Prof. Dr. Daniela Steinberger Human Geneticist, Medical Director, bio.logis Center for Humangenetics, Frankfurt am Main, Germany LGC Sponsored Presentation ChromiumTM: Full spectrum genome analysis with Linked-Reads
Steve Giavas 10x Genomics
Raising the bar in NGS diagnostics : Challenges in Variant Identification
Zelie Dubreucq, Subject Matter Expert, at Sophia Genetics Sophia Genetics Sponsored Practical Demonstrations (personal laptop required)
Alamut - hands on practical training
Interactive Biosoftware
john burnsm.jpgOrganisation: 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..
dopazo.jpgOrganisation: Centro de Investigación Príncipe Felipe, Valencia, Spain Position: Head of the Computational Genomics Department Joaquín Dopazo obtained his PhD in Biology at the University of Valencia in 1989. After several appointments in different research centers he worked for 5 years in Glaxo Wellcome (now Glaxo SmithKline) during the late nineties. There he was developing methods for bacterial genomic analysis and he participated in several bacterial and fungal genome projects. In 2000 he moved to the Spanish National Cancer Center (CNIO), where he set up the Bioinformatics group. In the CNIO he designed the first Spanish microarray (the Oncochip) in 2000 and he developed the most used resource for microarray data analysis on the web (GEPAS), now discontinued and included in the Babelomics, one of the most used resources for genomic data analysis and interpretation (cited more than 1500 times). The scope of the algorithms and software developed has evolved currently to the field of massive sequence data analysis.
In 2005 Dr. Dopazo moved to the CIPF (Valencia) where he set up the Department of Computational Genomics (formerly Bioinformatics). There he promoted two genomic projects: the FutureClinic to prepare the scenario for the introduction of the genome in the electronic health record and the Medical Genome Project to sequence 1000 patients (800 sequenced to date) of inherited diseases to search for new biomarkers and disease genes. He was also involved in international projects such as the MAQC and SEQC (best practices in the use of microarrays and NGS, respectively, for finding diagnostic biomarkers) or the START consortium to characterize the variability of the rat genome. He has been also promoter of the CitrusGen project to sequence more than 500 citric genomes for genetic improvement purposes.
Dr. Dopazo also coordinates the HPC4Genomics consortium, a joint initiative of the CIPF, several universities and companies that aim to combine genomic, bioinformatic and computing skills to address the new challenges posed by the technological advancement in genomics. Dr. Dopazo’s interests revolve around functional genomics, systems biology and development of algorithms and software for the analysis of high-throughput data (mainly, but not restricted to, Next Generation Sequencing) and its application to personalized medicine, agrogenomics and nutrigenomics.
foto_Jordi_copia.jpgOrganisation: Univ. Autonoma Barcelona, Spain Position: Main Researcher With a PhD in Genetics and postdoctoral experience in the Leiden University Medical Center and the Finnish Institute of Occupational Health, he set up his research team at the UAB where he is currently Full Professor of Genetics. He is Director of the Biobank of DNA Repair Syndromes, Head of the Chromosome Fragility Service and team leader at the Center for Biomedical Network Research on Rare Diseases, where he acts as member of the Direction Board and coordinates the Area of Genome Instability and Cancer Predisposition Syndromes. In the last decade he has supervised 17 research grants awarded from public and private institutions world-wide, participated in several patents and contracts with private foundations and biotech-pharma companies and has given tens of lectures in international meetings. He has published over 70 articles and book chapters in prestigious journals including Nature, Genes and Dev, EMBO J, Am J Hum Genet, Blood or PNAS, and is reviewer of over 20 scientific journals and many funding agencies including the European Commission, Cancer Research-UK, INSERM, FARF Inc. and Dutch Cancer Society. His current research interests are cancer-prone genetic syndromes with defective DNA repair with special focus in Fanconi anemia. The final goal is to understand the mechanisms that maintain genome stability and protect us from cancer and ageing. gunnarratsch.jpgOrganisation: ETH Zurich, Switzerland Position: Head, Biomedical Informatics Group Data scientist Gunnar Rätsch develops and applies advanced data analysis and modeling techniques to data from genomics, high-throughput sequencing, clinical records and images.
He earned his Ph.D. at the German National Laboratory for Information Technology under supervision of Klaus-Robert Müller. His thesis is on iterative algorithms related to Boosting and Support Vector Machines. He was a postdoc with Bob Williamson and Bernhard Schölkopf. Gunnar Rätsch received the Max Planck Young and Independent Investigator award and was leading the group on Machine Learning in Genome Biology at the Friedrich Miescher Laboratory in Tübingen (2005-2011). In 2012 he joined Memorial Sloan-Kettering Cancer Center as Associate Faculty. In May 2016 he and his lab moved to Zürich to join the Computer Science Department of ETH Zürich.
The Rätsch laboratory advances computational methods for the analysis of big data common in the biomedical sciences. The group utilizes, develops and integrates ideas from machine learning, operations research, sequence analysis, statistical genetics, text mining and computer vision with the aim to discover relationships in complex biomedical data. 1680339.jpgOrganisation: Janssen Pharmaceuticals R & D Position: Global Head of Computational Sciences within Discovery Sciences Guna is currently the Global Head of Computational Sciences within Discovery Sciences at Janssen R&D. His team is mandated to provide “big data analytics”, high performance computing and genetics/genomics expertise to address and support the evolving need of researchers to identify and validate safe and effective large and small molecule drugs. He is a member of the Discovery Sciences Board, Chair of the R&D Informatics Committee and the J&J Real World Evidence (RWE) Senior Leadership team. Before joining Janssen, Guna was at the Rutgers Cancer Institute of New Jersey (CINJ), a NCI- designated Comprehensive Cancer Center, as Executive Director (Bioinformatics) and an Adjunct Professor of Radiation Oncology at the Robert Wood Johnson Medical School. In addition to providing Bioinformatics support to researchers in Rutgers and Princeton, with funding from the state of New Jersey and the Robert Wood Johnson Foundation, his team deployed inter-operable EMR’s that increases operational efficiency and improved treatment outcomes. The data collected was used to catalyze the Personalized Medicine Initiative at CINJ. He was a member of the Simons Center for Systems Biology at the Institute for Advanced Study, Princeton working with Arnie Levine to develop systems-level approaches to unravel the complex biology of ageing and the genetics of complex diseases such as cancer and autism. Prior to joining CINJ, he was the founding Executive Director of the ASTAR Bioinformatics Institute (BII) at the BIOPOLIS, Singapore. He led the team that developed and deployed state-of-the-art cyber- infrastructure, bioinformatics and high performance computing capabilities to support public and Industry-led research institutes co-located at the BIOPOLIS. He initiated a postgraduate program in Bioinformatics with the National University of Singapore, many of whose graduates have now received PhD’s from world-class universities. Prior to his appointment in Singapore, he spent twelve years at the University of Cambridge, United Kingdom. He was an Assistant Director of Research at the Cavendish Laboratory, where he conducted research and supervised PhD students and postdocs in theoretical and computational physics funded by grants from the UK, EU and Hitachi. He was also a Fellow and Director of Studies in Physics at Jesus College, Cambridge. Guna received his PhD in theoretical physics from the Georgia Institute of Technology and his undergraduate and MSc (in Particle Physics) from the University of Malaya. He is a member of various professional scientific organizations and has sat on research funding bodies in the US, UK, Ireland, Holland, Japan, Malaysia, Singapore, and European Union. He is a visiting professor with the University of Malaya Cancer Research Institute and was a scientific consultant to Unilever, Johnson & Johnson, Novartis AG and Daiichi-Sankyo. He was recently appointed to the Scientific Advisory Board of IMEC, Belgium (to advice on digital technologies in healthcare delivery) and to the Panel of Experts to the European Commission (to advice on the Digital Agenda for Europe Horizon 2020 Flagship Initiative). He can be contacted via email at grajagop@its.jnj.com. His profile in LinkedIn (www.linkedin.com/in/GunaRajagopal) provides additional information. phillipsC.jpgOrganisation: Instituto de Ciencias Forenses 'Luís Concheiro', Universidade de Santiago de Compostela Position: Researcher Christopher Phillips has been a full-time researcher in the Forensic Genetics Unit, University of Santiago de Compostela, Spain,. His research has focused primarily on SNP analysis; development of novel forensic markers, including new STRs, SNPs and Indels; forensic ancestry inference; accessing public genome-scale data for forensic purposes; and building open-access online population data resources for the genetics community, exemplified by SPSmart.
parsonW.jpegOrganisation: Institute of Legal Medicine, Innsbruck Medical University, Austria Position: A/Prof. Walther Parson received his PhD in forensic molecular biology in 1999 and holds an associate professorship since his habilitation in 2001 at the Institute of Legal Medicine, Innsbruck Medical University. WP was primarily responsible for research which resulted in the set up of the National DNA Database Laboratory of the Austrian Federal Ministry of the Interior in Innsbruck between 1994 and 1996, which he is currently heading. WP is a member of international forensic working groups including the ENFSI DNA Working Group (European Network of Forensic Science Institutes), EDNAP (European DNA Profiling Group), ISFG (International Society of Forensic Genetics) and others and works as advisor on international boards and steering committees such as the EAFS (European Academy of Forensic Science) and the ICMP (International Commission on Missing Persons).
WP leads a very active group of scientists that published more than 100 peer-reviewed articles in the forensic and medical genetic field within the past 5 years. This group received more than ten national and international scientific prizes in the same time frame. WP was awarded the bi-annual scientific price of the German Society of Legal Medicine in 2004 for closing the ranks between forensic and medical genetics and he received the scientific prize of the International Society of Forensic Genetics in 2005 for his work in the field of forensic mtDNA research. In 2009 he was appointed active member of the “German Academy of Sciences Leopoldina”. WP is member of the advisory board of the journals “International Journal of Legal Medicine” and “Forensic Science international Genetics”.
WP was repeatedly consigned to handle international requests on DNA fingerprinting such as the DNA identification of the Asian Tsunami-victims from Sri Lanka, the DNA identification of the remains of the two missing children of the Russian Tsar family or historical cases including the investigations on the putative Mozart skull and the Friedrich v. Schiller Code.
WP has focused part of his research on the development and curation of Internet-accessible forensic resources such as the ENFSI DNA WG STR-BASE and EMPOP (EDNAP mtDNA Population database), a global mtDNA databank that has refined forensic mtDNA quality standards by development and dissemination of new research protocols, guidelines and software that aid the processes of mtDNA data generation and evaluation.
mabelloza.jpegOrganisation: CIMUS Research Center. Av. de Barcelona s/n City: 15782 Santiago de Compostela Position: Professor bio coming Andreas yellow.pngOrganisation: Medical Genetics Centre, Munich Andreas Laner, PhD
Head of Genomics Program
Areas of Specialization
- Genetics of hereditary cancer syndromes
- Next-generation sequencing applications
- Interpretation and classification of sequence variants
Education & Experience
- Diploma in Biology, Ludwig Maximilian University, Munich
- PhD, Ludwig Maximilian University, Munich
Professional affiliations
- MGZ Munich, Head of Genomics Applications
- Member, European Society of Human Genetics
- Curator, Leiden Open Variation Database
- Organizational Committee, Variant Effect Prediction Training Course, Crete 2016
- Scientific Program Committee, 14th International Symposium on Variants in the Genome, Santiago de Compostela 2017
reecehart.jpgOrganisation: Invitae Position: Research & Engineering Fellow Reece Hart is a Research and Engineering Fellow at Invitae, a clinical genome diagnostics company, where he is part of the team building reliable systems to analyze, interpret, and communicate sequence variation. He is an active member of the Global Alliance for Genomics and Health, an international, non-profit alliance that is building a common framework of technical and ethical standards to enable the responsible, voluntary, and secure sharing of genomic and clinical data. He was previously director of engineering at 23andMe, the Chief Scientist for UC Berkeley's Genome Commons, and a scientist in target discovery and manager of research computing at Genentech. He received his PhD in molecular biophysics and Masters in computer science from Washington University in St. Louis. peter-donnelly-photo_fit_204x204.jpgOrganisation: Wellcome Trust Centre for Human Genetics Position: Director, Wellcome Trust Centre for Human Genetics, Professor of Statistical Science and Group Head / PI Peter Donnelly is Director of the Wellcome Trust Centre for Human Genetics and Professor of Statistical Science at the University of Oxford. He grew up in Australia and on graduating from the University of Queensland he studied for a doctorate in Oxford as a Rhodes Scholar. He held professorships at the Universities of London and Chicago before returning to Oxford in 1996. Peter’s early research work concerned the development of stochastic models in population genetics, including the coalescent, and then the development of statistical methods for genetic and genomic data. His group developed several widely-used statistical algorithms, including STRUCTURE and PHASE, and, in collaboration with colleagues in Oxford, IMPUTE. His current research focuses on understanding the genetic basis of human diseases, human demographic history, and the mechanisms involved in meiosis and recombination. Peter played a major role in the HapMap project, and more recently, he chaired the Wellcome Trust Case Control Consortium (WTCCC) and its successor, WTCCC2, a large international collaboration studying the genetic basis of more than 20 common human diseases and conditions in over 60,000 people. He also led WGS500, an Oxford collaboration with Illumina to sequence 500 individuals with a range of clinical conditions to assess the short-term potential for whole genome sequencing in clinical medicine; a precursor to the NHS 100,000 Genomes Project. Peter is a Fellow of the Royal Society and of the Academy of Medical Sciences, and is an Honorary Fellow of the Institute of Actuaries. He has received numerous awards and honours for his research. person-swaroop-aradhya-thumb.jpgOrganisation: Invitae Position: Ph.D., FACMG Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist who has helped shape professional practices and technology applications in clinical genetic testing over the past 15 years. He joined Invitae to help bring genetics into mainstream medicine by innovating laboratory technologies, fostering advances in evidence-based clinical standards, and building mechanisms to empower individuals globally to access their genetic information. Before Invitae, Swaroop was VP and senior laboratory director for Neurogenetics and Clinical Microarrays at GeneDx. He completed medical genetics training in 2007 at Stanford University and received his Ph.D. in molecular and human genetics in 2001 at Baylor College of Medicine. Over the course of his career, he has participated in the international Human Genome Project to sequence the X chromosome and helped characterize several genetic disorders. He is currently a ClinGen investigator, serves on the Board of Directors of the American Board of Medical Genetics and Genomics, and is an adjunct clinical associate professor at Stanford University School of Medicine. ivo gut.jpgOrganisation: 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. Johan yellow.pngOrganisation: LUMC 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" (http://www.DMD.nl). 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]).
peterrobinson blue.pngOrganisation: The Jackson Laboratory Peter Robinson studied Mathematics and Computer Science at Columbia University and Medicine at the University of Pennsylvania. He completed training as a Pediatrician at the Charité University Hospital in Berlin, Germany. His group developed the Human Phenotype Ontology (HPO), which is now an international standard for computation over human disease that is used by the Sanger Institute, several NIH-funded groups including the Undiagnosed Diseases Program, Genome Canada, the rare diseases section of the UK's 100,000 Genomes Project, and many others. The group develops algorithms and software for the analysis of exome and genome sequences and has used whole-exome sequencing and other methods to identify a number of novel disease genes, including CA8, PIGV, PIGO, PGAP3, IL-21R, PIGT, and PGAP2.
SELECTED PUBLICATIONS
Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med 6:252ra123, 2014.
Brookes AJ, Robinson PN. Human genotype-phenotype databases: aims, challenges and opportunities. Nat Rev Genet 16:702-15, 2015.
Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 42:827-9, 2010.
Robinson PN, Köhler S, Oellrich A, Sanger Mouse Genetics Project, Wang K, Mungall C, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D. Improved exome prioritization of disease genes through cross species phenotype comparison. Genome Res. 24:340–348, 2014.
Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet 83:610-5, 2008.
Susi picture.jpgOrganisation: Galician Public Foundation of Genomic Medicine Position: Neurogenetics Group Leader Dr. María-Jesús Sobrido is a Neurologist and phD in Molecular Genetics. After a postdoctoral period and Neurogenetics Fellowship at UCLA, Dr. Sobrido obtained a Miguel Servet Contract from the Institute of Health Carlos III for the incorporation of senior researchers in the Spanish National Health System. She currently leads the Neurogenetics Group in the Galician Public Foundation of Genomic Medicine (FPGMX), an institution directed by Prof. Ángel Carracedo within the University Clinical Hospital of Santiago de Compostela. The main interest of her group is the study of the genes, mutations and molecular mechanisms underlying neurodegenerative disorders, especially spinocerebellar ataxias, spastic paraparesis and other movement disorders. The group has tight links with clinical and genetic diagnosis in Neurology, and thus is also devoted to applying emergent technologies for the improvement of diagnostic algorithms in Neurogenetics. The FPGMX has strong genomic capabilities and next generation platforms, which the group is currently applying to study genetically heterogeneous neurological conditions. Much of Dr. Sobrido´s research has a translational component for genetic diagnosis and counselling. The group has started a mutation database on Cerebrotendinous Xanthomatosis and is involved with national and international consortia aimed at the development of variant databases for neurological traits. In this line, collaborations with computer engineering and bioinformatics researchers have led to some work to contribute to the development of phenotype ontologies for neurogenetic disorders. Dr. Sobrido´s group belongs to the CIBERER, a Spanish network centre for research on rare diseases. Her research team is also pursuing some studies into the genetic predisposition to complex neurological diseases (Parkinson´s disease, migraine), as well as pharmacogenetics in Neurology. Dr. Sobrido is a member of the Spanish Association of Human Genetics, as well as to the Spanish Society of Neurology, where she has been the coordinator of the Neurogenetics study group. She is one of the founder and board members of the Spanish Neurogenetics Association created in 2011 and has been actively contributing to the establishment of a Neurogenetics forum within the Human Variome Project. carracedoAngel.jpgOrganisation: Galician Foundation of Genomic Medicine Position: Director Professor of Legal Medicine and Molecular Medicine (University of Santiago de Compostela)
Director of the Galician Foundation of Genomic Medicine (the largest public institution for clinical genetics in Spain (1997-present)
Director of the Institute of Legal Medicine (1994-present)
Director of the National Genotyping Center (2003-present) and the Galician NextGeneration Sequencing Center. Angel Carracedo has carried out his professional and scientific work in Spain, pioneering the use of new technologies in forensic identification and creating a center where visiting scientists from all over the world are trained. In the most recent years he has extended his work to the field of molecular medicine and genome research where he has set up the most important center in Spain for the diagnosis of genetic diseases and with other colleagues from Barcelona and Madrid he has created the Spanish National Genotyping Center and the Galician Next Generation Sequencing center.
Over 400 papers in SCI journals including papers in Nature, Science, Nature Genetics in Cancer Genetics, Clinical Genetics, Pharmacogenomics and Forensic and population genetics.
He has published 10 books and over 400 papers in SCI journals, (see Carracedo A in PubMed), the majority in Clinical and Molecular Genetics, (Nature, Nature Genetics, Science, PNAS, Oncogene, Human Mutation, Human Molecular Genetics), Biochemical separation methods (Electrophoresis, Biotechniques, Clinical Chemistry), Human Population Genetics and Forensics (American Journal of Human Genetics, Gene, European Journal of Human Genetics, American Journal of Physical Anthropology, Human Heredity).
Regularly invited as a keynote speaker at meetings, workshops and symposia in virtually all European and North & South American countries, Mediterranean countries, Japan, Australia and other countries. Board member and external adviser of different national and international foundations.
Director of 70 Ph.D’s all with the highest qualification and 14 with University or National Awards.
Member of the board of the International Society for Forensic Genetics (www.isfg.org), the foremost forensic body that coordinates all the scientists working in the field throughout the world from 1990 to 2007. President of this society in the period 1999-2003 and vice-president 2003-2007. Vice-president of the International Academy of Legal Medicine (board member since 1996), president of the Mediterranean Academy of Forensic Sciences and member of the board on numerous societies of Forensic Science and Genetics. Member of EDNAP (European DNA Profiling Group) and chairman of international standardization bodies (i.e. DNA Commission, Forensic DNA regulator-UK, National DNA Commission Spain)
Board member of national and international societies in genetics, cancer and forensic science. President of the Spanish Society for Pharmacogenetics and Pharmacogenomics. Past president of ISFG and MAFS. Vicepresident of the IALM. Representative of Spain in European Medicine Agency (Pharmacogenetics Working Group)
Editor of Forensic Science International (Genetics), associate editor of Forensic Science International and member of the editorial board of the majority of the international and national journals of Forensic Science and genetics.
Member of the Consulting Council-Ministry of Health
Member of the Galician Council for Culture
Prizes and distinctions: Jaime I Award (the most important scientific award in Spain), Adelaide Medal (the most important scientific award in Forensic Science), Galien Medal, Medal Castelao , Medal of Galicia, Medal to the Police merit, Galician Prize of Research, Award Galicians of the World (Xunta de Galicia), various prizes from foundations and scientific societies.
Doctor Honoris Causa for different universities in Europe and the Americas clare-turnbull.jpgOrganisation: Genomics England, Queen Mary University of London and Institute of Cancer Research, London, UK Position: Senior Researcher Dr Clare Turnbull MD PhD MA MSc MRCP MFPH Reader in Medical Genomics, Queen Mary University London Clinical Lead for Cancer Genomics, Genomics England 100,000 Genomes Project Senior Researcher, Institute of Cancer Research, London Honorary Consultant in Clinical Genetics, Guys and St Thomas NHS Trust Dr Clare Turnbull is the Clinical Lead for Cancer Genomics for the Genomics England 100,000 Genomes Project, a world-leading NHS transformation project through which whole genome sequencing is being introduced into clinical care for cancer and rare disease. She also leads a research team at Institute of Cancer Research/Queen Mary University of London, undertaking translational studies in cancer genomics and genetic predisposition, with particular focus on the genetic basis of testicular cancer. Having trained as a Clinical Geneticist, she manages patients with familial cancer predisposition at Guys Hospital NHS Trust, London.
| |
