08:30 – 10:00 hrs | Concurrent Symposia S09-12 & Educational Sessions E10-E11
Chair: Martin Kircher
Room: Gold Room
S09.1 Applications and analysis methods for nanopore sequencing data
Jared Simpson;
Toronto, Canada
S09.2 Whole organism lineage tracing
Alexander F. Schier;
Cambrige, MA, United States
S09.3 Genome-wide identification of human non-coding variants that affect regulatory elements
Bas van Steensel;
Amsterdam, The Netherlands
Chair: Lucy Raymond, Marco Seri
Room: Auditorium
S10.1 Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Elise Robinson;
Cambridge, MA, United States
S10.2 Genetic diagnosis of Mendelian Diorsorder via RNA sequencing
Holger Prokisch;
Munich, Germany
S10.3 Pathogenic variants that alter protein code often disrupt splicing
William G. Fairbrother;
Providence, RI, United States
Chair: Lucia Migliore, Monica Miozzo
Room: Brown 3
S11.1 Epigenetic mechanisms regulating energy balance
Robert A. Waterland;
Houston, TX, United States
S11.2 Epigenetic therapies for neurodegenerative and neuropsychiatric diseases
Cemil Kerimoglu;
Goettingen, Germany
S11.3 Epigenetics of major psychiatric disease: the circadian perspective
Arturas Petronis;
Toronto, Canada
Chair: Valerie Cormier-Daire, Sandro Banfi
Room: Blue 1+2
S12.1 The non-coding morbid genome in inherited retinal diseases
Elfride De Baere;
Ghent, Belgium
S12.2 Monosymptomatic and syndromic childhood-onset severe retinal dystrophies: News and Views
Jean-Michel Rozet;
Paris, France
S12.3 Seeing disease through stem cells: using patient iPSC to understand disease mechanisms and test therapies
Michael Cheetham;
London, United Kingdom
Chair: Maris Laan
Room: Red 1+2
E10.1 Genetic basis of male reproductive disorders
Csilla Krausz;
Florence, Italy
E10.2 Genetic basis of female reproductive disorders
Lawrence C. Layman;
Augusta, GI, United States
Chair: Karin Writzl
Room: Yellow 1+2
E11.1 The ageing process
Jan Hoeijmakers;
Rotterdam, The Netherlands
E11.2 Treatment strategies for premature ageing
Brian K. Kennedy;
Singapore, Singapore
10:00 – 10:30 hrs | Coffee Break, Exhibition, Poster Viewing
10:15 – 11:15 hrs | Poster Viewing with Authors – Group C
11:15-12:45 hrs | Corporate Satellites
11:15-12:45 hrs | Lunch Break, Exhibition, Poster Viewing
13:00 – 14:30 hrs | Concurrent Sessions C13-C18
Chair: Philippos Patsalis, Antonio Novelli
Room: Gold Room
C13.1 Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studies
Marjan M. Weiss, R.H. Galjaard, E.A. Sistermans, C.J. Bax, M.N. Bekker, C.E.M. de Die-Smulders, I. Feenstra, M.J.V. Hoffer, N.S. den Hollander, M.F.C.M. Knapen, I.M. van Langen, K.D. Lichtenbelt, P.M. Lombardi, M.C. van Maarle, K.R.M. van der Meij, M.J. Pieters, G.H. Schuring-Blom, E. Sikkel, S.J. Stevens, R.F. Suijkerbuijk, A.J.E.M. van der Ven, D. Van Opstal, L. Henneman, M.V. Macville, Dutch NIPT Consortium;
Amsterdam, Netherlands
C13.2 Rapid Prenatal Diagnosis through Targeted Exome Sequencing: A Cohort study
Francesca Faravelli, N. Chandler, S. Best, J. Hayward, S. Mansour, E. Kivuva, D. Tapon, A. Male, C. DeVile, L. Chitty;
London, United Kingdom
C13.3 Temporal dynamics of placental gene expression
Mario Reiman*, S. Sõber, M. Laan;
Tartu, Estonia
C13.4 Assessing the landscape of selfish de novo mutations in human testes
Geoffrey J. Maher, H.K. Ralph, Z. Ding, N. Koelling, H. Mlcochova, E. Giannoulatou, P. Dhami, G. McVean, A.O.M. Wilkie, A. Goriely;
Oxford, United Kingdom
C13.5 X-chromosome exome sequencing in highly selected idiopathic azoospermic patients: identification of novel and recurrent genetic factors for early spermatogenic failure
Antoni Riera-Escamilla*, D. Moreno-Mendoza, L. Nagirnaja, J. Rusch, E. Ruiz-Castañé, E. Ars, D.F. Conrad, C. Krausz;
Barcelona, Spain
C13.6 Dysfunctional SEMA3G signalling underlies familiar hypogonadotropic hypogonadism & defective GnRH neuron migration
Anna Cariboni, A. Lettieri, R. Oleari, S. Tahir, K. Hussain;
Milan, Italy
Chair: Reiner A. Veitia, Judith Grollemann
Room: Auditorium
C14.1 Tet1 and Tdg suppress intestinal tumorigenesis by downregulating the inflammatory and immune responses in the ApcMinmouse model
Rossella Tricarico, J. Madzo, G. Scher, J. Jelinek, J. Ingram, I. Peshkova, W. Chang, E. Nicolas, Y. Zhou, K. Devarajan, S. Maegawa, V. Doneddu, L. Bagella, H. Cooper, S. Balachandran, M. Clapper, S. Grivennikov, E. Koltsova, J. Issa, A. Bellacosa;
Philadelphia, United States
C14.2 Lynch syndrome families with heritable constitutional epimutation reveal the diversity of genetic events associated with methylation of MLH1 promoter
Julie Leclerc, C. Flament, T. Lovecchio, L. Delattre, E. Ait Yahya, S. Baert-Desurmont, N. Burnichon, M. Bronner, O. Cabaret, S. Lejeune, R. Guimbaud, G. Morin, J. Mauillon, P. Jonveaux, P. Laurent-Puig, T. Frébourg, N. Porchet, M. Buisine;
Lille, France
C14.3 Oxidative modification of cell-free DNA fragments promotes their penetration into stem and cancer cells and activates adaptive response
Vasilina Sergeeva*, E. Malinovskaya, V. Veiko, E. Ershova, L. Kameneva, M. Konkova, N. Veiko, A. Kalyanov, M. Abramova, E. Savinova, S. Kostyuk;
Moscow, Russian Federation
C14.4 Accurate functional classification of thousands of BRCA1 variants with saturation genome editing
Gregory M. Findlay*, R. Daza, B.K. Martin, M.D. Zhang, A.P. Leith, M. Gasperini, J.D. Janizek, L.M. Starita, J. Shendure;
Seattle, United States
C14.5 A whole-exome case-control study of soft-tissue sarcoma
F. Hu, Y. Yu, J. Chen, P. Scheet, Chad D. Huff;
Houston, United States
C14.6 Rare variants in the Aicardi-Goutières syndrome genes ADAR and RNASEH2B and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis
F. Brand, U. Beyer, H. Martens, J. Weder, A. Christians, N. Elyan, B. Hentschel, M. Westphal, G. Schackert, T. Pietsch, B. Hong, J.K. Krauss, A. Samii, P. Raab, A. Das, C.A. Dumitru, I.E. Sandalcioglu, O.W. Hakenberg, A. Erbersdobler, U. Lehmann, G. Reifenberger, M. Weller, M.A.M. Reijns, M. Preller, B. Wiese, C. Hartmann, Ruthild G. Weber;
Hannover, Germany
Chair: Julie McGaughran, Fiorella Gurrieri
Room: Red 1+2
C15.1 The ARID1B spectrum: From non-syndromic intellectual disability to Coffin-Siris syndrome
E.P.J. van der Sluijs, J. Clayton-Smith, Gijs W.E. Santen;
Leiden, Netherlands
C15.2 Novel gene and pathomechanism in Cornelia de Lange syndrome
Ilaria Parenti*, S. Ruiz Gil, J. Pié, T.M. Strom, R. Brouwer, F. Diab, V. Dupé, G. Gillessen-Kaesbach, E. Mulugeta, W. van IJcken, F. Ramos, E. Watrin, K.S. Wendt, F.J. Kaiser;
Lübeck, Germany
C15.3 New models for human diseases from the International Mouse Phenotyping Consortium
Pilar Cacheiro, T. Konopka, D. Smedley, A. Mallon, T. Meehan, H. Parkinson;
London, United Kingdom
C15.4 Thrombocytopenia Microcephaly Syndrome – a novel phenotype associated with ACTB mutations
S.L. Latham, N. Ehmke, P.Y.A. Reinke, M.H. Taft, M.J. Lyons, M.J. Friez, J.A. Lee, R. Hecker, M.C. Frühwald, K. Becker, T.M. Neuhann, E. Schrock, K. Sarnow, K. Grützmann, L. Gawehn, B. Klink, Andreas Rump, C. Chaponnier, R. Knöfler, D. Manstein, N. Di Donato;
Dresden, Germany
C15.5 The Genomic Autopsy Study: using genomics as an adjunct to standard autopsy to unlock the cause of complex fetal and neonatal presentations
Christopher P. Barnett, A.B. Byrne, P. Arts, J. Feng, P.S. Wang, A. Schrieber, P. Brautigan, M. Babic, W. Waters, L. Pais, S. Yu, J. Lipsett, L. Moore, N. Manton, Y. Khong, E. Luddington, E. Thompson, J. Liebelt, L. McGregor, M. Dinger, D.G. MacArthur, S. King-Smith, C. Hahn, K. Kassahn, H. Scott;
North Adelaide, Australia
C15.6 Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
S. Martinelli, O. Krumbach, Francesca Pantaleoni, S. Coppola, E. Amin, L. Pannone, K. Nouri, L. Farina, R. Dvorsky, F. Lepri, M. Buchholzer, R. Konopatzki, L. Walsh, K. Payne, M.E. Pierpont, S. Vergano, K. Langley, D. Larsen, K. Farwell, S. Tang, C. Mroske, I. Gallotta, E. Di Schiavi, M. della Monica, L. Lugli, C. Rossi, M. Seri, G. Cocchi, L. Henderson, B. Baskin, M. Alders, R. Mendoza-Londono, L. Dupuis, D. Nickerson, J. Chong, N. Meeks, K. Brown, T. Causey, M. Cho, S. Demuth, M. Digilio, B. Gelb, M. Bamshad, M. Zenker, M. Ahmadian, R. Hennekam, M. Tartaglia, G. Mirzaa;
Roma, Italy
Chair: Trine Prescott, Maria Giuseppina Miano
Room: Brown 3
C16.1 High throughput characterization of genetic effects on DNA:protein binding and gene transcription
C. Kalita, C. Brown, A. Freiman, X. Wen, Roger Pique-Regi, F. Luca;
Detroit, United States
C16.2 A pedigree-based estimate of the human germline retrotransposition rate
Julie E. Feusier*, W. Watkins, J. Thomas, L. Baird, M. Leppert, L.B. Jorde;
Salt Lake City, United States
C16.3 Multivariate analysis of immune phenotypes reveals novel genetic and context specific genetic factors for cytokine production capacity
Raul A. Aguirre-Gamboa*, O. Bakker, T. Spenkelink, U. Võsa, M. Jaeger, M. Oosting, S. Smeekens, R. Netea-Maier, R. Xavier, I. Jonkers, L. Franke, L.A.B. Joosten, S. Sanna, V. Kumar, C. Wijmenga, M. Netea, Y. Li;
Groningen, Netherlands
C16.4 Time informative markers to date ancient Skeletons
Umberto Esposito*, G. Holland, E. Elhaik;
Sheffield, United Kingdom
C16.5 A homozygous loss-of-function mutation in C17orf62 causes chronic granulomatous disease
Gudny A. Arnadottir*, G.L. Norddahl, S. Gudmundsdottir, A.B. Agustsdottir, S. Sigurdsson, B.O. Jensson, K. Bjarnadottir, F. Theodors, S. Benonisdottir, E.V. Ivarsdottir, A. Oddsson, R.P. Kristjansson, G. Sulem, G. Masson, K.B. Orvar, H. Holm, S. Bjornsson, R. Arngrimsson, D.F. Gudbjartsson, U. Thorsteinsdottir, I. Jonsdottir, A. Haraldsson, P. Sulem, K. Stefansson;
Reykjavik, Iceland
C16.6 The neurodevelopmental 16p11.2 CNVs have, as yet overlooked, mirror effect on sexual development in humans and animal models
Katrin Mannik, M. Lepamets, A. Mikhaleva, K. Lepik, Z. Kupchinsky, H. Ademi, T. Arbogast, A. Messina, S. Rotman, E. Dubruc, J. Chrast, S. Martin-Brevet, T. Laisk-Podar, The 16p11.2 European Consortium, The Simons VIP Consortium, The eQTLGen Consortium, Y. Herault, C.M. Lindgren, Z. Kutalik, J.C. Stehle, N. Katsanis, S. Nef, B. Draganski, E.E. Davis, R. Magi, A. Reymond;
Lausanne, Switzerland
Chair: Kinga Hadzsiev, Marcella Zollino
Room: Blue 1+2
C17.1 De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
Sébastien Küry, G.M. van Woerden, T. Besnard, X. Latypova, M.T. Cho, S. Sanders, H.A.F. Stessman, E.A. Sellars, J. Berg, J.L. Waugh, L.A. Robak, J.A. Bernstein, M. Deardorff, G.E. Hoganson, D.S. Johnson, T. Dabir, A. Sarkar, G. Lesca, P.A. Terhal, T.E. Prescott, D.K. Grange, A. van Haeringen, C. Lam, G. Mirzaa, K.L. Helbig, A. Afenjar, C. Nava, A. Vitobello, L. Faivre, B. Cogné, J.A. Rosenfeld, P.B. Agrawal, CAMK2A/B Consortium, S. Odent, S. Bézieau, Y. Elgersma, S. Mercier;
Nantes, France
C17.2 Rotatin mutations impair bipolar mitotic spindle formation leading to a wide spectrum of brain malformations
Laura V. Vandervore*, R. Schot, E. Kasteleijn, R. Oegema, F. Verheijen, A. Gheldof, K. Stouffs, R. Poot, W.B. Dobyns, N. Bahi-Buisson, A.C. Jansen, G. Mancini;
Brussels, Belgium
C17.3 Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autistic features or cerebellar ataxia
Xenia Latypova*, C. Guissart, T.N. Khan, P. Rollier, H. Stamberger, K. McWalter, M.T. Cho, S. Kjaergaard, S. Weckhuysen, G. Lesca, T. Besnard, K. Õunap, L. Schema, A.G. Chiocchetti, M. McDonald, J. de Bellescize, M. Vincent, H. Van Esch, S. Sattler, I. Forghani, I. Thiffault, C.M. Freitag, D. Barbouth, M. Cadieux-Dion, N.P. Saffina, L. Grote, W. Carré, C. Saunders, S. Pajusalu, A. Boland, D. Hays Karlowicz, J. Deleuze, M.H. Wojcik, R. Pressman, B. Isidor, A. Vogels, W. Van Paesschen, F. Rivier, N. Leboucq, B. Cogné, S. Sasorith, D. Sanlaville, K. Retterer, S. Odent, N. Katsanis, S. Bézieau, M. Koenig, L. Pasquier, E.E. Davis, S. Küry;
Nantes, France
C17.4 Description of novel intellectual disability genes involved in RNA metabolism
Francesca Mattioli*, B. Isidor, C. Balak, M. Benard, E. Schaefer, M. Hinckelmann-Rivas, V. Geoffroy, J. Muller, A. Lebechec, J. Deleuze, A. Boland, H. Dollfus, J. Chelly, K. Ramsey, F. Tran-Mau-Them, S. Nambot, N. Jean, A. Telegraphi, A. Boughton, C. Gamble, M. Cho, Z. Shad, E. Kaplan, R. Dineen, M. Huentelman, V. Narayanan, D. Weil, J. Mandel, A. Piton;
Illkirch, France
C17.5 OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome
Uddin Mohammed*, B.K. Unda, V. Kwan, N.T. Holzapfel, S.H. White, L. Chalil, M. Woodbury-Smith, K.H. Ho, E. Harward, N. Murtaza, B. Dave, G. Pellecchia, L. D’Abate, T. Nalpathamkalam, S. Lamoureux, J. Wei, M. Speevak, J. Stavropoulos, K.J. Hope, B.W. Doble, J. Nielsen, R. Wassman, S.W. Scherer, K.K. Singh;
Dubai, United Arab Emirates
C17.6 Abnormal Social and Cognitive Behavior is associated with Inherited Noncoding Mutations in Human Accelerated Regions (HARs)
Ryan N. Doan, T. Shin, B. Bae, B. Cubelos, C. Chang, A.A. Hossain, S. Al-Saad, N.M. Mukaddes, O. Oner, M. Al-Saffar, S. Balkhy, G.G. Gascon, M. Nieto, C.A. Walsh;
Boston, United States
Chair: Valeria Novelli, William Newman
Room: Yellow1+2
C18.1 A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt/b-catenin signaling and miRNA dysregulation
Martina Calore, A. Lorenzon, L. Vitiello, G. Poloni, G. Beffagna, E. Dazzo, R. Polishchuk, P. Sabatelli, R. Doliana, D. Carnevale, G. Lembo, P. Bonaldo, L.J. de Windt, P. Braghetta, A. Rampazzo;
Maastricht, Netherlands
C18.2 Large-scale meta-analysis of GWAS in over one million individuals identifies more than 1,000 novel independent variants associated with blood pressure
Evangelos Evangelou, H. Warren, D. Mosen-Ansorena, B. Mifsud, R. Pazoki, H. Gao, G. Ntritsos, N. Dimou, J.N. Hellwege, A. Giri, T. Esko, A. Metspalu, A.M. Hung, C.J. O’Donnell, T.L. Edwards, I. Tzoulaki, M. Barnes, L.V. Wain, P. Elliott, M. Caulfield;
Ioannina, Greece
C18.3 Whole genome sequencing improves genetic testing outcomes in hypertrophic cardiomyopathy
Richard D. Bagnall, J. Ingles, M.E. Dinger, M.J. Cowley, S. Barratt-Ross, A.E. Minoche, S. Lal, C. Turner, A. Colley, S. Rajagopalan, Y. Berman, A. Ronan, D. Fatkin, C. Semsarian;
Sydney, Australia
C18.4 Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling
Nicole Revencu, M. Amyere, R. Helaers, E. Pairet, E. Baselga, M. Cordisco, W. Chung, J. Dubois, J. Lacour, L. Martorell, J. Mazereeuw-Hautier, R. Pyeritz, D. Amor, A. Bisdorff, F. Blei, H. Bombei, A. Dompmartin, D. Brooks, J. Dupont, M. González-Enseñat, I. Frieden, M. Gerard, M. Kvarnung, A. Kwan Hanson-Kahn, L. Hudgins, C. Léauté-Labrèze, C. McCuaig, D. Metry, P. Parent, C. Paul, F. Petit, A. Phan, I. Quere, A. Salhi, A. Turner, P. Vabres, A. Vicente, O. Wargon, S. Watanabe, L. Weibel, A. Wilson, M. Willing, J. Mulliken, L. Boon, M. Vikkula;
Brussels, Belgium
C18.5 Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Melodie Aubart*, S. Gazal, P. Arnaud, L. Benarroch, M. Gross, J. Buratti, A. Boland, V. Meyer, N. Hanna, O. Milleron, C. Stheneur, H. Zouali, T. Bourgeron, I. Desguerre, M. Jacob, L. Gouya, E. Genin, J. Deleuze, G. Jondeau, C. Boileau;
Paris, France
C18.6 Nationwide study associates atrial fibrillation with titin-truncating variants
G. Ahlberg, L. Refsgaard, P.R. Lundegaard, L.S. Andreasen, M.F. Ranthe, N.S. Linscheid, J.S. Nielsen, M.S. Melbye, S. Haunsø, A. Sajadieh, S. Olesen, S. Rasmussen, A. Lundby, P.T. Ellinor, A.G. Holst, J.H. Svendsen, Morten S. Olesen;
Copenhagen, Denmark
14:30 – 15:00 hrs | Fruit Break, Exhibition, Poster Viewing
15:00-16:30 hrs | Workshops W12-W18
Organiser: Sofia Douzgou, Peter Krawitz
Room: Gold Room
The workshops will focus on but is not limited to complex cases with facial dysmorphic features and known diagnoses which are particularly educational and demonstrate new clinical information. Cases for presentation should be brought to the auditorium in the break before the workshop starts. Each presenter is asked to give a concise outline of their case and demonstrate the relevant features in a short (approximately 6 slides) PowerPoint presentation. As an additional input to the discussion we will provide and explain results from DeepGestalt (Face2Gene).
Room: Auditorium
In an exciting new experiment, 2 teams as well as the audience will test their knowledge of the ESHG, genetics and Milan, using multiple choice questions, performance acts and audience participation, in an hopefully entertaining and educative quiz.
Organiser: Nicole de Leeuw, NL, Conny van Ravenswaaij, NL
Room: Red 1+2
Programme outline:
Various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting will be discussed in this interactive session. Data including multi-, intra- and intergenic CNVs detected by either genome wide array analysis or in Whole Exome Sequencing data will be presented.
Detailed programme:
The aim of this workshop is to focus on various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting. We will talk about multi-, intra- and intergenic CNVs detected by genome wide array analysis, but also CNV detection in Whole Exome Sequencing data will be included. We will use illustrative cases from our own diagnostic laboratories to have an interactive discussion on the more challenging findings, including reduced-penetrant, recurrent CNVs and structurally rearranged chromosomal imbalances as well as patients with compound heterozygous variants in a recessive disease gene.
We will have an app-based feedback system available for this interactive session, so please bring your smart phone, tablet or laptop.
Participants are invited to send questions, comments or suggestions related to this topic by e-mail to Nicole.deLeeuw@radboudumc.nl before June 16, 2018.
Organiser: Bertram Müller-Myhsok, Cesare Furlanello
Room: Brown 3
Big data, their analysis and usage clearly has and still is growing as an area of intense discussion and development. It offers both challenges and opportunities for learning about (human) phenotypes and diseases. Data can be big in various ways, including sample size, but also in dimensionality: approaches for analysis and making sense of it all is the theme of our workshop.
To this end we will have four presentations and a short general discussion to summarize.
Rethinking Deep Learning for Omics Data – Cesare Furlanello, Fondazione Bruno Kessler, Trento, Italy
Fast GPGPU matrix manipulations enabling combinatorial multi-omics analysis in large data-sets – Beibei Jiang, Max Planck Institute of Psychiatry, Munich, Germany
From single-trait genomics to multi-omics analyses: addressing the missing data issue – Inga Prokopenko, Imperial College London, London, UK
IMI-AETIONOMY: a Big Data approach integrating data and knowledge in graph models – Martin Hofmann-Apitius, Fraunhofer Institute for Algorithms and Scientific Computing (SCAI), Sankt Augustin, Germany
Organisers: Luca Lovrecic, HR, Ales Maver, SI
Room: Blue 1+2
Although there is an increasing body of evidence that demonstrates the accuracy of next-generation sequencing, there is still no consensus on using Sanger sequencing to assure quality needed in diagnostic reporting. A short presentation on the subject will open this workshop.
Peter Bauer: “How much Sanger validation is necessary in NGS diagnostics?”
(Peter Bauer, University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany)
It is now the third year of NGS data quality external assessment scheme and presentation of results and future perspectives will be shared with workshop participants.
Sandi Deans: “Ensuring your NGS data quality – the EQA perspective”
(Sandi Deans, PhD, Scheme Director at GenQA; National Laboratory and Scientific Lead, Genomics Implementation Unit, NHS England)
Although there is little variability in the technical part of whole exome/whole genome analysis across institutions, the interpretation is becoming the major source of discrepancies between reports. Several steps can be done to minimise the negative impact of this challenge, for example a systematic approach to collection of data on patients and controls and using this information for assistance and harmonisation of variant classification. An experience from CardioDB project will be presented.
Roddy Walsh: TBA
(Roddy Walsh, Cardiovascular Biomedical Research Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK ; National Heart & Lung Institute, Imperial College London, London, UK)
One of the important pieces of the puzzle related to improving the interpretation and reporting is harmonized and routine data sharing and data exchange. Often, this might be crucial already in the report preparation stage, not only as a part of post-reporting. In Europe, many laboratories are not yet sharing data, which could be due to the additional burden of work and/or because of institutional and country policies. There are several intiatives and efforts that set out to improve this, some of which will be presented during this WS.
Christa Lese Martin: “Genomic Variant Discrepancy Resolution: ClinGen’s Efforts to Improve the Quality of Genomic Testing”
(Christa Lese Martin , PhD, FACMG, DABMGG, Professor and Director Geisinger Autism & Developmental Medicine Institute)
Organisers: Erin Haskell, UK
Room: Yellow 1+2
The Ensembl genome browser (www.ensembl.org) provides visual representations and analyses of integrated genomic data, including genes, variants, comparative genomics and gene regulation, for over 100 species. This workshop will introduce participants to a typical workflow for exploring genomic data in Ensembl that can be reused and adapted by both wet-lab scientists and clinicians alike. A brief introduction to Ensembl will be followed by hands-on demonstrations and exercises:
Workshop programme:
15:00 – Introduction to Ensembl and the Variant Effect Predictor (VEP)
15:15 – Demonstration of using the VEP webtool
15:35 – Hands on experimentation: Using Ensembl tools to identify variants of interest from a genetic screen.
15:55 – Wrap-up and take-home messages
Workshop materials, including presentation slides, screenshots from the hands-on demonstration, as well as exercises and solutions will be made available before and during the workshop. They will also remain permanently online for participants to access through our training portal: https://training.ensembl.org.
Organisers: Martina Cornel, NL, Heidi C. Howard, SE
Room: Amber 7+8
THEME: Somatic gene editing
Can rare diseases be treated with autologous stem cells that have been edited? CRISPR/Cas9 has renewed the discussion on gene editing. Will it soon be ready for the clinic? It has been described as cheap and efficient, but for whom? If genome editing-based therapies enter the market, will it be available to those who need it most? Many believe 2018 will be the year of CRISPR in human clinical trials, but the year began with caution, as many people may already be immune to it. How may somatic gene editing change the face of medicine? What is the current state of the science? What challenges presently exist? We will discuss the expectations, hopes and perspective of different stakeholders: scientists developing clinical applications, patients and regulators.
Presentations:
Kirmo Wartiovaara: Treatment of rare diseases using somatic gene editing: the current status.
Daniel Lim: Legal/regulatory aspects: What is needed to launch genome editing in the clinic?
Vence L. Bonham: Gene-Editing Clinical Trials: What The Sickle Cell Disease Community Thinks
Heidi Howard: The role of genetic health care professionals: will clinical geneticists move to treatment?
Panel discussion
15:00-16:30 hrs | Corporate Satellites
16:30 – 17:00 hrs | Coffee Break, Exhibition, Poster Viewing
16:45 – 17:45 hrs | Poster Viewing with Authors – Group D
17:45 – 19:15 hrs | Concurrent Symposia S13-S16 & Educational Sessions E12-E13
Chair: Malte Spielmann, Alessandra Renieri
Room: Gold Room
S13.1 High-resolution interrogation of functional elements in the noncoding genome
Neville Sanjana;
New York, NY, United States
S13.2 Reducing off-targets in CRISPR/Cas9 genome editing
Anna Cereseto;
Trento, Italy
S13.3 Gene Therapy for Preventing Heritable Diseases
Shoukhrat Mitalipov;
Portland, OR, United States
Chair: Thierry Voet, Silvia Russo
Room: Auditorium
S14.1 Single-cell sequencing to understand the biology of cellular heterogeneity in health and disease
Stephen Quake;
Stanford, CA, United States
S14.2 Dissecting the spatiotemporal subcellular distribution of the human proteome
Emma Lundberg;
Stockholm, Sweden
S14.3 Evolutionary selection of oncogenic mutant clones in normal epithelia
Philip Jones;
Hinxton, United Kingdom
Room: Red 1+2
S15.1 Compensatory changes genome-wide
Shamil Sunyaev;
Cambridge, MA, United States
S15.2 Non-coding repeat insertion in human disease
Isabel Silveira;
Porto, Portugal
S15.3 Deep learning approaches to denoise, impute, integrate and decode functional genomic data
Speaker to be announced;
Chair: Carla Oliveira, Andrea Riccio
Room: Yellow 1+2
S16.1 Establishing the epigenome during human development: New insights of chromatin states and regulatory networks in pluripotent stem cells
Peter Rugg-Gunn;
Cambridge, United Kingdom
S16.2 Epigenetics, aging and age-related disorders
Mario Fraga;
Oviedo, Spain
S16.3 Epigenetic and epitranscriptomic regulation of meiosis and the preimplantation embryo
Arne Klungland;
Oslo, Norway
Chair: Domenico Coviello
Room: Brown 3
E12.1 Undiagnosed Disease Program at NIH and the Undiagnosed Disease Network
William A. Gahl;
Bethesda, MD, United States
E12.2 A User Guide to Matchmaking
Helen Firth;
Cambridge, United Kingdom
Chair: Enza Maria Valente
Room: Blue 1+2
E13.1 Defects of the corpus callosum
Christel Depienne;
Paris, France
E13.2 Defects of the cerebellum
William Dobyns;
Seattle, WA, United States