Sunday, June 17 2018-09-19T13:49:39+00:00

08:30 – 10:00 hrs | Concurrent Symposia S01-04 & Educational Sessions E06-E07

Chair: Antonio Percesepe, Sam Riedijk
Room: Gold Room

S01.1 Prospective analysis of 20,000 cases reveals that the combined use of cell-free DNA counting and size measurement improves specificity of NIPT

Rossa Chiu;
Hong Kong, Hong Kong

S01.2 Mommy and me sequencing: incidental detection of maternal abnormalities via non-invasive prenatal testing

Diana Bianchi;
Rockville, MD, United States

S01.3 Supporting informed choice for non-invasive prenatal testing in clinical practice: How well are we doing?

Celine Lewis;
London, United Kingdom

Chair: Maurizio Genuardi
Room: Auditorium

S02.1 DNA damage and non coding RNA in cancer and ageing

Fabrizio d’Adda di Fagana;
Milan, Italy

S02.2 Differential DNA repair across human chromosomes shapes somatic mutation landscapes

Fran Supek;
Barcelona, Spain

S02.3 Functional Cancer Genetics

René Bernards;
Amsterdam, The Netherlands

Chair: Alexandre Reymond, Giorgio Casari
Room: Red 1+2

S03.1 Genome architecture: mechanisms of 3D chromatin folding

Ana Pombo;
Berlin, Germany

S03.2 The Dynamics of 3D Chromatin Structures Influence Transcription and Morphogenesis

Guillaume Andrey;
Lausanne, Switzerland

S03.3 Transgenerational inheritance: The role of CTCF and 3D genome organization

Victor Corces;
Atlanta, GA, United States

Chair: Maria Jesus Sobrido, Giorgia Girotto
Room: Yellow 1+2

S04.1 Molecular links between migraine, vestibulopathies and episodic ataxias

Joanna Jen;
Los Angeles, CA, United States

S04.2 Genetic basis of Meniere’s disease

José Antonio López-Escámez;
Granada, Spain

S04.3 An approach to restoring vestibular function?

Andrew Forge;
London, United Kingdom

Chair: Martin Kircher
Room: Brown 3

E06.1 The Importance of Reproducible Research in High-Throughput Biology

Keith Baggerly;
Austin, TX, United States

E06.2 Statistics in genetic diagnostics

Chloé-Agathe Azencott;
Paris, France

Chair: Francesca Forzano
Room: Blue 1+2

E07.1 Applications scenarios of Organoids

Andrea Manfrin;
Lausanne, Switzerland

E07.2 On the self-engineering of embryonic stem cells

Alfonso Martinez-Arias;
Cambridge, United Kingdom

10:00 – 10:30 hrs | Coffee Break, Exhibition, Poster Viewing

10:15 – 11:15 hrs | Poster Viewing with Authors – Group A

11:15-12:45 hrs | Corporate Satellites

More information

11:15-12:45 hrs | Lunch Break, Exhibition, Poster Viewing

13:00 – 14:30 hrs | Concurrent Sessions C07-C12

Chair: Julie McGaughran, Maria Iascone
Room: Gold Room

C07.1 Reanalysis of unsolved WGS clinical cases from the NIHs undiagnosed diseases network (UDN)

Elizabeth A. worthey, D. Brown, C. Birch, M. Gajapathy, L. Handley, M. Holt, N. Sosonkina, B. Wilk, M. Wilk, J. Lazar, M. Schroeder, D. Bick, H. Jacob, M. Members of the Undiagnosed Disease Network;
huntsville, United States

C07.2 Finding missing diagnoses in exome sequence data

Caroline F. Wright, J. McRae, G. Gallone, S. Aitken, E. Prigmore, D. Rajan, M. Hurles, D. FitzPatrick, H. Firth, DDD Study;
Exeter, United Kingdom

C07.3 Inferring compound heterozygotes from large-scale exome sequencing data

Laurent C. Francioli*, M.H. Guo, K.J. Karczewski, B.B. Cummings, M. Lek, V. Thaker, M.J. Daly, J.J. Hirschhorn, D.G. MacArthur;
Boston, United States

C07.4 Next Generation Children Project: Whole genome sequencing for rapid diagnosis of severely ill children in intensive care

Courtney E. French*, A. Sanchis-Juan, I. Delon, H. Dolling, E. Dewhurst, S. Agrawal, T. Austin, R. Armstrong, G. Belteki, M. Bohatschek, S. Bowdin, R.G. Branco, S. Broster, A. D’Amore, R. Chaudhary, C. Costa, H. Firth, J. Hague, J. Harley, R. Kayani, W. Kelsall, S. Mehta, R. O’Donnell, A. Ogilvy-Stuart, S. Park, M. Prapa, A. Sammut, K. Schon, K. Spike, A. Taylor Tavares, D. Wari-Pepple, C.G. Woods, .. NIHR BioResource – Rare Diseases, S. Abbs, D. Rowitch, F.L. Raymond;
Cambridge, United Kingdom

C07.5 Rapid Whole Genome Sequencing Improves Clinical Utility and Cost Effectiveness of Acutely Ill Children admitted to Neonatal Intensive Care Units

Shareef Nahas, S. Chowdhury, D. Dimmock, S. Kingsmore;
San Diego, United States

C07.6 Experiences of the Dutch diagnostic data share consortium; limits of the current 5-tier classification system

Marielle E. van Gijn, J. Laros, M.A. Swertz, VKGL data sharing consortium;
Utrecht, Netherlands

Chair: Inga Prokopenko, Alberto Piazza
Room: Auditorium

C08.1 Genome-wide gene-based analyses identifies ANK1 as a modulator of weight loss in obese patients

Armand Valsesia, Q. Wang, N. Gheldof, J. Carayol, V. Shenton, G. Lefebvre, S. Metairon, C. Chabert, O. Walter, P. Mironova, P. Lau, N. Viguerie, D. Langin, P. Descombes, M. Harper, G. Neely, A. Astrup, W. Saris, R. Dent, J. Hager;
Lausanne, Switzerland

C08.2 Insights from the largest genetic study of sexual orientation

Andrea Ganna*, G. Beecham, F. Day, E. Martin, R. Meier, B. Neale, M. Nivard, J. Perry, A. Sanders, K. Verweij, R. Wedow, B. Zietsch;
Cambridge, United States

C08.3 Genome-wide association of bone mineral density in the UK Biobank full release identifies 301 novel loci and implicates DAAM2 in osteoporosis

John A. Morris*, GEFOS Consortium;
Montreal, Canada

C08.4 Low pass genomes of 141,431 Chinese reveal patterns of viral infection, novel phenotypic associations, and the genetic history of China

Siyang Liu, S. Huang, F. Chen, L. Zhao, Y. Yuan, S.S. Francis, L. Fang, Z. Li, L. Lin, R. Liu, Y. Zhang, H. Xu, S. Li, Y. Zhou, Q. Liu, R.G. Walters, K. Lin, J. Ju, T. Korneliussen, M.A. Yang, Q. Fu, J. Wang, L. Zhou, A. Krogh, H. Zhang, W. Wang, Z. Chen, Y. Yin, H. Yang, M. Mao, J. Shendure, J. Wang, A. Albrechtsen, X. Jin, R. Nielsen, X. Xu;
City TBA, China

C08.5 Imputation and de novo variant discovery from low-pass whole genome sequencing data for cost-effective and scalable trait mapping

Joseph Pickrell, T. Berisa, K. Wasik, D. Fraser, C. Cox;
New York, United States

C08.6 Prioritising genes of interest from whole genome sequences to maximise diagnostic yield; the experience of the 100,000 genomes project

Helen K. Brittain, E.R.A. Thomas, A. Tucci, E. Baple, E.M. McDonagh, A. Rueda-Martin, L. Daugherty, R. Foulger, S. Leigh, O. Niblock, E. Williams, A. Rendon, M.J. Caulfield, R.H. Scott, D. Smedley;
London, United Kingdom

Chair: André Reis, Giuseppe Merla
Room: Red 1+2

C09.1 Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome

Georgia Vasileiou, S. Vergarajauregui, S. Endele, B. Popp, C. Büttner, A.B. Ekici, M. Gerard, N.C. Bramswig, B. Albrecht, J. Clayton-Smith, J. Morton, S. Tomkins, K. Low, A. Weber, M. Wenzel, J. Altmüller, Y. Li, B. Wollnik, G. Hoganson, M. Plona, M.T. Cho, Deciphering Developmental Disorders Study, C.T. Thiel, H. Lüdecke, T.M. Strom, E. Calpena, A.O.M. Wilkie, D. Wieczorek, F.B. Engel, A. Reis;
Erlangen, Germany

C09.2 Novel neurodevelopmental syndrome due to de novo mutations in chromatin remodeler CHD3 in 35 patients

Lot Snijders Blok*, J. Rousseau, J. Twist, S. Ehresmann, H. Venselaar, M. Takaku, J.D. Roberts, R.M. Petrovich, R. Pfundt, P. Deriziotis, T. Kleefstra, H.G. Brunner, P.A. Wade, S.E. Fisher, P.M. Campeau;
Nijmegen, Netherlands

C09.3 Germline mutations on the histone H4 core cause a developmental syndrome by affecting DNA damage response and cell cycle control

F. Tessadori, J. Giltay, J. Hurst, M. Massink, K. Duran, H.R. Vos, R.M. van Es, the DDD study, R. Scott, K. van Gassen, J. Bakkers, Gijs van Haaften;
Utrecht, Netherlands

C09.4 Examination of the landscape of histone lysine methylases and demethylases in human developmental disorders leads to identification of novel syndromes

Víctor Faundes*, W.G. Newman, L. Bernardini, N. Canham, J. Clayton-Smith, B. Dallapiccola, S.J. Davies, M.K. Demos, A. Goldman, H. Gill, R. Horton, B. Kerr, D. Kumar, A. Lehman, S. McKee, J. Morton, M.J. Parker, J. Rankin, L. Robertson, I.K. Temple, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study, The Deciphering Developmental Disorders (DDD) Study, S. Banka;
Manchester, United Kingdom

C09.5 De novo germline variants in Histone 3 Family 3A (H3F3A) and Histone 3 Family 3B (H3F3B) associated with a severe neurodegenerative disorder with unique functional effect different from somatic mutations

Elizabeth J. Bhoj;
Philadelphia, United States

C09.6 De novo mutations in the SET nuclear proto-oncogene (SET), encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with non-syndromic intellectual disability (ID)

Servi J.C. Stevens, V. van der Schoot, M.S. Leduc, T. Rinne, S.R. Lalani, M.M. Weiss, J.M. van Hagen, A.A.M. Lachmeijer, S.G. Stockler-Ipsiroglu, A. Lehman, H.G. Brunner;
Maastricht, Netherlands

Chair: Carla Oliveira, Joris Veltman
Room: Brown 3

P15.05A Comprehensive prediction of responses to chemotherapies by biochemically-inspired machine learning

Peter K. Rogan, E.J. Mucaki, J.Z.L. Zhao, J.H.M. Knoll;
London, Canada

P15.27C Establishment of tumor-derived organoids: an approach to personalized medicine

María Ovejero-Sánchez, J. Fernández-Mateos, P. Vázquez-Cárdenas, R. González-Sarmiento;
Salamanca, Spain

P15.03C Correction of splice mutation in COL6A1 gene with novel antisense oligonucleotides as prototype for other orphan geneticdiseases

Dina Yagel*, Y. Anikster, A. Veber, M. Shohat;
Ramat Gan, Israel

P15.11C Modulation of cGMP and cAMP as a new therapeutic target for Fragile X Syndrome

Barbara Bardoni, V. Trezza, S. Martin, P. Vincent, L. Ciranna, M. Jarjat, S. Delhaye, S. Castagnola, F. Melancia, T. Maurin;
Valbonne, France

P15.41A 800 exomes for rare disease research: outcomes of the transnational BBMRI-LPC WES call in collaboration with EuroBioBank and RD-Connect

Steven Laurie, S. Beltran, M. Bayes, B. Fuste, M. Gut, L. Matalonga, D. Piscia, J. Dawson, R. Thompson, E. López-Martín, M. Posada, L. Monaco, C. Wang, G. B. van Ommen, S. Sims, E. Zeggini, H. Löchmuller, I. Gut, BBMRI-LPC consortium;
Barcelona, Spain

P17.06B Inhibition of histone deacetylation up-regulates the repressed paternal allele of the imprinted Kcnk9 gene and improves the behavioral phenotype of a mouse model of Birk-Barel syndrome

Alexis Cooper*, S. Jagannath, T. Butto, M. Linke, F. Lesage, K. Radyushkin, J. Roeper, S. Schweiger, U. Zechner;
Mainz, Germany

P11.017A Efficient CrispR/Cas9-based nucleotide editing to model cardiovascular anomalies of Cantú syndrome in zebrafish

Helen l. Roessler*

P17.58B A CTCF- dependent chromatin interaction ensures robust enhancer – promoter communication at the Shh locus

Christina Paliou*, P. Guckelberger, I. Jerković, V. Heinrich, S. Haas, S. Mundlos, G. Andrey;
Berlin, Germany

P17.22B chromatin landscape of D4Z4 repeat interactome unveils a muscle atrophy signature in facioscapulohumeral dystrophy

Alice Cortesi*, M. Pesant, S. Sinha, F. Gregoretti, L. Antonelli, G. Oliva, G. Soldà, B. Bodega;
Milan, Italy

P18.34B Genetic landscape of kidney function: results from a trans-ethnic genome-wide association meta-analysis of >750,000 individuals.

Cristian Pattaro, CKDGen Consortium;
Bolzano, Italy

P18.12D Multi-phenotype genome-wide meta-analysis of lipid levels and BMI in 64,736 Europeans suggests shared genetic architecture

Marika Kaakinen, R. Mägi, V. Lagou, A. Claringbould, K. Gaulton, BIOS consortium, K. Fischer, A.P. Morris, I. Prokopenko;
London, United Kingdom

P18.25A The eQTLs Catalog and LinDA browser: a platform for prioritising target genes of GWAS variants

Stefano Onano*, F. Cucca, M. Pala;
Sassari, Italy

P18.48D Predicting rare allele carriers from genotyping-array data using whole genome sequencing data in the Estonian population

Timo Tõnis Sikka*, M. Palover, T. Nikopensius, M. Alver, M. Nelis, A. Metspalu, N. Tõnisson, T. Esko;
Tartu, Estonia

P18.77A Deletions at 63 GWAS catalog loci based on genome-wide 1000 Genomes project CNV-tagging SNPs

Elena Loizidou*, E. Bellos, L. Coin, M. Johnson, I. Prokopenko;
London, United Kingdom

Chair: Milan Macek, Nicola Brunetti-Pierri
Room: Blue 1+2

C11.1 De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise (Fontaine syndrome)

Karin Writzl, A. Maver, L. Kovačič, P. Martinez-Valero, L. Contreras, J. Satrustegui, M. Castori, L. Faivre, P. Lapunzina, A.B.P. van Kuilenburg, S. Radović, C. Thauvin, B. Peterlin, A. del Arco, R.C. Hennekam;
Ljubljana, Slovenia

C11.2 miR-181a and miR-181b Downregulation Protects From Mitochondria-associated Neurodegeneration by enhancing mitochondrial biogenesis and mitophagy

Sabrina Carrella, A. Indrieri, A. Romano, F. Golia, M. Pizzo, R. Tammaro, E. Marroco, N. Giordano, A. Carboncino, A. Spaziano, L. Ciampi, J. Henao-Mejia, A. Williams, R. Flavell, S. Banfi, B. Franco;
Pozzuoli, Italy

C11.3 The genetic landscape of mitochondrial disease: a study of 1116 exomes

Sarah L. Stenton*, B. Alhaddad, C. Chang, T. Haack, S. Wortmann, J.A. Mayr, B. Büchner, M. Hempel, F. Distelmaier, P. Freisinger, C. Makowski, D. Rokicki, R. Taylor, K. Murayama, D. Ghezzi, C. Lamperti, A. Rötig, T. Strom, T. Klopstock, T. Meitinger, H. Prokisch;
München, Germany

C11.4 Novel genes associated with severe mitochondrial disorders

Paramasivam Arumugam*, M. Angamuthu K., S. Gampa, V. Challa, T. Kumarasamy;
Hyderabad, India

C11.5 A homozygous two exon deletion in UQCRH: matching mouse and human phenotype

Silvia Vidali*, J. Urquhart, J. Rozman, K. Thompson, C. Sanders, E. Jamson, C. Breen, B. Rathkolb, P. da Silva-Buttkus, S. Marschall, O.V. Amarie, J. Aguilar-Pimentel, J. Calzada-Wack, L. Becker, Y. Cho, L. Garrett, S.M. Hölter, T. Klein-Rodewald, P. Mayer-Kuckuk, I. Treise, A. Zimprich, K. Gampe, S. Leuchtenberger, K. Pfannes, C. Stöger, H. Maier, J. Graw, W. Wurst, K. Höfig, R.G. Feichtinger, U. Gärtner, M. Szibor, I. Wittig, J.A. Mayr, W. Newman, H. Fuchs, R.W. Taylor, V. Gailus-Durner, H. Prokisch, M. Hrabě de Angelis;
Munich, Germany

C11.6 Mutations in phosphopantothenoylcysteine synthetase (PPCS) cause dilated cardiomyopathy

Arcangela Iuso, M. Wiersma, H.J. Schüller, B. Pode-Shakked, D. Marek-Yagel, T.B. Haack, T. Meitinger, H. Prokisch, D. Haas, O.C.M. Sibon, Y. Anikster;
Munich, Germany

Chair: Marta Bertoli, Marco Castori
Room: Yellow 1+2

Yellow 1+2

Session Time: Sunday, June 17, 2018 1:00:00 PM – 2:30:00 PM

C12.1 Functional analysis of large numbers of non-coding variants from WGS studies by massively parallel cis-regulatory assays.

Malte Spielmann, M. Kircher, B. Kragsteen, M. Mensa, R. Flöttmann, M. van de Vorst, L. Wiel, J. Veltman, S. Mundlos, C. Gilissen, J. Shendure;
Seattle, United States

C12.2 Identification of somatic activating PIK3CA mutations in patients with generalized lymphatic anomaly

Lara Rodriguez Laguna, N. Agra, K. Ibañez, G. Oliva-Molina, G. Gordo, N. Khurana, D. Hominick, G. Herranz, J. Torres Canizalez, R. Rodriguez Pena, E. Vallespín, R. Martín-Arenas, Á. del Pozo, C. Villaverde, A. Bustamante, C. Ayuso, P. Lapunzina, J. Lopez-Gutierrez, M. Dellinger, V. Martinez-Glez;
Madrid, Spain

C12.3 A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore Pottie, P. Sips, P. Coucke, B. Callewaert;
Gent, Belgium

C12.4 Recessive spondylocarpotarsal syndrome due to compound heterozygosity for variants in MYH3

Stephen P. Robertson, S. Cameron-Christie, C.F. Wells, M. Simon, M. Wessels, C.Z.N. Tang, W. Wei, R. Takei, C. Aarts-Tesselaar, S. Sandaradura, D.O. Sillence, M. Cordier, H.E. Veenstra-Knol, E. Trevisson, D.M. Markie, Z.A. Jenkins;
Dunedin, New Zealand

C12.5 Mutations in the Epithelial Cadherin p120 Catenin ComplexCause Mendelian Non-Syndromic Cleft Lip and Palate

Tony Roscioli, L.L. Cox, T.C. Cox, L.M. Moreno Uribe, Y. Zhu, C.T. Richter, N. Nidey, J.M. Standley, M. Deng, E. Blue, J.X. Chong, Y. Yang, R.P. Carstens, D. Anand, S.A. Lachke, J.D. Smith, M.O. Dorschner, E. Kirk, A.V. Hing, H. Venselaar, L. Consuelo Valencia Ramirez, M.J. Bamshad, I.A. Glass, J.A. Cooper, E. Haan, D.A. Nickerson, H. van Bokhoven, H. Zhou, K. Krahn, M.F. Buckley, J.C. Murray, A.C. Lidral;
Randwick, Australia

C12.6 Somatic activating mutations in MAP2K1 cause melorheostosis

Heeseog Kang, S. Jha, Z. Deng, N. Fratzl-Zelman, W.A. Cabral, A. Ivovic, F. Meylan, E.P. Hanson, E. Lange, J. Katz, P. Roschger, K. Klaushofer, E.W. Cowen, R.M. Siegel, T. Bhattacharyya, J.C. Marini;
Bethesda, United States

14:30 – 15:00 hrs | Fruit Break, Exhibition, Poster Viewing

15:00-16:30 hrs | Workshops W05-W11

Organiser: Jill Clayton-Smith, UK, Dian Donnai, UK,  Sofia Douzgou, UK

Room: Gold Room

Once again we invite those working in the field of syndrome diagnosis to bring along short slide presentations of their distinctive unsolved cases or instructive and solved cases to the Dysmorphology workshop to be held at the ESHG in Milan. Presentations should include no more than 6 slides and you should aim to present your case in 3 minutes. leaving some time for discussion. Your slides should cover the main points of the history, include good quality clinical photos of the most distinctive features and  give results of investigations previously undertaken. Although we don’t necessarily expect every patient to have had whole exome or genome sequencing, cases must have undergone a reasonable investigative work-up before presenting.

We also welcome “solved” cases that you may have presented as unknowns at the ESHG in previous year and where you now have an answer. These are very interesting for the audience.

Please bring your presentations on a memory stick to the lecture theatre thirty minutes before the session begins to book your place from presentation. We look forward to seeing you.

Organiser: Vita Dolzan, SI, William Newman, UK
Room: Auditorium

This workshop will explore the resources available to scientists and healthcare professionals to select genes that have clinical relevance in predicting adverse drug reactions and drug efficacy (pharmacogenomics).  There are varying levels of evidence that support clinical utility and these will be presented and examined. How confident should we be in a drug-gene relationship before we offer this as a clinical test?

There are many approaches to providing clinical pharmacogenetic testing – by panels, extracted from exome or genome sequence data or by biochemical assays. We will consider the current optimum approaches and how this may develop in the future.

Organisers: Christian Gilissen, NL, Malte Spielmann, US

Room: Red 1+2

Although exome sequencing is now routinely available both for research and clinical purposes, the interpretation of identified variants remains a major challenge. In this workshop we will address the technical, statistical and biological considerations that need to be taken into account when interpreting variants from exome sequencing, and illustrate their importance by real-life examples.


15.00 – 15.05    Welcome and opening remarks (Malte Spielmann)

15.05 – 15.25    Technical considerations for interpreting variants (Christian Gilissen)

15.25 – 15.45    Statistical considerations for interpreting variants (Hilary Martin)

15.45 – 16.05    Cases from the clinic – 1 (Anita Rauch)

16.05 – 16.25    Cases from the clinic – 2 (Helger Yntema)

16.25 – 16.30    Closing remarks (Malte Spielmann)

Organisers: Robert Kuhn, US

Room: Brown 3

The UCSC Genome Browser has been used by researchers in genomics for 18 years.  During that time it has evolved — mainly by adding new features and the occasional mild overhaul.

Our latest enhancements include features relevant to those interested in RNA-seq data — either their own or those from the GTEx Consortium.  The Browser offers the option of viewing exons only — useful in both RNA-seq and whole-exome sequencing.  The GTEx data are available as a direct view of tissue-specific and allele-specific expression across the entire genome from 53 tissues from 570 donors.  It is also possible to format your own data into this barChart format.

The newly released Collection Builder allows the combining of datasets from multiple sources — including your own — into a single “container” for operations such as jointly adjusting visibility parameters, overlapping display on the same axes or addition/subtraction of multiple datasets.  The latter feature is useful for comparing gene expression from a treatment vs a control or tumor vs somatic tissue.

Attendees are encouraged to bring their own laptops to follow along.  Previous experience with the Browser would be useful.

Organisers: Ida Vogel, DK, Joris Vermeesch, BE

Room: Blue 1+2

Presentations last 12 minutes and 3 minutes for questions. The last 30 minutes of the session will be an interactive session on prenatal diagnostics of tomorrow with the audience and the speakers (consisting of an obstetrician, a molecular biologist, an anthropologist and lastly a clinical geneticist)


Genetic Associations with Gestational Duration and Spontaneous Preterm Birth


The diagnostic effect of the introduction of NIPT in a laboratory where a routine SNP array is offered to all pregnancies undergoing invasive testing
M.I. Srebniak

‘…but we found something else’. A qualitative study of the interaction between pregnant couples and clinical geneticists following a susceptibility variance result. S.Lou

Fetal cells in maternal blood


30 min panel discussion on prenatal diagnostics of tomorrow

Organisers: Laura Valle, ES, Nicoline Hoogerbrugge, NL, Conxi Lazaro, ES

Room: Yellow 1+2

15:00   Introduction by the chairwomen

15:05   Germline or somatic tumour testing first to detect hereditary cancer?

Prof. Marjolijn Ligtenberg, PhD, Molecular geneticist

15:20     Interactive discussion with workshop participants using smartphone voting system

15:30     Genetic counselling: when somatic tumour testing and germline mutations meet. 

Prof. Rolf Sijmons, MD, PhD, Clinical geneticist

15:45     Interactive discussion with workshop participants using smartphone voting system

16:00     Research gaps in hereditary cancer: what to address in the years to come.

Sir Prof. John Burn, MD, PhD, Clinical geneticist

16:15     Interactive discussion with workshop participants using smartphone voting system

16.25   Concluding remarks

Organisers: Elisabetta Razzaboni, IT,  Francesca Forzano, UK

Room: Amber 7+8

Prof. Peter Turnpenny – EU survey on recontacting and EU recommendations on recontacting

Prof. Deborah Mascalzoni – Recontacting in research practice and in Biobanks
Prof. Emmanuelle Rial-Sebbag – Legal aspects of recontacting 

15:00-16:30 hrs | Corporate Satellites

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16:30 – 17:00 hrs | Coffee Break, Exhibition, Poster Viewing

16:45 – 17:45 hrs | Poster Viewing with Authors – Group B

17:45 – 19:15 hrs | Concurrent Symposia S05-08 & Educational Sessions E08-E09

Chair: Samuli Ripatti, Giuseppe Matullo
Room: Gold Room

S05.1 Genetic discovery and translation in Inflammatory Bowel Disease

Mark Daly;
Boston, MA, United States

S05.2 Large-scale sequencing studies in coronary artery disease

Heribert Schunkert;
Munich, Germany

S05.3 Harnessing large-scale genetics and genomics to derive biological insights in type 2 diabetes

Mark McCarthy;
Oxford, United Kingdom

Chair: Jose L. Costa, Paola Ghiorzo
Room: Auditorium

S06.1 Tracking the Evolution of Non–Small-Cell Lung Cancer

Thomas Wurdinger;
London, United Kingdom

S06.2 Whole-genome sequencing of plasma DNA

Michael Speicher;
Graz, Austria

S06.3 Liquid Biopsies for Monitoring Temporal Genomic Heterogeneity

Giulia Siravegna;
Torino, Italy

Chair: Enza Maria Valente, Paolo Gasparini
Room: Red 1+2

S07.1 Drug repurposing to improve cognitive defects in Down syndrome

Laura Cancedda;
Genova, Italy

S07.2 Drug repurposing for breast cancer prevention in BRCA1-mutation carriers

Emma Nolan;
London, United Kingdom

S07.3 Treating spinocerebellar ataxias with antibiotics

Giorgi Casari;
Naples, Italy

Chair: Malte Spielmann, Valeria Capra
Room: Brown 3

S08.1 Natural selection in humans and pathogens: sequencing the next deadly virus

Kristian Andersen;
La Jolla, CA, United States

S08.2 Sequencing Ebola and Zika in real time

Nicholas Loman;
Birmingham, United Kingdom

S08.3 Whole-genome sequencing of pathogens in the clinic

Judith Breuer;
London, United Kingdom

Chair: Maria Jesus Sobrido
Room: Blue 1+2

E08.1 Etiology of vascular malformations: A question of place and timing

Miikka Vikkula;
Brussels, Belgium

E08.2 Clinical management of vascular malformations

Laurence Boon;
Brussels, Belgium

Chair: Yanick Crow
Room: Yellow 1+2

E09.1 NBIA – an overview

Belén Perez Dueñas;
Barcelona, Spain

E09.2 NBIA – new angles

Agnès Rötig;
Paris, France

19:15-20:45 hrs | Corporate Satellites

More information

19:30 – 20:30hrs | ESHG Membership Meeting

Room Yellow 1+2