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ESHG Conference 2017 ESHG Conference 2017

Welcome to the European Human Genetics Conference

May 27–30, 2017

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      • Saturday, May 27
      • Sunday, May 28
      • Monday, May 29
      • Tuesday, May 30
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      • Welcome
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      • Become an exhibitor
    • Contact
  • Programme
    • Saturday, May 27
    • Sunday, May 28
    • Monday, May 29
    • Tuesday, May 30
    • Session Type Descriptions
    • Educational Track
    • Posters
    • Conference App
    • Videos and Slides
    • Late Programme Changes
  • Speakers
    • Speaker Profiles
    • Interviews of Award Lecturers
  • Satellite Meetings
    • Corporate Satellite Meetings
    • Sponsored Session
    • Business and Ancillary Meetings
    • Non-corporate Satellites
  • Abstracts
    • Programme Planner & Abstract Search
    • Conference App
    • Young Investigator Awards and Fellowships
    • Young Investigator Award Candidates
    • Poster Award Candidates
  • My Conference
    • Welcome
    • Registration
    • Accommodation
    • Information for presenters
    • Official Events
    • General Information
    • Media & Online Policy
    • Location & Venue
    • Insider tips on exploring the conference
    • Do you need a visa?
    • Committees
    • Fellowship information
    • Keep me informed
    • Downloads
  • Sponsors
  • Exhibition
    • Become an exhibitor
  • Contact

Tuesday, May 30

Tuesday, May 30 Jerome del Picchia 2017-05-12T13:30:14+00:00
Monday

09:00 – 10:30 hrs | Plenary Session PL3

  • PL3 | Aarhus

  • PL3 | Aarhus

Plenary Session PL3 ESHG-ASHG Building Bridges Debate: Ethical and Legal Discussions – Past, Present & Future 

Moderators:  Joris Veltman, Francesca Forzano, Peter Scacheri

PL3.1 Reflecting on ethics in genetics: The past, present and future

Ruth Chadwick;
Manchester, United Kingdom

PL3.2 Going from perceptions of genetic risk to the balancing of benefits and risks

Mats Hansson;
Uppsala, Sweden

PL3.3 The Evolution of Genetic Counseling: Effectively Meeting Our Clients’ Needs

Barbara B. Biesecker;
Bethesda, United States

PL3.4 From Medical Genetics to Applied Genomics: Implications for Human Geneticists’ Core Goals and Values

Eric Juengst;
Chapel Hill, United States

10:30 – 11:00 hrs | Coffee Break

11:00 – 12:30 hrs | Concurrent Sessions C19 – C23

  • C19 | Aarhus

  • C20 | Copenhagen

  • C21 | Cannes

  • C22 | Alicante

  • C23 | Amsterdam

  • C19 | Aarhus

Concurrent Sessions C19 Diagnostic variant interpretation and quality control

Chair: André Reis, Toril Fagerheim

C19.1 The spectrum of sequence and copy-number variants in 80,000 patients: Implications for test development and validation

Stephen Lincoln, R. Truty, J. Zook, C. Huang, M. Ferber, B. Shirts, R. Garlick, M. Salit, S. Aradhya, R. Nussbaum;
San Francisco, United States

C19.2 ClinGen Sequence Variant Interpretation Work Group recommendations for ACMG-AMP guideline specification

Steven M. Harrison*, H. Rehm, M. Greenblatt, L.G. Biesecker, ClinGen Sequence Variant Interpretation Working Group;
Cambridge, United States

C19.3 ClinGen: The Clinical Genome Resource

Danielle R. Azzariti, E.R. Riggs, J.S. Berg, C.D. Bustamante, K.A.B. Goddard, M.J. Landrum, D.H. Ledbetter, C.L. Martin, S.E. Plon, E.M. Ramos, M.S. Watson, M.S. Williams, H.L. Rehm, on behalf of the Clinical Genome Resource;
Cambridge, United States

C19.4 High-resolution variant filtering empowers clinical interpretation and provides insights into variant penetrance and population-specificity

Nicola Whiffin*, E. Minikel, R. Walsh, A. O’Donnell-Luria, K. Karczewski, A.Y. Ing, P.J.R. Barton, B. Funke, S.A. Cook, D.G. MacArthur, J.S. Ware;
London, United Kingdom

C19.5 External Quality Assessment of Clinical Genetics: from pilot assessment to full EQA scheme

Conny M. van Ravenswaaij-Arts, C. van Asperen, C. Benjamin, L. Garavelli, B. Peterlin, M. Nielsen, T. De Ravel, L. Tranebjaerg, K. Usha, K. Writzl, R. Hastings;
Groningen, Netherlands

C19.6 Assessing clinical consistency among inconsistent variant classifications

Stephen Abbs, D. Moore, F. Khawaja, Z. Deans;
Cambridge, United Kingdom

  • C20 | Copenhagen

Concurrent Sessions C20 Molecular syndromology

Chair: Jill Clayton-Smith, Rocio Acuna Hidalgo

C20.1 Mutations in the cadherin-catenin complex in Blepharo-Cheilo-Dontic Syndrome

Anneke Kievit, F. Tessadori, J. Douben, I. Jordens, M. Maurice, A. Hoogeboom, R. Hennekam, S. Nampoothiri, H. Kayserili, M. Castori, M. Whiteford, C. Motter, C. Melver, M. Cunningham, A. Hing, N. Kokitsu-Nakata, S. Vendramini-Pittoli, A. Richieri-Costa, A. Baas, C. Beugem, K. Duran, M. Massink, P. Derksen, W.F.J. van IJcken, L. van Unen, F. Santos-Simarro, P. Lapunzina, V.L. Gil-da Silva Lopes, E. Lustosa-Mendes, M. Krall, A. Slavotinek, V. Martinez-Glez, J. Bakkers, K.L.I. van Gassen, A. de Klein, M.J. van den Boogaard, G. van Haaften;
Rotterdam, Netherlands

C20.2 Heterozygous loss-of-function ACTB mutations result in a novel developmental syndrome

S. Cuvertino, H. Stuart, K.E. Chandler, N.A. Roberts, R. Armstrong, L. Bernardini, S. Bhaskar, B. Callewaert, J. Clayton-Smith, C.H. Davalillo, C. Deshpande, K. Devriendt, M.C. Digilio, A. Dixit, M. Edwards, J.M. Friedman, S. Joss, B. Kerr, A.K. Lampe, R. McGowan, M.D. Medt, J. O’Sullivan, S. Odent, M.J. Parker, C. Pebrel-Richard, F. Petit, Z. Stark, S. Tinschert, P. Vasudevan, O. Villa, &.M. White, F. Zahir, The DDD study, R. Lennon, A.S. Woolf, Siddharth Banka;
Manchester, United Kingdom

C20.3 Variants in the degron motif of AFF3 cause a multi-sytem disorder with skeletal dysplasia and severe neurologic involvement

Norine Voisin*, R.E. Schnur, S. Douzgou, A.J. Tanaka, C.F. Rustad, S.M. Hiatt, E. Del Giudice, A. Mikhaleva, The DDD study, B. Yalcin, D. Donnai, N. Brunetti-Pierri, A. Reymond, W.K. Chung;
Lausanne, Switzerland

C20.4 KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis

Lucie Gueneau, R. Fish, H. Shamseddin, N. Voisin, F. Tran Mau-Them, E. Preiksaitiene, G. Monroe, F. Allias, Q. Ambosaidi, L. Ambrozaityte, L. Cimbalistiene, J. Delafontaine, N. Guex, M. Hashem, W. Kurdi, T. Pippucci, S. Pradervand, B. Roechert, P. Van Hasselt, M. Wiederkehr, C. Wright, DDD Study, I. Xenarios, G. Van Haaften, C. Shaw-Smith, E. Schindewolf, M. Neerman-Arbez, J. Chelly, V. Kucinskas, F. Alkuraya, A. Reymond;
Lausanne, Switzerland

C20.5 Heterozygous BMP2 mutations leading to haploinsufficiency cause a recognisable human syndrome comprising short stature, palatal anomalies, congenital heart disease and skeletal malformations

Tiong Y. Tan, E. Bhoj, K. Strauss, K. Brigatti, E. Puffenberger, D. Li, C.G. Gonzaga-Jauregui, P.J. Simm, B.O. Jones, M. Raabus, L. Miles, M. Ramialison, J. Kaslin, N.L. Baker, P.G. Farlie;
Parkville, Melbourne, Australia

C20.6 Reverse phenotyping of whole-genome sequencing data from patients with 22q11.2 deletions identifies an extensive catalog of broader phenotypic variability and benign variation in pathogenic disease genes

Matthew S. Hestand, B.A. Nowakowska, E. Vergaelen, W. Demaerel, J. Breckpot, D.J. Cutler, T.B. Crowley, M. Armando, N. Philip, G. Repetto, M. Schneider, S. Eliez, K. Devriendt, D.M. McDonald-McGinn, B.E. Morrow, A. Swillen, J.R. Vermeesch, International 22q11.2 Brain Behavior Consortium;
Amsterdam, Netherlands

  • C21 | Cannes

Concurrent Sessions C21 Cardiovascular disorders

Chair: Julie McGaughran, Cecilia Gunnarsson

C21.1 Inactivation of KLHL24 is associated with hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle

C. Hedberg-Oldfors, A. Abramsson, D.P.S. Osborn, O. Danielsson, A. Fazlinezhad, L. Hübbert, I. Nennesmo, K. Visuttijai, J. Bharj, E.G. Karimiani, E. Petropoulou, A. Shohreim, R.K. Banote, R. Maroofian, M. Edling, M. Taherpour, H. Zetterberg, A. Oldfors, Yalda Jamshidi;
London, United Kingdom

C21.2 Epigallocatechin-3-gallate prevents cardiac hypertrophy in a Williams-Beuren syndrome mouse model

Paula Ortiz-Romero*, G. Aranaz, L.A. Perez-Jurado, V. Campuzano;
Barcelona, Spain

C21.3 Generalized compound heterozygosity analysis highlights associated loci for coronary artery disease in genetic and exome data

M.Loretto Munoz*, M. Munz, D. Gola, L. Zeng, T. Keßler, I.R. König, H. Schunkert, J. Erdmann;
Lübeck, Germany

C21.4 Copy number variants account for at least 2% of non-syndromic cardiomyopathies

Frank Honti*, G. Beaman, M. Edwards, T. Monk, S. Wilkinson, L. Brett, S. Cook, J.S. Ware, W.G. Newman, D. Morris-Rosendahl;
London, United Kingdom

C21.5 A major beneficial effect of angiotensin II receptor blockade for preventing spontaneous aortic rupture in a new mouse model of vascular Ehlers Danlos syndrome

E. Fontaine, J. Faugeroux, I. Loisel-Ferreira, F. Vignol, A. Gianfermi, H. Nematalla, P. Bruneval, J. Hadchouel, E. Messas, Xavier Jeunemaitre;
Paris, France

C21.6 Patterns of co-occurrence of congenital heart defects follows distinct patterns

S.G. Ellesøe, C.T. Workman, P. Bouvagnet, C.A. Loffredo, K.L. McBride, R.B. Hinton, K. van Engelen, E.C. Gertsen, B.J.M. Mulder, A.V. Postma, R.H. Anderson, V.E. Hjortdal, S. Brunak, Lars A. Larsen;
Copenhagen, Denmark

  • C22 | Alicante

Concurrent Sessions C22 Systems Genetics

Chair: Ellen Heitzer, Ole Johan Borge

C22.1 Four glycaemic trait trans-ethnic genome-wide association meta-analyses using densely imputed genetic data in up to 281,416 non-diabetic individuals

Inga Prokopenko, for the Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) Investigators;
London, United Kingdom

C22.2 Expression insights into the human miRNA-mRNA interactome

Olga M. Plotnikova*, M.Y. Skoblov;
Moscow, Russian Federation

C22.3 Deconvolution of whole blood eQTLs into rare immune-subpopulations uncovers key players of immune mediated diseases

Raul Aguirre-Gamboa*, N. de Klein, D.V. Zhernakova, P. Deelen, M.J. Bonder, Z. Borek, Swertz, I. Jonkers, S. Withoff, Joosten, V. Kumar, H.J.P.M. Koenen, M. Netea, C. Wijmenga, L. Franke, Li;
Groningen, Netherlands

C22.4 Adipose cis-eQTL variants at enhancer-promoter interaction circuits regulate obesity genes

D.Z. Pan, K. Garske, A. Ko, Y. Bagat, M. Alvarez, C.K. Raulerson, J. Sinsheimer, K.L. Mohlke, M. Laakso, Paivi Pajukanta;
Los Angeles, United States

C22.5 Trans-eQTL analysis in 25,000 individuals reveals clear differences between diseases in the types and number of causally involved biological pathways

Annique Claringbould*, U. Vōsa, eQTLGen Consortium, T. Esko, L. Franke;
Groningen, Netherlands

C22.6 Men with LOY and cells without the Y chromosome – transcriptomes and functional effects studied in 6000 single cells by RNA sequencing using the 10X Chromium platform

Jonatan Halvardson, M.D. Fernow, H. Davies, C. Rasi, J.P. Dumanski, L.A. Forsberg;
Uppsala, Sweden

  • C23 | Amsterdam

Concurrent Sessions C23 Neurogenetics 2

Chair: Jens Michael Hertz, Hans Scheffer

C23.1 Complex cis-interaction is responsible for the craniofacial and neuroanatomical defects of the 4p16.1 copy number variant.

Gaëlle Hayot*, C. Bonnet, N. Katsanis, C. Golzio;
Illkirch-Graffenstaden, France

C23.2 Foxp1 is essential for sex-specific murine neonatal ultrasonic vocalization

Henning Fröhlich, R. Rafiullah, N. Schmitt, S. Abele, G.A. Rappold;
Heidelberg, Germany

C23.3 Dominant mutations in DCC cause isolated agenesis of the corpus callosum with sex specific penetrance

A.P.L. Marsh, D. Heron, T.J. Edwards, A. Quartier, A. Rastetter, C. Nava, S. Heide, B. Keren, C. Mignot, C. Garel, A. Faudet, C. Galea, G. Mcgillivray, S.A. Mandelstam, S. Odent, M. Bahlo, J. Mandel, A. Piton, A. Méneret, E. Roze, M. Moutard, T. Billette, E.H. Sherr, R.J. Leventer, L.J. Richards, P.J. Lockhart, Christel Depienne;
Illkirch, France

C23.4 WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy

Binnaz Yalcin, M. Kannan, C. Wagner, M. Ross, B. Rinaldi, P. Kretz, L. McGillewie, S. Bär, S. Minocha, C. Po, J. Chelly, J. Mandel, R. Borgatti, A. Piton, S. Collins, C. Kinnear, Y. Hérault, S. Friant, B. Loos;
Illkirch, France

C23.5 ATPase-deficient ATAD3A alters mitochondrial dynamics in hereditary spastic paraplegia

Rosa A. Woldegebriel*, H.M. Cooper, Y. Yang, E.A. Ylikallio, R. Khairullin, K. Lin, L. Euro, E. Palin, A. Wolf, R. Trokovic, P. Isohanni, S. Kaakkola, M. Auranen, T. Lönnqvist, S. Wanrooij, H. Tyynismaa;
Helsinki, Finland

C23.6 Mutation of ribosomal RNA-processing protein 7 homolog A (RRP7A) cause autosomal recessive microcephaly with intellectual disability

Muhammad Farooq, L. Lindbæk, N. Krogh, V.S. Nielsen, M. Mönnich, S. Sakthivel, C. Doganli, Y. Mang, A. Fatima, M.S. Hussain, K. Møllgård, H. Eiberg, L. Hansen, K.W. Kjær, H. Nielsen, S.M. Baig, N. Tommerup, S.T. Christensen, L.A. Larsen;
Copenhagen, Denmark

12:30 – 13:30 hrs | Lunch Break

13:30 – 14:15 hrs | Plenary Session PL4

  • PL4 | Aarhus

  • PL4 | Aarhus

Plenary Session PL4 Mendel Lecture

Chair: Christine Patch, Joris A. Veltman

PL4.1 Reading and Writing Genomes

George Church;
Boston, United States

14:15 – 15:30 hrs | Plenary Session PL5

  • PL5 | Aarhus

  • PL5 | Aarhus

Plenary Session PL5 ESHG Award Session

Chair: Christine Patch, Joris A. Veltman

PL5.1 X-chromosome structure and epigenetic dynamics during X inactivation

Edith Heard;
Paris, France

15:00 – 15:45 hrs | Plenary Session PL6 Awards Session

  • PL6 | Aarhus

  • PL6 | Aarhus

Plenary Session PL6 Awards Session

Chair: Christine Patch, Joris A. Veltman

ESHG Education Award

EJHG Awards

ESHG Young Investigator & Poster Awards

Closing Address

Monday

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