Live Sessions
Please note that all times below refer to Central European Summer Time
08:30 – 10:00 hrs | Concurrent Sessions C22-C26 from submitted abstracts
Moderators: Serenea Nik-Zainal, Valerie Cormier-Daire
C22.1 Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome
Katherine Wood*, J. Ellingford, H. Thomas, Genomics England Research Consortium, S. Douzgou, G. Beaman, E. Hobson, K. Prescott, R. O’Keefe, W. Newman;
Manchester, United Kingdom
C22.2 Mesenchymal enhancer adoption at the ARHGAP36 locus causes connective tissue to bone transformation
Uira Melo, J. Jatzlau, C. Prada, S. Ali, R. Schöpflin, M. Klever, P. Vallecillo-Garcia, M. Ort, M. Schwestka, E. Flex, M. Delledonne, G.B. Ferrero, G. Carperntieri, M. Tartaglia, A. Brusco, S. Stricker, M. Gossen, S. Geißler, L. Bernardini, A. Ciolfi, P. Knaus, S. Mundlos, E. Giorgio, M. Spielmann;
Berlin, Germany
C22.3 Pathogenic MYCN gain-of-function variants are responsible for a mirror phenotype of the Feingold syndrome, resulting in a novel megalencephaly-polydactyly-hydrocephalus syndrome
Frédéric Tran Mau-Them*, C. Quelin, Y. Duffourd, L. Mary, V. Couturier, V. Bourgeois, C. Philippe, C. Thauvin-Robinet, Y. Nishio, S. Saitoh, K. Kato;
Dijon, France
C22.4 A homozygous hypomorphic BNIP1 variant results in disproportionate short stature and skeletal dysplasia and causes an increase in autophagosomes and reduced autophagic flux
Tess Holling*, G.S. Bhavani, L. von Elsner, H.H. Shah, N. Krishna, S. Bhattacharyya, A. Shukla, G. Mortier, K. Kutsche, K.M. Girisha;
Hamburg, Germany
C22.5 WNT11 is associated to idiopathic osteoporosis by inhibiting the Wnt canonical and non-canonical pathways
Caroline Caetano da Silva*, T. Edouard, M. Ricquebourg, M. Aubert-Mucca, M. Muller, M. Fradin, J. Salles, P. Guggenbuhl, M. Cohen-Solal, C. Collet;
Paris, France
C22.6 Impact of glycosaminoglycan biosynthesis defects on the endochondral ossification in a Slc10a7-/- mouse model with skeletal dysplasia
Alessandra Guasto*, C. Huber, V. Cormier-Daire, J. Dubail;
Paris, France
Moderators: Karin Writzl, Elfride De Baere
C23.1 Biallelic TMEM72 variants in patients with nephronophthisis-like phenotype
R. Snoek, Laura R. Claus*, E.D.J. Peters, S.M.C. Savelberg, K. Duran, S.W. van der Veen, W.J. Brummelhuis, M. Rookmaaker, B. van der Zwaag, T.Q. Nguyen, R. Broekhuizen, L. Mesnard, A. Karras, O. Sadeghi-Alavijeh, D.P. Gale, Genomics England Research Consortium, M. Elferink, M.M. Oud, S. Faber, R. Roepman, F. Hildebrandt, V. Klämbt, N.V.A.M. Knoers, F. Tessadori, G.W. van Haaften, A.M. van Eerde;
Utrecht, Netherlands
C23.2 Rare variant burden influences the rate of disease progression in Polycystic Kidney Disease
Katherine A. Benson*, E. Elhassan, S. Madden, S. Murray, O. Sadeghi-Alavijeh, D. Gale, C. Kennedy, M. Griffin, L. Casserly, P. O’Hara, J. Abboud, K. Cronin, D. O’Sullivan, A. Mallawaarachchi, I. Capelli, G. LaManna, C. Graziano, R. Schönauer, J. Halbritter, G.L. Cavalleri, P. Conlon;
Dublin, Ireland
C23.3 Diagnostic yield and benefits of whole-exome sequencing in patients with congenital anomalies of the kidney and urinary tract (CAKUT) diagnosed in the first thousand days of life
Lina Werfel*, H. Martens, I. Hennies, A. Christians, A. Gjerstad, K. Fröde, B.M. Ludwikowski, R. Geffers, H. Billing, M. Kirschstein, A.D. Hofmann, A. Bjerre, D. Haffner, R.G. Weber;
Hannover, Germany
C23.4 Single cell RNA sequencing of the enteric nervous system shows selective preservation of schwann cell progenitor-like cells inretmutant zebrafish
Laura Kuil*, N. Kakiailatu, J. Windster, E. Bindels, J. Peulen-Zink, V. Melotte, R. Hofstra, M. Alves;
Rotterdam, Netherlands
C23.5 The OSMR gene is involved in Hirschsprung Associated Enterocolitis susceptibility through an altered downstream signaling
Francesca Rosamilia*, T. Bachetti, G. Santamaria, M. Bartolucci, M. Mosconi, S. Sartori, M. De Filippo, M. Di Duca, V. Obino, S. Avanzini, D. Mavilio, S. Candiani, A. Petretto, A. Pini Prato, I. Ceccherini, F. Lantieri;
Genoa, Italy
C23.6 Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3
N. Schuermans*, S. El Chehadeh, D. Hemelsoet, E. Bogaert, E. Debackere, P. Hilbert, N. Van Doninck, M. Taquet, T. Rosseel, G. De Clercq, C. Van Haverbeke, J. Chanson, B. Funalot, F. Authier, S. Kaya, W. Terryn, S. Callens, B. Depypere, J. Van Dorpe, Program for Undiagnosed Diseases (UD-PrOZA), B. Poppe, C. Depienne, B. Dermaut;
Ghent, Belgium
Moderators: Zeynep Tümer, Lars Feuk
C24.1 What is the best solution to manage failures of chromosomal structural variations detection by short-read strategy?
Caroline Schluth-Bolard, L. El-Khattabi, N. Chatron, M. Beaumont, N. Reynaud, K. Uguen, F. Diguet, P. Rollat-Farnier, C. Bardel, A. Afenjar, F. Amblard, J. Amiel, S. Christin-Maître, F. Devillard, M. Fradin, B. Isidor, S. Jaillard, D. Martin-Coignard, R. Olaso, M. Rossi, S. Valence, J. Siffroi, D. Sanlaville;
Lyon, France
C24.2 How silence shapes the brain: synonymous variants alter codon usage and translation of Sonic Hedgehog in holoprosencephaly
Artem KIM*, J. Le Douce, F. Diab, M. Ferorova, C. Dubourg, S. Odent, V. Dupe, V. David, L. Diambra, E. Watrin, M. de Tayrac;
Rennes, France
C24.3 De novo alpha satellite insertions and the evolutionary landscape of centromeres
Giuliana Giannuzzi, G. Logsdon, N. Chatron, D.E. Miller, J. Reversat, K.M. Munson, K. Hoekzema, C.A. Baker, D. Sanlaville, E.E. Eichler, C. Schluth-Bolard, A. Reymond;
Lausanne, Switzerland
C24.4 Integration of Hi-C and long-read sequencing reveals the structure of highly rearranged chromosomes in patients with germline-chromothripsis
Robert Schöpflin, U.S. Melo, H. Moeinzadeh, D. Heller, V. Heinrich, J. Herztberg, M. Robson, A. Ringel, K. Chudzik, M. Holtgrewe, N. Alavi, M. Klever, J. Jungnitsch, E. Comak, S. Türkmen, Y. Duffourd, L. Faivre, O. Zuffardi, R. Tenconi, N.E. Kurtas, S. Giglio, V. Beensen, G. Barbi, B. Prager, A. Latos-Bielenska, I. Vogel, M. Bugge, N. Tommerup, M. Spielmann, V.M. Kalscheuer, A. Vitobello, M. Vingron, S. Mundlos;
Berlin, Germany
C24.5 SNPs tagging structural variations help to reveal widespread role of CNVs in complex traits
Maarja Lepamets*, U. Võsa, R. Mägi;
Tartu, Estonia
C24.6 22q11.2 inversion in a mosaic 22q11.2 deletion patient provides insights in LCR22-mediated rearrangements
Lisanne Vervoort, G. Peeters, N. Dierckxsens, L. Dehaspe, L. Vancoillie, K. Van Den Bogaert, C. Melotte, H. Van Esch, J. Vermeesch;
Leuven, Belgium
Moderators: Vita Dolzan, Kelly Ormond
C25.1 Pharmacogenetics to Avoid Loss of Hearing (PALOH): A Prospective Observational Trial to Assess the Implementation of Rapid Genotyping to Avoid Aminoglycoside Induced Ototoxicity in Newborns
John H. McDermott*, R. Mahood, D. Stoddard, S. Ainsworth, G. Miele, I. Bruce, F. Ulph, N. Booth, K. Harvey, R. Body, P. Wilson, R. MacLeod, M. Turner, A. Mahaveer, The PALOH Investigators, W.G. Newman;
Manchester, United Kingdom
C25.2 Family history and polygenic risk scores are not interchangeable measures of genetic susceptibility
Nina Mars*, P. della Briotta Parolo, FinnGen, S. Ripatti;
Helsinki, Finland
C25.3 Breast and prostate cancer risk: the interplay of polygenic risk, high-impact monogenic variants, and family history
Emadeldin Hassanin, R. Aldisi, P. May, P. Krawitz, D. Bobbili, C. Maj;
Bonn, Germany
C25.4 FAIR Genomes: a metadata model and guidelines for reuse of NGS data
Kasper J. van der Velde**, G. Singh*, X. Liao, R. Kaliyaperumal, D. Stemkens, E. van Enckevort, S. Rebers, K. Wolstencroft, S. de Ridder, T. Vrijenhoek, F. de Andrade, A. Niehues, H.H.D. Kerstens, A. Jacobsen, B. de Koning, J. van Reeuwijk, K. Elsink, C. Staiger, J. van Montfrans, E. van Iperen, N. Knoers, S. Willems, W. van Zelst-Stams, H. Ijntema, E. Cuppen, L. Steeghs, S. Scholtens, L. Mei, P. Kemmeren, M. Roos, C. Oosterwijk, M. Weiss, A. Stubbs, P.A.C. ‘t Hoen, J. Laros, J.A.M. Beliën*, M.E. van Gijn*, M.A. Swertz*;
Groningen, Netherlands
C25.5 Analysis of medically actionable variants in the 59 ACMG genes using 6045 whole genomes from the Qatar Genome Program
Amal Elfatih*, S. I. Da’as, D. Abdelrahman, I. Mohammed, W. Hasan, N. Syed, R. Badii, F. Abbaszadeh, K. Fakhro, H. Mbarek, X. Estivill, B. Mifsud, The Qatar Genome Program Research Consortium;
Doha, Qatar
C25.6 Genetic testing and its impact on therapeutic decision making in childhood-onset epilepsies – a study in a tertiary referral centre
Allan Bayat, C.D. Fenger, G. Rubboli, R.S. Møller;
Dianalund, Denmark
C26.1 Sediment DNA reveals Neandertal population history
Benjamin Vernot, E. I. Zavala, A. Gómez-Olivencia, Z. Jacobs, V. Slon, F. Mafessoni, F. Romagné, A. Pearson, M. Petr, N. Sala, A. Pablos, A. Aranburu, J. Bermúdez de Castro, E. Carbonell, B. Li, M. T. Krajcarz, A. I. Krivoshapkin, K. A. Kolobova, M. B. Kozlikin, M. V. Shunkov, A. P. Derevianko, B. Viola1, S. Grote, E. Essel, D. L. Herráez, S. Nagel, B. Nickel, J. Richter, A. Schmidt, B. Peter, J. Kelso, R. G. Roberts, J. Arsuaga, M. Meyer;
Leipzig, Germany
C26.2 Comprehensive PGT for patients with de novo pathogenic variants following single-molecule long read amplicon sequencing based haplotyping
Eftychia Dimitriadou, Y. Ayeb, T. Jatsenko, C. Melotte, O. Tsuiko, H. Brems, J. Allemeersch, S. Hollants, S. Hollants, S. Debrock, K. Peeraer, E. Denayer, E. Legius, J. R. Vermeesch;
Leuven, Belgium
C26.3 Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study
Ana Viñuela, A. A. Brown, J. Fernandez, M. Hong, C. Brorsson, R. W. Koivula, S. Sharma, D. Davtian, T. Dupuis, S. Brunak, P. Franks, M. I. McCarthy, The DIRECT Consortium, J. Adamski, J. Schwenk, E. Pearson, E. T. Dermitzakis;
Newcastle upon Tyne, United Kingdom
C26.4 Mutational bias in human spermatogonia impacts the anatomy of enhancers active in neural development
Colin Semple, V. Kaiser, L. Talmane, Y. Kumar, F. Semple, M. MacLennan, Deciphering Developmental Disorders Study, D. FitzPatrick, M. Taylor;
Edinburgh, United Kingdom
C26.5 C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
Eva Lausberg, S. Gießelmann, J. P. Dewulf, E. Wiame, A. Holz, R. Salvarinova, C. Van Karnebeek, P. Klemm, K. Ohl, M. Mull, T. Braunschweig, J. Weis, C. Sommer, S. Demuth, C. Haase, C. Stollbrink-Peschgens, F. Debray, C. Libioulle, D. Choukair, P. T. Oommen, A. Borkhardt, H. Surowy, D. Wieczorek, N. Wagner, R. Meyer, T. Eggermann, M. Begemann, E. Van Schaftingen, M. Häusler, K. Tenbrock, L. Van Den Heuvel, M. Elbracht, I. Kurth, F. Kraft;
Aachen, Germany
C26.6 High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts
Timothy Wai, E. Cretin, P. Lopes, E. Vimont, T. Tatsuta, T. Langer, A. Gazi, M. Sachse, P. Yu-Wai-Man, P. Reynier;
Paris, France
10:00 – 10:30 hrs | Break
10:30 – 11:45 hrs | Concurrent Symposia S18-S22
Moderators: Elfride De Baere, Lars Feuk
S19.1 Order and disorder: abnormal 3D chromatin organization in human enhanceropathies
Darío G. J. Lupiáñez;
Germany
S19.2 Reconstruction of gene regulatory networks In Vivo
Tatjana Sauka-Spengler;
United Kingdom
S19.3 Determinants of enhancer and promoter activities of regulatory elements
Robin Andersson;
Denmark
Moderators: Kelly Ormond, Francesca Forzano
S20.1 The patient perspective
Jennifer Jones;
United Kingdom
S20.2 Telemedicine in genetics services
Sofia Douzgou;
Norway
S20.3 Factors influencing use of telegenetic counseling: Review of professionals’ experience
Rebecka Pestoff;
Sweden
Moderators: Elisa Giorgio, Nicola Brunetti-Pierri
S21.1 Current trends in RNA therapeutics development
Michela A. Denti;
Italy
S21.2 Lessons learnt from the “DMD saga”: from genetics to clinical trials
Annemieke Aartsma-Rus;
The Netherlands
S21.3 Patisiranin clinical practice – Experience from the UK National Amyloidosis Centre
Julian Gillmore;
United Kingdom
Moderators: Valerie Cormier-Daire, Emma Baple
S22.1 Primary cilia in health and disease
Lotte B. Pedersen;
Denmark
S22.2 Guilty by association: dissecting ciliary protein complexes to elucidate ciliopathy disease mechanisms
Ronald Roepman
The Netherlands
S22.3 Genes and molecular pathways underpinning ciliopathies
Michel R. Leroux;
Canada
11:45 – 12:30 hrs | e-Poster Viewing with Authors (Group D)
12:30 – 12:45 hrs | Break
12:45 – 13:45 hrs | Meet the speakers of Educational Sessions E12-E19
13:45 – 14:15 hrs | Break
14:15 – 15:15 hrs | Corporate Satellites
15:15 – 15:45 hrs | Break
15:45 – 16:30 hrs | Plenary Sessions PL4
Moderators: Maurizio Genuardi, Alexandre Reymond, Joris Veltman
PL4.1 Mendel Lecture
Dennis Lo;
Hong Kong
16:30 – 17:15 hrs | Plenary Sessions PL5
Moderators: Maurizio Genuardi, Alexandre Reymond, Joris Veltman
PL5.1 ESHG Award Lecture
Carlos Caldas;
United Kingdom
17:15 – 18:00 hrs | Plenary Sessions PL6
Moderators: Maurizio Genuardi, Alexandre Reymond, Joris Veltman, Alisdair McNeill
EJHG-SN Citation Awards
ESHG Awards for Best Presentations by Early Career Investigators
Closing Address
18:00 – 18:30 hrs | Break
18:30 – 20:00 hrs | Corporate Satellites
Note that the programme is subject to change, and will be updated continuously up to the conference