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

Moderators:  Joris Veltman, William Newman

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;

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;

Moderators:  Kelly Ormond, Francesca Forzano

S20.1 The patient perspective

Jennifer Jones;
United Kingdom

S20.2 Telemedicine in genetics services

Sofia Douzgou;

S20.3 Factors influencing use of telegenetic counseling: Review of professionals’ experience

Rebecka Pestoff;

Moderators:  Elisa Giorgio, Nicola Brunetti-Pierri

S21.1 Current trends in RNA therapeutics development

Michela A. Denti;

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;

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;

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

More information

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

More information

Note that the programme is subject to change, and will be updated continuously up to the conference