08:30 – 10:00 hrs | Concurrent Symposia S10-14 & Educational Sessions E10-E11
Room: Hall 3
S10.1 Genetic predisposition to medulloblastoma: Somatic evolution and clinical implications
Sebastian M. Waszak;
Norway
S10.2 Non-Invasive Early Lung Cancer Detection
Maximillian Diehn;
United States
S10.3 Therapeutic vulnerabilities from epigenetic alterations in cancer
Nada Jabado;
Canada
Room: Hall 2
S11.1 DNA methylation episignatures in Mendelian neurodevelopmental disorders
Bekim Sadikovic;
Canada
S11.2 Neuronal phenotyping to assess ID/DD variants
N.Nadif Kasri;
Australia
S11.3 Variants and cellular traits
Helena Kilpinen;
Finland
Room: Lomond Auditorium
S12.1 Cytoskeletal organization and function in oocyte meiosis
Melina Schuh;
Germany
S12.2 Meiotic crossover – novel insights
Scott Keeney;
United States
S12.3 Chromosomal errors originating in oocytes determine the curve of natural fertility in humans
Eva R. Hoffmann;
Denmark
Room: Hall 5
S13.1 Order and disorder: abnormal 3D chromatin organization in human enhanceropathies
Darío G. J. Lupiáñez;
Germany
S13.2 Reconstruction of gene regulatory networks In Vivo
Tatjana Sauka-Spengler;
United Kingdom
S13.3 Determinants of enhancer and promoter activities of regulatory elements
Robin Andersson;
Denmark
Room: Hall 1
S14.1 The patient perspective
Jayne Spink;
United Kingdom
S14.2 Telemedicine in genetics services
Sofia Douzgou;
United Kingdom
S14.3 Factors influencing use of telegenetic counseling: Review of professionals’ experience
Rebecka Pestoff;
Sweden
Room: Clyde
E10.1 Polygenic risks in complex disorders and Covid-19
Angel Carracedo;
Spain
E10.2 Polygenic risks in disorders of aging
Valentina Escott-Price;
United Kingdom
Room: M1
E11.1 How are the causes of complex disease distributed in the human genome?
David Balding;
Australia
E11.2 Bayesian gene discovery in rare disease
Ernest Turro;
United Kingdom
08:30 – 10:00 hrs | Corporate Satellites
10:00 – 10:30 hrs | Coffee Break, Exhibition, Poster Viewing
10:30 – 12:00 hrs | Concurrent Sessions C16-C23 from submitted abstracts
Chairs: tba
Room: A6+A7
C17.1 An innovative dual-reporter cell line to identify protein level modulators in drug-repositioning for rare genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)
Elisa Giorgio, E. Pesce, E. Pozzi, E. Sondo, M. Lorenzati, M. Ferrero, G. Borrelli, E. Della Sala, A. Buffo, N. Pedemonte, A. Brusco;
Torino, Italy
C17.2 Low-dose infigratinib, an oral selective fibroblast growth factor receptor (FGFR) tyrosine kinase inhibitor (TKI), demonstrates activity in preclinical models of achondroplasia (ACH)
Benoit Demuynck, J. Flipo, G. Li, C. Dambkowski, L. Legeai-Mallet;
Paris, France
C17.3 CRISPR/Cas9 gene editing approach completely repaired the causative COL4A5 10bp deletion in a naturally occurring dog model of Alport Syndrome.
Sergio Daga*, K. Capitani, F. Donati, G. Beligni, S. Croci, F. Valentino, C. Fallerini, R. Tita, C. Rivera, S. Clark, M. Mencarelli, M. Baldassarri, E. Benetti, S. Furini, E. Frullanti, M. Nabity, A. Auricchio, S. Conticello, A. Renieri, A. Pinto;
Siena, Italy
C17.4 Single-intrathecal delivery of a new AAV9-mediated gene therapy vector provides long-term safe expression of frataxin and prevents neurological and cardiac deficits, neurodegeneration and iron deposition in a Friedreich’s Ataxia mouse model
Eudald Balagué*, D. Cota-González, K. Adrián-Campbell, B. García-Lareu, A. Bosch, J. Coll-Cantí, M. Chillón, I. Sánchez, A. Matilla-Dueñas;
Badalona, Spain
C17.5 HDAC inhibitor CI-994 rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
A. Cooper, Tamer Butto, N. Hammer, S. Jagannath, D. Lucia Fend-Guella, J. Akhtar, K. Radyushkin, F. Lesage, J. Winter, S. Strand, J. Roeper, U. Zechner, S. Schweiger;
Mainz, Germany
C17.6 Targeting STAT3 signalling in CYLD cutaneous syndrome
N. Sinclair, K. Hodgson, M. Kurzawa-Akanbi, S. Cockell, J. Reichelt, C. Thiele, Neil Rajan;
Newcastle upon Tyne, United Kingdom
Chairs: tba
Room: A8
C18.1 Development of a rapid functional assay on peripheral blood for clinical interpretation of germline TP53 variants and detection of non-coding functional variants
S. Raad, M. Rolain, S. Coutant, C. Derambure, R. Lanos, F. Charbonnier, J. Bou, E. Bouvignies, G. Lienard, S. Vasseur, M. Farrel, O. Ingster, S. Baert-Desurmont, E. Kasper, G. Bougeard, T. Frébourg, Isabelle Tournier;
Rouen, France
C18.2 Are pathogenic germline variants in metastatic melanoma associated with unfavorable survival?
Saskia Biskup, T. Amaral, T. Sinnberg, M. Nieser, P. Martus, C. Garbe, F. Battke, A. Forschner, M. Schulze;
Tuebingen, Germany
C18.3 Germline, somatic and clinical associations with response to Immune Checkpoint Inhibitors and adverse events in a large patient cohort
Stefan Groha*, S. Abou Alaiwi, K. Taraszka, E. Lepisto, M. Manos, O. Rahma, T. Choueiri, M.L. Freedman, D. Schrag, K. Kehl, A. Gusev;
Boston, United States
C18.4 Rare germline variants in the tumor suppressor gene CDH1 are associated with familial glioma
Alisa Förster*, F. Brand, R. Banan, R. Hüneburg, C.A.M. Weber, N. Elyan, C. Previti, J. Kronenberg, U. Beyer, H. Martens, B. Hong, J.K. Krauss, J.H. Bräsen, A. Zimpfer, M. Stangel, A. Samii, S. Wolf, S. Aretz, B. Wiese, C. Hartmann, R.G. Weber;
Hannover, Germany
C18.5 Prostate cancer risk and prognosis for carriers of germline pathogenic variants in disease implicated genes
Niedzica Nadia Camacho Ordonez, L. Dong, A. Matakidou;
Melbourn, Royston, Hertfordshire, United Kingdom
C18.6 Clinical and molecular characterization of 1253 carriers of a deleterious CHEK2 mutation from the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC)
Wisam Habhab, U. Faust, G. Günther, U. Siebers-Renelt, M. Kiechle, C. Ott, N. Dikow, K. Kast, A. Vesper, C. Solbach, N. Harbeck, M. Stiller, A. Gehrig, C. Thomssen, H. Wallaschek, N. Arnold, I. Holzhauser, S. Kaulfuß, A. Volk, W. Janni, C. Engel, R. Schmutzler, O. Rieß, C. Schroeder, K. Bosse;
Tuebingen, Germany
Chairs: tba
Room: A3
C19.1 One test for all: whole genome sequencing in 62 trios with congenital limb malformation identifies structural variants and new disease genes
J. Elsner, M.A. Mensah, M. Holtgrewe, W. Hülsemann, S. Mundlos, Malte Spielmann;
Berlin, Germany
C19.2 Biallelic mutations inTOGARAM1 cause a novel primary ciliopathy
V. Morbidoni, E. Agolini, K.C. Slept, L. Pannone, D. Zuccarello, E. Grosso, G. Gai, L. Salviati, B. Dallapiccola, A. Novelli, S. Martinelli, Eva Trevisson;
Padova, Italy
C19.3 Biallelic loss-of-function variations in SMO, encoding the key transducer of the Sonic Hedgehog pathway, cause a broad phenotypic spectrum of hedgehogopathies
Thuy L. LE*, Y. Sribudiani, X. Dong, C. Huber, C. Kois, G. Baujat, C.T. Gordon, V. Mayne, L. Galmiche, V. Serre, N. Goudin, M. Zarhrate, C. Bole-Feysot, C. Masson, P. Nitschké, F.W. Verheijen, L. Pais, A. Pelet, S. Sadedin, J.A. Pugh, N. Shur, S.M. White, S.E. Chehadeh, J. Christodoulou, V. Cormier-Daire, R.M.W. Hofstra, S. Lyonnet, T.Y. Tan, T. Attié-Bitach, W.S. Kerstjens-Frederikse, J. Amiel, S. Thomas;
Paris, France
C19.4 Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner*, Y. Skorobogatko, B. Pode-Shakked, C.M. Powell, B. Alhaddad, A. Seibt, O. Barel, G. Heimer, C. Hoffmann, L.A. Demmer, Y. Perilla-Young, M. Remke, D. Wieczorek, T. Navaratnarajah, P. Lichtner, D. Klee, H.E. Shamseldin, F.A. Mutairi, E. Mayatepek, T.M. Strom, T. Meitinger, F.S. Alkuraya, Y. Anikster, A.R. Saltiel, F. Distelmaier;
Munich, Germany
C19.5 Functional genomics and extended analyses of unsolved exome-negative cases through the Undiagnosed Diseases Project in Victoria (UDP-Vic)
Tiong Y. Tan, T. Cloney, N.B. Tan, L. Gallacher, J. Elliott, G. Helman, C. Simons, S. Sadedin, L. Pais, A. O’Donnell-Luria, J. Christodoulou, S.M. White;
Parkville, Melbourne, Australia
C19.6 Identification of DNA methylation episignatures for PRC2-related overgrowth syndromes
Michael A. Levy, E. Aref-Eshghi, T.B. Balci, J. Kerkhof, G. Merla, C. Schwartz, B. Sadikovic;
London, Canada
Chairs: tba
Room: A2
C20.1 An ancestral 10bp repeat expansion in gene encoding component of ECM causes a novel autosomal-recessive peripheral neuropathy
Alistair T. Pagnamenta, Y. Zou, S. Donkervoort, S.B. Neuhaus, R. Maroofian, N. Dominik, H.Y. Yip, A.H. Nemeth, M. O’Driscoll, F. Norwood, J. Rankin, T. Lavin, C. Marini-Bettolo, H. Jungbluth, L. Medne, S.Y. Yum, A.R. Foley, A. Need, Genomics England Research Consortium, J.C. Taylor, C.G. Bönnemann, H. Houlden;
Oxford, United Kingdom
C20.2 Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy
Natalia Mendoza Ferreira, M. Karakaya, N. Cengiz, D. Beijer, N. Fuhrmann, I. Hölker, B. Schrank, K. Brigatti, C. Gonzaga-Jauregui, E. Puffenberger, G. Wunderlich, P. De Jonghe, T. Deconinck, K. Strauss, J. Baets, B. Wirth;
Cologne, Germany
C20.3 Biallelic JAM2 variants lead to early-onset recessive primary familial brain calcification
Lucia V. Schottlaender*, R. Abeti, Z. Jaunmuktane, C. Macmillan, V. Chelban, B. O’Callaghan, J. McKinley, R. Maroofian, S. Efthymiou, A. Fragkou, R. Forbes, M. Soutar, J. Livingston, B. Kalmar, B. Kalmar, O. Swayne, G. Hotton, A. Pittman, J. Mendes de Oliveira, M. de Grandis, A. Richard-Loendt, F. Launchbury, J. Althonayan, G. McDonnell, A. Carr, S. Khan, C. Beetz, A. Bisgin, S. Tug Bozdogan, A. Begtrup, E. Torti, L. Greensmith, P. Giunti, P. Morrison, S. Brandner, M. Aurrand-Lions, H. Houlden;
Capital federal, Argentina
C20.4 Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases
Elena Perenthaler*, A. Nikoncuk, S. Yousefi, W.M. Berdowski, M. Alsagob, I. Capo, H.C. van der Linde, P. van den Berg, E.H. Jacobs, D. Putar, M. Ghazvini, E. Aronica, W.F.J. van IJcken, W.G. de Valk, E. Medici–van den Herik, M. van Slegtenhorst, L. Brick, M. Kozenko, J.N. Kohler, J.A. Bernstein, K.G. Monaghan, A. Begtrup, R. Torene, A. Al Futaisi, F. Al Murshedi, F. Al Azri, E. Kamsteeg, M. Mojarrad, A. Eslahi, E. Ghayoor Karimiani, J. Vandrovcova, F. Zafar, N. Rana, K.K. Kandaswamy, J. Hertecant, P. Bauer, D. Colak, S. Efthymiou, H. Houlden, A.M. Bertoli-Avella, R. Maroofian, K. Retterer, A.C. Brooks, N. Kaya, T.J. van Ham, T. Barakat;
Rotterdam, Netherlands
C20.5 Human-lineage-specific genomic elements are enriched within genes implicated in neurodegenerative diseases
Zhongbo Chen*, D. Zhang, R.H. Reynolds, J. Hardy, J. Botía, S.A. Gagliano Taliun, M. Ryten;
London, United Kingdom
C20.6 Full-length RNA sequencing of Alzheimer brain sample using long reads reveals complex alternative splicing patterns
Jenny Ekholm, E. Tseng, T. Hon, J. Underwood;
Menlo Park, United States
Chairs: tba
Room: A1
C21.1 A genome-wide association study of sex at birth in 3 million individuals reveals widespread sex-differential participation bias with potential implications for GWAS interpretation
N. Piratsu, M. Cordioli, G. Mignogna, A. Abdellaoui, P. Nandakumar, B. Hollis, M. Kanai, V. Manikandan, P. Della Briotta Parolo, N. Baya, C. Carey, J. Karjalainen, T.D. Als, M.D. Van der Zee, F.R. Day, K.K. Ong, T. Morisaki, E. de Geus, R. Bellocco, Y. Okada, A. Børglum, P. Joshi, A. Auton, D. Hinds, B. Neale, R. Walters, Finngen Study, 23andMe Research Team, iPSYCH Consortium, M.G. Nivard, J.R.B. Perry, Andrea Ganna;
Helsinki, Finland
C21.2 A phenome-wide gene-based collapsing analysis of rare loss-of-function and missense variation in 268,451 UK Biobank exomes
Q. Wang, K. Carss, K. Smith, Slavé Petrovski;
Cambridge, United Kingdom
C21.3 FinnGen – study at its midway: already identifying dozens of novel variants for tens of diseases and traits
Markus Perola;
Helsinki, Finland
C21.4 Discovery, estimation and prediction analysis using a Bayesian survival model for complex traits
Sven E. Ojavee*, D. Trejo-Banos, M. Patxot, K. Fischer, A. Kousathanas, M.R. Robinson;
Lausanne, Switzerland
C21.5 Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics
Liza Darrous*, N. Mounier, Z. Kutalik;
Lausanne, Switzerland
C21.6 Multi-trait genome-wide association analysis of blood pressure identifies 45 additional loci
Claudia P. Cabrera, R. Pazoki, A. Giri, J.N. Hellwege, E. Evangelou, J. Ramírez, L.V. Wain, I. Tzoulaki, T.L. Edwards, P. Elliott, P.B. Munroe, M.R. Barnes, M.J. Caulfield, H.R. Warren, on behalf of the VA Million Veteran Program and the ICBP working group;
London, United Kingdom
Chairs: tba
Room: A5
C22.1 Newborn screening for severe combined immunodeficiency (SCID) using combined T cell reception excision circles (TREC)/kappa-deleting element recombination element (KREC) assays and next generation sequencing: diagnostic yield from the new established Swiss programme
Magdeldin Elgizouli, J. Pascal, A. Bahr, S. Prader, D. Drozdof, J. Pachlopnik Schmid, K. Steindl, A. Rauch, J. Reichenbach;
Schlieren, Switzerland
C22.2 Strategies for increasing diagnostic rate in patients with primary immunological disorders within the Genomics England 100,000 Genomes Project
Carme Camps, H. Griffin, K. Engelhardt, Genomics England Research Consortium, S.Y. Patel, S. Hambleton, J.C. Taylor;
Oxford, United Kingdom
C22.3 Dysregulated expression of the long intergenic non-coding RNA (lincRNA), LINC01871, implicated in Sjögren’s Syndrome pathogenesis
M.L. Joachims, B. Khatri, K.L. Tessneer, A.M. Stolarczyk, G.B. Wiley, A. Rasmussen, J.M. Guthridge, J.A. James, R.H. Scofield, K.L. Sivils, I. Adrianto, Christopher J. Lessard;
OKLAHOMA CITY, United States
C22.4 Clonal myelopoiesis in the UK biobank cohort: somatic ASXL1 mutations are strongly associated with smoking history
Ahmed A.Z. Dawoud*, W.J. Tapper, N.C.P. Cross;
Southampton, United Kingdom
C22.5 A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis
Egil Ferkingstad, M.K. Magnusson, S. Bell, A.S. Rigas, E. Allara, G. Bjornsdottir, A. Ramond, E. Sørensen, G.H. Halldorsson, D.S. Paul, K.S. Burgdorf, H.P. Eggertsson, S. Kristmundsdottir, W.J. Astle, C. Erikstrup, J.K. Sigurdsson, D. Vuckovic, V. Tragante, P. Surendran, B. Vidarsson, I. Jonsdottir, T. Hansen, O. Sigurdardottir, H. Stefansson, D. Rye, DBDS Genomic Consortium, J.E. Peters, D. Westergaard, H. Holm, N. Soranzo, K. Banasik, G. Thorleifsson, W.H. Ouwehand, U. Thorsteinsdottir, P. Sulem, A.S. Butterworth, D.F. Gudbjartsson, J. Danesh, S. Brunak, E. Di Angelantonio, H. Ullum, K. Stefansson;
Reykjavik, Iceland
C22.6 Identification of regulators of hematopoietic stem and progenitor cells in vivo in humans using population genetics
Aitzkoa Lopez de Lapuente Portilla, L. Ekhdal, C. Cafaro, Z. Ali, G. Thorleifsson, K. Zemaitis, N. Ugidos Damboriena, E. Johnsson, G. Norddahl, U. Thorsteinsdottir, J. Larsson, K. Stefansson, B. Nilsson;
Lund, Sweden
Chairs: tba
Room: A4
C23.1 Helping very young children understand inherited cancer predisposition syndromes using bibliotherapy
G. Schlub, A. Crook, J. Fleming, Kristine Barlow-Stewart, J. Kirk, K. Tucker, S. Greening;
Sydney, Australia
C23.2 Towards personalized genetic counselling: exploring subgroups among counselees based on different facets of empowerment before the first visit
Jan Voorwinden*, E. Birnie, M. Plantinga, M. Ausems, N. Knoers, M. Velthuizen, A. Lucassen, I. van Langen, A. Ranchor;
Groningen, Netherlands
C23.3 Exploring patient deliberation prior to predictive genetic testing in the absence of immediate clinical utility
Lisa M. Ballard, S. Doheny, A.M. Lucassen, A.J. Clarke;
Southampton, United Kingdom
C23.4 Negotiating autonomy and interdependence with family: how young people and health professionals navigate genetic testing for Li-Fraumeni syndrome
Rowan Forbes Shepherd*, L.A. Keogh, A.V. Werner-Lin, M.B. Delatycki, L.E. Forrest;
Melbourne, Australia
C23.5 Exploring the Post-result Informational Needs of BRCA1/2 Carriers: An Age Stratifying In-depth Qualitative Study
Jeanette Yuen*, S. Fung, C. Sia, T. Shaw, J. Ngeow;
Singapore, Singapore
C23.6 Improving the communication of genomics results to patients and families with rare diseases using Experience-Based Co-Design (EBCD)
A. Costa, Vera Frankova, E. Alexander, A. Arellanesová, V. Bros-Facer, J. Clayton-Smith, G. Gumus, M. Havlovicova, A. Hunter, M. Macek, A. Metcalfe, C. Patch, R. Pourová-Kremlíková, M. Pritchard, G. Robert, L. Roberts;
Prague, Czech Republic
Chairs: tba
Room: Live Stream Area (Exhibition Hall)
More information will follow soon.
12:00 – 13:00 hrs | Lunch Break, Exhibition, Poster Viewing
12:00 – 13:00 hrs | Corporate Satellites
12:15 – 13:00 hrs | Plenary Session PL3
Room: Lomond Auditorium
PL3.1 ELPAG Award Lecture
Gerry Kiebooms;
The Netherlands
13:00 – 14:00 hrs | Poster Viewing with Authors – Group C
14:15 – 15:45 hrs | Workshops W12-W18
More information will follow in spring 2021.
More information will follow in spring 2021.
More information will follow in spring 2021.
More information will follow in spring 2021.
More information will follow in spring 2021.
More information will follow in spring 2021.
More information will follow in spring 2021.
14:15 – 15:45 hrs | Corporate Satellites
15:45 – 16:00 hrs | Fruit Break, Exhibition, Poster Viewing
16:00 – 17:00 hrs | Poster Viewing with Authors – Group D
17:15 – 18:45 hrs | Concurrent Symposia S15-S19 & Educational Sessions E12-E13
Room: Hall 3
S15.1 Unraveling the sequence of the centromere
Karen Miga;
United States
S15.2 De novo assembly of human genomes
Adam Ameur;
Sweden
S15.3 Genome architecture and disease
Evan Eichler;
United States
Room: Lomond Auditorium
S16.1 Cell competition in cancer
Eduardo Moreno;
Portugal
S16.2 Quantitative and dynamic aspects of cell competition
Miguel Torres;
Spain
S16.3 Cell heterogeneity in normal human development
Thierry Voet;
Belgium
Chairs: Alexandre Reymond, Jeffrey Kidd
Room: Hall 5
S17.1 Global genetics towards a socially just practice: a view from North America
Charmaine Royal;
United States
S17.2 Global genetics towards a socially just practice: a view from Asia
Kazuto Kato;
Japan
S17.3 Global genetics towards a socially just practice: a view from Africa
Jantina de Vries;
South Africa
S17.4 GGlobal genetics towards a socially just practice: a view from Europe
Barbara Prainsack;
Austria
Room: Hall 1
S18.1 Estimating ascertainment bias
Nicola Pirastu;
United Kingdom
S18.2 The impact of transmitted and untransmitted alleles for birth weight
Nicole Warrington;
Australia
S18.3 The nature of nurture
Patrick Turley;
United States
Room: M1
S19.1 Approach to overgrowth syndrome in the genome era
Kate Tatton-Brown;
United Kingdom
S19.2 Epigenetic signatures in overgrowth syndrome
Rosanna Weksberg;
Canada
S19.3 Regional overgrowth
Leslie Biesecker;
United States
Room: Clyde
E12.1 Quantitative single cell biology
Dominic Grün;
Germany
E12.2 A Studying the immune system cell by cell
Muzlifah Haniffa;
United Kingdom
Chairs: ESHG-Young
Room: Hall 2
E12.1 Human stem cells-based organoids for personalized disease modelling in human genetics
Hans Clever;
The Netherlands
E12.2 Modeling human lung development and disease using hPSC-derived organoids
Hans-Willem Snoeck;
Untited States