Monday, June 14

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.