09:00 – 10:30 hrs | Concurrent Symposia S20-S22 & Educational Sessions E14-E17
Room: Clyde
S20.1 The art, science and practice of implementing genomics in clinical care
Stephanie Best;
Australia
S20.2 Applying social cognitive theory to improve implementation of genomics in clinical practice
Jeremy Grimshaw;
Canada
S20.3 Health economics informing the implementation of genomics
Catherine Lejeune;
France
Room: Hall 1
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
Room: M1
S19.1 Cellular signalling by primary cilia in development, organ function and disease
Lotte B. Pedersen;
Denmark
S19.2 Guilty by association: dissecting ciliary protein complexes to elucidate ciliopathy disease mechanisms
Ronald Roepman
The Netherlands
S19.3 Genes and molecular pathways underpinning ciliopathies
Michel R. Leroux;
Canada
Room: Hall 3
E14.1 Methylation variation in human diseases
Andrew Sharp;
United States
E14.2 Computational analysis of DNA methylation in disease
Kasper Hansen;
United States
Room: Hall 2
E14.1 Signatures of selection in human genome
Aida Andres;
United Kingdom
E14.2 Genetic population structure and its consequences in biobank scale data
Daniel Lawson;
United Kingdom
Room: Lomond Auditorium
E15.1 The mediatory role of DNA methylation in causal pathways
Rebecca Richmond;
United Kingdom
E15.2 Exploiting the genome-wide genetic architecture for causal modelling
Michel Nivard;
The Netherlands
Room: Hall 5
E16.1 Chromosomal Instability and aging
Elsa Logarinho;
Portugal
E16.2 Genomic instability in early embryonic development
Ewart W. Kuijk;
The Netherlands
10:30 – 11:00 hrs | Coffee Break
11:00 – 12:30 hrs | Concurrent Sessions C24-C30 from submitted abstracts
Chairs: tba
Room: Hall B
C25.1 Electrical impedance detection based GenapSys sequencer enables diverse genomic applications
Saurabh Paliwal, A. Nabi, M. Fallahi, M.R. Barmi, M. Jouzi, S. Stern, X. Gomes, H. Nezamfar, E. LoPrete, B. Dong, P. Kenney, K.B. Parizi, H. Rategh, S. Sankar, H. Esfandyarpour;
Redwood City, United States
C25.2 Genome wide mapping of DNA damage lesions by Repair-Assisted DNA Damage (R.A.D.D) sequencing and optical mapping
Yael Michaeli, H. Sharim, N. Gilat, N. Gassman, Y. Ebenstein;
Tel Aviv, Israel
C25.3 Analysis of Mendelian phenotypes through mouse embryo viability screening
Pilar Cacheiro, S.A. Murray, V. Muñoz-Fuentes, H. Westerberg, M.E. Dickinson, A. Mallon, T.F. Meehan, D. Smedley, the International Mouse Phenotyping Consortium;
London, United Kingdom
C25.4 Patient-derived retinal organoids to model retinitis pigmentosa 1 (RP1)
Patricia Berber*, A. Milenkovic, C. Brandl, B.H.F. Weber;
Regensburg, Germany
C25.5 High-throughput sequencing and mapping technologies applied to 10 human genomes with chromothripsis-like rearrangements
Uira Melo, R. Schöpflin, D. Heller, J. Herztberg, H. Moeinzadeh, M. Holtgrewe, M. Klever, J. Jungnitsch, S. Türkmen, V. Beensen, G. Barbi, B. Prager, A. Latos-Bielenska, M. Bugge, I. Vogel, N. Tommerup, V. Kalscheuer, M. Spielmann, M. Vingron, S. Mundlos;
Berlin, Germany
C25.6 Next generation cytogenetics: genome-imaging improves structural variant detection for constitutional chromosomal aberrations
Kornelia Neveling, T. Mantere, E. Kater-Baats, R. van Beek, M. Oorsprong, S. Vermeulen, M. Pauper, D. Olde Weghuis, M. Stevens-Kroef, G. van der Zande, D. Smeets, A. Hoischen;
Nijmegen, Netherlands
Chairs: tba
Room: A6+A7
C26.1 NCBI ALFA: Providing Sequence Variation Resource from 1 Million dbGaP Subjects
Lon Phan, NCBI dbSNP, NCBI dbGaP;
Bethesda, United States
C26.2 Predicting the effects of structural variants in the human genome
Philip Kleinert*, M. Kircher;
Berlin, Germany
C26.3 RNA secondary structure mediated by Alu insertion as a novel disease-causing mechanism
Emmanuelle Masson, S. Maestri, D.N. Cooper, C. Férec, J.M. Chen;
Brest, France
C26.4 Increased mutation rates and genome variation at active spermatogonial regulatory sites
Vera B. Kaiser, L. Talmane, Y. Kumar, F. Semple, M. MacLennan, Deciphering Developmental Disorders Study, D.R. FitzPatrick, M.S. Taylor, C.A. Semple;
Edinburgh, United Kingdom
C26.5 Resolving complex structural variants in recurrent brain tumors
K. Okonechnikov, J. Hübner, O. Chapman, A. Chakraborty, M. Pagadal, R. Bumb, S. Chandran, K. Kraft, R. Hidalgo, S. Mundlos, R. Wechsler-Reya, N. Coufal, M. Levy, J. Crawford, K. Pajtler, D. Reid, A. Schmitt, H. Carter, F. Ay, J. Dixon, J. Mesirov, S.M. Pfister, M. Kool, Lukas Chavez;
San Diego, United States
C26.6 Genomics England Data Aggregation: A deep catalogue of human variation data from 78,683 whole genomes
Loukas Moutsianas, M. Wielscher, A. Stuckey, S. Hunt, D.J. Rhodes, C.A. Odhams, I.M. Armean, P. Short, P. Flicek, A. Need, M. Hurles, E. Birney, M. Caulfield, A. Rendon, The Genomics England Research Consortium;
London, United Kingdom
Chairs: tba
Room: A8
More information will follow shortly before the conference.
Chairs: tba
Room: A3
C28.1 Pathogenic variants in RLIM/RNF12 lead to syndromic X-linked intellectual disability and congenital, neurologic and behavior disorders
Suzanna G.M. Frints, A. Ozanturk, G. Rodriguez Criado, U. Grasshoff, M. Field, S. Manouvrier-Hanu, S. Hickey, K. Gripp, C. Bauer, C. Schroeder, A. Toutain, T. Mihalic Mosher, B.J. Kelly, P. White, A. Dufke, S. Moon, D.C. Koboldt, E. Gerkes, A. van Haeringen, C. Ruivenkamp, C. Mignot, B. Keren, A. Müller, S. Waldmüller, M. Blandfort, U. Kordaß, K. Gardner, A. Trimouille, K.E.P. van Roozendaal, S.A. Haas, L. Murray, E. Haan, R. Carroll, J. Liebelt, L. Hobson, M. De Rademaeker, H. Brunner, J. Glatz, K. Devriendt, J. Vermeesch, M. Raynaud, O. Riess, J. Gribnau, N. Katsanis, P. Bauer, J. Gecz, C. Golzio, C. Gontan, V. Kalscheuer;
Maastricht, Netherlands
C28.2 De-novo and Biallelic pathogenic variants in NARS1 cause neurodevelopmental delay due to dominant negative and partial loss of function effect
Emer O’Connor, A. Manole, S. Efthymiou*, M. Mendes, M. Jennings, D. Jenkins, M. Lopez, R. Maroofian, V. Salpietro, S. Antonarakis, J. Vincent, T. B. Haack, F. Distelmaier, R. Horvath, J. Gleeson, H. Becker, J. Mandel, D. Koolen, H. Houlden;
London, United Kingdom
C28.3 Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth
Frederike L. Harms*, P. Parthasarathy, D. Zorndt, M. Alawi, S. Fuchs, B.J. Halliday, C. McKeown, H. Sampaio, N. Radhakrishnan, S.K. Radhakrishnan, R. Sachdev, S.P. Robertson, S. Nampoothiri, K. Kutsche;
Hamburg, Germany
C28.4 De novo pathogenic variants in CSNK2B cause a new intellectual disability-craniodigital syndrome distinguished from Poirier-Bienvenu neurodevelopmental syndrome
Maria Asif*, E. Kaygusuz, M. Shinawi, A. Nickelsen, J. Hochscherf, D. Lindenblatt, A.A. Noegel, S. Tinschert, K. Niefind, P. Fortugno, J. Jose, F. Brancati, P. Nürnberg, M.S. Hussain;
Cologne, Germany
C28.5 Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies
Gabriel C. Dworschak*, J. Punetha, J.C. Kalanithy, E. Mingardo, H.B. Erdem, Z.C. Akdemir, E. Karaca, T. Mitani, D. Marafi, J.M. Fatih, S.N. Jhangiani, J.V. Hunter, T. Dakal, B. Dhabhai, O. Dabbagh, H.S. Alsaif, F.S. Alkuraya, R. Maroofian, H. Houlden, S. Efthymiou, N. Dominik, V. Salpietro, T. Sultan, S. Haider, F. Bibi, H. Thiele, J. Hoefele, K.M. Riedhammer, M. Wagner, I. Guella, M. Demos, B. Keren, J. Buratti, P. Charles, C. Nava, E. Valkanas, L.B. Waddell, K.J. Jones, E.C. Oates, S.T. Cooper, D. MacArthur, R.E. Schnur, G.E. Hoganson, J.E. Burton, M. McEntagart, D. Pehlivan, J.E. Posey, J.R. Lupski, H. Reutter;
Bonn, Germany
C28.6 Mutations in Gemin5 cause developmental delay, motor dysfunction and cerebellar atrophy
Udai Pandey;
Pittsburgh, United States
Chairs: tba
Room: A2
C29.1 Homozygous loss-of-function mutations in CCDC134 are responsible for a severe form of osteogenesis imperfecta
Johanne Dubail, P. Brunelle, G. Baujat, C. Huber, M. Doyard, C. Michot, P. Chavassieux, A. Khairouni, V. Topouchian, S. Monnot, E. Koumakis, V. Cormier-Daire;
Paris, France
C29.2 Hypomorphic variants in the replication complex member GINS3 result in a Meier Gorlin phenotype
Peter Kannu, E. Campos, H. Wurtele, K. Ahmed, R. Shaheen, M. McQuaid, K. Kernohan, K. Boycott, Z. Alhassnan, F. Alkuraya;
Toronto, Canada
C29.3 Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia
Aude Beyens*, C. Adamo, E. Yilmaz Gulec, A. Gezdirici, P. Bonaldo, H. Bornaun, E. Brauchle, J. Brinckmann, W.P. Devine, B. Gangaram, T. Sasaki, K. Schenke-Layland, S. Symoens, A. Tam, G. Sengle, B. Callewaert;
Ghent, Belgium
C29.4 Transcriptional single-cell atlas of human limb malformation candidate genes
Cesar A. Prada-Medina*, G. Cova, J. Glaser, C. Dietrich, J. Henck, S. Mundlos, M.A. Mensah, M. Spielmann;
Berlin, Germany
C29.5 Tendon-to-bone attachment cells are bi-fated are regulated by shared enhancers KLF transcription factors
S. Kult, Tsviya Olender, M. Osterwalder, S. Krief, R. Blecher-Gonen, S. Ben-Moshe, L. Farack, H. Keren-Shaul, D. Leshkowitz, T.M. Salame, T.D. Capellini, S. Itzkovitz, I. Amit, A. Visel, E. Zelzer;
Rehovot, Israel
C29.6 Melorheostosis: two radiographic patterns are caused by somatic mosaicism for different genes with distinct pathophysiology underlying different clinical and histological presentation
Heeseog Kang, S. Jha, A. Ivovic, N. Fratzl-Zelman, Z. Deng, A. Mitra, W.A. Cabral, E.P. Hanson, E. Lange, E.W. Cowen, J. Katz, P. Roschger, K. Klaushofer, R.K. Dale, R.M. Siegel, T. Bhattacharyya, J.C. Marini;
Bethesda, United States
Chairs: tba
Room: A1
C30.1 Using reference-fixed principal components to improve polygenic risk score prediction
Olivier Naret*, J. Fellay;
Lausanne, Switzerland
C30.2 The Polygenic Score (PGS) Catalog: an open database to enable reproducibility and systematic evaluation
Samuel A. Lambert*, L. GIl, S. Jupp, M. Chapman, H. Parkinson, J. Danesh, J.A.L. MacArthur, M. Inouye;
Cambridge, United Kingdom
C30.3 Polygenic risk, breast cancer susceptibility genes, and breast cancer over the life course
Nina Mars*, E. Widén, T. Meretoja, S. Kerminen, M. Pirinen, P. Palta, A. Palotie, J. Kaprio, H. Joensuu, M. Daly, S. Ripatti;
Helsinki, Finland
C30.4 Genetic assessment of age-associated fracture risk
Carolina Medina-Gomez*, K. Trajanoska, C. Fan, O.A. Andreassen, M. Zillikens, A.M. Dale, A.G. Uitterlinden, T.M. Seibert, F. Rivadeneira;
Rotterdam, Netherlands
C30.5 Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic disease
Scott C. Ritchie*, Y. Liu, S.A. Lambert, B.G. Drew, A.C. Calkin, A.S. Butterworth, J. Danesh, M. Inouye;
Cambridge, United Kingdom
C30.6 Returning polygenic risk information for coronary artery disease and other traits to biobank participants
Minttu M. Marttila, T. Paajanen, H. Marjonen, A. Haukkala, H. Kääriäinen, K. Kristiansson, M. Perola;
Helsinki, Finland
Chairs: tba
Room: A4
C31.1 “It’s probably nothing, but⋯” Couples’ experiences of pregnancy following a uncertain prenatal genetic result
Stina Lou, K. Lomborg, C. Lewis, S. Riedijk, O. Petersen, I. Vogel;
Aarhus, Denmark
C31.2 Additional Genomic Findings: towards a feasible, effective model of care
E. Lynch, M. Martyn, L. Lee, A. Kanga-Parabia, R. Weerasuriya, R. Tytherleigh, Clara L. Gaff;
Parkville, Australia
C31.3 Analysis of laboratory exome sequencing reporting practices using a ‘virtual patient’
Danya F. Vears, M.G. Elferink, M. Kriek, P. Borry, K.L. van Gassen;
Leuven, Belgium
C31.4 Knowledge, attitudes and preparedness for polygenic risk testing in clinical practice: a cross-sectional survey of health professionals
Amelia K. Smit*, A.E. Cust, K. Dunlop, M. Young, B. Meiser, J. Tiller, T. Yanes;
Sydney, Australia
C31.5 Impact of the discussion of uncertainty on former counselees’ outcomes. An experimental vignettes study
Niki Medendorp, M. Hillen, C. Aalfs, A. Stiggelbout, E. Smets;
Amsterdam, Netherlands
C31.6 Primary Care Genomics: A roadmap for curriculum change and educational resource development
J. Hayward, I. Rafi, S. Simpson, E. Miller, A. Seller, Michelle Bishop;
Birmingham, United Kingdom
12:30 – 13:30 hrs | Lunch Break
13:30 – 14:30 hrs | Plenary Sessions PL4
Room: Hall 3
PL4.1 Mendel Lecture
Dennis Lo;
Hong Kong
14:30 – 15:30 hrs | Plenary Sessions PL5
Room: Hall 3
PL5.1 ESHG Award Lecture
Carlos Caldas;
United Kingdom
15:30 – 16:15 hrs | Plenary Sessions PL6
Room: Hall 3
EJHG-SN Citation Awards
ESHG Awards for Best Presentations by Young Investigators
European DNA Day Contest
Closing Address