09:00 – 10:30 hrs | Concurrent Symposia S17-S19 & Educational Sessions E14-E16
Room: Gold Room
S17.1 CRISPR cas possibilities and challenges
Emmanuelle Charpentier
Berlin, Germany
S17.2 Human germline genome editing: the ASHG position statement
Kelly Ormond
Stantford, CA, United States
S17.3 National Academy of Sciences consensus statement on genome editing
Luigi Naldini
Milan, Italy
S17.4 Societal opportunities and challenges of genome editing
Alta Charo
Madison, WI, USA
Chair: Lude Franke
Room: Red 1+2
S18.1 The gene expression consequences of mammalian regulatory evolution
Camille Berthelot;
Paris, France
S18.2 A functional assay that allows massively parallel testing of enhancers
Emma Farley;
San Diego, CA, United States
S18.3 Ultraconserved enhancers are required for normal development
Diane Dickel;
Berkeley, CA, United States
Chair: Enza Maria Valente
Room: Brown 3
S19.1 DNA Origami: building molecular tools out of DNA
Bjorn Hogberg;
Stockholm, Sweden
S19.2 DNA nanostructures as innovative vehicles for smart drug delivery
Mauri A. Kostiainen;
Aalto, Finland
S19.3 DNA and RNA nanostructures as chemical and biological sensors
Arun R. Chandrasekaran;
Albany, NY, United States
Chair: Thierry Voet
Room: Auditorium
E14.1 Single-cell multi-omics: interrogating multiple omic layers of the same single cellon
Iain Macaulay;
Norwich, United Kingdom
E14.2 Sequencing single cells in situ
Mats Nilsson;
Uppsala, Sweden
Chair: Maris Laan
Room: Blue 1+2
E15.1 Disorders of sex development: genetics, diagnostics and clinical management
Andrew Sinclair;
Melbourne, Australia
E15.2 Disorders of gonadal and adrenal development: nuclear receptor gene mutations and phenotypic heterogeneity
John C. Achermann;
London, United Kingdom
Chair: Brunella Franco
Room: Yellow 1+2
E16.1 Genetics of early tooth development and dental disorders
Ophir D. Klein;
Stanford, CA, United States
E16.2 A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Agnes Bloch-Zupan;
Strasbourg, France
10:30 – 11:00 hrs | Coffee Break
11:00 – 12:30 hrs | Concurrent Sessions C19-C23
Chair: tba
Room: Auditorium
C19.1 Clinical experience with shallow whole genome sequencing as a detection method for Copy Number Variations
Björn Menten, M. De Smet, L. Raman, T. Sante, N. Van Roy, A. Dheedene;
Ghent, Belgium
C19.2 An international interlaboratory study of complex variant detection by clinical genetic tests
Stephen Lincoln, A. Fellowes, S. Mahamdallie, S. Chowdhury, E. Klee, J. Zook, R. Truty, R. Garlick, S. Aradhya, M. Salit, N. Rahman, S. Kingsmore, R. Nussbaum, M. Ferber, B. Shirts;
San Francisco, United States
C19.3 A pipeline to detect repeat expansions from whole genome sequencing in the 100,000 Genomes Project
Kristina Ibanez*, E. Dolzhenko, K. R Smith, R. H Scott, E. Thomas, E. Baple, H. Brittain, D. Bourn, P. Brennan, J. Polke, H. Houlden, A. Rendon, M. J Caulfield, M. A Eberle, A. Tucci;
London, United Kingdom
C19.4 Amplification-free, CRISPR-Cas9 targeted enrichment and SMRT Sequencing of repeat-expansion disease causative genomic regions
Jenny Ekholm, Y. Tsai, T. Hon, B. Bowman, J. Ziegle, B. Schule, T. Ashizawa, K. McFarland, T. Clark;
Menlo Park, United States
C19.5 Long-read sequencing – for detecting clinically relevant structural variation
Alexander Hoischen, A.M. Wenger, M. van der Vorst, M. Kwint, M. Nelen, K. Neveling, P. Baybayan, L. Hickey, J. Kuijpers, J. Korlach, K. Corcoran, H.G. Brunner, L.E.L.M. Vissers, C. Gilissen;
Nijmegen, Netherlands
C19.6 A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
M. Wilbe, Sanna Gudmundsson, J. Johansson, A. Ameur, E. Stattin, G. Annerén, H. Malmgren, C. Frykholm, M. Bondeson;
Uppsala, Sweden
Chair: tba
Room: Auditorium
C20.1 De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila
J. Straub, E.D.H. Konrad, J. Grüner, A. Toutain, L.A. Bok, M.T. Cho, H.P. Crawford, H. Dubbs, G. Douglas, R. Jobling, D. Johnson, B. Krock, M.A. Mikati, A. Nesbitt, J. Nicolai, M. Phillips, A. Poduri, X.R. Ortiz-Gonzales, Z. Powis, A. Santani, L. Smith, A.P.A. Stegmann, C. Stumpel, M. Vreeburg, D.D.D. Study, A. Fliedner, A. Gregor, H. Sticht, Christiane Zweier;
Erlangen, Germany
C20.2 Inborn de novo mutations in NFE2L2 cause a multisystem disorder in children and adolescents: From gene identification to therapy development
Susann Diegmann*, J. Church, R. Schnur, M. Krusen, S. Dreha-Kulaczewski, W. Kühn-Velten, A. Wolf, B. Huppke, F. Millan, A. Begtrup, F. Almusafri, H. Thiele, J. Altmüller, P. Nürnberg, M. Müller, J. Gärtner, P. Huppke;
Göttingen, Germany
C20.3 De novo mutations affecting PPP2CA, encoding the catalytic Cα subunit of PP2A, cause PP2A dysfunction and a neurodevelopmental disorder
Sara Reynhout*, S. Jansen, D. Haesen, S. Van Belle, S. de Munnik, E. Bongers, J. Schieving, C. Marcelis, J. Amiel, M. Rio, H. McLaughlin, R. Ladda, S. Sell, M. Kriek, C. Peeters-Scholte, P. Terhal, K. van Gassen, N. Verbeek, S. Henry, J. Scott Schwoerer, S. Malik, N. Revencu, C. Ferreira, E. Macnamara, B. de Vries, C. Gordon, V. Janssens, L. Vissers;
Leuven, Belgium
C20.4 Breaking TADs: an emerging pathogenic mechanism exemplified by Autosomal Dominant demyelinating LeukoDystrophy (ADLD)
Elisa Giorgio*, M. Spielmann, B.C. Nmezi, G. Vaula, A. Lehman, A. Brussino, S. Cavalieri, M. Ferrero, E. Di Gregorio, C. Mancini, E. Pozzi, E. Riberi, Q.S. Padiath, A. Brusco;
Torino, Italy
C20.5 AAV9- CRiSPR/Cas9 preclinical trial on patient-derived FOXG1 mutated cells
Susanna Croci*, S. Daga, F.C. Lorenzetti, F.T. Papa, F. Donati, C. Lo Rizzo, D. Lopergolo, L. Pancrazi, M. Doria, A. Auricchio, M. Costa, S. Conticello, A. Renieri, I. Meloni;
Siena, Italy
C20.6 A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis.
Nolwenn Jean-Marçais, H.E. Olson, E. Yang, D. Heron, K. Tatton-Brown, P.A. van der Zwaag, E.K. Bijlsma, B.L. Krock, E. Backer, E. Kamsteeg, M. Sinnema, M.R.F. Reijnders, D. Bearden, R.J. Lunsing, L. Burglen, G. Lesca, L.A. Smith, B. Sheidley, P. L. Pearl, C. Moufawad El Achkar, A. Poduri, C.M. Skraban, A.I. Nesbitt, D.E. Fransen van de Putte, C.A.L. Ruivenkamp, P. Rump, I. Sabatier, D.A. Sweetser, J.L. Waxler, J. Tarpinian, K.J. Wierenga, J. Donadieu, V. Narayanan, K.M. Ramsey, C. Nava, S.H. Lelieveld, J. Schuurs-Hoeijmakers, H.G. Brunner, B. Keren, F. Tran Mau-Them, J. Thevenon, L. Faivre, G. Thomas, C. Thauvin-Robinet;
Dijon, France
Chair: tba
Room: Red 1+2
C21.1 Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
M. Verbanck, C. Chen, B. Neale, Do Ron;
New York, United States
C21.2 Mendelian randomization combining GWAS and eQTL data reveals new loci, extensive pleiotropy and genetic determinants of complex and clinical traits
Eleonora Porcu*, S. Rueger, eQTLGen Consortium, F.A. Santoni, A. Reymond, Z. Kutalik;
Lausanne, Switzerland
C21.3 Equivalence of LD-score regression and individual-level-data methods
Ronald de Vlaming*, M. Johannesson, P.K.E. Magnusson, M.A. Ikram, P.M. Visscher;
Amsterdam, Netherlands
C21.4 Regional heritability analysis of complex traits using haplotype blocks defined by natural recombination boundaries
Richard F. Oppong*, P. Navarro, C.S. Haley, S. Knott;
Edinburgh, United Kingdom
C21.5 Associations of polygenic scores with lipid biomarkers in diverse populations
Karoline Kuchenbaecker, T. Reiker, A. Gilly, D. Gurdasani, B. Prins, D. Suveges, L. Southam, G. Asiki, J. Seeley, A. Kamali, K. Hatzikotoulas, A. Farmaki, G. Melloni, G. Ritchie, J. Schwartzentruber, P. Danecek, B. Kilian, M. Pollard, E. Tsafantakis, M. Karaleftheri, G. Dedoussis, M. Sandhu, E. Zeggini;
London, United Kingdom
C21.6 Two evidence of ongoing epistatic selection against genomic deletions in the human population
Konstantin Popadin, E. Porcu, M. Lepamets, K. Mannik, M. Garieri, R. Magi, Z. Kutalik, A. Reymond;
Lausanne, Switzerland
Chair: tba
Room: Brown 3
C22.01 Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
Ilaria D’Atri, L. Li, X. Jiao, F. Ono, R. Nelson, C. Chan, N. Nakaya, Z. Ma, Y. Ma, X. Cai, L. Zhang, S. Lin, A. Hameed, B.A. Chioza, H. Hardy, G. Arno, S. Hull, M. Khan, J. Fasham, G.V. Harlalka, M. Michaelides, A.T. Moore, Z. Akdemir, S. Jhangiani, J.R. Lupski, F.P.M. Cremers, R. Qamar, A. Salman, J.K. Chilton, J. Self, F. Kabir, M. Naeem, M. Ali, J. Akram, P.A. Sieving, S. Riazuddin, S. Riazuddin, J. Hejtmancik, E.L. Baple, A.H. Crosby;
Exeter, United Kingdom
C22.02 Loss of GPNMB causes autosomal recessive amyloidosis cutis dyschromica in humans
Chi-Fan Yang, S. Lin, C. Chiang, Y. Wu, W. H’ng, C. Chang, Y. Chen, J. Wu;
Taipei, Taiwan
C22.03 Substrate reduction therapy approach for Sanfilippo C syndrome: use of iPSC and iPSC-derived neurons from patients as cellular models
Noelia Benetó*, E. Creus-Bachiller, M. García-Morant, D. Grinberg, L. Vilageliu, I. Canals;
Barcelona, Spain
C22.04 Methylmalonic Aciduria cblB type cellular model: Hepatocyte differentiation from iPSC and pharmacological chaperones evaluation
E. Richard, Álvaro Briso-Montiano, S. Brasil, L. R. Desviat, M. Ugarte, B. Pérez;
Madrid, Spain
C22.05 Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome
N.J. Lake, B.D. Webb, D.A. Stroud, T.R. Richman, B. Ruzzenente, A.G. Compton, H.S. Mountford, J. Pulman, C. Zangarelli, M. Rio, N. Bodaert, Z. Assouline, M.D. Sherpa, E.E. Schadt, S.M. Houten, J. Byrnes, E.M. McCormick, Z. Zolkipli-Cunningham, K. Haude, Z. Zhang, K. Retterer, R. Bai, S.E. Calvo, V.K. Mootha, J. Christodoulou, A. Rotig, A. Filipovska, I. Cristian, M.J. Falk, Metodi D. Metodiev, D.R. Thorburn;
Paris, France
C22.06 Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency
Charlotte L. Alston*, M.T. Veling, J. Heidler, L.S. Taylor, L. He, A. Broomfield, J. Pavaine, H. Prokisch, S. Wortmann, P.E. Bonnen, R. McFarland, I. Wittig, D.J. Pagliarini, R.W. Taylor;
Newcastle upon Tyne, United Kingdom
C22.07 Dissecting tissue-specific functional networks associated with 16p11.2 reciprocal genomic disorder using CRISPR engineered human iPS and mouse models
P. Razaz, D.J. Tai, S. Erdin, T. Aneichyk, T. Arbogast, A. Ragavendran, A. Stortchevoi, B.B. Currall, C.E.F. Esch, E. Morini, W. Ma, R.J. Kelleher, C. Golzio, N. Katsanis, J.F. Gusella, Michael Talkowski;
BOSTON, United States
C22.08 Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy
Chiara Aiello, I. Dorboz, C. Simons, R. Stone, M. Niceta, M. Elmaleh, M. Abuawad, D. Doummar, A. Bruselles, N. Wolf, L. Travaglini, O. Boespflug-Tanguy, M. Tartaglia, A. Vanderver, D. Rodriguez, E. Bertini;
Rome, Italy
C22.09 SINEUP, a synthetic antisense non-coding RNA-based technology, as possible new therapeutic tool for haploinsufficiency: Autism Spectrum Disorders (ASD) and Epilepsy as Proof-of-Principle
Francesca Di Leva, M. Arnoldi, G. Alvari, A. Messina, S. Casarosa, G.L. Carvill, S. Zucchelli, S. Gustincich, M. Biagioli;
Trento, Italy
C22.10 Modeling human hereditary cancer syndromes using CRISPR/Cas9 mediated genome editing in Xenopus tropicalis
D. Dimitrakopoulou, T. Naert, D. Tulkens, R. Noelanders, T. Van Nieuwenhuyse, P. Van Vlierberghe, Kris Vleminckx*;
Ghent, Belgium
C22.11 Interrogation of non-coding transcriptome in high-risk susceptibility to familiar cancer
Tomas Kirchhoff, R. Ferguson, D. Simpson, E. Kazlow, R. Monahan, J. Chun Kim, F. Schnabel, O. Ginsburg, D. Polsky;
New York, United States
C22.12 Genetic counselling in hereditary diffuse gastric cancer: economical and psycho-social impact
Luzia Garrido*, T. Nércio, R. Leal, R. Guimarães, L. Ferro, L. Vilarinho, S. Costa, A. Magalhães, A.S. Mesquita, A.F. Pereira, I. Gullo, H. Pinheiro, S. Sousa, B. Carvalho, A.P. Neto, L. Capela, C. Teixeira, A. Fareleira, V. Devezas, G. Macedo, J. Preto, J. Barbosa, M. Baptista, G. Pinto, M. Damasceno, J.L. Fougo, J. Costa-Maia, S. Fernandes, F. Carneiro, S. Castedo, C. Oliveira;
Porto, Portugal
C22.13 Raw Genomic Data: Storage, Access and Sharing
Mahsa Shabani*, D. Vears, P. Borry;
Leuven, Belgium
C22.14 Exploring molecular interactions by clustering analysis of similarity scores from next-generation phenotyping approaches
Tzung-Chien Hsieh*, N. Hajjir, J.T. Pantel, M. Mensah, M. Zhao, J. Hertzberg, M. Schubach, S. Köhler, Y. Gurovich, N. Fleischer, H. David-Eden, Y. Hanani, T. Kamphans, D. Horn, S. Mundlos, P. Krawitz;
Bonn, Germany
Chair: tba
Room: Blue 1+2
C23.1 Antisense therapy for a common corneal dystrophy ameliorates TCF4repeat expansion-mediated toxicity
C. Zarouchlioti, B. Sanchez-Pintado, N.J. Hafford Tear, P. Klein, P. Liskova, K. Dulla, M. Semo, A.A. Vugler, K. Muthusamy, L. Dudakova, H.J. Levis, P. Skalicka, P. Hysi, M.E. Cheetham, S.J. Tuft, P. Adamson, A.J. Hardcastle, Alice E. Davidson;
London, United Kingdom
C23.2 NGS and animal model reveal SLC9A3R1 as a new gene involved in human age-related hearing loss (ARHL).
Anna Morgan*, M. Brumat, M. Cocca, M. Di Stazio, S. Bassani, M. La Bianca, P. Gasparini, G. Girotto;
Trieste, Italy
C23.3 Congenital Macular Dystrophy is caused by non-coding duplications downstream of the IRXA cluster
Raquel S. Silva*, K. Kraft, G. Arno, V. Cipriani, V. Heinrich, N. Pontikos, B. Puech, A. Moore, V. van Heyningen, S. Mundlos, A.R. Webster;
London, United Kingdom
C23.4 Ectopic expression of GRHL2 due to non-coding mutations promotes cell state transition and causes Posterior Polymorphous Corneal Dystrophy 4
P. Liskova, L. Dudakova, C.J. Evans, K.E. Rojas López, N. Pontikos, D. Athanasiou, H. Jama, J. Sach, P. Skalicka, V. Stranecky, S. Kmoch, C. Thaung, M. Filipec, M.E. Cheetham, A.E. Davidson, S.J. Tuft, Alison J. Hardcastle;
London, United Kingdom
C23.5 Whole genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Jean Muller, V. Geoffroy, C. Stoetzel, H. Dollfus, S. Scheidecker, E. Schaefer, A. Kröll, I. Perrault, J. Rozet, S. Bär, S. Friant, M. Delbarre, M. Antin, A. Leuvrey, C. Henry, S. Saunier, H. Blanché, E. Decker, C. Bergmann, K. Kloth, G. Klaus, C. Mache, D. Martin-Coignard, S. McGinn, A. Boland, J. Deleuze;
Strasbourg, France
C23.6 Biallelic loss-of-function variants in DNMBP cause congenital cataract and visual impairment
Muhammad Ansar, A. Nazir, H. Chung, S. Imtiaz, M.T. Sarwar, P. Makrythanasis, E. Falconnet, M. Guipponi, C. Borel, C.J. Pournaras, M.A. Ansari, E. Ranza, F.A. Santoni, J. Ahmed, I. Shah, K. Gul, H. Bellen, S.E. Antonarakis;
Geneva, Switzerland
12:30 – 13:30 hrs | Lunch Break
13:30 – 14:15 hrs | Plenary Session PL3
Chair: Gunnar Houge, Joris Veltman
PL3.1 Mendel Lecture
Emanuelle Charpentier;
Berlin, Germany
14:15 – 15:00 hrs | Plenary Session PL4
Chair: Gunnar Houge, Joris Veltman
PL4.1 ESHG Award Lecture
Matthew Hurles;
Hinxton, United Kingdom
15:00 – 16:00 hrs | Plenary Session PL5
Chair: Gunnar Houge, Joris Veltman
EJHG-SN Citation Awards
ESHG Young Investigator & Poster Awards
European DNA Day Contest
Closing Address