Tuesday, June 19

Chair: Joris Veltman, Heather Mefford, Sam Riedjik
Room: Gold Room

S17.1 CRISPR-Cas9: Advances 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, Enrico Maria Surace
Room: Red 1+2

S18.1 The gene expression consequences of mammalian regulatory evolution

Camille Berthelot;
Paris, France

S18.2 Regulatory principles governing enhancer function during animal development

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, Antonio Amoroso
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 Triplex-forming oligonucleotides: a third strand strand for DNA nanotechnology

David Rusling;
Southampton, United Kingdom

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: Alfredo Brusco
Room: Blue 1+2

E15.1 Disorders of sex development: genetics, diagnostics and clinical management

Andrew Sinclair;
Melbourne, Australia

E15.2 Reproductive and adrenal development: Insights from nuclear receptor gene mutations

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 GenoDENT: A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Agnes Bloch-Zupan;
Strasbourg, France

Chair: Johan den Dunnen, Vincenzo Nigro
Room: Gold Room

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

Ralph Vogelsang, J. 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: Norine Voisin
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: Christian Gilissen, Giovanni Malerba
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: Martina Cornel, Joris Veltman
Room: Brown 3

P02.48C 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

P04.05A 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

P06.64D 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

P06.72D 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

P06.35C 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

P06.36D 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

P09.001A 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

P09.098B 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

P09.139C 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

P12.214B 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

PRESENTATION CANCELLED: P12.120D 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

P19.24D 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

P20.05A Raw Genomic Data: Storage, Access and Sharing

Mahsa Shabani*, D. Vears, P. Borry;
Leuven, Belgium

P16.40D 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: Angus Clarke, Miriam Bauwens
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

Room: Gold Room

PL3.1 Mendel Lecture: CRISPR-Cas9: How bacteria revolutionize genome engineering

Emanuelle Charpentier; tba
Berlin, Germany

Room: Gold Room

PL4.1 ESHG Award Lecture: Causes and consequences of new mutations

Matthew Hurles; tba
Hinxton, United Kingdom

Chair: Gunnar Houge, Joris Veltman

Room: Gold Room

EJHG-SN Citation Awards

ESHG Young Investigator & Poster Awards

European DNA Day Contest

Closing Address