08:30 – 10:00 hrs | Concurrent Symposia S09-12 & Educational Sessions E09-E10 & ELPAG Award Lecture A1

Chairs:  Tord Jonson, Zeynep Tümer
Room:   K2+K3

S09.1 Revealing the RNA layer of epigenome

Sheng Zhong;
United States

S09.2 The architecture and mechanical properties of the nuclear lamina

Ohad Medalia;

S09.3 3D genome organisation in disease: patient-specific chromatin interactions from primary tissue

Juanma Vaquerizas;

Chairs:   Andres Børglum, Cecilia Lindgren
Room:    F1+F2+F3

S10.1 From association to causal variant(s): statistical methods for finemapping

Christian Benner;

S10.2 Taking it further: trans-ethnic association analysis accounting for ancestry increases power for discovery and improves fine-mapping resolution

Andrew Morris;
United Kingdom

S10.3 Large scale integration of genetic and ‘omics’ data to find susceptibility genes for obesity and fat distribution

Sara Pulit;

Chairs:  Christina Fagerberg, Karin Writzl
Room:   G2+G3

S11.1 De novo variants in neurodevelopmental disorders with epilepsy

Johannes Lemke;

S11.2 Parental Mosaicism in “De Novo” Epileptic Encephalopathies

Heather Mefford;
United States

S11.3 Brain somatic mutations in malformations of cortical development with epilepsy

Stephanie Baulac;

Chairs:   Valerie Cormier-Daire, Trine Prescott
Room:    K1

S12.1 Genetic heterogeneity in CDG: where are the patients?

Gert Matthijs;

S12.2 CDG therapies

Eva Morava;
United States

S12.3 Link between Golgi ion homeostasis defects and Congenital Disorders of Glycosylation

Francois Foulquier;

Chairs:   Malte Spielmann
Room:    Hall C

E09.1 Unraveling the functional impact of thousands of p53 mutations

Eran Segal;

E09.2 Understanding the functional effects of coding variation, at scale

Lea Starita;
United States

Chairs:   Maria Jesus Sobrido
Room:    F4+F5

E10.1 Genetic diversity and its unexpected impacts on recombination, genome evolution, speciation and sterility in mammals

Simon Myers;
United Kingdom

E10.2 Meiotic recombination, gene conversion and mutation

Irene Tiemann-Boege;

Chairs:   Sam Riedijk, Ramona Moldovan
Room:    Hall H2

A1.1 ELPAG Award Lecture

Christine Patch;
United Kingdom

10:00 – 10:30 hrs | Coffee Break, Exhibition, Poster Viewing

10:15 – 11:15 hrs | Poster Viewing with Authors – Group C

11:15-12:45 hrs | Corporate Satellites

More information

11:15-12:45 hrs | Lunch Break, Exhibition, Poster Viewing

13:00 – 14:30 hrs | Concurrent Sessions C16-C23 from submitted abstracts

Chairs:  John McDermott, Hans Ehrencrona
Room:   Hall C

C16.1 What if we would turn a diagnostic multi-cancer gene panel into a screening tool?

L.F. Johansson, K.K. van Dijk-Bos, A.H. van der Hout, A.P. Knopperts, B. Leegte, J. ter Beest, Y.J. Vos, C.C. van Diemen, K. Kok, I.M. van Langen, M.A. Swertz, C. Wijmenga, R.K. Weersma, R.J. Sinke, B. Sikkema-Raddatz, R.H. Sijmons, Helga Westers;
Groningen, Netherlands

C16.2 European Landscape of CDH1 germline mutations: a new tool to understand hereditary diffuse gastric cancer (HDGC)

José García Peláez*, A. Monteiro, L. Sousa, S. Castedo, L. Garrido, G. Michils, V. Bours, R. de Putter, L. Golmard, M. Blanluet, C. Colas, P. Benusiglio, S. Aretz, I. Spier, R. Hüneburg, L. Gieldon, E. Schröck, E. Holinski-Feder, V. Steinke, D. Calistri, G. Tedaldi, G. Nadia-Ranzani, M. Genuardi, C. Silveira, M. Krajc, A. Blatnik, S. Novakovic, A. Patiño-García, J. Soto, C. Lázaro, G. Capellá, J. Brunet-Vidal, J. Balmaña, E. Domínguez-Garrido, M. Ligtenberg, E. Fewings, R. Fitzgerald, E. Woodward, G. Evans, H. Hanson, K. Lagerstedt-Robinson, S. Bajalica-Lagercrantz, M. Teixeira, N. Hoogerbrugge, M. Tischkowitz, C. Oliveira;
Porto, Portugal

C16.3 Clinical applicability of the 313-SNP based polygenic risk score for breast cancer risk prediction

Inge M.M. Lakeman*, M. Rodriguez-Girondo, A. Lee, A. Hollestelle, M.K. Schmidt, C.J. van Asperen, P. Devilee, HEBON consortium;
Leiden, Netherlands

C16.4 High polygenic risk contributes to an early disease onset in common cardiometabolic diseases and cancers

Nina J. Mars*, J. Koskela, P. Ripatti, T. Kiiskinen, A.S. Havulinna, L. Groop, A. Palotie, M. Daly, V. Salomaa, E. Widén, S. Ripatti;
Helsinki, Finland

C16.5 Clinically actionable results from a multi-gene screening panel in an unselected “healthy” Canadian population

Heather J. Andrighetti*, J.Y.J. Gu, A. Hazell, J. Furnival, M. Zarb, L. Velsher;
Toronto, Canada

C16.6 Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

L. Zhang, Y. Bao, M. Riaz, J. Tiller, D. Liew, X. Zhuang, D.J. Amor, A. Huq, L. Petelin, M. Nelson, P.J. James, I. Winship, J.J. McNeil, Paul Lacaze;
Melbourne, Australia

Chairs:  Robert Hofstra, Hildegunn Vetti
Room:   K2+K3

C17.1 Identification of lncRNA-mRNA network(s) that modulate prognosis in hepatocellular carcinoma patients

Caroline G. Lee, L.J. Lim, J. Yu, H.C. Toh, P.K.H. Chow, A.Y.F. Chung, L.L.P.J. Ooi, S.S. Chong;
Singapore, Singapore

C17.2 Germline DGCR8 p.E518K alters miRNA profiles and predisposes to thyroid goiter and schwannomatosis

Barbara Rivera*, J. Nadaf, M. Apellaniz-Ruiz, S. Fahiminiya, A. Saskin, A. Chong, S. Sharma, R. Wagener, T. Revil, Z. Harra, N. Hamel, N. Sabbaghian, K. Muchantef, C. Thomas, M. Hébert-Blouin, A. Bassenden, O. Mete, R. Paschke, M. Pusztaszeri, W. Paulus, A. Berghuis, J. Ragoussis, R. Siebert, S. Albrecht, R. Turcotte, M. Hasselblatt, M. Fabian, W. Foulkes;
Montreal, Canada

C17.3 Structural variations at CDH1 intronic cis-regulatory elements cause CDH1/E-cadherin loss of function

Rita Barbosa-Matos*, P. Oliveira, B. Mesquita, A. André, H. Pinheiro, J. Carvalho, J. Senz, P. Kaurah, R. Bordeira-Carriço, J. Bessa, D. Huntsman, A. Ferro, C. Oliveira;
Porto, Portugal

C17.4 Skipping nonsense to maintain function: the paradigm of BRCA2 exon 12

Laëtitia Meulemans*, R. Mesman, S.M. Caputo, S. Krieger, M. Guillaud-Bataille, V. Caux-Moncoutier, M. Léone, N. Boutry-Kryza, J. Sokolowska, H. Tubeuf, O. Soukarieh, F. Révillion, C. Delnatte, F. Bonnet-Dorion, V. Guibert, F. Rousselet, V. Bourdon, S. Lizard, P. Vilquin, C. Grout, A. Drouet, F.M.G.R. Calléja, L. Golmard, H. Vrieling, D. Stoppa-Lyonnet, C. Houdayer, T. Frebourg, M. Vreeswijk, A. Martins, P. Gaildrat;
Rouen, France

C17.5 Genome-wide association study identifies pathways associated with cervical cancer risk

Dhanya Ramachandran*, J. Dennis, L. Fachal, P. Schürmann, I. Runnebaum, M. Dürst, P. Hillemanns, D.F. Easton, T. Dörk;
Hannover, Germany

C17.6 Mitochondrial damage due to a genetic origin explains the autoimmune response that leads to gastric neuroendocrine tumors

Oriol Calvete, R. Marra, J. Reyes, J. Benitez;
Madrid, Spain

Chairs:  Josef Gecz, Charlotte von der Lippe
Room:   F1+F2+F3

C18.1 AAVHSC15 Packaging Human Phenylalanine Hydroxylase Results in Sustained in vivo Correction of Phenylketonuria Following a Single IV Administration in the Murine Model

Seemin S. Ahmed, M. Wang, J.L. Ellsworth, O.L. Francone, D. Faulkner, A. Sengooba, H. Rubin, S. Dollive, D. Lamppu, T. Wright, D. Kinch, A. Seymour;
Bedford, United States

C18.2 Viral vector therapy as a therapeutic option for peripheral nerve disease associated with metachromatic leukodystrophy.

Stephanie K. Newman*, T. Rupar;
London, Canada

C18.3 Safe and efficient personalised TALEN- and CRISPR/Cas9-based gene correction therapy for β-thalassaemia by non-viral delivery to primary cells

Petros Patsalis*, G. Turchiano, P. Papasavva, M. Romito, C. Loucari, C. Stephanou, S. Christou, M. Sitarou, C. Mussolino, T.I. Cornu, M.N. Antoniou, C.W. Lederer, T. Cathomen, M. Kleanthous;
Nicosia, Cyprus

C18.4 Therapeutic gene editing for Hutchinson-Gilford progeria syndrome

Daniel Whisenant*, K. Lim, G. Revêchon, M. Eriksson, J.S. Kim;
Huddinge, Stockholm, Sweden

C18.5 High efficiency of CRISPR/Cas9 gene editing of T158Mhot spot mutation in MECP2 gene

Susanna Croci*, S. Daga, K. Capitani, F. Donati, M.L. Carriero, E. Frullanti, V. Lamacchia, R. Tita, A. Giliberti, E. Benetti, S. Furini, C. Lo Rizzo, A.M. Pinto, A. Auricchio, S.G. Conticello, A. Renieri, I. Meloni;
Siena, Italy

C18.6 An open-label, phase 1/2 study of miransertib (ARQ 092), an oral pan-AKT inhibitor, in patients (pts) with PIK3CA-related Overgrowth Spectrum (PROS) and Proteus Syndrome (PS): study design and preliminary results(NCT03094832).

G. Zampino, Chiara Leoni, P.S. Buonuomo, I. Rana, R. Onesimo, M. Macchiaiolo, A. Diociaiuti, S. Livadiotti, N. Resta, Y. Sheldon, R. Savage, M. Lamar, K. Tith, J. Kazakin, B. Schwartz5, D.M. Adams, A. Bartuli;
Rome, Italy

Chairs:   Ellen Heitzer, Oloug Rødningen
Room:   F4+F5

C19.1 Phasing of complex genomic rearrangements reveal involvement of both homologous chromosomes in pre- and post-zigotic events

Claudia M. Carvalho, C. Beck, Z. Akdemir, F. Sedlazeck, Q. Meng, J. Hu, H. Doddapaneni, E. Chen, S. Jhangiani, A. English, D. Muzni, R. Gibbs, C. Shaw, P. Hastings, J.R. Lupski;
Houston, United States

C19.2 Cytogenetically detected chromosomal inversions are rarely formed by ectopic recombination between inverted repeats

Maria Pettersson*, C.M. Grochowski, J. Eisfeldt, J. Wincent, J.R. Lupski, J. Ottosson, L. Lovmar, J. Gacic, E. Syk Lundberg, D. Nilsson, C.M.B. Carvalho, A. Lindstrand;
Stockholm, Sweden

C19.3 Optical mapping of 22q11.2 low copy repeats reveals structural hypervariability

Lisanne Vervoort*, W. Demaerel, Y. Mostovoy, F. Yilmaz, S. Pastor, M. Hestand, A. Swillen, E. Vergaelen, E.A. Geiger, C.R. Coughlin, S.K. Chow, D. McDonald-McGinn, B.E. Morrow, P. Kwok, M. Xiao, B.S. Emmanuel, T.H. Shaikh, J.R. Vermeesch;
Leuven, Belgium

C19.4 Submicroscopic 13q32.1 deletions causing congenital microcoria modify the regulatory landscape of neighboring genes by enhancer adoption.

LUCAS Fares Taie, B. Nedelec, P. David, C. Angée, S. Crippa, B. Passet, J. Vilotte, N. Chassaing, J. Kaplan, C. Kostic, P. Calvas, J. Rozet;
Paris, France

C19.5 First estimation of the scale of canonical 5′ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

J.H. Lin, X.Y. Tang, A. Boulling, W.B. Zou, E. Masson, Y. Fichou, L. Raud, M. Le Tertre, S.J. Deng, I. Berlivet, C. Ka, M. Mort, M. Hayden, G. Le Gac, D.N. Cooper, Z.S. Li, C. Férec, Z. Liao, Jian-Min M. Chen;
Brest, France

C19.6 Novel regulatory elements control translation of key stress response factors linked to disease

Justin Rendleman*, V. Hronová, D. Sultanov, S. Maity, A. Lei, M. Hatzoglou, L. Valášek, C. Vogel;
New York, United States

Chairs:  Elsebet Østergaard, André Reis
Room:   G2+G3

C20.1 Large clinical cohort undergoing simultaneous single nucleotide and copy number variant analysis reveals broad mutation spectrum and high diagnostic yield for neuromuscular disorders

Emily Decker, T.L. Winder, C.A. Tan, S. Klemm, H. White, J.M. Westbrook, J. Wang, A. Entezam, R. Truty, E. McNally, S. Aradhya;
San Francisco, United States

C20.2 Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy

Natalia Mendoza Ferreira*, M. Karakaya, I. Hölker, D. Beijer, B. Schrank, K. Brigatti, C. Gonzaga-Jauregui, E. Puffenberger, G. Wunderlich, P. De Jonghe, T. Deconinck, K. Strauss, J. Baets, W. Brunhilde;
Cologne, Germany

C20.3 Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Elisa Fernández-Núñez*, M. Estañ, M.S. Zaki, M. Esteban, S. Donkervoort, C. Hawkins, J.A. Caparros-Martin, D. Saade, Y. Hu, V. Bolduc, K. Chao, J. Nevado, A. Lamuedra, R. Largo, G. Herrero-Beaumont, J. Regadera, C. Hernández-Chico, E.F. TIzzano, V. Martinez-Glez, J.J. Carvajal, R. Zong, D. Nelson, G.A. Otaify, S. Temtamy, M. Aglan, M. Issa, C.G. Bönnemann, P. Lapunzina, G. Yoon, V.L. Ruiz-Perez;
Madrid, Spain

C20.4 Novel mutations in MYBPC1 associated with myogenic tremor

Janis Stavusis, J. Geist, B. Lace, N. Wright, D. Haubenberger, C. Bonneman, C. Ward, A. Kontrogianni-Konstantopoulos;
Riga, Latvia

C20.5 Absence of NFASC isoform NF186 causes an autosomal recessive ataxia syndrome

Malin Kvarnung*, M. Shahsavani, F. Taylan, N. Breeuwsma, L. Laan, J. Schuster, Z. Jin, D. Nilsson, A. Lieden, B. Anderlid, M. Nordenskjöld, E. Syk Lundberg, B. Birnir, N. Dahl, A. Nordgren, A. Lindstrand, A. Falk;
Stockholm, Sweden

C20.6 Peripheral monitoring of neurodegeneration using cell-free DNA methylation

Zac Chatterton, R. Landin-Romero, C.T. Liang, K. Phan, W. Carr, G. Kamimori, M. Beeri, Y. Ge, A. Dwork, F. Haghighi, O. Piguet, G. Halliday, J. Kwok;
Camperdown, Australia

Chairs:  Marte Gjøl Haug, Ales Maver
Room:   K1

C21.1 Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

Arjan Houweling, G. Beaman, A. Postma, B. Gainous, K. Lichtenbelt, F. Brancati, F. Lopes, I. van der Made, A. Polstra, M. Robinson, K. Wright, A. Jackson, R. Genesio, L. Camerota, E. D’Angelo, E. Meijers-Heijboer, V. Christoffels, K. McHugh, B. Black, W. Newman, A. Woolf, E. Creemers;
Amsterdam, Netherlands

C21.2 Rare heterozygous deleterious GDF6 variants in patients with renal anomalies

Helge Martens*, I. Hennies, M. Getwan, A. Kosfeld, F. Brand, A. Weiss, A. Gjerstad, Z. Gucev, R. Geffers, A. Christians, T. Seeman, A. Kispert, V. Tasic, A. Bjerre, S.S. Lienkamp, D. Haffner, R.G. Weber;
Hannover, Germany

C21.3 Exome sequencing identifies phenocopies in every fifth solved case in a cohort of 174 patients with hereditary nephropathies

Korbinian M. Riedhammer, M.C. Braunisch, R. Guenthner, M. Wagner, B. Uetz, B. Lange-Sperandio, J. Hoefele;
Munich, Germany

C21.4 Novel C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Mathilda Bedin*, O. Boyer, A. Servais, L. Villoing-Gaudé, O. Gribouval, C. Bole, F. Jabot-Hanin, P. Nitschké, C. Antignac, M. Simons;
Paris, France

C21.5 Genome-wide association study of MRI liver iron content in 9,800 individuals yields new insights into its link with hepatic and extrahepatic diseases

H.R. Wilman, C.A. Parisinos, N. Atabaki-pasdar, M. Kelly, E.L. Thomas, S. Neubauer, A. Hingorani, A. Mahajan, R. Patel, H. Hemingway, P.W. Franks, J. Bell, R. Banerjee, Hanieh Yaghootkar;
Exeter, United Kingdom

C21.6 Complex compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway

Justyna A. Karolak, M. Vincent, G. Deutsch, T. Gambin, B. Cogné, O. Pichon, H.C. Mefford, J.N. Dines, M. Dishop, D. Mowat, A.J. Gifford, A.F. Lee, C.F. Boerkoel, T.M. Bartell, C. Ward-Melver, T. Besnard, F. Petit, I. Bache, Z. Tümer, M. Denis-Musquer, M. Joubert, J. Martinovic, E. Bieth, N. Chassaing, L. Devisme, L. Pasquier, M. Don, M. Orsaria, S. Küry, S. Bézieau, D.A. Scott, C.W. Brown, F. Scaglia, A.C. Tsai, W.K. Chung, G. Schauer, C.L. Mercer, A. van Haeringen, Q. Liu, E. Popek, Z.H. Coban Akdemir, J.R. Lupski, P. Szafranski, B. Isidor, C. Le Caignec, P. Stankiewicz;
Houston, United States

Chairs:  Charlotta Ingvoldstad Malmgren, Rebecca Ann Pestoff
Room:   H2

C22.1 “To find out if it’s genetic or not”: Motivations, concerns and perceived impact of genome sequencing among young people

Celine Lewis, C. Patch, M. Hill, L.S. Chitty, S.C. Sanderson;
London, United Kingdom

C22.2 Genetic health professionals’ experiences returning results from diagnostic genomic sequencing to patients

Danya F. Vears*, K. Sénécal, P. Borry;
Parkville, Australia

C22.3 Parent experiences with ultra-rapid genomic sequencing in paediatric acute care

Gemma R. Brett, M. Martyn, M. de Silva, K. Boggs, A. Baxendale, S. Borrie, S. King-Smith, S. Ayres, L. Gallacher, J. Pinner, S. Sandaradura, M. Wilson, C. Barnett, C. Patel, A. Vasudevan, E. Krzesinski, S. Lunke, Z. Stark;
Melbourne, Australia

C22.4 The French FIND study (preliminary results). Psychological effects of actionable secondary findings obtained from exome sequencing in patients/families with undiagnosed rare diseases.

Françoise Houdayer, A. Chassagne, A. Pélissier, C. Peyron, S. Staraci, D. Sanlaville, P. Edery, M. Rossi, G. Lesca, A. Putoux, L. Pons, A. Cadenes, A. Baurand, C. Sawka, G. Bertolone, M. Spentchian, M. Yousfi, D. Salvi, E. Gautier, A. Vitobello, A. Dénommé-Pichon, A. Faudet, B. Keren, A. Labalme, N. Chatron, C. Abel, S. Dupuis-Girod, A. Poisson, J. Buratti, C. Mignot, A. Afenjar, S. Whalen, P. Charles, S. Heide, L. Mouthon, C. Thauvin-Robinet, C. Philippe, F. Tran Mau-Them, S. Moutton, A. Sorlin, S. Nambot, C. Binquet, D. Héron, M. Gargiulo, L. Faivre;
Bron, France

C22.5 Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies

Mahsa Shabani*, S. Dyke, L. Marelli, P. Borry;
Leuven, Belgium

C22.6 Are requirements to deposit data in research repositories compatible with the GDPR?

Deborah Mascalzoni, H.B. Bentzen, I. Budin-Ljøsne, L.A. Bygrave, J. Bell, E.S. Dove, C. Fuchsberger, K. Hveem, M.T. Mayrhofer, V. Meraviglia, D.R. O’Brien, C. Pattaro, P.P. Pramstaller, V. Rakić, A. Rossini, M. Shabani, D.J.B. Svantesson, M. Tomasi, L. Ursin, M. Wjst, J. Kaye;
Bolzano, Italy

Chairs:  Joris Veltmann, Gunnar Houge
Room:   Live Stream Area (Exhibition Hall)

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited rod-dominated retinal disease

Stijn Van de Sompele*, C. Smith, M. Karali, M. Corton, K. Van Schil, F. Peelman, T. Cherry, T. Rosseel, H. Verdin, J. Derolez, T. Van Laethem, K.N. Khan, M. McKibbin, C. Toomes, M. Ali, A. Torella, F. Testa, B. Jimenez, F. Simonelli, J. De Zaeytijd, J. Van den Ende, B.P. Leroy, F. Coppieters, C. Ayuso, C.F. Inglehearn, S. Banfi, E. De Baere;
Ghent, Belgium

Diagnostic yield of whole exome sequencing-based genetic testing for patients with inherited eye diseases

K. Wells, K. Kämpjärvi, Emma Mårtensson, M. Mehine, J. Känsäkoski, L. Sarantaus, H. Västinsalo, J. Schleit, I. Saarinen, M. Muona, S. Myllykangas, T. Alastalo, J.W. Koskenvuo, S. Tuupanen;
Helsinki, Finland

Mutations in PLS1, encoding fimbrin, cause autosomal dominant non-syndromic hearing loss (ADNSHL).

Anna Morgan*, D. Koboldt, E. Barrie, E. Crist, M. Mezzavilla, F. Faletra, T. Mosher, R. Wilson, K. Manickam, P. Gasparini, D. Dell’Orco, G. Girotto;
Trieste, Italy

Mutations in genes involved in MAPK pathway cause lymphatic anomalies

Dong Li;
Philadelphia, United States

Biallelic variants in DYNC1I2 cause syndromic microcephaly with intellectual disability, global developmental delay and dysmorphic facial features

Erica E. Davis, M. Ansar, F. Ullah, S.A. Paracha, D.J. Adams, A. Lai, L. Pais, J. Iwaszkiewicz, F. Millan, M.T. Sarwar, Z. Agha, S.F. Shah, A.A. Qaisar, E. Falconnet, V. Zoete, E. Ranza, P. Makrythanasis, F.A. Santoni, J. Ahmed, N. Katsanis, C. Walsh, S.E. Antonarakis;
Durham, United States

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Diana Le Duc*, C. Giulivi, S.M. Hiatt, E. Napoli, A. Panoutsopoulos, A. De Crescenzo, U. Kotzaeridou, S. Syrbe, E. Anagnostou, M. Azage, R. Bend, A. Begtrup, N.J. Brown, B. Büttner, M.T. Cho, G.M. Cooper, J.H. Doering, C. Dubourg, D.B. Everman, M.S. Hildebrand, F.J. Reynoso Santos, B. Kellam, J. Keller-Ramey, J.R. Lemke, S. Liu, D. Niyazov, K. Payne, R. Person, C. Quélin, R.E. Schnur, B.T. Smith, J. Strober, S. Walker, M. Wallis, L. Walsh, S. Yang, R. Yuen, A. Ziegler, H. Sticht, M.C. Pride, V. Martínez-Cerdeño, J. Silverman, S.W. Scherer, K.S. Zarbalis, R. Abou Jamra;
Leipzig, Germany

Inactivation of KLHL24 results in myopathy and cardiomyopathy

Carola Hedberg-Oldfors, A. Abramsson, D. Osborn, O. Danielsson, A. Fazlinezhad, Y. Nilipour, L. Hübbert, I. Nennesmo, K. Visuttijai, J. Bharj, E. Petropoulou, A. Shoreim, B. Vona, N. Ahangari, M. Dávila López, M. Doosti, R. Kumar Banote, R. Maroofian, M. Edling, M. Taherpour, H. Zetterberg, E. Ghayoor Karimiani, A. Oldfors, Y. Jamshidi;
Gothenburg, Sweden

Genetic analysis of autosomal dominant motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough

Shiroh Miura, K. Kosaka, R. Fujioka, S. Mori, H. Shibata;
Kurume, Japan

49 novel recessive candidate genes for intellectual disability and visual impairment in 350 consanguineous families

Stylianos E. Antonarakis, S.A. Paracha, S. Imtiaz, A. Nazir, Y.M. Waryah, P. Makrythanasis, S. Qureshi, J. Khan, E. Falconnet, M. Guipponi, C. Borel, M.A. Ansari, E. Frengen, E. Ranza, F.A. Santoni, I. Shah, K. Gul, J. Ahmed, M.T. Sarwar, A.M. Waryah, M. Ansar;
Geneva, Switzerland

Gating-affecting mutations in KCNK4 cause a recognizable neurodevelopmental syndrome

Francesca Clementina C. Radio, P. Calligari, V. Caputo, M.L. Dentici, N. Falah, F. High, F. Pantaleoni, S. Barresi, A. Ciolfi, S. Pizzi, A. Bruselles, R. Person, S. Richards, M.T. Cho, D.J. Claps Sepulveda, S. Pro, R. Battini, G. Zampino, M.C. Digilio, G. Bocchinfuso, B. Dallapiccola, L. Stella, C.K. Bauer, M. Tartaglia;
Rome, Italy

SEC31A mutation affects ER homeostasis, causing neurological syndrome

Daniel Halperin*, R. Kadir, Y. Perez, M. Drabkin, Y. Yogev, O. Wormser, E. Berman, E. Eremenko, B. Rotblat, Z. Shorer, L. Gradstein, I. Shelef, R. Birk, U. Abdu, H. Flusser, O.S. Birk;
Beer-Sheva, Israel

Genomic overlap between neurodevelopmental disorders and congenital heart defects

S. Safizadeh Shabestari, S. Sopariwala, A. Ali, N. K. Al Jezawi, G. Begum, B. Berdiev, S. W. Scherer, A. Alsheikh-Ali, A. AlBanna, A. Tayoun, M. Speevak, D. J. Stavropoulos, M. Uddin;
Dubai, United Arab Emirates

Genetic counselling for the Inuit indigenous population of Nunavut, Canada: an exercise in cultural competency

Mireille Cloutier;
Ottawa, Canada

The discussion of uncertainty concerning multigene panel testing during cancer genetic counseling. An observational study.

Niki M. Medendorp, M.A. Hillen, P.E.A. van Maarschalkerweerd, C.M. Aalfs, M.G. Ausems, S. Verhoef, L.E. van der Kolk, L.P.V. Berger, M.R. Wevers, A. Wagner, B.A.H. Caanen, A.M. Stiggelbout, E.M.A. Smets;
Amsterdam, Netherlands

14:30 – 15:00 hrs | Fruit Break, Exhibition, Poster Viewing

15:00-16:30 hrs | Workshops W12-W18

Room: Hall C

Workshop Organisers:  Jill Clayton-Smith, Sofia Douzgou, Dian Donnai

About the workshop:

We invite all those working in the field of syndrome diagnosis, and those who wish to learn more about the art and science of Dysmorphology, to attend this session. Please participate by bringing along short PowerPoint presentations of your distinctive unsolved cases or your instructive solved cases to one of the two Dysmorphology workshops. Even if you do not have cases to bring, we also encourage workshop attendees to share their knowledge of dysmorphology and broader genetic mechanisms by participation in the case discussions. As we move further into the genomic era we anticipate more discussion around variant interpretation and so we would also welcome experts in this area to join us.

We also welcome “solved” cases that you may have presented as unknowns at the ESHG in previous years, but where you now have an answer. These are very interesting and instructive for the audience.

Presentation Format:

Presentations should include no more than 6 slides and you should aim to present your case in 3 minutes, leaving some time for discussion.  Slides should cover the main points of the history, include good quality clinical photos of the most distinctive features and give results of investigations undertaken. Although we do not necessarily expect every patient to have had whole genome or exome sequencing, cases must have undergone a reasonable diagnostic workup before presentation and permission should have been sought from patients/parents for presentation.

Please being your presentations on a memory stick to the respective lecture hall 30 minutes before the sessions begin to book your place for presentation.

We look forward to seeing you!

Room:  K2+K3

Workshop Organisers:  Nicole de Leeuw, Erica Gerkes, Zeynep Tümer

About the workshop:

Various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting will be discussed in this interactive session. The aim of this workshop is to focus on various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting. We will talk about multi-, intra- and intergenic CNVs detected by genome wide array analysis, but also CNV detection in Whole Exome/Genome Sequencing data will be included. We will use illustrative cases from our own diagnostic laboratories to have an interactive discussion on the more challenging findings, including reduced-penetrant, recurrent CNVs and structurally rearranged chromosomal imbalances as well as patients with compound heterozygous variants in a recessive disease gene. We will have an app-based feedback system available for this interactive session, so please bring your smart phone, tablet or laptop.

Programme Overview:

Inherited CNVs: the good, the bad, and the (very) rare
Nicole de Leeuw, University Medical Center Nijmegen, Netherlands

Unexpected results with a merciful ending
Erica Gerkes, University Medical Center Groningen, Netherlands

From selected abstracts (see below)
moderated by Zeynep Tümer, Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Denmark

  • Gain-of-function trypsinogen copy number variants causing chronic pancreatitis: types, generative mechanisms and genotype/phenotype relationship – Férec C, Inserm, Brest France
  • The potential of array- and NGS-based diagnostics: a FOXP1 mutation, a distal 16p11.2 microdeletion and 45,X/46,XX mosaicism explaining the phenotype, and a pre-CLL as an incidental finding – Berland  S, Dept Medical Genetics, Haukeland University Hospital, Bergen, Norway
  • CNV within CNV: multi-allelic variation of flanking low-copy repeat number modifies phentoype penetrance in 16p11.2 deletion – Giannuzzi G, University of Lausanne, Switzerland
  • Title to be announced – Wakeling M, University of Exeter Medical School, Exeter, UK
  • Fanconi anemia due to homozygous deletion in FANCA which was diagnosed by evaluating low coverage regions – Dogan ÖA, Dept Pediatric Genetics, Umraniye Education and Research Hospital, İstanbul, Turkey

Room:  F1+F2+F3

Workshop Organisers:  Asbjørg Stray-Pederson, Lucy Raymond

Targeted newborn screening versus genome wide newborn testing

About the workshop:
New treatment opportunities for congenital disorders challenge old statements and strategies for newborn screening. For many of the severe and treatable congenital disorders no biochemical marker can be used for screening purposes, while genetic testing may rapidly identify disease risk alleles. Effective therapies introduced before manifestation of symptoms may ameliorate disease and result in better long term outcome, also for disorders not regarded as severe and life-threatening, such as early onset retinal dystrophy. In this workshop we want to discuss current status for newborn screening in Europe in light of the implementation of NGS in health care moving towards offering babies without symptoms broad genetic testing.

Programme Overview:

Lucy Raymond, United Kingdom

Genomic sequencing in Newborn Screening Programs – ethical considerations
Pascal Borry, Belgium

Genomic sequencing of healthy babies – Are we there yet?
Pankaj Agrawal, United States

NGS in newborn screening in Europe, current status
Asbjørg Stray-Pedersen, Norway

Panel Discussion
Pascal Borry (Belgium), Pankaj Agrawal (United States), Lucy Raymond (United Kingdom), Asbjørg Stray-Pedersen (Norway)

Room:  F4+F5

Workshop Organisers:  Conxi Lazaro, Carla Oliveira

About the workshop:

This workshop is about European Reference Networks (ERNs), which are virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex or rare diseases and conditions that require highly specialized treatment, and concentrated knowledge and resources. This workshop intends to increase awareness of health professionals and scientists working in the field of Genetics in Europe, about these Networks. Attendees will learn about the novel and disruptive concept of ERNs, how to participate in these new networks as well as how to participate in these new organisational culture.

15:00 – 15:10
Introduction: What are ERNs and why were they created?
Birute Tumiene, ESHG Board and ERN Board of Member States, Vilnius University Hospital, Lithuania

15:10 – 15:20
The role of European Patient Advocacy Groups (ePAG) in ERNs
Matt Bolz-Johnson, ERN & Healthcare Advisor EURORDIS

15:20 – 15:30
The role of the Genetics Community in ERNs and the Solve-RD link
Olaf Riess, Co-Coordinator Solve-RD project, Universitätsklinikum Tübingen, Germany

15:30 – 15:45
Round Table, Q&A

15:45 – 15:55
Clinical patient management system (CPMS), Data collection and registries
Alesandra Ferlini, Medical Genetics coordinator ERN on neuromuscular diseases (ERN EURO-NMD), Section of Medical Genetics, University of Ferrara, Italy

15:55 – 16:05
Knowledge generation: guidelines and implementation
Nicoline Hoogerbrugge, Coordinator ERN on genetic tumour risk syndromes (ERN GENTURIS), Radboud University Medical Center Nijmegen, The Netherlands

16:05 – 16:15
Spreading the knowledge at the National level
Elke Holinski-Feder, Coordinator of national coordinators ERN GENTURIS, MGZ, Medical Genetics Center Munich, Germany

16:15 – 16:30
Round table, Q&A

Room:  G2+G3

Workshop Organisers:  Francesca Forzano, Martina Cornel

Opportunistic genetic screening in diagnostics and research: a European perspective

The European Society of Human Genetics (ESHG) has released Recommendations on WGS in health care in 2013, according to which genomic analysis should be as targeted as possible. In the same year, the American College of Medical Genetics and Genomics (ACMG) recommended to purposely analyze a series of ‘actionable mutations’ in every case a clinical sequencing would have taken place, a strategy defined as ‘opportunistic screening’ (OS). More recently, several OS initiatives in genomic medicine have been set in individual European countries, including the UK, France and Belgium, often with discordant procedures. The rapid scientific advances in NGS and the divergences between different views and initiatives in OS, require a renewed discussion on the rationale and the strategies. The ESHG will contribute to this debate by means of Recommendations, currently in their draft phase.

EU survey on Opportunistic Screening practices and views
Heidi Howard, Sweden

PPPC-Eurogentest draft recommendations on Opportunistic Screening
Guido De Wert, The Netherlands

French Society of Predictive and Personalized Medicine Guidelines for reporting secondary findings of genome sequencing in cancer genes
Pascal Pujol, France

Panel Discussion
Sandi Deans (United Kingdom), Milan Macek (Czech Republic), Heidi Howard (Sweden), Guido De Wert (The Netherlands), Pascal Pujol (France)

Room:  K1

Workshop Organiser:  Emily Perry

Programme overview:

The Ensembl Variant Effect Predictor (VEP) allows analysis of variants from sequencing experiments to determine the likely effect of the variants on genes, allowing for the prioritisation for further experiments. This workshop will familiarise the audience with general usage of the VEP, as well as two specialised use-cases: analysis of a short list of variants from GWAS to identify likely indirect effects on genes and analysis of genome-wide data to identify variants likely to cause rare disease. Participants who bring their own laptops will have a chance to try out using the VEP online, as well as run VEP jobs using the script, by downloading Docker images.


Emily Perry, Ensembl Outreach Project Leader
Irina Armean, Ensembl Variation Bioinformatician

Room:  H2

Workshop Organisers:  Vita Dolzan, Volker Lauschke, Andrea Gaedigk

About the Workshop:
It is widely acknowledged that inherited genetic variations in genes implicated in drug pharmacokinetics and drug response may modulate treatment efficacy or predispose to adverse drug reactions. The current treatment recommendations are largely focused on common functional pharmacogenetic polymorphisms. Although recent sequencing projects revealed a large number of rare genetic variants in genes encoding proteins involved in drug metabolism, transport, and response, there are still many obstacles to be overcome, before NGS-based test results can be integrated into personalized drug treatment.

The workshop aims to address the following questions:
Are these rare genetic variants revealed by NGS data likely to account for a substantial part of the unexplained inter-individual differences in drug metabolism phenotypes?
Will the information revealed by NGS data add important information to predict drug response and provide useful information for personalization of pharmacological treatment?
Are the resources and tools available to translate the genotyping data into the clinically meaningful phenotypes with drug prescribing information?

In the first part of workshop, Volker Lauschke will focus on computational interpretation of the putative functional consequences of genetic variants and will also demonstrate how to use ANNOVAR to assess genetic variation using >15 computational algorithms.

In the second part of workshop, Andrea Gaedigk will introduce participants to pharmacogenetic (PGx) resources such as PharmVar, PharmGKB, CPIC and the PGRN. The participants will be able to learn what kind of pharmacogenetic information these resources provide and how to actively engage using live demonstrations of respective websites.

Questions and feedback are actively encouraged not only during the Discussion but also throughout the presentations. Exemplary analyses can be run on variants suggested by the audience.

Programme Overview:

Welcome and opening remarks
Vita Dolžan, Slovenia

Implementation of Next Generation Sequencing into clinical advice – challenges and opportunities
Volker Lauschke, Sweden

Drug metabolizer phenotpes, star alleles, or gene activity scores: how to move forward to clinical practice
Andrea Gaedigk, United States

Discussion, Q & A

15:00-16:30 hrs | Corporate Satellites

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16:30 – 17:00 hrs | Coffee Break, Exhibition, Poster Viewing

16:45 – 17:45 hrs | Poster Viewing with Authors – Group D

17:45 – 19:15 hrs | Concurrent Symposia S13-S16 & Educational Sessions E11-E12

Chairs:  Svetlana Bajalica-Lagercrantz, Conxi Lazaro
Room:   K2+K3

S13.1 Understanding mutational processes and tumor biology

Abel González-Pérez;

S13.2 Finding a germline mutation during tumor testing: implications for the patient and the family

Jeffrey Weitzel;
United States

S13.3 Liquid biopsy to follow clonal evolution in cancer

Benedetta Mussolin;

Chairs:  Birgitte Dinness, Francesca Forzano
Room:   F1+F2+F3

S14.1 Introduction

Vivienne Parry;
United Kingdom

S14.2 Genetics and Social Media

Ellen Matloff;
United States

S14.3 Human germline genome editing: The public and the pundits

Francoise Baylis;

Chairs:  Elfride de Baere, Martin Kircher
Room:   G2+G3

S15.1 Enhancer Logic and Mechanics in Development and Disease

Delphine Douillet;
United States

S15.2 Regulation of disease-associated gene expression in the 3D genome

Wouter De Laat;

S15.3 Identifying DNA-regulatory elements in non-traditional model systems

David Garfield;

Chairs:  Lude Franke, Johannes Kettunen
Room:   K1

S16.1 Leveraging polygenic signals for insight into disease biology

Hilary Finucane;
United States

S16.2 Genetic instruments in mendelian randomization studies

George Davey-Smith;
United Kingdom

S16.3 Large-scale inference of human genetic data

Manuel Rivas;
United States

Chairs:  Asbjørg Stray-Pederson
Room:   Hall C

E11.1  The landscape of genomic alteration across childhood cancers

Natalie Jäger ; Germany

E11.2 Rapid NGS for children in intensive care units

Lucy Raymond ; United Kingdom

Chairs:  Alexandre Reymond
Room:   F4+F5

E12.1 Systematic analysis of genetic interactions: from yeast to human

Jolanda Van Leeuwen;

E12.2 Epistasis in Cardiac defects

Bart Loeys;

19:15-20:45 hrs | Corporate Satellites

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