Saturday, June 152019-04-17T10:57:27+00:00
Sunday

08:00 – 10:00 hrs | Educational Session E01

10:00 – 11:30 hrs | Corporate Satellites

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10:30 – 12:00 hrs | Educational Sessions E02-E04 & Workshops W01-W04

Chair:   Carla Oliveira
Room:  K2+K3

E02.1 DNA methylation-based immune response in cancer

François Fuks;
Belgium

E02.2 Cell-type heterogeneity and systems epigenomics of cancer

Andrew E. Teschendorff;
United Kingdom


Chair:   Edward Dove
Room:  F4+F5

E03.1 Preparing for genomic medicine: a real world demonstration of health system change

Clara Gaff;
Australia

E03.2 Personalised Medicine and clinical practice: what it means for patients and healthcare delivery

William Newman;
United Kingdom

Chair:   Maria Soller
Room:  K1

E04.1 Using GTEx to understand complex diseases

Alexis Battle;
United States

E04.2 Tissue-specific enhancer and promoter evolution in mammals

Paul Flicek;
United Kingdom

Room:  Hall C

Workshop Organisers:   Gijs Santen, Helger Yntema, Weronika Gutowska-Ding

About the Workshop:

Last year the NGS in the clinic workshop had several talks about errors in bio-informatic pipelines. These talks inspired us to think about how we as a community can learn from each other’s mistakes. Although it can sometimes be difficult to share mistakes with colleagues, we have to put the patient’s interest first and learn from them!

We have therefore made a questionnaire to ask the diagnostic and research community if there is a need for a platform to share pitfalls, and how we should go about this. We invite everyone interested to complete the questionnaire, which can be found here: https://www.research.net/r/NGSerrors

The 2019 workshop will build on last year’s workshop. We will start with two speakers, follow with the results of our questionnaire and end with a 45-min interactive debate on the next steps, using provocative statements to spark the discussion.

Programme Overview:

10:30-10:45
Common mistakes and challenges in clinical NGS QC/QA
Christophe Roos, Euformatics Oy

10:45-11:00
Bio-informatic learnings from the 100.000 genomes project
Michael Muller, Genomics England

11:00-11:15
Presentation of questionnaire results

11:15-12:00
Discussion with statements ‘How to use NGS mistakes to help patients’

Room: F1+F2+F3

EMPAG Track

Workshop Organisers:   Vogel, Joris Vermeesch, Sam Riedijk

10:30-10:35
Welcome and presentation of the workshop
Chair Ida Vogel

10:35-10:45
Prenatal screening in US anno 2019
Ronald Wapner, United States

10:45-10:55
Prenatal screening in Denmark anno 2019
Olav Bjørn Petersen, Denmark

10:55-11:05
Prenatal screening in Belgium anno 2019
Joris Vermeesch, Belgium

11:05-11:15
Diversity in prenatal screening
Sam Riedijk, The Netherlands

11:15-11:35
Panel discussion
Can we ever obtain international guidelines on prenatal diagnosis after 2019?

11:35-12:00
Discussion with the audience

Room: G2+G3

Workshop Organiser: Roy Sheppard, United Kingdom

How to present – How to network – How to enhance your career

  • Do you brighten a room when you walk in, or when you leave?
  • What do your colleagues say about you behind your back?

How you are perceived has a profound effect on your ability to attract professional opportunities into your life.

This thought-provoking and entertaining session will provide you with practical ideas, new skills and strategies to help you develop your career.

For example, everyone knows that being well-connected and meeting new people is important, but what if you’re a quiet type who dreads networking and the ‘torture’ of making small talk? You can learn how to appear more confident whilst remaining true to yourself.

Similarly, the best future opportunities invariably go to those who know how to present their ideas to large and small groups more clearly and confidently.

In this packed session, Roy Sheppard will also share the secrets that professional speakers use to deliver engaging and impactful presentations.

Room: H2

Workshop Organiser:  Maya Ghoussaini

Open Targets Genetics: Integrating evidence from genome-wide associations and functional genomics to identify and prioritise drug targets

The workshop will focus on Open Targets Genetics (genetics.opentargets.org), a portal that uses a wide range of biological resources including NHGRI-EBI GWAS Catalog, UK Biobank, GTEx,  pQTL and chromatin interaction features enabling users to access an interactive visualisation of summary statistics plots along with fine-scale mapping, trait co-localisation, and gene prioritisation.

Participants will be able to use Open Targets Genetics to visualise and establish links between genes, variants, and diseases,  find shared susceptibility loci between different traits, investigate molecular trait-disease colocalisation and prioritise drug targets for their disease of interest.

The workshop will start with a short presentation followed by a live demo of the Open Targets Genetics portal and the functionality it offers. Participants will work through hands-on interactive exercises to familiarise themselves with the portal and datasets and conduct downstream analysis for their GWAS findings to prioritise drug targets.

Workshop Speakers:

Maya Ghoussaini
Ellen Schmidt
Edward Mountjoy
Gareth Peat

12:00 – 14:00 hrs | Lunch Break, Exhibition, Poster Viewing

12:15 – 13:45 hrs | Corporate Satellites

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14:00 – 16:00 hrs | Plenary Session PL1

Chairs:   Gunnar Houge, Joris Veltman
Room:   Hall C

PL0.1 Presidential Address

Gunnar Houge;
President of the European Society of Human Genetics
Bergen, Norway

PL0.2 Welcoming Address

Magnus Burstedt;
President of the Swedish Society of Medical Genetics and Genomics
Gothenburg, Sweden

PL0.3 Welcoming Address

Håkan Eriksson;
Deputy Lord Mayor on behalf of
City of Gothenburg and Region Västra Götaland

Chairs:   Gunnar Houge, Joris Veltman
Room:   Hall C

PL1.1 Genetic epidemiology of colorectal cancer – from discovery to prevention

Ulrike Peters;
United States

PL1.2 Single Cell transcriptional analysis of early human embryo development and stem cells

Frederik Lanner;
Sweden

PL1.3 Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Guillaume Canaud;
France

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

16:30 – 18:00 hrs | Plenary Session PL2

Chairs:   Gunnar Houge, Joris Veltman
Room:   Hall C

PL2.1 The single-cell transcriptional landscape of mammalian organogenesis

Malte Spielmann, J. Cao, X. Qiu, X. Huang, D.M. Ibrahim, A.J. Hill, F. Zhang, S. Mundlos, L. Christiansen, F.J. Steemers, C. Trapnell, J. Shendure;
Berlin, Germany

PL2.2 Chromatin 3D interactions mediate genetic effects on gene expression

Olivier Delaneau, M. Zazhytska, C. Borel, G. Giannuzzi, G. Rey, C. Howald, H. Ongen, K. Popadin, D. Marbach, G. Ambrosini, D. Bielser, D. Hacker, L. Romano-Palumbo, P. Ribaux, E. Falconnet, P. Bucher, S. Bergmann, S. Antonarakis, A. Reymond, E. Dermitzakis;
Lausanne, Switzerland

PL2.3 Insights from the largest genetic study of sporadic and recurrent miscarriage

Triin Laisk*, A. Soares, T. Ferreira, J.N. Painter, S. Laber, J. Bacelis, C. Chen, M. Lepamets, K. Lin, S. Liu, I.Y. Millwood, A. Ramu, J. Southcombe, M.S. Andersen, L. Yang, C. Becker, S.D. Gordon, J. Bybjerg-Grauholm, Ø. Helgeland, D.M. Hougaard, X. Jin, S. Johansson, J. Juodakis, C. Kartsonaki, V. Kukuškina, P. Lind, A. Metspalu, G.W. Montgomery, A.P. Morris, P.B. Mortensen, P.R. Njølstad, D.R. Nyholt, M. Lippincott, S. Seminara, A. Salumets, H. Snieder, K. Zondervan, Z. Chen, D.F. Conrad, B. Jacobsson, L. Li, N.G. Martin, B. Neale, R. Nielsen, R.G. Walters, I. Granne, S.E. Medland, R. Mägi, D.A. Lawlor, C.M. Lindgren;
Tartu, Estonia

PL2.4 Discovery and characterisation of 49 novel genetic disorders from analysing de novo mutations in 31,058 parent child trio exomes

Joanna Kaplanis*, K. Samocha, Z. Zhang, R. Torene, K. Arvai, S. Lelieveld, E. de Boer, E. Kucuk, R. Pfundt, L. van de Wiel, P. Danecek, J. McRae, G. Gallone, R. Eberhardt, H. Brunner, C. Gilissen, K. Retterer, M. Hurles;
Cambridge, United Kingdom

PL2.5 Loss of MAENLI, a newly characterized lncRNA, results in limb specific inactivation of EN1 and a dorsal dimelia limb phenotype

Lila Allou*, S. Balzano, A. Magg, M. Quinodoz, B. Royer-Bertrand, R. Schöpflin, W.L. Chan, C.E. Speck-Martins, D. Rocha de Carvalho, L. Farage, C. Marques Lourenço, S. Rajagopal, S. Nampoothiri, B. Campos-Xavier, C. Chiesa, F. Niel-Bütschi, M. Spielmann, V. Desiniotis, S. Unger, C. Rivolta, L. Wittler, B. Timmermann, S. Mundlos, A. Superti-Furga;
Berlin, Germany

PL2.6 Whole-genome sequencing of rare disease patients in a national healthcare system

Lucy Raymond, on behalf of The NIHR BioResource and the 100,000Genomes Project – Rare Diseases Pilot;
Cambridge, United Kingdom

18:00 – 18:30 hrs | Coffee Break, Exhibition, Poster Viewing

18:30 – 20:00 hrs | Concurrent Sessions C01-C06 from submitted abstracts

Chairs:   Morten Dunø, Philippos Patsalis
Room:   Hall C

C01.1 A national approach to rapid genomic diagnosis in acute paediatrics

S. Lunke, C. Patel, M. Wilson, J. Pinner, S.A. Sandaradura, D. Mowat, E. Kirk, M.F. Hunter, E.I. Krzesinski, C. Barnett, L.S. Akesson, C.M. Richmond, S. Kumble, N.B. Tan, A. Fennell, J. Rogers, M. Higgins, A. Vasudevan, K.B. Howell, S.M. White, M.G. de Silva, G.R. Brett, L. Gallacher, S. Ayres, K. Boggs, A. Bray, A. Baxendale, S. Borrie, S. King-Smith, M.C. Quinn, L. Fowles, L. Hunt, S. Eggers, J. Riseley, B. Chong, D. Phelan, S. Sadedin, M. Martyn, I. Goranitis, S. Best, M.F. Buckley, T. Roscioli, J. Christodoulou, Australian Genomics Health Alliance Acute Care Flagship, Zornitza Stark;
Melbourne, Australia

C01.2 Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants of recessive disorders

Mamiko Yamada*, Y. Shiraishi, H. Suzuki, K. Kosaki;
Shinjuku, Japan

C01.3 Chromosome conformation capture (HiC) combined with whole genome sequencing for the detection and functional interpretation of complex genomic rearrangements in developmental disease

Uira S. Melo*, R. Schöpflin, R.A. Hidalgo, M.A. Mensah, B. Fischer‐Zirnsak, V. Suckow, S. Türkmen, F. Quintero, S.B. Sousa, P. Louro, M. Spielmann, V. Kalscheuer, I. Datkhaeva, S. Mundlos;
Berlin, Germany

C01.4 Expanding Next Generation Phenotyping on clinical notes and hand radiographs

Yair Hanani, A. Superti-Furga, H. Warren, Y. Gurovich, N. Fleischer, S.A. Skinner, K.W. Gripp, P.M. Krawitz;
Boston, United States

C01.5 Using UK Biobank to assess the pathogenicity, penetrance and expressivity of monogenic disease variants

Caroline F. Wright, M.A. Tuke, B. West, S. Jones, K. Patel, T.W. Laver, R.N. Beaumont, J. Tyrrell, A.R. Wood, A. Murray, A.T. Hattersley, T.M. Frayling, M.N. Weedon;
Exeter, United Kingdom

C01.6 Man vs Machine: Implementing clinically validated automated variant prioritisation with diagnostic performance that equals human experts

Leslie Burnett, A.L. Statham, B.A. Lundie, E. Lee, A. Poulet;
Darlinghurst Sydney, Australia

Chairs:  Olaf Riess, Olaug Rødningen
Room:   K2+K3

C02.1 CRISPR-engineered serial genomic inversions lead to tissue-specific architectural stripes, ectopic gene expression and congenital limb malformations

K. Kraft, Andreas Magg, V. Heinrich, C. Riemenschneider, R. Schöpflin, J. Markowski, D. Ibrahim, R. Acuna-Hidalgo, A. Despang, G. Andrey, L. Wittler, B. Timmermann, M. Vingron, S. Mundlos;
Berlin, Germany

C02.2 Functional dissection of TADs reveals non-essential and instructive roles in regulating gene expression

A. Despang, R. Schöpflin, M. Franke, S. Ali, I. Jerkovic, C. Paliou, W. Chan, B. Timmermann, L. Wittler, M. Vingron, S. Mundlos, Daniel M. Ibrahim;
Berlin, Germany

C02.3 Saturation mutagenesis of disease-associated regulatory elements

Max Schubach*, C. Xiong, B. Martin, F. Inoue, R.J.A. Bell, J. Costello, J. Shendure, N. Ahituv, M. Kircher;
Berlin, Germany

C02.4 Characterization of GJB2 cis-regulatory elements in the DFNB1 locus

Anaïs Le Nabec, A. Quillévéré, C. Le Maréchal, C. Férec, S. Moisan;
Brest, France

C02.5 Novel insights into molecular mechanisms in X-linked dystonia-parkinsonism (XDP)

Jelena Pozojevic*, A. Westenberger, C.J. Reyes, K. Grütz, H. Kirchner, C. Klein, F.J. Kaiser;
Lübeck, Germany

C02.6 Understanding the roles and the regulation of the Mowat-Wilson Syndrome transcription factor ZEB2 during development and disease

J. Birkhoff, A. Korporaal, S.G. Caraffi, I. Ivanovski, S. Garcia-Minaur, P. Kolovos, R. Brouwer, W. van Ijcken, L. Garavelli, D. Huylebroeck, Andrea Conidi;
Rotterdam, Netherlands

Chairs:  Hilde van Esch, Laura Vandervore
Room:   F1+F2+F3

C03.1 Intronic expansions of an ATTTC pentamer in the STARD7 gene underlie Familial Adult Myoclonic Epilepsy linked to chromosome 2 (FAME2).

Jozef Gecz, Z. Afawi, M. Bahlo, M.F. Bennett, S.F. Berkovic, F. Bisulli, F. Brancati, L. Canafoglia, G. Casari, R. van Coller, M.A. Corbett, D. Crompton, C. Depienne, R. Guerrini, E. Hirsch, M. Klein, L. Licchetta, A. van den Maagdenberg, D. Mei, T. Pippucci, L. Sadleir, I.E. Scheffer, S.M. Sisodiya, P. Striano, A. Suppa, M.A. Tijssen, L. Veneziano, F. Zara, The FAME Consortium;
Adelaide, Australia

C03.2 SINEUPs technology: a new route to possibly treat haploinsufficiency-induced Epilepsy and Autism Spectrum Disorders (ASDs)

Michele Arnoldi*, F. Di Leva, G.L. Carvill, S. Zucchelli, S. Gustincich, M. Biagioli;
Trento, Italy

C03.3

Brain somatic mutations associated with aging contribute to the initiation of Tau pathology in Alzheimer’s disease

Jun Sung Park*, J. Lee, E. Jung, M. Kim, I. Kim, H. Son, S. Kim, S. Kim, Y. Park, I. Mook-Jung, S. Yu, J. Lee;
Daejeon, Korea, Republic of

C03.4 Loss of neutral sphingomyelinase-3 (SMPD4) links neurodevelopmental disorders to cell cycle and nuclear envelope anomalies

D J. Smits*, P. Magini, L. Vandervore, R. Schot, M. Columbaro, E. Kasteleijn, M. van der Ent, F. Palombo, L. Iommarini, M.H. Lequin, A.M. Porcelli, P. Govaert, M. Dremmen, M.C.Y. de Wit, M. Severino, M.T. Divizia, N. Ordonez-Herrera, A. Alhashem, A. Al Fares, M. Al Ghamdi, M. Al Ghamdi, A. Rolfs, P. Bauer, J. Demmers, F. Verheijen, M. Wilke, M. van Slegtenhorst, P. van der Spek, A. Jansen, R. Stottmann, R. Hufnagel, R. Hopkin, D. Aljeaid, W. Wiszniewski, P. Gawlinski, W.B. Dobyns, M. Seri, T. Pippucci, M. Fornerod, G.M.S. Mancini;
Rotterdam, Netherlands

C03.5 Exploring the impact of CHD2 mutations on DNA double strand break (DSB) repair via non-homologous end joining (NHEJ) using Cas9 and Nanopore sequencing in human induced pluripotent stem cells (hIPSC)

Ian Tully*, M. Alsaqati, A. Baldwin, W. Plumbly, A. Harwood;
Cardiff, United Kingdom

C03.6 De-novo mutations in TAOK1 cause neurodevelopmental disorders

Marija Dulovic Mahlow, J. Trinh, K. Kumar Kandaswamy, G. Julius Braathen, N. Di Donato, M. Werber, V. Krajka, Ø. L. Busk, G. Oprea, F. Hinrichs, Ø. L. Holla, M. E.R. Weiss, A. Kahlert, S. Kishore, K. Tveten, M. Vos, A. Rolfs, K. Lohmann;
Luebeck, Germany

Chairs:  Danja Plaseska-Karanfilska, Pernille Tørring
Room:   F4+F5

C04.1 Ectopic expression of CGG repeats leads to impaired response to gonadotropin hormones and reduced fertility with age in a mouse model of theFMR1premutation

K. Shelly, N. Candelaria, Z. Li, P. Jin, David L. Nelson;
Houston, United States

C04.2 Proteomics and single-cell RNA analysis of Akap4-knockout mice model confirm indispensable role of Akap4 in spermatogenesis

Na Li, X. Fang, L. Huang, J. Xu, C. Ma, Z. Chen, Z. Zhang, C. Liao, S. Zheng, P. Huang, W. Xu, L. Sun;
Guangzhou, China

C04.3 Discovery of selfish mutations expanding in the male germline with duplex sequencing

Renato Salazar, B. Arbeithuber, M. Ivankovic, G. Povysil, M. Heinzl, I. Hartl, S. Moura, J. Pröll, I. Tiemann-Boege;
Linz, Austria

C04.4 Exome sequencing reveals de novo mutations and deletions in severe idiopathic male infertility

Manon S. Oud*, R.M. Smits, F.K. Mastrorosa, H. Smith, M.J. Xavier, G.S. Holt, H. Sheth, B.J. Houston, M.K. O’Bryan, P.F. de Vries, B. Alobaidi, H. Ismail, A. Garcia-Rodriguez, A. Mikulasova, C. Gilissen, L.E.L.M. Vissers, F. Tüttelmann, K. McEleny, J. Coxhead, S. Cockell, D.D.M. Braat, K. Fleischer, G.W. van der Heijden, L. Ramos, J.A. Veltman;
Nijmegen, Netherlands

C04.5 CETN1 is associated with spermatogenesis and male fertility: Genetic and functional perspectives

Digumarthi V.S. Sudhakar*, S. Jaishankar, R. Phanindranath, A. Pawar, V. Jayaraman, D. Verma, J. Reshma Devi, B. Senthilkumaran, R. Dada, K. Singh, R. Singh, N.J. Gupta, B.N. Chakravarth, M. Deendayal, K.V. Chary, A. Anand, Y. Sharma, D. Gedala Rao, K.C. Mantravadi, J. Gopalakrishnan, K. Thangaraj;
Hyderabad, India

C04.6 Duplication and deletion of key SOX9 enhancers cause sex reversal in humans

B.M. Croft, T. Ohnesorg, Andrew H. Sinclair;
Melbourne, Australia

Chairs:   Cecilie Rustad, Sergio Sousa
Room:   G2+G3

C05.1 Human and mouse gene essentiality screens allow to identify candidate genes for developmental disorders

Violeta Munoz Fuentes, P. Cacheiro, T.H. Meehan, D. Smedley;
Cambridge, United Kingdom

C05.2 C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome associated with a Braf mutation

Shin-ichi Inoue, N. Morozumi, K. Yoshikiyo, H. Maeda, Y. Aoki;
Sendai, Japan

C05.3 Towards the treatment of Cantú syndrome

Helen I. Roessler*, C. McClenaghan, Y. Huang, C.M. Halabi, T. Harter, S. Savelberg, F. Tessadori, J. Bakkers, A. Kovacs, M.S. Remedi, E.P. Kirk, I. Scurr, S.F. Smithson, M.M. van Haelst, D.K. Grange, C.G. Nichols, G. van Haaften;
Utrecht, Netherlands

C05.4 A restricted spectrum of KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Sara Cuvertino*, V. Hartill, A. Colyer, F. Nadat, N. Nair, A. Stevens, T. Garner, V. Faundes, S. Kimber, F. Flinter, S.A. Lynch, N. Canham, The Deciphering Developmental Disorders Study, the 100,000 Genomes Project, B. Jackson, G.M. Squeo, S. Venuto, G. Merla, E. Sheridan, C.A. Johnson, S. Banka;
Manchester, United Kingdom

C05.5 De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features

Chris T. Gordon, C. Mak, D. Doherty, A. Lin, N. Vegas, M. Cho, G. Viot, C. Dimartino, J. Weisfeld-Adams, D. Lessel, S. Joss, C. Li, C. Gonzaga-Jauregui, Y. Zarate, D. Horn, C. Troyer, S. Kant, G. Leung, A. Barone, S. Yang, E. Bend, C. Roadhouse, F. Zahir, E. Stolerman, T. Bienvenu, N. Orenstein, W. Dobyns, J. Shieh, D. Waggoner, K. Gripp, M. Parker, J. Stoler, S. Lyonnet, V. Cormier-Daire, D. Viskochil, T. Hoffman, J. Amiel, B. Chung;
Paris, France

C05.6 De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Daphné Lehalle, P. Vabres, T. Bierhals, M.T. Cho, B. Cogne, M. Avila, V. Carmignac, L. Duplomb-Jego, E. De Bont, Y. Duffourd, F. Duijkers, O. Elpeleg, A. Fattal-Valevski, D. Genevieve, A. Guimier, D. Harris, M. Hempel, B. Isidor, T. Jouan, P. Kuentz, K. Lichtenbelt, V. Loik Ramey, L. Pasquier, J. St-Onge, A. Sorlin, J. Thevenon, E. Torti, K. Van Gassen, M. Van Haelst, S. van Koningsbruggen, J. Riviere, C. Thauvin, J. Betschinger, L. Faivre;
Dijon, France

Chairs:  Rune Østern, Birute Tumiene
Room:   K1

C06.1 DTYMK deficiency is the cause of a novel vanishing brain disease

Jo M. Vanoevelen, J. Bierau, E. Kamsteeg, R.A. Wevers, V.A. Bok, M. van der Knaap, M. Bugiani, M. O’ Driscoll, A. van den Wijngaard, H.G. Brunner, L. Wang, C.T.R.M. Stumpel;
Maastricht, Netherlands

C06.2 DEGS1 Mutation causes sphingolipidosis

Vadim A. Dolgin*, R. Straussberg, R. Xu, I. Mileva, Y. Yogev, C. Mao, O.S. Birk;
Beer Sheva, Israel

C06.3 MAGT1-CDG vs. XMEN: two faces of a novel glycosylation disorder

Eline Blommaert*, R. Péanne, N.A. Cherepanova, D. Rymen, J. Jaeken, R. Schrijvers, F. Foulquier, R. Gilmore, G. Matthijs;
Leuven, Belgium

C06.4 Implication of LRP6 variants in familial hypercholesterolemia

Youmna Ghaleb*, S. ElBitar, A. Loste, P. El khoury, Y. Abou-khalil, G. Nicolas, M. Le Borgne, P. Moulin, M. Di-filippo, S. Charriere, H. Iliozer, J. Rabès, C. Boileau, M. Abifadel, M. Varret;
Paris, France

C06.5 Deciphering altered inhibitor G-protein signaling in the cardiac dysfunction underlying Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA) syndrome

Pasquelena De Nittis*, A. Sarre, J. Chrast, W.F. Simonds, T. Pedrazzini, A. Reymond;
Lausanne, Switzerland

C06.6 PCYT2 Variants Disrupt Etherlipid Biosynthesis and Cause a Complex Hereditary Spastic Paraplegia

John H. McDermott, F. Vaz, M. Alders, S.B. Wortmann, S. Kölker, M.L. Pras-Raves, M.A.T. Vervaart, H. Van Lenthe, A.C.M. Luyf, H.L. Elfrink, K. Metcalfe, S. Cuvertino, P.E. Clayton, R. Yarwood, M.P. Lowe, S. Lovell, R.C. Rogers, A.H.C. Van Kampen, Deciphering Developmental Disorders Study, J.P.N. Ruiter, S. Ferdinandusse, M. Van Weeghel, M. Engelen, S. Banka;
Manchester, United Kingdom

Chairs:  Angus John Clarke, Danya Vears
Room:  H2

C07.1 Experts’ opinions on genome editing in humans: a collective construction of a disruptive technology

V. Romano, Heidi C. Howard;
Uppsala, Sweden

C07.2 How will new reproductive genetic technologies change genetically at-risk couples’ reproductive decision making? Views on NIPD and gene modification

Ivy van Dijke*, P. Lakeman, I.B. Mathijssen, M.C. Cornel, L. Henneman;
Amsterdam, Netherlands

C07.3 Perspectives of a Genetic Disease Community and Genetic Professionals on Germline Gene Editing

B.M. Hollister, M. Gatter, K.E. Abdallah, A. Armsby, A.J. Buscetta, Y. Byeon, K.E. Cooper, S. Desine, M.J. Hahn, K.E. Ormond, Vence L. Bonham;
Bethesda, United States

C07.4 National implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands: evaluation of women’s perspectives

Karuna R.M. van der Meij*, M.N. Bekker, J.T. Gitsels- van der Wal, L. Martin, E.H. van Vliet-Lachotzki, D.R.M. Timmermans, R.H. Galjaard, E.A. Sistermans, L. Henneman, Dutch NIPT Consortium;
Amsterdam, Netherlands

C07.5 Implementing non-invasive prenatal testing (NIPT): An interview study of pregnant women’s opinions about and experiences with societal pressure, reimbursement and an expanding scope

Iris M. Bakkeren*, A. Kater-Kuipers, E.M. Bunnik, A.T.J.I. Go, I.D. de Beaufort, R.H. Galjaard, S.R. Riedijk;
Rotterdam, Netherlands

C07.6 The notion of “serious” for genetic disease: To qualify or not, that is the question

Erika Kleiderman, V. Ravitsky, B. Knoppers;
Montreal, Canada

20:00 – 21:30 hrs | ESHG Networking Mixer

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Sunday