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09:00 – 10:30 hrs | Concurrent Symposia S17-S20 & Educational Sessions E13-E14

Chairs:  Kiran Musunuru, Joris Veltman
Room:   Hall C

S17.1 Challenges and solutions to advance global collaboration to understand, diagnose, and develop therapies for rare diseases

Kym Boycott;

S17.2 EMBL-EBI and global data integration

Nick Goldman;
United Kingdom

S17.3 The NIH All of us program: Building a national research program of 1 million U.S. participants to advance precision medicine

Joshua Charles Denny;
United States

S17.4 Pulling the Strands Together: MEGA Steps to Drive European Genomics and Personalised Medicine

Denis Horgan;
Brussels, Belgium

Chairs:  Tord Jonson, Matti Pirinen
Room:   K2+K3

S18.1 Tales of Early Humans, Admixture, and Adaptation

Mattias Jakobsson;

S18.2 Timing past admixture events and characterizing their consequences in contemporary human populations

Garrett Hellenthal;
United Kingdom

S18.3 Consequences of population genetic differences in genetic risk prediction across diverse human populations

Alicia Martin;
United States

Chairs:  Brunella Franco, Asbjørg Stray-Pedersen
Room:   F1+F2+F3

S19.1 Regeneration of the entire human epidermis using transgenic stem cells

Laura De Rosa;

S19.2 Gene therapy for inherited neuromuscular disorders

Francesco Muntoni;
United Kingdom

S19.3 Gene therapy for hemoglobinopathies

Giuliana Ferrari;

Chairs:  Siren Berland, Lucy Raymond
Room:   G2+G3

S20.1 Single Cell Epigenomic Analysis of the Anatomy and Neuronal Circuitry of the Brain

Joseph R. Ecker;
United States

S20.2 Genetic-epigenetic interactions: mechanistic insights and practical applications

Benjamin Tycko;
United States

S20.3 Functional genomics approaches for uncovering the role of regulatory sequences in developmental abnormalities and disease

Justin L. Cotney;
United States

Chair:   Maris Laan
Room:  F4+F5

E13.1 Novel discoveries of genes implicated in male and female infertility

Christophe Arnoult ;

E13.2 Population genetic carrier screening programs for reproductive purposes

Joël Zlotogora;

Chair:   Jose Luis Costa
Room:  K1

E14.1 Animal models of Machado-Joseph disease

Luis Pereira de Almeida;

E14.2 CRISPR/Cas9 and TALENs fuel genetically engineered clinically relevant Xenopus tropicalis models.

Kris Vleminckx;

10:30 – 11:00 hrs | Coffee Break

11:00 – 12:30 hrs | Concurrent Sessions C24-C29 from submitted abstracts

Chairs:   Jill Clayton-Smith, Feliciano Ramos
Room:   Hall C

C24.1 Analysis of Mosaicism for Sequence and Copy Number Variants in a Broad Diversity of Hereditary Disorders in a Large Clinical Cohort

SWAROOP ARADHYA, R. Truty, C. Kautzer, M. Kennemer, S. Lincoln, J. Rhees, A. Stafford, R. Nussbaum;
San Francisco, United States

C24.2 Uniparental disomy in the Rare Disease Programme of the UK’s 100,000 Genomes Project

Katherine R. Smith, M. Bleda, D. Kasperaviciute, K. Ibanez, A. Rueda Martin, E. Thomas, E. Baple, A. Tucci, M.J. Caulfield, A. Rendon;
London, United Kingdom

C24.3 Somatic mutation cell lineage analysis reveals progressive clonal determination in human embryo

Sara Bizzotto*, J. Ganz, Y. Dou, R.N. Doan, E. Maury, M. Kwon, T. Bae, A. Abyzov, P.J. Park, C.A. Walsh;
Boston, United States

C24.4 Basal and mutagen-driven somatic mutagenesis shape the genome of healthy human cells

Irene Franco*, H. Helgadottir, A. Moggio, M. Larsson, P. Vrtacnik, A. Johansson, N. Norgren, P. Lundin, D. Mas-Ponte, J. Nordström, T. Lundgren, P. Stenvinkel, L. Wennberg, F. Supek, M. Eriksson;

C24.5 Genetic basis of mosaic pigmentary disorders of the skin and how to detect them: the M.U.S.T.A.R.D. cohort’s experience

Arthur SORLIN*, V. Carmignac, P. Kuentz, É. Tisserant, Y. Duffourd, M.U.S.T.A.R.D. cohort’s investigators, J. Rivière, P. Callier, C. Philippe, C. Thauvin, L. Faivre, P. Vabres;
Dijon, France

C24.6 The Hutchinson-Gilford progeria syndrome mutation is a somatic mutation in chronic kidney disease

Maria Eriksson, H.T. Helgadottir, N. Viceconte, A. Witasp, E. Wallén Arzt, A. Sola Carvajal, G. Revechon, A. Thorell, D. McGuinness, P.G. Shiels, A. Wernerson, P. Stenvinkel;
Huddinge, Sweden

Chairs:   Christian Gillisen, Daniel Nilsson
Room:   K2+K3

C25.1 A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome

Tom G. Richardson*, G. Hemani, T.R. Gaunt, C.L. Relton, G. Davey Smith;
Bristol, United Kingdom

C25.2 Multivariate GWAS of inflammatory markers reveals novel disease associations

Sanni E. Ruotsalainen*, J. Partanen, I. Surakka, M. Pirinen, V. Salomaa, M. Salmi, S. Jalkanen, M.J. Daly, S. Ripatti, J. Koskela;
Helsinki, Finland

C25.3 Analysis of genetic variants through aggregation of homologous human protein domains via MetaDome strongly improves diagnostic prediction of missense variants

Laurens Wiel*, C. Baakman, D. Gilissen, H. Venselaar, J.A. Veltman, G. Vriend, C. Gilissen;
Nijmegen, Netherlands

C25.4 reg2gene: predicting enhancer-gene associations using ensemble learning approaches

Inga Patarcic*, V. Franke, A. Akalin;
Berlin, Germany

C25.5 A GWAS on data-driven 3D facial phenotypes selected by matching siblings reveals 310 genetic loci

Hanne Hoskens*, K. Indencleef, J. Li, J.D. White, A. Ortega-Castrillon, J. Wysocka, S. Walsh, S. Richmond, J.R. Shaffer, S.M. Weinberg, M.D. Shriver, H. Peeters, P. Claes;
Leuven, Belgium

C25.6 GestaltMatcher: Identifying the second patient of its kind in the phenotype space

Tzung-Chien Hsieh*, A. Bar-Haim, D. Dukić, T.J. Pantel, M. Mensah, Y. Gurovich, N. Fleischer, Y. Hanani, G. Nadav, T. Kamphans, P. Krawitz;
Bonn, Germany

Chairs:  Olaf Bodamer, Elsebet Østergaard
Room:   F1+F2+F3

C26.1 Mutations in LIG3 are a novel cause of mitochondrial neurogastrointestinal encephalomyopathy

ELENA BONORA, F. Bianco, C. Bergamini, G. Kellaris, F. Ullah, F. Isidori, I. Liparulo, C. Diquigiovanni, L. Masin, M.G. Cratere, E. Boschetti, V. Papa, A. Maresca, G. Cenacchi, R. Casadio, P. Martelli, I. Matera, I. Ceccherini, R. Fato, G. Raiola, S. Arrigo, S. Signa, M.S. Severino, P. Striano, C. Fiorillo, P. Picco, V. Carelli, N. Katsanis, M. Seri, R. De Giorgio;

C26.2 Mutations in POLRMT impair mitochondrial transcription and are associated with a spectrum ofmitochondrial disease presentations

M. Oláhová, B. Peter, H. Diaz, Z. Szilagyi, E.W. Sommerville, E.L. Blakely, J. Collier, V. Stránecký, H. Hartmannová, A.J. Bleyer, K.L. McBride, S.A. Bowden, Z. Korandová, A. Pecinová, H. Ropers, K. Kimia, H. Najmabadi, M. Tarnopolsky, L.I. Brady, N. Weaver, C.E. Prada, T. Mráček, S. Kmoch, G.S. Gorman, M. Falkenberg, C. Gustafsson, Robert W. Taylor;
Newcastle upon Tyne, United Kingdom

C26.3 Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

Juliette Pulman*, B. Ruzzenente, L. Bianchi, M. Rio, N. Boddaert, A. Munnich, A. Rötig, M. Metodiev;
Paris, France

C26.4 Brain-on-a-chip – a neurophysiological model of MELAS disease and comorbid psychopathology

Tamas Kozicz, T. Klein-Gunnewiek, D. Cassiman, T. Nelson, R. Rodenburg, E. Perales-Clemente, E. Morava, N. Nadif Kasri;
Rochester, United States

C26.5 The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Leonie von Elsner*, K.M. Girisha, K. Neethukrishna, M. Muranjan, A. Shukla, G.S. Bhavani, G. Nishimura, K. Kutsche, G. Mortier;
Hamburg, Germany

C26.6 SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion

Tommaso Pippucci, V. Del Dotto, F. Ullah, I. Di Meo, P. Magini, M. Gusic, A. Maresca, L. Caporali, F. Palombo, F. Tagliavini, E.H. Baugh, C. La Morgia, P. Barboni, M. Carbonelli, M.L. Valentino, R. Liguori, V. Shashi, J. Sullivan, S. Nagaraj, E. Bertini, R. Carrozzo, F. Emma, I. Cutcutache, M. Armstrong, M. Page, N. Stong, E. Davies, D. Karall, S. Boesch, M. Seri, M. Falkenberg, H. Prokisch, N. Katsanis, V. Tiranti, V. Carelli;
Bologna, Italy

Chairs:  Marta Bertoli, Trine Prescott
Room:   F4+F5

C27.1 Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved patients with suspected hereditary conditions

bekim sadikovic;
London, Canada

C27.2 Multiomics Approach to Diagnosing Undiagnosed Patients

Matthew T. Wheeler, J.N. Kohler, D.E. Bonner, D.B. Zastrow, C. Reuter, M. Majcherska, L. Fernandez, C. McCormack, S. Marwaha, C. Curnin, A. Dries, M. Ruzhnikov, J. Hom, J. Sampson, P.G. Fisher, Undiagnosed Diseases Network, E.A. Ashley, J.A. Bernstein;
Palo Alto, United States

C27.3 Mutated epigenetic modifiers in CYLD cutaneous syndrome

H.R. Davies, K. Hodgson, E. Schwalbe, J. Coxhead, N. Sinclair, X. Zou, S. Cockell, A. Husain, S. Nik-Zainal, Neil Rajan;
Newcastle upon Tyne, United Kingdom

C27.4 Identification and characterization of NEPRO-related skeletal dysplasia resembling cartilage hair hypoplasia

Dhanya Lakshmi Narayanan*, N. Kausthubham, G.S. Bhavani, H. Shah, A. Shukla, G. Mortier, K.M. Girisha;
Manipal, India

C27.5 Impact of ALPK1 causative variant in ROSAH syndrome, a newly characterised retinal and multisystem autosomal dominant disorder

Robyn V. Jamieson, A. Sabri, J.R. Grigg, A. Cheng, T.H. Loi;
Sydney, Australia

C27.6 New mechanism for retinal degeneration on chrXq27.1

Jessica C. Gardner, K. Jovanovich, D. Ottaviani, J. Jackson, A.T. Moore, K. Ziaka, K. Hau, A. Lane, M. Michaelides, M.E. Cheetham, A.J. Hardcastle;
London, United Kingdom

Chairs:  Inga Prokopenko, Anna Lindstrand
Room:   G2+G3

More information will follow in May.

Chairs:  Luzia Garrido, Ulf Kristoffersson
Room:   K1

C29.1 The public favours healthcare-mediated disclosure of hereditary cancer risk to at-risk relatives: a population-based survey in Sweden

A. Andersson, C. Hawranek, A. Öfverholm, H. Ehrencrona, K. Grill, S. Hajdarevic, B. Melin, E. Tham, B. Numan Hellquist, Anna Rosén;
Umeå, Sweden

C29.2 Communication across generations: disclosure of BRCA cancer risk with young adults

Alison L. Young*, P.N. Butow, P. Rhodes, K.M. Tucker, R. Williams, E. Healey, C.E. Wakefield;
Sydney, Australia

C29.3 High-Risk Women’s Responses and Understanding of Polygenic Breast Cancer Risk Information

Tatiane Yanes*, R. Kaur, B. Meiser, M. Scheepers-Joynt, S. McInerny, K. Barlow-Stewart, Y. Antill, L. Salmon, C. Smyth, J. Halliday, P. James, M. Young;
Sydney, Australia

C29.4 Families’ and healthcare professionals’ uncertainties in the era of cancer precision medicine: results from PRISM

Janine Vetsch*, C.E. Wakefield, M. Warby, K. Tucker, E. Duve, G. Marshall, T. Trahair, T. O’Brien, L. Lau, D. Ziegler;
Randwick, Australia

C29.5 Advanced cancer patient perspectives on consenting to molecular tumour profiling

Megan Best*, P. Butow, N. Bartley, C. Jacobs, I. Juraskova, A. Newson, D. Goldstein, J. Savard, B. Meiser, M. Ballinger, B. Biesecker, D. Thomas;
Sydney, Australia

C29.6 Dimensions of grief and loss for families living with Li Fraumeni Syndrome

Allison Werner-Lin, S.L. Merrill, J.L. Young, C.D. Wilsnack, V. Groner, J.T. Loud, R.C. Bremer, J.A. Peters, M.H. Greene, S.A. Savage, P.P. Khincha;
Philadelphia, United States

12:30 – 13:30 hrs | Lunch Break

13:30 – 14:15 hrs | Plenary Session PL3

Chairs:  Alexandre Reymond, Joris Veltman
Room:   Hall C

PL3.1 Mendel Lecture: A 25 Year Genomic Odyssey

Craig Venter;
La Jolla, United States

14:15 – 15:00 hrs | Plenary Session PL4

Chairs:  Alexandre Reymond, Joris Veltman
Room:   Hall C

PL4.1 ESHG Award Lecture: We and our second genome: two key players in common complex diseases

Cisca Wijmenga;
Groningen, The Netherlands

15:00 – 16:00 hrs | Plenary Session PL5

Chairs:  Alexandre Reymond, Joris Veltman
Room:   Hall C

EJHG-SN Citation Awards

ESHG Awards for Best Presentations by Young Investigators

European DNA Day Contest

Closing Address

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