Saturday, June 16 2018-06-15T20:57:01+00:00
Sunday

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

Chair: Joris Veltman
Room: Gold Room

08:00 – 10:00 hrs | Sponsored Educational Sessions

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10:00-11:30 hrs | Corporate Satellites

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10:30 – 12:00 hrs | Educational Sessions E02-E05 & Workshops W01-W04

Chair: Gunnar Houge
Room: Auditorium

E02.1 From Li-Fraumeni syndrome to TP53-related inherited cancers: update on molecular basis and clinical management

Thierry Frebourg;
Rouen, France

E02.2 Prostate Cancer Predisposition: Implications for Early Detection and Treatment

Peter Nelson;
Seattle, United States

Chair: Brunella Franco
Room: Red 1+2

E03.1 Analysis of mammalian gene function through mouse phenotyping

Damian Smedley;
London, United Kingdom

E03.2 An atlas of human long non-coding RNAs

Piero Carninci;
Yokohama, Japan

Chair: Vita Dolzan
Room: Brown 3

E04.1 Preemptive pharmacogenomic testing for preventing adverse drug reactions

Henk-Jan Guchelaar;
Leiden, The Netherlands

E04.2 From pharmacogenomics testing to point-of-care clinical decision support

Mark Ratain;
Chicago, United States

Chair: Yasemin Alanay
Room: Blue 1+2

E05.1 Decreased Bone Density: From Gene to Pathways

Outi Mäkitie;
Helsinki, Finland

E05.2 New Perspectives in the Treatment of Osteopetrosis

Anna Teti;
L’Aquila, Italy

Organiser: Gijs Santen, NL, Helger Yntema, NL
Room: Gold Room

Although NGS has been around for a number of years, it is still very new compared to Sanger sequencing and we still occasionally find systematic errors in our pipelines and analysis programmes. Because there currently is no platform for laboratories to share such issues which each other, every laboratory has to identify its own errors.

In this workshop several presentations will illustrate the problems by showing some of the errors that were encountered in the past years, discuss how errors can be prevented, and most importantly, how they can be detected. At the end there will be time for discussion where people may share their own experiences, and we hope to come towards a proposal on how to learn from each other. After all, flying here we were very happy that the aviation industry makes a point of learning from each other’s mistakes, and perhaps we should offer our patients the same courtesy…

Workshop programme:

10.30-10.40        Introduction of the workshop (Gijs Santen)

10.40-11.00        Easy to make bioinformatics mistakes (Christian Gilissen)

11.00-11.20        Evaluation and validation of NGS pipelines  (Erika Souche)

11.20-11.40        The value of External Quality Assessment (EQA) (Weronika Gutowska-Ding)

11.40-12.00        Discussion with panel (Helger Yntema & Gijs Santen)

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

Organiser: Roy Sheppard, UK

Room: Yellow 1+2

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.

Organisers: Sergi Beltran, ES, Conxi Lazaro, ES

Room: Amber 7+8

Abstract

The RD-Connect platform is composed of different interconnected modules that securely integrate -omics data with clinical information, providing not only a centralised data repository but also a sophisticated and user-friendly online analysis system for rare disease NGS data. RD-Connect is completely free and open for contributions (https://platform.rd-connect.eu).

In this workshop, we will give a brief overview of the RD-connect platform (20min), followed by a hands-on session in which participants will be invited to identify the causative variants in some real rare disease patients. Participants will learn to:

  • Usage of Human Phenotype Ontology (HPO), OMIM and Orpha codes for entering clinical data through PhenoTips and their utility for machine-readable querying
  • Filter and prioritise genomic variants (including mode of inheritance, quality, affected gene, consequence, pathogenicity prediction, and control population frequency)
  • Prioritize and further interpret genomic variants using additional integrated tools (including Exomiser, DiseaseCard, ALFA, ePGA, and UMD Predictor).

All participants will be provided with a temporary user and instructions on how to use the platform on their personal laptop or tablet (ideally running Firefox or Chrome). Several trainers will be available in the room to help solve any issues that participants may encounter and questions of broad interest will be discussed with the audience

Programme

10:30 – Overview of the RD-Connect platform (Sergi Beltran)

10:50 – Hands on workshop on the identification of rare disease causing variants through the RD-connect Genome-Phenome analysis platform (Steven Laurie, Leslie Matalonga, Sergi Beltran).

11:45 – Open discussions

Hands-on Format (55 min)

1) Live demonstration on how to identify causative variants (15 min)

2) Participants will be invited to use their laptop/tablet to solve some example cases. Real-time questions, feedback and discussion will be promoted using the ESHG App (40min)

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

Chair: Christine Patch, Joris Veltman

Room: Gold Room

PL0.1 Presidential Address

Christine Patch;
President of the European Society of Human Genetics
London, United Kingdom

PL0.2 Welcoming Address

Maurizio Genuardi;
President of the Italian Society of Human Genetics
Rome, Italy

PL0.3 Welcoming Address

Sam Riedijk, Elisabetta Razzaboni;
EMPAG SPC Co-Chairs

Chair: Christine Patch, Joris Veltman

Room: Gold Room

Introduction

Samuli Ripatti, FI

Laudation

Manolis Dermitzakis, CH

PL1.1 Leena Peltonen Lecture on Complex Genetics

Speaker to be announced

PL1.2 Recent advances in mutational signatures of human cells

Serena Nik-Zainal;
Cambridge, United Kingdom

PL1.3 Cell by Cell: Organoid-based Modelling of Human Diseases at High Resolution

Testa Giuseppe;
Milan, Italy

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

16:30 – 18:00 hrs | Concurrent Sessions C01-C06

Chair: Helena Kääriäinen, Massimo Gennarelli
Room: Gold Room

C01.1 Polygenic risk score can replace clinical risk scores in predicting diabetic complications and their response to therapy

Pavel Hamet, M. Haloui, F. Harvey, R. Tahir, F. Marois-Blanchet, C. Long, R. Attaoua, P. Simon, J. Chalmers, M. Marre, S. Harrap, M. Woodward, J. Tremblay;
Montréal, Canada

C01.2 Returning cardiovascular disease risk prediction back to individuals motivate beneficial lifestyle changes: Preliminary results from the GeneRISK-study

Elisabeth Widen, I. Surakka, N. Mars, P. Pöllänen, K. Hotakainen, J. Partanen, J. Aro, S. Ripatti;
Helsinki, Finland

C01.3 Development of a point of carepharmacogenetic test to avoid antibiotic related hearing loss in neonates

John H. McDermott*, S. Ainsworth, M. Szynkiewicz, G. Miele, W. Newman;
Manchester, United Kingdom

C01.4 From genetics to therapy: successful one-year eculizumab treatment of protein-losing enteropathy caused by loss of the complement regulator CD55

Alina Kurolap*, O. Eshach-Adiv, T. Hershkovitz, T. Paperna, A. Mory, D. Oz-Levi, Y. Zohar, H. Mandel, J. Chezar, D. Azoulay, S. Peleg, E.E. Half, V. Yahalom, L. Finkel, O. Weissbrod, D. Geiger, A. Tabib, R. Shaoul, D. Magen, L. Bonstein, D. Mevorach, H.N. Baris;
Haifa, Israel

C01.5 A pharmacogenetic study implicates NINJ2 in the response to IFNbeta in Multiple Sclerosis patients

S. Peroni, M. Sorosina, S. Malhotra, F. Clarelli, L. Villar, V. Martinelli, C. Guaschino, L. Citterio, J. Lechner-Scott, X. Montalban, G. Comi, F. Esposito, M. Comabella, Filippo Martinelli Boneschi;
Milan, Italy

C01.6 Genome-wide association study of Pandemrix-induced narcolepsy in Sweden – a possible role for glial cell line-derived neurotrophic factor (GDNF)

Mia Wadelius, N. Eriksson, H. Smedje, Q.Y. Yue, P.K.E. Magnusson, P. Hallberg, on behalf of Swedegene;
Uppsala, Sweden

Chair: Jill Clayton-Smith, Lara Rodriguez Laguna
Room: Auditorium

C02.1 Lethal and non-lethal GLIS1 related malformation syndromes.

Paolo Prontera, C. Le Caignec, J. Philippe, D. Martin-Coignard, C.S. Gunn, P. Lindenbaum, C. Bokobza, R. Redon, E. Sallicandro, A. Mencarelli, D. Rogaia, C. Gradassi, M. Schippa, R. Romani, C. Ardisia, G. Merla, S. Troiani, G. Stangoni, E.E. Davis;
Perugia, Italy

C02.2 The Study of Adults and Adolescents with Silver-Russell syndrome: evaluating the adult phenotype of Silver-Russell syndrome

Oluwakemi Lokulo-Sodipe*, E.L. Wakeling, H.M. Inskip, C.D. Byrne, D.J.G. Mackay, J.H. Davies, I.K. Temple;
Southampton, United Kingdom

C02.3 Mutations in the homeobox gene GSX2 cause hypoplasia/agenesis of the basal ganglia and the olfactory bulbs and diencephalic-mesencephalic junction dysplasia

Roberta De Mori, M. Severino, M. Mancardi, D. Anello, S. Tardivo, T. Biagini, M. Breuss, E. Lorefice, A. Gamucci, B. Illi, A. Micalizzi, M. Ginevrino, A. Casella, R. Rosti, T. Mazza, J. Gleeson, A. Rossi, E. Valente;
Rome, Italy

C02.4 Loss of function mutations in TCF12 cause autosomal dominant Kallmann syndrome and reveal network-level interactions between causal loci

Erica E. Davis, R. Balasubramanian, Z.A. Kupchinsky, D. Keefe, L. Plummer, B. Meczekalski, K.E. Heath, V. Lopez-Gonzalez, M.J. Ballesta-Martinez, G. Margabanthu, S. Price, J. Greening, M.E. Wierman, W.F. Crowley, N. Katsanis;
Durham, United States

C02.5 Predictors of all-cause mortality in adults with 22q11.2 deletion syndrome

Anne S. Bassett, T. Heung, E. Ng, J. Graffi, S. Van Mil, S. Malecki, E. Chow, D. Andrade, E. Boot, E. Breetvelt, C. Silversides;
Toronto, Canada

C02.6 Pathogenesis and treatment of esophageal dilation and gastric epithelial hyperplasia in a mouse model for cardio-facio-cutaneous syndrome

Shin-ichi Inoue, S. Takahara, T. Yoshikawa, T. Niihori, K. Yanai, Y. Matsubara, Y. Aoki;
Sendai, Japan

Chair: Robert Hofstra, Tommaso Pippucci
Room: Red 1+2

C03.1 Host genetics and microbial impact on plasma metabolites is linked to the cardiovascular risk

Alexandra ZHERNAKOVA, A. Kurilshikov, I. van den Munckhof, E. Slagboom, K. Schraa, L. Joosten, R. Xavier, F. Kuipers, M. Netea, C. Wijmenga, J. Fu;
Groningen, Netherlands

C03.2 Single-cell multi-omics sequencing to understand the nature, extent and biology of cellular heterogeneity in breast cancer

Sebastiaan Vanuytven*, A. Sifrim, M. Teng, D. Brown, L. Mora Bitria, E. Fernandez Gallardo, K. Theunis, S. Majjaj, H. Duvilliers, F. Rothe, C. Sotiriou, P. Van Loo, C. Desmedt, T. Voet;
Leuven, Belgium

C03.3 Unraveling the cis and trans genetic regulatory map in over 1,500 induced pluripotent stem-cells lines

Marc J. Bonder*, C. Smail, D. Jakubosky, The i2QTL CONSORTIUM, C. Brown, S. Montgomery, E. Smith, K. Frazer, O. Stegle;
Hinxton, United Kingdom

C03.4 Integration of ~10,000 metabolite features with genotype data and immune phenotypes reveals genetic determinants and common regulatory modules

Xiaojing Chu*, M. Jaeger, O.B. Bakker, R. Aguirre-Gamboa, M. Oosting, S.P. Smeekens, S. Withoff, R.T. Netea-Maier, H.J.P.M. Koenen, I. Joosten, R.J. Xavier, L. Franke, L.A.B. Joosten, S. Sanna, V. Kumar, C. Wijmenga, M.G. Netea, Y. Li;
Groningen, Netherlands

C03.5 Plasma protein levels – a link between host microbiome, genetics, metabolites and disease-related phenotypes

Daria V. Zhernakova*, U. Võsa, T.H. Le, A. Kurilshikov, B. Atanasovska, M. Bonder, S. Sanna, A. Claringbould, P. Deelen, LifeLines cohort study, BIOS consortium, R.A. de Boer, F. Kuipers, M.G. Netea, M. Hofker, C. Wijmenga, L. Franke, A. Zhernakova, J. Fu;
Groningen, Netherlands

C03.6 A high-resolution, genome-scale promoter ‘interactome’ in human T follicular helper cells implicates novel effector genes at SLE GWAS loci

Struan F.A. Grant, M.E. Johnson, E. Manduchi, C. Le Coz, M.E. Leonard, S. Lu, K.M. Hodge, N. Romberg, A. Chesi, A.D. Wells;
Philadelphia, United States

Chair: Ellen Heitzer, Anja Will
Room: Brown 3

C04.1 A comprehensive study comparing on- and off-target levels of the most common forms of CRISPR/Cas9 guide RNAs

Ashley Jacobi, G. Rettig, M. Schubert, J. Shapiro, O. Iancu, A. Tovin, E. Cedrone, M. Dobrovolskaia, A. Hendel, M. Behlke;
Coralville, United States

C04.2 The MEF2C regulatory network is disrupted in patients with Rett-like characteristics

E. D’haene, R. Bar-Yackov, I. Bariah, L. Vantomme, S. Van Loo, F. Avila Cobos, R. Eshel, R. Alatawna, B. Menten, R. Birnbaum, Sarah Vergult;
Ghent, Belgium

C04.3 Personalized co-expression networks reveal genetic risk factors that change the regulatory wiring of cells.

M.G.P. van der Wijst, Dylan H. de Vries*, H. Brugge, P. Deelen, M.A. Swertz, Lifelines Cohort Study, BIOS Consortium, L. Franke;
Groningen, Netherlands

C04.4 Integrated analysis of transcriptional regulation in PLN R14del cardiomyopathy

Jiayi Pei*, M. Harakalova, E. Nagyova, J.M.I.H. Gho, S. Sepehrkhouy, J. van Dinter, A. van Mil, M.P. Buijsrogge, N. de Jonge, M.M. Huibers, E.E.S. Nieuwenhuis, H.M. den Ruijter, G. Pasterkamp, P.A. Doevendans, R. Hajjar, M. Mercola, J.P.G. Sluijter, R.A. de Weger, C. Cheng, A. Vink, M. Mokry, F.W. Asselbergs;
Utrecht, Netherlands

C04.5 Alteration of HDAC9 exons that also function as enhancers leads to TWIST1 haploinsufficiency that result in limb and craniofacial phenotypes

N. Hirsch, F. shemuluvich, T. Kaplan, D.G. Lupiáñez, Ramon Y.B. Birnbaum;
Beer Sheva, Israel

C04.6 Treating Retinitis Pigmentosa with transcriptional-based therapeutics

S. Botta, E. Marrocco, Enrico M. Surace;
Pozzuoli (NA), Italy

Chair: Hilde van Esch, Svenja Schneider
Room: Blue 1+2

C05.1 SMPD4 loss-of-function mutations cause cerebral malformations and arthrogryposis through endoplasmic reticulum stress and autophagy induced by dysregulation of sphingolipid metabolism

Pamela Magini, L. Vandervore, R. Schot, M. Columbaro, M. van der Ent, L. Iommarini, M. Lequin, A.M. Porcelli, P. Govaert, F. Palombo, M. Dremmen, M.C. de Wit, M. Severino, M. Hoogeveen-Westerveld, M.T. Divizia, P. van den Berg, F. Verheijen, P. van der Spek, A. Jansen, G. Mirzaa, W.B. Dobyns, M. Seri, T. Pippucci, M. Fornerod, G.M.S. Mancini;
Bologna, Italy

C05.2 Resolving the diagnostic odyssey for young patients with rare genetic muscle disease through the application of extended exome sequencing technologies

Katherine Johnson*, A. Töpf, M. Bertoli, L. Phillips, A. Blain, M. Ensini, M. Lek, L. Xu, D.G. MacArthur, V. Straub;
Newcastle upon Tyne, United Kingdom

C05.3 Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

Richard J.L.F. Lemmers, P.J. van der Vliet, J.P. Vreijling, J. Balog, D. Henderson, B. van Engelen, F. Baas, S. Sacconi, R. Tawil, S.M. van der Maarel;
Leiden, Netherlands

C05.4 Novel biallelic mutations in VPS13D cause spastic ataxia and lead to mitochondrial dysfunction

Marija Dulovic*, J. Trinh, A. Münchau, C. Klein, N. Brüggemann, K. Lohmann;
Luebeck, Germany

C05.5 Mutations in the thioredoxin related gene TMX2 cause primary microcephaly, polymicrogyria and severe neurodegeneration with impaired mitochondrial energy metabolism.

Rachel Schot, C. Milanese, L. Vandervore, A. Fry, N. Bahi-Buisson, B. Keren, C. Nava, A. Afenjar, F. Renaldo, S. Coury, W. Tan, M. Fornerod, P. Mastroberardino, G.M.S. Mancini;
Rotterdam, Netherlands

C05.6 Genome wide detection of somatic mutations in human muscle stem cells

Irene Franco, A. Johansson, K. Olsson, P. Vrtačnik, P. Lundin, H.T. Helgadottir, M. Larsson, G. Revêchon, C. Bosia, A. Pagnani, P. Provero, T. Gustafsson, H. Fischer, M. Eriksson;
Huddinge, Sweden

Chair: Isabella Ceccherini, Sabrina Giglio
Room: Yellow 1+2

C06.1 Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene

Laurence Faivre, C. Esteve, L. Francescatto, P.L. Tan, A. Bourchany, C. Delafoulhouze, E. Marinier, P. Bourgeois, C. Brochier-Armanet, A. Bruel, A. Delarue, Y. Duffourd, E. Ecochard-Dugelay, O. Goulet, P. Gauchez, E. Gonzales, C. Guettier-Bouttier, F. Huet, M. Komutora, G. Hery, C. Lacoste, R. Maudinas, K. Mazodier, Y. Rimet, J. Rivière, B. Roquelaure, J. Sarles, S. Sigaudy, E. Savajols, X. Stephenne, C. Thauvin-Robinet, J. Thevenon, N. Levy, C. Badens, J. Hugot, N. Katsanis, A. Fabre;
Dijon, France

C06.2 Targeted NGS in primary ciliary dyskinesia: expanding mutation spectrum and novel dynein-related gene discovery

Mahmoud R. Fassad*, A. Shoemark, J. Hayward, M. Patel, P. le Borgne, F. Koll, N. Rumman, H. Morsy, W.I. Shoman, N. Fasseeh, L. Pereira, C. Constant, A. Pinto, S. Lopes, NE Thames Regional Genetics Service, M. Lemullois, A. Aubusson-Fleury, A. Tassin, UK National PCD Service, H.M. Mitchison;
London, United Kingdom

C06.3 Targeted exon skipping of a CEP290 mutation is able to rescue cellular and ciliary phenotypes in vitro and in vivo

Elisa Molinari*, S.A. Ramsbottom, S. Srivastava, C.G. Miles, J.A. Sayer;
Newcastle upon Tyne, United Kingdom

C06.4 Single cell RNA sequencing of T cells in Crohn’s disease identifies tissue specific drug targets

Michiel D. Voskuil*, W.T.C. Uniken Venema, A. Vich Vila, R.K. Weersma, E.A.M. Festen;
Groningen, Netherlands

C06.5 Mutations in BNC2 Lead to Autosomal-Dominant Lower Urinary Tract Obstruction (LUTO)

C.M. Kolvenbach, S. Frese, G.C. Dworschak, A. Japp, J.M. Schmidt, M. Zaniew, W. Newman, G. Beaman, H. Stuart, A. Woolf, R. Cervellione, W. Rösch, S. Weber, W. Merz, F. Hildebrandt, M. Feldkötter, B. Hoppe, H. Thiele, J. Altmüller, C. Berg, M. Ludwig, P. Grote, H. Reutter, B. Odermatt, Alina C. Hilger*;
Bonn, Germany

C06.6 Large-scale trans-ethnic genome-wide association study reveals novel loci, causal molecular mechanisms and effector genes for kidney function

Andrew P. Morris, A. Akbarov, M. Tomaszewski, N. Franceschini, COGENT-Kidney Consortium;
Liverpool, United Kingdom

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

18:30 – 20:30 hrs | Plenary Session PL2

Plenary Session PL2 “What’s New?” – Highlight Session & Late Breaking Presentations

Chair: Christine Patch, Joris Veltman

Room: Gold Room

PL2.1 Genomic sequencing 15,000 healthy elderly individuals – Implications for clinical genetics

Paul Lacaze, R. Sebra, M. Riaz, R. Woods, I. Winship, ASPREE Investigator Group, ASPREE Healthy Ageing Biobank, E. Schadt, J. McNeil;
Melbourne, Australia

PL2.2 CRISPR-QTL mapping as a genome-wide association framework for cellular genetic screens of the noncoding genome

Molly Gasperini*, A. Hill, J.L. McFaline Figueroa, B. Martin, C. Trapnell, N. Ahituv, J. Shendure;
Seattle, United States

PL2.3 Elimination of aneuploid cells in the early mammalian embryo

Shruti Singla*, M. Zernicka-Goetz;
Cambridge, United Kingdom

PL2.4 SLC10A7 mutations in human and mouse cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Johanne Dubail, C. Huber, S. Chantepie, S. Sonntag, B. Tüysüz, E. Mihci, C. Gordon, E. Steichen-Gersdorf, J. Amiel, B. Nur, I. Stolte-Dijkstra, A. van Eerde, K. van Gassen, C. Breugem, A. Stegmann, A. Bruneel, N. Seta, A. Munnich, D. Papy-Garcia, M. De La Dure-Molla, V. Cormier-Daire;
Paris, France

PL2.5 Local and global chromatin interactions are altered by large genomic deletions associated with human brain development

X. Zhang, Y. Zhang, Bo Zhou, C. Purmann, M.S. Haney, T.R. Ward, J. Yao, S.M. Weissman, A.E. Urban;
Palo Alto, United States

PL2.6 miR-204 overexpression exerts a protective role in inherited retinal diseases

M. Karali, E. Marrocco, M. Pizzo, I. Guadagnino, A. Carissimo, I. Conte, E.M. Surace, Sandro Banfi;
Pozzuoli, Italy

Late Breaking Presentations (10 ‘ each)

LB1 NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses

N. J. Van Bergen, Y. Guo, J. Rankin, N. Paczia, J. Becker-Kettern, L. S. Kremer, A. Pyle, J. Conrotte, C. J. Ellaway, P. Procopis, K. Prelog, T. Homfray, J. Baptista, E. Baple, M. Wakeling, S. Massey, D. P. Kay, A. Shukla, K. M. Girisha, L. E. S. Lewis, S. D. Santra, R. Power, P. Daubeney, J. Montoya, E. Ruiz-Pesini, R. Kovacs-Nagy, M. Pritsch, U. Ahting, D. R. Thorburn, H. Prokisch, R. Taylor, J. Christodoulou, C. Linster, S. Ellard, H. Hakonarson;
Melbourne, Australia

LB2 GTF2I regulates social behavior by promoting neuronal maturation: implications for Williams-Beuren and 7q11.23 microduplication syndromes

A. Lopez Tobon, R. Shyti, E. Villa, N. Caporale, S. Trattaro, C. Cheroni, F. Troglio, B. Marcó de la Cruz, M. Gabriele, N. Malerba, F. Kooy, G. Merla, G. Testa;
Milan, Italy

LB3 Biallelic mutations of the dihydroceramide desaturase DEGS1 gene cause a novel hypomyelinating leukodystrophy with a therapeutic hope

A. Pujol, D. Pant, A. Schluter, N. Launay, S. Aguilera, M. Willis, L. Colleaux, I. Dorboz, M. Patterson, J. Gleeson, O. Boespflug-Tanguy, A. Fatemi, J. Terriente, C. Pujades;
Barcelona, Spain

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

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Sunday