The European Society
of Human Genetics

Saturday, May 21

Saturday, May 21, 2016

08.00Registration opens

10.30 - 12.00

Educational Sessions 1-4

E1. Novel genome sequencing technologies (Plenary Hall) 

E01.1 Long-read sequencing of complex genomes
Evan Eichler, US

E01.2 Nanopore sequencing
Nick J Loman, UK

E2. Genetic Privacy and  Data Sharing joint with EMPAG (Room 115+116)

E02.1 The hitchhiker‘s guide to genome hacking
Yaniv Erlich, US

E02.2 The role of policy in navigating the privacy landscape and promoting responsible genomic data sharing
Edward Dove, UK

E3. Generation and use of induced pluripotent stem cells (Room 111)

E03.1 Induced pluripotent stem cell-based studies: challenges and promises
Angel Raya, ES

E03.2 Direct reprogramming for studies of aging and neurodegeneration
Henrik Ahlenius, SE

E4. Peroxisomal disorders - still a need for metabolic assays? (Room 122+123)

E04.1 Overview of peroxisomal disorders - diagnosis and management 
Nancy Braverman, CA

E04.2 The value of phenotypic assays in peroxisomal disorders
Hans Waterham, NL

10.30 - 12.00

Workshops WS01-WS04 - Click on the titles to see detailed programmes

W01. Big data in human genetics: opportunities and challenges? (Room 112)
Organisers: Kristel van Steen, Bertram Müller-Myhsok

W02. A case that changed my life as a geneticist (Room 117)

Organisers: Han Brunner, Milan Macek Jr.

W03. Career development and funding opportunities for young investigators (Room 113+114)

Organiser: Lude Franke 

W04. Pharmaco-genomics (Room 118+119)

Organisers: William Newman, Cristina Rodriguez-Antona

12.00 - 14.00Free Poster Viewing - Lunch Break
12.00 - 14.00Free poster viewing - Lunch break

12.15 - 13.45

Corporate Satellites


14.00 - 14.30

Opening - Welcome Adresses (Plenary Hall)


14.30 - 16.00

PL1 Opening Plenary Session (Plenary Hall)

PL1.1. RAS genes and Human Disease: From Rasopathies to Cancer
Mariano Barbacid, ES

PL1.2 The Spanish Experience of Retinal Dystrophies
Carmen Ayuso, ES

PL1.3 Deconstructing cancer and aging in the genomic era
Carlos Lopez-Otin, ES

16.00 - 16.30Coffee Break

16.30 - 18.00

Plenary Session PL2: What's New? Highlight Session (Plenary Hall)


Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies

Claire Redin*, H. Brand, R.L. Collins, C.H. Hanscom, V. Pillalamarri, T. Kammin, E. Mitchell, J.C. Hodge, S. Schilit, B.B. Curall, S. Pereira, C. Seabra, M. Stone, W. Lawless, D. Lucente, C. Antolik, R. Hochstenbach, I. Renkens, E. Brilstra, S. Vergult, B. Menten, S. Janssens, B. Callewaert, A. D’heedene, M. D’hooghe, F. Roelens, J. van de Kamp, A. Nieuwint, P.J. Poddighe, C. van Ravenswaaij-Arts, P. Rump, T. van Essen, J. Freixo, D. Deszo, E.C. Liao, N. de Leew, H.G. Brunner, W. Kloosterman, E.C. Thorland, C.C. Morton, J.F. Gusella, M.E. Talkowski;
Boston, United States


Formation and content of novel chromatin domains (neo-TADs) determine pathogenesis of genomic duplications

Martin Franke*, D.M. Ibrahim, G. Andrey, W. Schwarzer, V. Heinrich, R. Schöpflin, R. Kempfer, I. Jerkovi?, W. Chan, M. Spielmann, B. Timmermann, L. Wittler, I. Kurth, P. Cambiaso, O. Zuffardi, G. Houge, L. Lambie, F. Brancati, A. Pombo, M. Vingron, F. Spitz, S. Mundlos;
Berlin, Germany


Mutations in ACTRT1 and its transcribed non-coding elements lead to aberrant activation of the Hedgehog signaling pathway in inherited and sporadic basal cell carcinomas

Elodie BAL*, Z. Belaid-Choucair, H. Kayserili, M. Naville, M. Madrange, C. Gordon, clinical investigators, G. Gyapay, S. Fraitag, H. Roest Crollius, A. Munnich, P. Vabres, A. Smahi;
Paris, France


De novo mutations MSL3 gene cause a new recognizable syndrome

A. Bruel, I. Aktas, M. Basilicala, I. Van der Burgt, J. Morton, S. El Chehadeh-Djebbar, A. Hoischen, C. Gilissen, L. Vissers, R. Pfundt, C. Thauvin-Robinet, H. Brunner, J. Rivière, L. Faivre, A. Akthar, Julien Thevenon*;
Dijon, France


Haplotype-assisted noninvasive prenatal diagnosis of common monogenic diseases using massively parallel sequencing of plasma cell-free DNA

Ya Gao, F. Chen, Y. Yuan, Y. Wang, S. Lu, H. Jiang, X. Xu;
Shenzhen, China


Parent-of-origin specific signatures of de novo mutations

Jakob M. Goldmann*, W.S.W. Wong, M. Pinelli, T. Farrah, D. Bodian, A.B. Stittrich, G. Glusman, L.E.L.M. Vissers, A. Hoischen, J.C. Roach, J.G. Vockley, J.A. Veltman, B.D. Solomon, C. Gilissen, J.E. Niederhuber;
Nijmegen, Netherlands

18.00 - 18.30Coffee Break

20.00 - 21.30

Opening Networking Mixer at the CCIB on Level P2

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Presenting Authors marked with a * are competing for one of the ESHG Young Investigator Awards