The European Society
of Human Genetics

Sunday, May 22

Sunday, May 22, 2016

08.30 - 10.00

Concurrent Symposia S01 - S04


S01. The future lies in uncertainty - joint with EMPAG (Plenary Hall)

S01.1 Tolerating uncertainty in the clinic; The impact of new genetic technologies
Anneke Lucassen, UK

S01.2 Personal genomic testing: How individuals understand and respond to genetic risk information
Scott Roberts, US

S01.3 The blessings of uncertainty in the genomics era
Aad Tibben, NL

S02. Understanding functional effects of genomic variants (Room 112)

S02.1 Using single-cell RNAseq to understand effects of rare variants
Steve McCarroll, US

S02.2 RNA splicing is a primary link between genetic variation and disease
Yoav Gilad, US

S02.3 Mapping genetic effects in single-cell transcriptomes
Oliver Stegle, UK

S03. Hereditary cancer (Room 117)

S03.1 Hereditary colorectal cancer: Recent advances and future perspectives
Laura Valle, ES

S03.2 Familial pancreatic cancer: advances in genetics and prevention 
Alison P. Klein, US

S03.3 The genetics of skin and uveal melanoma
Nickolas K. Hayward, AU

S04. From families to populations and back (Room 113+114)

S04.1 Combining family and population sequencing to elucidate the genetic architecture of cardiometabolic risk traits
Nelson Freimer, US

S04.2 Population biobanks: a crucial hub in clinical research
Cisca Wijmenga, NL

S04.3 Cost effective designs with population specific imputation panels in the Sardinian isolate
Serena Sanna, IT

08.30 - 10.00

Educational Session 5

E5. Ciliopathies  (Room 115+116)

E05.1 Cilia in human developmental anomalies
Enza Maria Valente, IT

E05.2 Expanding Ciliopathies
Hannah Mitchison, UK

10.00 - 10.15Coffee Break, Exhibition

10.15 - 11.15

Poster Viewing with Authors - Group A

11.15 - 13.00Free Poster Viewing, Exhibition, Lunch break

11.15 - 12.45

Corporate Satellites


15.00 - 16.30

Workshops WS05 - WS11 - Click on the titles to see detailed programmes

W05. NGS in the Clinic* (Plenary Hall)
Organisers: Vincenzo Nigro, Gijs Santen

W06. Dysmorphology 1* (Room 112)
Organisers: Jill Clayton Smith, Sofia Douzgou

W07. Copy Number Variant Interpretation and Classification* (Room 117)
Organisers: Eva Klopocki, Nicole de Leeuw

W08. Pre-conception carrier testing (Room 113+114)
Organisers: Lidewij Henneman, Borut Peterlin

W09. How to get published (Room 115+116)
Organiser: GertJan van Ommen

W10. Genome Browser UCSC* (Room 111)
Organiser: Robert Kuhn

W11. Gene regulation (Room 118+119)
Organisers: Sergi Beltran, Alexandre Reymond

*Interactive workshops - your input is sollicited. See details for more information.

15.00 - 16.30

Corporate Satellites

16.30 - 16.45Coffee Break, Free Poster Viewing, Exhibition

16.45 - 17.45

Poster Viewing with Authors - Group B


17.45 - 19.15

Concurrent Symposia S05 - S08

S05. Circulating Cell-Free Nucleic Acids (Plenary Hall)

S05.1 NIPT versus Traditional Multiple Marker Screening for All Pregnancies—Time for Consideration 
Mary Norton, US

S05.2 Circulating Tumour DNA & Circulating Tumour Cells: Complimentary Approaches
Caroline Dive, UK

S05.3 Genomewide plasma DNA sequencing for cancer detection and noninvasive prenatal testing
Dennis Lo, HK

S06. Behavioural disorders (Room 112)

S06.1 Using next-generation sequencing to understand the genetics of autism
Evan Eichler, US

S06.2 A highly conserved programme of neuronal microexons is misregulated in autistic brains
Manuel Irimia, ES

S06.3 Genetics of schizophrenia
Michael O'Donovan, UK

S07. Long distance regulation of transcription and translation (Room 117)

S07.1 Gene regulation dynamics and chromatin architecture during development and evolution
Jose Gomez-Skarmeta, ES

S07.2 Dissecting mammalian transcriptional organization by analyzing the content of transcription factories
Argyris Papantonis, DE

S07.3 Decoding the non-coding landscape
Manolis Kellis, US

S08. Sensory disorders (Room 113+114)

S08.1 Functional studies reveal how mutations of MYO15A cause human deafness DFNB3
Thomas Friedman, US

S08.2 Genetics of visual impairment
Daniel Schorderet, CH

S08.3 Genetics of Pain sensitivity
Geoff Woods, UK

17.45 - 19.15

Educational Session 6

E6. Cost-effectiveness in genetic testing (Room 115+116)

E06.1 Cost-effectivness of diagnostics in rare diseases
Kathrine Payne, UK

E06.2 Cost-effectivness of testing in cancer
Wolf Rogowski, DE


19.15 - 20.15

ESHG Membership Meeting (Room 118+119)