Sunday, June 7, 2015

08.30 - 10.00

Concurrent Symposia S01 - S04

S01. Big Data Genomics and Human Knock-outs

S01.1 Integrative analysis of 80,000 whole exome sequencing and the Human Knock-out Project
Daniel MacArthur, United States

S01.2 Identification of a large set of rare complete human knockouts
Patrick Sulem, Iceland

S01.3 SISu project: 200,000 near complete sequences of Finns
Aarno Palotie, Finland

S02. Building Bridges Session -  Genetic testing in Children
Joint with the American Society of Human Genetics - ASHG

S02.1 Whole genome sequencing in newborn screening? A Statement on the continued importance of targeted approaches in newborn screening programmes
Heidi Howard, Sweden
S02.2 The 2014 ASHG Statement on Genetic testing in Children and Adolescence 
Jeff Botkin, United States

S02.3 Carrier testing in Children and Adolescence
Sylvia Metcalfe, Australia

S03. Epigenetic Basis of Disease

S03.1 Heritable germline epimutations in humans
Bernhard Horsthemke, Germany

S03.2 Maternal obesity during pregnancy and offspring later life disease
Rebecca Reynolds, United Kingdom

S03.3 Regional activation of the cancer genome by long range epigenetic remodelling
Susan Clark, Australia

S04. Spliceosome-opathies

S04.1 Spliceosome biology: Understanding causes and consequences of splicing mutations

Mikko Frilander, Finland

S04.2 Spliceosome and development in human
Jeanne Amiel, France

S04.3 Spliceosome and cancer
Philipp Greif, Germany

08.30 - 10.00

Educational Session 5

ES5. Automating Clinical Genetics

ES5.1 GeneConsult, Phenomizer, Face2gene  with short presentations how they work and test cases to compare the tools
Peter Robinson, Germany

Coffee Break, Free Poster Viewing, Exhibition

10.30 - 11.30

Poster Viewing with Authors (Poster numbers starting with "PS")

11.30 - 13.30

Free Poster Viewing, Exhibition, Lunch as of 12.15 hrs

11.45 - 13.15

Educational Session 6

ES6. My vision on Genomic medicine

ES6.1 The 100,000 Genomes Project, Bringing Personalised Medicine Into Healthcare
Mark Caulfield, United Kingdom

11.45 - 13.15

Corporate Satellites

13.30 - 15.00

Concurrent Sessions C07 - C12

See detailed session programme

C07 Reproductive Genetics
C08 Integrative OMICS approaches in common traits
C09 Genetic susceptibility to cancer development
C10 Neurogenetic disorders
C11 Skeletal disorders
C12 Sensory disorders

15.30 - 17.00

Workshops WS03 - WS09

WS03. NGS in the clinic

Organiser: J. Veltman

WS04. Dysmorphology 1

Organisers: D. Donnai & S. Douzgou

WS05. Pre-conception carrier testing

Organisers: L. Henneman & U. Kristoffersson

WS06. Blurred boundaries between clinic and research

Organisers: M. Macek Jr. & T. Clancy

WS07: European Board of Medical Genetics: What can we do to facilitate you to become a registered genetic professional?

Organisers: F. Ramos. & D. Coviello

WS08. Ensembl Highlights: What's New in Accessing our Genomes?

Organiser: D. Carvalho-Silva

WS09: Global Alliance for Genomics and Health

Organiser: J. Skinner

15.30 - 17.00

Corporate Satellites

17.30 - 19.00

Concurrent Symposia S05 - S08

S05. Reproductive genetics and ”Chromosome therapy”

S05.1 Using XIST to Silence Trisomy 21: Implications for Cell and Chromosome Therapy 
Jun Jiang, Y. Jing, G. Cost, J. Chiang, H. Kolpa, A. Cotton, D.M. Carone, B.R. Carone, M. Byron, P.D. Gregory, C.J. Brown, F.D. Urnov, L.L. Hall, J.B. Lawrence;

Worcester, United States

S05.2 Having developed an accurate noninvasive prenatal test for aneuploidies - What else can we work on?
K.C. Allen Chan, China 

S05.3 Status and outcome of randomized trials for aneuploidy screening preimplantation embryos
Jan Traeger-Synodinos, Greece

S06. International data sharing initiatives

S06.1 DECIPHER
Helen Firth, United Kingdom

S06.2 Sharing Data in Cancer Genomics; Lessons from the International Cancer Genome Consortium
 Sean Grimmond, United Kingdom

S06.3 The Challenge of the Global Variome
John Burn, United Kingdom

S07. Mouse Phenotyping for clinical research

S07.1 The International Mouse Phenotyping Consortium:  New insights into the genetic and molecular bases of disease 
Steve Brown, United Kingdom

S07.2 Investigating genetic diseases with intellectual disability in the mouse
Yann Hérault, France

S07.3 Deciphering the genetic and epigenetic role in metabolic diseases
Martin Hrabé de Angelis, Germany

S08. Telomeres in Human Disease

S08.1  Constitutional and somatic variations in telomerase reverse transcriptase and human cancer 
Rajiv Kumar, Germany

S08.2 The role of telomeres in aging
Christian Bar, Spain

S08.3 Novel insights into the telomere syndromes
Inderjeet Dokal, United Kingdom

17.30 - 19.00

Educational Session 7

ES7. Imprinting-related Disorders

ES7.1 Imprinting and long noncoding RNAs in health and disease
Marisa S. Bartolomei, United States

ES7.2 Diagnosing imprinting-related disorders
Karen I. Temple, United Kingdom

19.00 - 20.30

Corporate Satellites

19.00 - 20.00

ESHG Membership Meeting