The European Society
of Human Genetics

Monday, June 8

Monday, June 8, 2015

08.30 - 10.00

Concurrent Symposia S09 - S12

S09. Evolution of the cancer genome: Clinical implications

S09.1 The AML Genome(s)
Timothy J. Ley, United States

S09.2 Reconstruction of clonal composition in cancer
Ville Mustonen, United Kingdom

S09.3 Genomic medicine to tailor cancer drugs
Nicola Normanno, Italy


S10. From rare to common variants in cardiovascular diseases (joint with the European Society of Cardiology)

S10.1 Genomics and Hypertension
Anna Dominiczak, United Kingdom

S10.2 Ten Years Later : How The Pcsk9 Gene Discovery Affects the Diagnosis and Treatment of Hypercholesterolemia    
Catherine Boileau, France

S10.3 Genetic variation in APOC3, plasma triglycerides and risk of ischemic cardiovascular disease
Anne Tybjaerg-Hansen, Denmark


S11. Non-coding DNA and human disease

S11.1 Retrotransposons and human disease   
Jose Luis García-Pérez, Spain

S11.2 CNVs of noncoding cis-regulatory elements in human disease   
Eva Klopocki, Germany

S11.3 A Novel Dicer1-miR328-Bace1 Signaling Axis Controls Ageing- and Obesity-Induced Brown Fat Dysfunction
Jan-Wilhelm Kornfeld, Germany


S12. Mitochondria and Genetic Disease

S12.1 Mitochondria in neurodegeneration   
Eric Schon, United States

S12.2 Mitochondrial dynamics in the pathophysiology of genetic disease   
Luca Scorrano, Italy

S12.3 Gene therapy for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Ramon Martí, Spain

08.30 - 10.00

Educational Session 8

 

ES8. Palliative Care of Genetic Conditions    

ES8.1 Wishes for the end of life in Huntington's disease
Suzanne Booij, The Netherlands

ES8.2 End of life decision making in neonates
Eduard Verhagen, The Netherlands

 
10.00 - 10.30

Coffee Break, Free Poster Viewing, Exhibition

  

10.30 - 11.30

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

 
11.30 - 13.30Free Poster Viewing, Exhibition, Lunch
 

11.45 - 13.15

Corporate Satellites

 

13.30 - 15.00

Concurrent Sessions C13 - C18

See detailed session programme

C13 Fundamental insights in structural genomics
C14 Challenges in genetic counselling
C15 Network and functional analysis in intellectual disability
C16 Growth failure and microcephaly
C17 Epigenetic control of gene expression
C18 Metabolic and renal disorders

 
15.00 - 15.30Vitamin Break, Free Poster Viewing, Exhibition
 

 

15.30 - 17.00

Workshops W10 - W16

See workshop programmes (as submitted by the organisers)

WS10. Practical Bioinformatics Whole exome sequence analysis

Organisers: P. Robinson


WS11. Dysmorphology 2

Organisers: D. Donnai & S. Douzgou


WS12. Reproductive genetics

Organisers: J. Vermeesch, E. Iwarsson


WS13. Clinical Cancer Genetics

Organisers: M. Genuardi & D. Stoppa-Lyonnet


WS14. Copy Number Variant Interpretation and Classification

Organiser: N. de Leeuw  & C. van Ravenswaaij-Arts


WS15: Genome Browser UCSC

Organiser: R. Kuhn


WS16: Genetics Clinic of the Future

Organiser: H. Kääriäinen & Terry Vrijenhoek

15.30 - 17.00

Corporate Satellites

 
17.00 - 17.30Coffee Break, Exhibition, Poster Removal
  

17.30 - 19.00

Concurrent Symposia S13 - S16

S13. Therapeutic Strategies for Genetic Diseases

S13.1 Nonsense suppression strategies to treat ocular malformations   
Cheryl Gregory-Evans, Canada

S13.2 Therapeutic targeting of the mTOR pathway
Julian R. Sampson, United Kingdom

S13.3 The Use of AAV in Cardiomyopathy
Hélène Puccio, France


S14. Genome Regulation

S14.1 Spatial organization of genomes
Bing Ren, United States

S14.2 Regulatory RNAs and eQTLs
Manolis Dermitzakis, Switzerland

S14.3 Mutations in regulatory domains in human disease   
Stan Lyonnet, France


S15. Somatic Mutation Detection and Interpretation

S15.1 How much of de novo is meiotic?
Pawel Stankiewicz, United States

S15.2 Selfish mosaicism: impact of somatic mutations occurring in the paternal germline
Anne Goriely, United Kingdom

S15.3 Somatic mutations in monozygotic twins
Eline Slagboom, The Netherlands


S16. Evolution and Disease

S16.1 The human Y chromosome in evolution and disease    
Chris Tyler-Smith, United Kingdom

S16.2 Ancient pathogen genomics of re-emerging infectious diseases   
Kirsten Bos, Germany (note the change of speaker)

S16.3 Evaluating human genetic (and epigenetic) adaption to pathogen pressures    
Lluis Quintana-Murci, France Talk had to be cancelled

17.30 - 19.00

Educational Session 9

ES9. Mutation Prediction Tools

ES9.1 Functional prediction of DNA sequence changes   
Sean Tavtigian, United States

ES9.2 Protein structures to advance therapeutic discoveries   
Wyatt Yue, United Kingdom

 

19.00 - 20.30

Corporate Satellites

 

19.30

ESHG Networking Party

(at own expense)

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