Workshop Program

Session themes

  • Somatic mutation profiling
  • Genomics in rare diseases
  • Transcriptomics
  • Epigenomics
  • Metagenomics
  • Translation to diagnosis and treatment


  • Sergi Castellví-Bel (Spain)
  • Cristina Fillat (Spain)
  • Meritxell Gironella (Spain)
  • Thomas Ried (USA)
  • Lluís Hernández (Spain)
  • Sílvia Beà (Spain)




WORKSHOP 13-14 March 2014

  • 8:00 Registration
  • 9:00-9:15 Welcome address
    Elias Campo (institutional host)

Inaugural talk

  • 9:15-10:00 Carlos López-Otín (Spain) / The genomic landscape of cancer: the CLL experience

Somatic mutation profiling
Chairs: Jordi Camps / Lluís Hernández

  • 10:00-10:35 Sílvia Beà (Spain) / The complex architecture of genetic alterations in mantle cell lymphoma
  • 10:35-11:10 Beatriz Carvalho (Netherlands) / DNA copy number changes in colorectal adenoma-to-carcinoma progression and its application in early diagnosis of colorectal cancer
  • 11:10-11:30 Coffee break and poster session
  • 11:30-11:45 Núria López-Bigas (short talk)) / Therapeutical landscape of cancer drivers
  • 11:45-12:00 David Torrents (short talk)) / SMUFFIN, a reference-free approach to accurately detect somatic variants, identifies complex structural alterations in cancer at base pair resolution level
  • 12:00-12:35 Rameen Beroukhim (USA) / Somatic copy number changes in cancer
  • 12:35-13:50 Lunch and poster session

Chairs: Patricia Lepage / Joan Marc Servitja

  • 13:50-14:25 Trine Nielsen (Denmark) / Gut microbiota and metabolism
  • 14:25-15:00 Patricia Lepage (France) / Next generation sequencing of the gut microbiome

Chairs: Muneesh Tewari / Meritxell Gironella

  • 15:15-15:50 Xin W. Wang (USA) / Molecular profiling of human hepatocarcinogenesis
  • 15:50-16:10 Coffee break and poster session
  • 16:10-16:45 Muneesh Tewari (USA) / Circulating microRNAs: a novel class of non-invasive biomarkers
  • 16:45-17:00 Bernat Gel ((short talk) / Clusters of differentially expressed genes caused by regional genomic and epigenomic alterations help to identify malignant peripheral nerve sheath tumor drivers
  • 17:00-17:15 Joan Anton Puig-Butillé(short talk ) / Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer
  • 17:15 Group photo




WORKSHOP 13-14 March 2014

Translation to diagnosis and treatment
Chairs: Jaume Bosch / Sofia Pérez del Pulgar

  • 9:00-9:35 Hans Kristian Moen Vollan & Anne-Lise Børresen-Dale (Norway) / Translating research in breast cancer into patient care
  • 9:35-10:10 Jonel Trebicka (Germany) / New therapeutic targets in hepatic cirrhosis
  • 10:10-10:45 Alexandra Martins (France) / Ex vivo screening techniques for functional evaluation of human germline mutations
  • 10:45-11:05 Coffee break and poster session
  • 11:05-11:20 Carlos Fernández-Carrillo (short talk) / Interferon lambda 4 (IFNL4) polymorphism predicts response to hepatitis C treatment after liver transplantation
  • 11:20-11:35 María Dolores Giráldez (short talk) / Ultrasound-induced release of cancer associated miRNAs in a rat prostate cancer model: Pilot evaluation of ultrasound liquid molecular biopsy

Chairs: Stephan Beck / Iñaki Martín-Subero

  • 11:35-12:10 Stephan Beck (UK) / Insights into cancer epigenome dynamics through methylome analysis
  • 12:10-12:45 Hui Shen & Peter W. Laird (USA) / Zooming in on the cancer epigenome
  • 12:45-13:00 Ana C Queiros (short talk) / A B-cell epigenetic signature defines three biological subgroups of chronic lymphocytic leukemia with clinical impact
  • 13:00-13:15 Laia Paré-Brunet (short talk) / Cis-regulatory gene expression SNPs and methylation regions quantitative trait loci in colorectal cancer
  • 13:15-14:30 Lunch and poster session

Genomics in rare diseases
Chairs: Cristina Fillat / Sergi Castellví-Bel

  • 14:30-15:05 Anne Galy (France) / Gene therapy strategies for rare disease treatment
  • 15:05-15:40 Antònia Ribes (Spain) / Genomics in inherited metabolic diseases
  • 15:40-16:15 Daniel Chubb & Richard Houlston (UK) / Next generation sequencing in germline colorectal cancer samples
  • 16:15-16:35 Coffee break and poster session
  • 16:35-16:50 Richarda M de Voer (short talk) / Loss of a regulatory element may determine endometrial cancer risk in EPCAM deletion carriers
  • 16:50-17:05 María Victoria Cascajo (short talk) / New insights in CoQ10 biosynthesis: COQ7 gene is postranscriptionally regulated by RNA-binding protein

Closing talk

  • 17:05-17:50 Xavier Estivill (Spain). Personal genomics and disease: prevention, diagnosis and treatment
  • 17:50-18:00 Closing remarks: Elias Campo (institutional host)