3rd CNAG Symposium on Genome Research: Rare Diseases

 

26th February 2015 – Auditori Antoni Caparrós
Tower D - Barcelona Science Park
Baldiri Reixac, 4 – 08028 Barcelona

Download Program

 

8:30

 

Registrations

 

9:00

 

Welcome by Gabriel Capellà, member of the CNAG Board and Head of the Research and Innovation Program, Department of Health, Generalitat de Catalunya and by Ivo Gut, Director of the CNAG

 

 

9:30

 

Judith Melki, Professor of Medical Genetics, INSERM and University of Paris 11, Paris
"Disease gene identification in arthrogryposis multiplex congenita and orphan neuropediatrics diseases"

 

 

10:00

 

Alfons Macaya, Head Pediatric Neurology Research Group, VHRI, Barcelona
"NGS as diagnostic tool in early-onset enkephalopathies"

 

 

10:30

 

Tomasz Zemojtel, Labor Berlin and Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin
"Phenotype-driven computational analysis of the disease associated genome" 

 

11:00

 

COFFEE BREAK

 

11:30

 

Rafael Artuch, (CIBERER), Metabolical Diseases Lab, Sant Joan de Déu Hospital, Barcelona
“NGS for the study of genetic-metabolic diseases”

 

 

12:00

 

Antònia Ribes, (CIBERER), Division of Inborn Errors of Metabolism. Department of Biochemistry and Molecular Genetics. Hospital Clínic. Barcelona
“NGS in inherited metabolic diseases: usefulness of biochemical markers to direct the identification of disease causing genes”

 

12:30

 

Carmen Ayuso, (CIBERER), Chief Clinical Genetics Dep., IIS- Hospital Universitario Fundación Jiménez Díaz, Madrid
"NGS in rare ophthalmological diseases: Targeted and exome sequencing approaches"

 

 

13:00

 

Anne Bowcock, Chair in Cancer Genomics, Imperial College, London
"Identification of rare variants in psoriatic arthritis" 

 

13:30

 

LUNCH

 

14:30

 

Sergi Castellví-Bel, Genetic Predisposition to Colorectal Cancer Group, IDIBAPS / CIBERehd / Hospital Clínic, CEK, Barcelona
"Whole-exome sequencing identifies new potential predisposition genes for familial colorectal cancer"

 

 

15:00

 

Conxi Lázaro, Head of the Molecular Diagnostic Unit, Hereditary Cancer Program, ICO, Barcelona
"Implementing NGS for Hereditary Cancer Diagnostics: finding the most suitable solution for day to day genetic testing"

 

 

15:30

 

Peter Robinson, Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin
“The Human Phenotype Ontology for Translational Research and Diagnostics of Copy Number Variant Disorders”

 

 

16:00

 

Sergi Beltran, Group Leader Bioinformatics Analysis, CNAG, Barcelona
"RD-Connect: an integrated platform for rare disease research"

 

 

16:30

 

Jordi Rambla, EGA Project Group, Bioinformatics and Genomics Programme, CRG, Barcelona
"The European Genome-phenome Archive and its relationship with Rare Diseases"