Madrid, 5th July 2018 - Aula Magna, Fundación Jiménez Díaz


Over 30 million Europeans are affected by a rare disease at some point in their lives. Although individually uncommon, rare diseases collectively affect as many as 7% of the population or 1 in 17 people. 80% of these diseases are of genètic origin. It is essential to use DNA and RNA sequencing and analysis to identify genetic variants that give rise to rare diseases in order to advance research and treatments in this field.


Recent advances in genomics and technology are having big impact in the care of patients with rare diseases. It is necessary that cutting-edge genomic research translates into clinical care helping to understand the biology of rare diseases. Given this scenario, the CNAG-CRG, as one of the top genome centers in Europe, is getting more and more involved in rare disease research.


In this symposium, coorganized by the Biomedical Research Institute Fundación Jimenez Diaz (IIS-FJD, UAM), the CIBER of Rare Diseases (CIBERER) and CNAG-CRG, we want to bring together scientists of different fields who have carried out rare diseases analysis projects and who will present their latest research discoveries and ideas.


It will take place the 5th July at the Aula Magna in the Fundación Jiménez Díaz (Madrid). Participation is free of charge. However, REGISTRATION IS REQUIRED since space is limited.





Confirmed Speakers:


Carmen Ayuso, Director of the Biomedical Research Institute Fundación Jimenez Diaz (IIS-FJD, UAM)

Sergi Beltran, Head of the Bioinformatics Analysis Unit, Centro Nacional de Análisis Genómico (CNAG-CRG)

Mark Caulfield, Chief Scientist of Genomics England, Co-Director of the William Harvey Research Institute, Queen Mary University of London


Encarnación Guillén, Medical Genetics, Hospital Clínico Universitario Virgen de la Arrixaca


Pablo Lapunzina, Scientific Director, CIBERER

Hanns Lochmüller, Dept. of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg and Centro Nacional de Análisis Genómico (CNAG-CRG)

Chitra Kotwaliwale, Senior Global Product Manager – NGS Technology Group, Diagnostics and Genomics, Agilent Technologies

Lluís Montoliu, Department of Molecular and Cellular Biology, National Centre of Biotechnology (CNB-CSIC) and CIBERER ISCIII

Sara Pasalodos, NAGEN 1000 Project Manager, Medical Genetics Service, Navarrabiomed, Biomedical Research Centre


Belén Pérez, Assoc. Prof. in Biochemistry and Molecular Biology, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM)-UAM


Sponsored by:



Agilent is a leader in life sciences, diagnostics and applied chemical markets. The company provides laboratories worldwide with instruments, services, consumables, applications and expertise, enabling customers to gain the insights they seek. Agilent’s expertise and trusted collaboration give them the highest confidence in our solutions.


This symposium is also supported by the Rare Genomics Net (Red de investigación en enfermedades raras)