February 28 2018 (Rare Disease Day).- Rare Diseases are one of the world’s greatest health challenges. Statistics tell us that 1 in 17 people will be affected by a rare disease at some point in their lives. According to the European Union, diseases are considered rare when they affect no more than...
25 January 2018.- The RD-Connect coordination office announced yesterday that Dr Ivo Gut from the Centro Nacional de Análisis Genómico (CNAG-CRG) in Barcelona will serve as RD-Connect’s new scientific coordinator. Ivo takes over the coordination role from Dr...
Barcelona, 25 January 2018.- The whole-exome sequencing of a patient, published in the journal Scientific Reports, favoured the diagnoses of FOXP1 syndrome, a rare disease, which shows autist features and language delay. Only twenty people have been diagnosed with this genetic disease at a global...
The Vall d’Hebron Research Institute (VHIR), the Centre for Genomic Regulation (CRG), the August Pi i Sunyer Biomedical Research Institute  (IDIBAPS) and the Institute for Research in Biomedicine (IRB Barcelona) have launched the fourth call of the training programme “PhD for Medical Doctors –...
- The CNAG-CRG participates in a large consortium led by the University of Tübingen, the Radboud University Medical Center Nijmegen and the University of Leicester that has acquired a € 15 million grant for the SOLVE-RD research program. The consortium will use the funding to improve the diagnosis...
- The work, published in Nature Genetics, represents an important advance in our understanding of gene regulation and reveals a new layer of complexity that needs to be studied to properly interpret genomics and gene expression in the future.   - An example of how risky fundamental science with...

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