Reaching out to comprehensively chart the composition of the human body, the Human Cell Atlas project conducts cellular phenotyping on single-cell level. RNA sequencing methods are at the forefront to inform about cell types and states. However, there are large differences between single-cell RNA...

The European Joint Programme on Rare Diseases brings over 130 institutions from 35 countries: 27 EU Member States (Austria, Belgium, Bulgaria, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Croatia, Ireland, Italy, Netherlands, Latvia, Lithuania, Malta, Poland,...

NAGEN: Proyecto Genoma 1000 Navarra (NAGEN 1000) is an initiative led by the Navarrabiomed biomedical research centre whose purpose is to transfer the use of the cutting-edge whole human genome analysis technology to Navarra’s public health care system. To this end, 1,000 genomes of patients with...

ChromDesign is an innovative and interdisciplinary network of 10 European academic and private institutions. Our aim is to characterise how 3D chromatin organisation affects gene regulation during cellular differentiation and in several human disorders. ChromDesign’s main focus is to investigate...

Patients with a rare disease generally go through a long and arduous process, sometimes lasting ten or fifteen years (also known as the rare disease odyssey), before finding a physician who knows what is wrong with them. Scientific advances can also take a long time, as it is difficult to find...

SPIDIA4P is a 48-month project funded by the European Commission under de H2020 program that brings together key experts of 19 stakeholder organisations, with the needed critical mass in knowledge on pre-analytical and analytical procedures, on European and international standardisation...