The Federation Hospitalo-Universitaire (FHU) TRANSLAD (Translational Medicine in Rare Diseases with Anomalies of Development) is a genomic innovation project, original, innovative, of international scale and organised at the service of patients and their families. Individually rare, but numerous (more than 4,000 different diseases) and collectively common (1-3 % of the population), rare diseases with developmental abnormalities are a major public health issue. The IMPADIAG 2020 project aims to combat the diagnostic deadlock by optical mapping of DNA molecules, in order to identify new genetic abnormalities, and the development of targeted functional studies in cellular and animal systems, to conclude on their involvement in human pathology. Research on development anomalies thus requires an integrated and multidisciplinary approach. The acquisition of new innovative technologies, which are not yet available in France to most research laboratories, will allow FHU TRANSLAD to take a step ahead of the knowledge and mastery of these approaches at national and international level. Strategically, these investments will confirm its place among the reference teams in the field of translational genomics research in the coming years.