The fact of being a benchmark in a wide range of minority diseases allows improving knowledge of pathologies, patient care and favouring the research carried out at Vall d'Hebron. In minority diseases, research is focused on improving the diagnostic capacity of pathologies that in many cases are difficult to diagnose, and on the development of new therapies. Within the scope of research, the Vall d'Hebron Research Institute (VHIR) has 14 groups dedicated to the study of rare diseases, such as Genetic Medicine, Pediatric Neurology, Neuromuscular and Mitochondrial Pathology, Neurodegenerative Diseases, among others. VHIR's research activity in the field of minority diseases is very broad and many researchers work.To give just an example of all the work that is carried out in this regard, it must be remembered that, at the end of last year, Vall d'Hebron became the first centre in the world to include a patient (a 5 year old child) in the phase 3 gene therapy clinical trial for Duchenne muscular dystrophy. In 2020, Vall d'Hebron obtained more than one million euros of profit for the exploitation of a patent license. It is a therapy for a mitochondrial disease caused by TK2 deficiency (TK2d). Just this year the IMPERAS project has started, where Vall d'Hebron is involved as a reference centre for sarcomas that visits an average of more than 200 patients a year and cares for more than a hundred new ones. IMPERAS wants to establish the bases to improve the diagnosis of soft tissue and visceral sarcomas throughout the State, through the creation of a hospital collaboration network. More than 200 professionals participate and there are one hundred affiliated centres. On the part of the VHIR, the research group in Translational Molecular Pathology participates. Soft tissue sarcomas are a relatively rare group of tumours but affect more than 2,000 patients a year throughout the State. They are very aggressive tumours and difficult to diagnose, since there are more than 70 different types. With the IMPERAS project, we want to carry out a study of the impact on survival and quality of life of the centralized review of the diagnosis in soft tissue sarcomas to minimize diagnostic errors, a fact that will translate into an increase in survival and quality life of the sick.The VHIR has also spent years engaged in biomedical research on Dent's disease, a pathology that affects various kidney functions. We lead the investigation of the disease with the participation of the VHIR research group in Renal Physiopathology -CIBBIM- Nanomedicine. On the other hand, in collaboration with EATRIS (European Infrastructure for Translational Medicine), the VHIR participates in the European Join Program on Rare Diseases (EJPRD), mainly coordinating the Mentoring Program where customized support is given to translational projects of minority diseases, with the goal of accelerating the development of effective treatments. It also collaborates in the development of digital tools and resources to empower researchers in the conduct of research and in the implementation of support mechanisms that help meet the financing needs of projects in the exploitation phase.Reference centre at European levelThe Vall d'Hebron Campus is a benchmark in rare diseases, both at the healthcare and research level, where more than 100 specialist professionals dedicated to the care of more than 2,000 rare diseases work. It should be noted that despite the impact of the pandemic throughout last year, right now the care activity in minorities has recovered in practically all units and services, in terms of consultations, tests and interventions. In addition, Vall d'Hebron specializes in caring for patients with rare diseases at all stages, from birth to adulthood, with special attention to changes in adolescence and preparation for transfer to adult units. On the other hand, it is the state hospital that treats more patients with rare diseases. And the Vall d'Hebron Campus is the headquarters of ICORD (International Conference on Rare Diseases and Orphan Drugs), an organization that includes actors from different sectors linked to rare diseases, from clinical professionals, research staff, representatives of the pharmaceutical industry to patient associations, and participates in ten ERNs (European Reference Networks), a fact that places it as the State hospital that is present in the most European networks. Likewise, it is part of the five Xarxes d'Unitats d'Expertesa Clínica (XUEC) approved by CatSalut within the framework of the deployment of the care model for minority diseases in Catalonia and is the only centre approved for the care of children and Adults.Throughout the State, around 3 million people suffer from some rare diseaseIt is estimated that in the world there are between seven and eight thousand rare diseases. Between 5% and 7% of the population suffer from them and they are serious diseases. It is estimated that in Catalonia between 300,000 and 400,000 people suffer from them, about 3 million throughout the State. Most have a genetic basis, affect various organs and systems of our body and cause an intellectual or physical disability. The fact that there is such a wide range of diseases of this type and that it affects few patients means that they are also little known to medical professionals, which is why the patient often has to undergo numerous tests and visit several specialists until you have a definitive diagnosis.