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International Conference of Rare Diseases and Orphan Drugs (ICORD) is a world reference organization in rare diseases.
At the general assembly of ICORD (International Conference of Rare Diseases and Orphan Drugs) held on April 28, Dr. Joan Comella, director of the Vall d'Hebron Research Institute (VHIR), and until then a member of the board of directors, was appointed treasurer. In addition, Dr. Mireia del Toro, principal investigator of the Pediatric Neurology research group at the VHIR, associate physician of the Pediatric Neurology Service and President of the Commission for Rare Diseases of the Vall d'Hebron University Hospital, became part of the board. With these two appointments, Vall d'Hebron's position at ICORD is strengthened.
In January 2019, Vall d'Hebron Barcelona Hospital Campus became the host and coordinator of the International Conference of Rare Diseases and Orphan Drugs (ICORD), a world benchmark in rare diseases, replacing the Karolinska Institute in Stockholm. Currently the presidency is on Domenica Taruscio, director of the National Center for Rare Diseases of the National Institute of Health of Italy.
ICORD is an organization formed by stakeholders from different sectors related to rare diseases, from clinical professionals, researchers, representatives of the pharmaceutical industry and patient associations. This is precisely one of the distinctive features of the organization.
ICORD's strategic objectives are to promote and disseminate knowledge, treatment and research on rare diseases throughout the world, especially in areas that are underdeveloped or with little experience in organizational models for the global approach to these pathologies.
The Vall d'Hebron Campus, a benchmark in research and care for rare diseases
Vall d'Hebron is a benchmark in the organization of rare diseases with nearly 100 specialists who are dedicated to the care of more than 300 rare diseases. Apart from being the hospital that treats the most diseases of this type in Spain, it is one of the leading hospitals in Europe in this field. In fact, it is part of 10 European reference networks, known as ERNs. This makes this hospital a highly specialized center for treating rare diseases, from birth to adulthood of the patient, through a networked system that allows resources and knowledge to be shared with other top-level hospitals.
The fact of being a benchmark in a wide range of minority diseases allows improving the knowledge of pathologies, patient care and favoring 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. In the field 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 minorities is very broad and many researchers work organized in a cross-sectional research program.
To give just a few examples 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 center in the world to include a patient (a child of 5 years) in the phase 3 gene therapy clinical trial for Duchenne muscular dystrophy. In 2020, we obtained more than one million euros of profit from the exploitation of a patent license. It is a therapy for a mitochondrial disease caused by TK2 deficiency (TK2d).
On the other hand, in collaboration with EATRIS (European Infrastructure for Translational medicine), VHIR participates in the European Join Program on Rare Diseases (EJPRD), mainly coordinating the Mentoring Program where personalized support is given to translational projects of minority diseases, with the aim 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 cover the financing needs of projects in the exploitation phase.
Paediatric Neurology, Children's Hospital and Woman's Hospital
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