Genomic medicine, translational research and patient empowerment main topics of the 3rd Bellvitge Rare Diseases Conference

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Bellvitge University Hospital has an expertise in more than 200 rare diseases suffered by more than 3,000 patients.

Genomic medicine and the molecular approach to rare diseases, translational research and medicine and patient experience and empowerment were some of the topics discussed today at the 3rd Conference of the Bellvitge University Hospital's Rare Diseases Group, which was held in the hospital's auditorium.

Five years after its creation, the Rare Diseases Group has organised this new conference as a meeting point for professionals as well as an update on some of the advances in the diagnosis, treatment and research of these diseases. Bellvitge University Hospital (HUB) has an expertise in more than 200 rare diseases suffered by more than 3,000 patients, most of whom are treated by interprofessional units. The experience of these units has led to official accreditation at Catalan level (with the Clinical Expertise Units, UECs), Spanish level (with the Reference Centres, Services and Units, CSUR) and European level (with the European Reference Networks, ERN).

Dr Antoni Riera-Mestre, head of the Internal Medicine Department at the HUB and coordinator of the Rare Diseases Group, highlights the high number of patients treated at the hospital and the coordinated care they receive. “It is not only a multidisciplinary environment, but also an interprofessional one, with a very relevant role, in addition to doctors, of other professionals such as nurses, geneticists, physiotherapists, dieticians or psychologists, among others, to respond in the most comprehensive and integral way to the needs of these patients.”

The doctor also stresses the importance of the top-level research being carried out, especially bringing together clinical researchers with basic researchers in the framework of IDIBELL. “We build bridges between research groups, which creates very productive synergies. Clinical researchers transfer clinically relevant questions to the laboratory, where they are analysed. Then this information is returned to patients, with a high impact on clinical practice.”

Currently, one of the hot topics in the rare diseases field is the rapid progress being made in diagnosis and gene therapy in different areas. In this sense, the latest advances in genomics in diseases such as neurohereditary pathologies or hereditary retinal dystrophies, among others, were presented during the conference, in addition to presentations on advances in the molecular approach to rare diseases, studies in genetic consultation or pre-implantation diagnosis.

Rare diseases are those with a prevalence of less than one case per 2,000 population. It is estimated that there are more than 7,000 different diseases, most of which are genetic in cause.

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