IDIBELL researchers lead Spanish database of rare diabetes syndromes

Spanish researchers have launched a national database to collect information on rare diabetic syndromes that are a group of rare inherited diseases whose common link is the body’s intolerance to glucose. Registration is focused on three rare diseases: Wolfram, Bardt-Biedl and Alström syndromes.

The initiative, named REWBA (Spanish Registry of Wolfram, Alström and Bardet-Biedl Syndromes), is led by researchers at the Bellvitge Biomedical Research Institute (IDIBELL) and the Centre for Biomedical Network Research on Rare Diseases (CIBERER). In addition, it counts with the collaboration of the University of Vigo and the CIBERER Biobank.

The Registration is open to patients, physicians, healthcare professionals and researchers. Its purpose is to collect information on diabetic syndromes referred to further their study in Spain.

The information in REWBA will serve to “physicians and researchers to better understand these diseases, to promote their application in clinical research and establish the basis for developing future treatments. This database will also be useful to establish any correlation between mutations and symptoms of the patient, to follow the evolution of the disease and analyze how different mutations affect its course”, as indicated Virginia Nunes, Miguel Lopez de Heredia and Diana Valverde, responsible for the REWBA ( database.

To facilitate the access of the researchers to samples that can be used in their studies, a collaboration agreement has been signed with the CIBERER Biobank, a public and non-profit biobank specialized in rare disease samples launched by CIBERER. The CIBERER Biobank will store and manage the donated samples.

Information for doctors
According to the project’s technical coordinator, Miguel Lopez de Heredia, CIBERER researcher in the Human Molecular Genetics Group at the IDIBELL, led by Virginia Nunes, professor at the University of Barcelona and group leader of CIBERER, “the database can collect information over 150 different symptoms, which will provide a detailed history of the patients.”

Improve the quality of life of patients
The project aims to improve the clinical practice: “We want to collect standardized data to understand the disease and to develop potential therapies”, said Lopez de Heredia. The researcher believes that the initiative will detect patients were incorrectly diagnosed as “to increase the visibility of the disease can recognize cases not previously been detected.” The ultimate objective of REWBA is to improve the quality of life of patients. “If we develop a clinical trial in the future, the application will allow having a cohort of patients well characterized enough”, concludes Lopez de Heredia.

Due to the number of people affected is very low, it is very important to have a database to collect as many cases as possible. One goal of the project is that, ultimately, there is only one international registration of these diseases data to compile the information gathered by the various existing records, which would avoid duplication and inconvenience to patients and physicians.

The researchers who have developed REWBA take also part of the Euro Rare Diabetes Project (, a European project which aims is to create a European database of rare diabetes syndromes to increase knowledge about these diseases and promote translational research. It is funded by the Directorate General for Health & Consumers of the European Commission (DG-SANCO) and it is participated by physicians, researchers and patient groups across Europe. Besides Wolfram, Alström and Bardet-Biedl syndromes, the Euro Rare Diabetes Project includes other rare diabetic syndromes further minority like Wolcott Rallison and thiamine-responsive megaloblastic anaemia with diabetes and deafness. The idea is that REWBA also collect information in the future about these diseases.

The CIBERER, under the Carlos III Health Institute, Ministry of Economy and Competitiveness, coordinates the quality of the research on rare diseases developed in our country. It consists of 60 research groups from 28 institutions in the consortium and it brings together 700 researchers.

The CIBERER objective is to investigate about the causes and mechanisms that cause rare diseases, offer new diagnostic approaches and develop research that offers new treatments for them. The common point is the translation of the findings in the laboratory to the bedside and clinical practice.

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