The Bellvitge Biomedical Research Institute (IDIBELL) has presented the REMMA Bellvitge cross-sectional research program, a strategic initiative that consolidates and strengthens expertise in research, care, and teaching in adult rare diseases at the Bellvitge Health Campus, with the patient always at the center and towards precision medicine.
Minority diseases are those that affect less than 1 person between 2,000: they are very rare, understudied, and many have no treatment. However, there are more than 7,000 of them, and together they affect millions of inhabitants. They have been declared a health priority both globally and nationally.
In recent years, adult rare diseases have gained relevance thanks to medical diagnostic and therapeutic advances. In addition, genetic globalization, understood as the mixture of genetic populations with less probability of consanguinity or sharing genetic traits between progenitors, has given rise to more variable clinical spectra and a higher frequency of onset in adulthood. In Dr. Maria Molina’s words, scientific director of IDIBELL, “the inheritance of genetic diseases in heterozygosis is most frequently identified, that is, the copy of a correct gene and the other mutated copy, as well as genetic diseases with incomplete penetrance and variable expression”. This can cause the inherited disease to debut with less clear symptoms and in adulthood, with variability even within the same family, hindering diagnosis and genetic counseling. For Dr. Molina, it is decisive “to improve diagnosis and rapid access to new treatments that can modify the course of the disease”.
On average, a patient with a minority disease can wait 6 years of medical visits to receive a diagnosis. During this time, the disease keeps aggravating and uncertainty and misunderstanding increase. Research is the only way to respond to this problem. “Identifying biomarkers, optimizing multidisciplinary diagnostic processes and incorporating less invasive innovative techniques are essential methodologies in its approach”, concludes Molina.
REMMA Bellvitge: opening the way for adult rare diseases
The REMMA Bellvitge programme is born to promote translational research in rare adult diseases, taking advantage of the clinical and research excellence of the professionals of the Bellvitge Health Campus, a cross-cuttingly interconnected multidisciplinary environment that puts the patient at the centre. This pioneering programme in Spain will catalyze research in more than 390 rare diseases in adults, for many of which it is already a national and international reference. These include neurological, muscular, respiratory, cardiovascular, metabolic, ophthalmological, systemic and rheumatological, nephrological, digestive and biliopancreatic diseases, as well as hereditary oncology, among others.
As detailed by Dr. Antoni Riera Mestre, physician and researcher at IDIBELL and Bellvitge Hospital and coordinator of the REMMA program, “the REMMA program aims to find synergies between the different IDIBELL groups that carry out translational research on the Campus in adult rare diseases, to advance faster and reach further, making our results directly impact on the benefit of patients with rare diseases and their families”. The results obtained will be applicable to patients from other countries and will influence international clinical guidelines thanks to the excellence of research and participation in international networks.
The new program has 46 main researchers integrated into 23 IDIBELL research groups, in addition to the participation of more than 200 professionals from the Campus specialized in nutrition, rehabilitation and physiotherapy, psychology, genetics and genomics, pharmacology and clinical pharmacy. All of them will collaborate in interprofessional teams to create synergies and advance research and comprehensive approach to these pathologies.
Basic and clinical research on the same Campus: the key to shortening the time to diagnosis and finding new treatments
One of the major problems faced by patients with rare diseases is diagnostic delay. In addition, a specific treatment has not yet been developed on many occasions. Only translational research, which connects basic and clinical research, can accelerate the process of detection, diagnosis and therapeutic approach, significantly reducing these times and improving the quality of life of patients. In this sense, the Bellvitge Health Campus offers a unique ecosystem as it combines the research promoted by IDIBELL, the assistance of the tertiary hospital with the largest reference population in Catalonia – Bellvitge University Hospital-, the only monographic cancer center in the state – the Catalan Institute of Oncology-, the Faculty of Health Sciences of the UB and primary care teams. This integration accelerates the transfer of scientific knowledge to clinical practice, rapidly translating scientific production into answers for patients.
In this sense, REMMA Bellvitge is already promoting more than 50 clinical and preclinical trials in rare diseases that offer patients access to the latest therapeutic novelties and contribute to the development of new drugs, including advanced therapies.
From Bellvitge to Catalonia: territorial equity and the patient at the centre
The Bellvitge Health Campus covers 2.1 million inhabitants of the southern metropolitan area, Terres de l’Ebre and Tarragona, becoming the health ecosystem that serves the most population and more territory in Catalonia. This is a key fact in research and addressing adult rare diseases as it gives access to a sufficient number of patients to conduct quality research and quickly translates it into real medical solutions.
This dimension also guarantees territorial equity in access to specialized care. To avoid unnecessary visits and trips, especially expensive for these patients who suffer from disabling diseases, the teams work in an interprofessional and coordinated manner so that the patient can be assessed globally in a single visit. After making the medical assessment, Bellvitge medical professionals and researchers lead the follow-up of the patient in contact with regional health centers while translating the results obtained into scientific advances that will allow progress towards a better diagnosis and treatment of the disease. This circuit also integrates patients from other autonomous communities with whom they connect thanks to research and hospital networks. This organizational model reinforces comprehensive, efficient, and person-centred care.
Alliances and rapid transmission of knowledge
REMMA Bellvitge works together with private entities, foundations and patient associations involved in research into minority diseases, promoting joint actions in research, training, and dissemination.
In addition, many of the healthcare professionals and researchers on the Campus are also teachers at the Faculty of Health Sciences of the University of Barcelona, which guarantees an immediate transfer of knowledge in adult rare diseases to the new generations of health professionals and researchers.
The Bellvitge Biomedical Research Institute (IDIBELL) is a research center established in 2004 specialized in cancer, neuroscience, translational medicine, and regenerative medicine. It counts on a team of more than 1.500 professionals who, from 73 research groups, publish more than 1.400 scientific articles per year. IDIBELL is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona, and the City Council of L’Hospitalet de Llobregat.
IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).