Research into DICER1 syndrome is taking a major step forward in Europe with the creation of DICER1 Europe, the first patient and family group dedicated to this rare hereditary disease, which currently accounts for only 2,009 documented cases worldwide. The new organization was established to connect affected families, improve access to specialized information, and actively contribute to research on the tumors associated with this syndrome.
One of the initiative’s distinguishing features is its close collaboration with the research team led by Bárbara Rivera, the Rare Tumors Lab at the Bellvitge Biomedical Research Institute (IDIBELL), which has emerged as one of Europe’s leading groups in the study of DICER1 syndrome and other rare hereditary cancer predisposition syndromes.
The initiative is driven by families affected by the syndrome, including that of Carlos Morillo, coordinator of DICER1 Europe and father of a patient, who has spent years raising awareness of the condition and promoting new research opportunities. With the launch of DICER1 Europe, this commitment is now becoming a stable structure that will strengthen connections among patients, healthcare professionals, and researchers. “We decided to organize ourselves so that no family has to face this alone, and so that all affected families can connect with others who have gone through similar experiences. Being in direct contact with specialists who truly understand this condition, such as Bárbara’s team, makes a real difference for us,” says Morillo.
A very rare syndrome associated with exceptionally rare tumors
DICER1 syndrome is a rare hereditary disorder caused by mutations in the DICER1 gene. Individuals carrying these mutations have an increased risk of developing several types of tumors, some of which are extraordinarily uncommon in the general population and, in some cases, are found almost exclusively in people with DICER1 mutations. These tumors may affect organs such as the lungs, thyroid, brain, or reproductive system.
Fortunately, most of these tumors are benign, and it is estimated that more than half of affected individuals will never develop medical complications throughout their lifetime. However, the rarity of these tumors, combined with the geographical dispersion of cases, makes DICER1 syndrome a major research challenge. As with many rare diseases, the limited availability of patient data remains one of the main obstacles to expanding scientific knowledge and providing answers to patients and families.
This highlights the importance of creating international networks of patients and professionals such as the one now taking shape. Addressing this challenge is already one of the association’s main priorities: promoting the creation of a European patient registry, which will be essential for identifying new cases, improving clinical follow-up, and enabling future multicenter research studies.
A European hub of expertise on DICER1, led by IDIBELL
For Dr. Rivera’s team, this new collaboration represents a unique opportunity to strengthen a research line that has become one of the most robust in Europe in this field. Since 2020, the group has made significant contributions to the study of the syndrome and the genetic characterization of associated tumors, leading seven pioneering competitive research projects, including four focused exclusively on DICER1 syndrome and three dedicated to DICER1-related ovarian tumors. The team has also supervised two doctoral theses on DICER1 and produced around twenty scientific publications aimed at understanding the molecular mechanisms underlying the syndrome.
The collaboration is part of REMMA Bellvitge, IDIBELL’s research program devoted to rare diseases within the Bellvitge Health Campus. By integrating clinical care, genetic diagnosis, and specialized research, REMMA focuses on conditions that require particular attention precisely because of their rarity. Bárbara Rivera’s Rare Tumors Lab exemplifies this approach, with a recognized track record in the molecular study of tumors associated with these syndromes and in advancing knowledge of extremely rare hereditary disorders.
The partnership with DICER1 Europe further strengthens this commitment and positions IDIBELL as one of the leading European research centers helping to build an international network of knowledge around DICER1 syndrome.
From research support to social mobilization
The launch of DICER1 Europe comes only days after a new demonstration of families’ commitment to research. Last weekend, the Sosciathlon Solidarity Association brought together nearly 1,900 participants and raised more than €40,000, part of which will support research projects on DICER1-associated tumors conducted by Bárbara Rivera’s team at IDIBELL.
This public support, together with the creation of DICER1 Europe, strengthens an alliance between patients, civil society, and researchers that aims to accelerate progress in understanding the disease and ultimately improve the quality of life of affected individuals.
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).