Bellvitge Hospital and IDIBELL have contributed to expanding knowledge about a progressive myoclonal epilepsy, a rare, severe neurological disease with disabling evolution, through an international study published in the journal Frontiers in Genetics. The study describes a new genetic variant so far unidentified and exemplifies how advanced genetic diagnosis can be key to improving the clinical approach and opening new lines of research in this type of pathology.
Progressive myoclonal epilepsies are rare diseases, often of complex and late diagnosis, with very limited therapeutic options. In this context, precision medicine becomes key to better understand the origin of the disease and guide the care of the affected people.
A new genetic variant associated with a minority disease
The study is based on the case of a person treated at Bellvitge Hospital with a progressive myoclonal epilepsy associated with the NUS1 gene, involved in essential cellular processes related to the functioning of lysosomes. Through a complex and specialized genetic study (an exome aimed at the clinical characteristics of the patient), the team identified a variant so far not described in this gene, thus contributing to expand international knowledge about this minority disease.
These types of discoveries are especially relevant in rare diseases, where each well-characterized new case helps build a knowledge base that can benefit future diagnosed people. In addition, the team reviewed all cases of patients with myoclonal epilepsy who carry variants in the NUS1 gene published in the literature, facilitating a better understanding of both the genetic diversity and clinical presentation of these patients.
A multidisciplinary approach at the service of personalized medicine
“In rare diseases, reaching a precise genetic diagnosis can mark a before and after. It does not always involve an immediate change in treatment, but it does allow us to understand the origin of the disease, better guide clinical follow-up and give answers to the affected people and their families”, explains Cristina Sau, genetic advisor at Bellvitge Hospital and first author of the study.
The case highlights the importance of a comprehensive and multidisciplinary approach, one of the distinctive features of care at Bellvitge Hospital. Professionals from the Clinical Genetics Unit and the Neurology and Psychiatry services have participated in the diagnostic and care process, as well as researchers from the Neurological and neurogenetic diseases group at IDIBELL, integrating the clinical, genetic and functional assessment of the person.
Achieving a precise genetic diagnosis not only allows us to better understand the disease, but also to guide clinical follow-up, adjust therapeutic decisions and avoid unnecessary tests, providing clarity to both the affected people and their families.
An exploratory observation that opens research hypotheses
The study also describes, in an exploratory way, the use of metformin – a drug widely used in the treatment of diabetes – as a possible modulator of some symptoms associated with the disease. In this specific case, the treatment was associated with an improvement in severe psychiatric symptoms, although it did not modify the evolution of epileptic seizures.
Guillermo Hernández, neurologist at the Epilepsy Unit at Bellvitge Hospital, explains that “it is not an established or generalizable treatment, but this observation provides new research hypotheses on the role of cell metabolism and lysosomal function in this type of pathology, opening possible future lines of study”.
Bellvitge, a benchmark in rare diseases and translational research
This work reinforces the role of Bellvitge Hospital as a reference center in the care of rare diseases, with a clear commitment to translational research carried out at IDIBELL, which directly connects healthcare practice with the generation of scientific knowledge.
The combination of advanced genetic diagnosis, specialized clinical approach and participation in international research networks allows the Bellvitge Health Campus to actively contribute to improving the knowledge and care of rare diseases, often with a high impact on the quality of life of the people who suffer them.
The Bellvitge Biomedical Research Institute (IDIBELL) is a research center created in 2004 and specialized in cancer, neuroscience, translational medicine and regenerative medicine. It has 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 centres 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 is an Accredited Center of the AECC Scientific Foundation (FCAECC).