INCLIVA Leads the Study of Rare Diseases by Repeat Expansion

The INCLIVA Health Research Institute, of the University Clinical Hospital of Valencia, recently held the first edition of TERRETA (Treatments and Rare Diseases: Advanced Therapeutic Strategies ), an event dedicated to rare diseases caused by genetic repeat expansions.

The INCLIVA forum brought together researchers, clinicians and patients with the aim of advancing knowledge and therapeutic strategies for these hereditary and progressive pathologies.

Rare Diseases due to repeat expansion

Rare repeat expansion diseases are neurogenetic disorders caused by unstable repetitive DNA sequences. Depending on the size of the repeat, they can manifest with various phenotypes, with longer repeats being responsible for more severe and early-onset diseases. These pathologies include Friedreich’s ataxia, Huntington’s disease and myotonic dystrophy , all of which have a severe impact on patients’ quality of life.

TERRETA is a product of INCLIVA’s Transversal Rare Diseases Program and is supported by the Biomedical Research Network Center for Rare Diseases (CIBERER) of the Carlos III Health Institute . Its purpose is to promote the development of innovative treatments and encourage research into these pathologies, which affect a small percentage of the population but require a multidisciplinary approach for their management.

INCLIVA: Research and therapeutic strategies

The day was structured in two main blocks. During the morning, senior researchers and young scientists presented their advances in an academic exchange forum. Pilar González Cabo, coordinator of the INCLIVA Rare Diseases Program and professor at the University of Valencia, highlighted the importance of events such as TERRETA to generate synergies between researchers and clinicians.

Experts such as Rubén Artero, who presented his research on the use of antimiRs in myotonic dystrophy , Rafael Vázquez , who addressed the development of animal models for clinical trials in Huntington’s disease, and Patricia Rico, who presented the therapeutic effects of alginate hydrogels in muscle atrophy, participated in this block.

At the ‘TERRETA Jove’ session , emerging researchers such as Aleixandre Llorens and Arturo López presented therapeutic innovations in Friedreich’s Ataxia and CANVAS syndrome. The event also included presentations on new biomarkers, genetic modulation and therapeutic strategies to improve the quality of life of patients.

Dialogue with patients at INCLIVA

The afternoon session, ‘TERRETA Patients,’ focused on the experiences and needs of those affected by rare diseases. One of the round tables, entitled ‘Making the invisible visible’, addressed the importance of scientific communication, the role of patient associations and personal testimony as a tool for social awareness.

Moderated by Ana Pilar Gómez, the panel included the participation of Miquel Calvet, a journalist specializing in scientific dissemination; Ingrid Mendes , coordinator of CIBERER; Luis Aguilar, author of the book ‘Chronicle of a Luck Announced’, who shared his experience as a family member of a patient; and Belén Hueso , president of ASVAH and author of ‘The Muscles of Smile’, who recounted how she faces the challenges of her illness without losing her optimism.

Another round table at INCLIVA, ‘Biobanks and citizen participation’, moderated by Federico Pallardó, addressed the importance of donating biological samples for research. Carmen Aguado, Belén Mollá and Lorena Peiró explained the role of biobanks in the development of new therapies and the relevance of collaboration between citizens and scientists.

INCLIVA promotes Inclusive research

TERRETA is part of the CONECTA INCLIVA initiative, which seeks to bring research closer to society and promote more inclusive science. Since its creation in 2020, this platform has promoted citizen participation in all phases of responsible research and innovation.

The event highlighted the need to integrate the patient perspective into research and the design of therapeutic strategies.

The event highlighted the need to integrate the patient perspective into research and the design of therapeutic strategies, strengthening collaboration between research centres, healthcare institutions and the affected community. The consolidation of TERRETA as an annual event will allow for continued progress in the knowledge and treatment of rare diseases, an area in which translational research is key to improving the prognosis and quality of life of patients.

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(Featured image by Sangharsh Lohakare via Unsplash)

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First published in Gaceta Medica. A third-party contributor translated and adapted the article from the original. In case of discrepancy, the original will prevail.

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