Fisabio and the Universitat Jaume I in Castelló seek collaboration to research Smith-Lemli-Opitz syndrome (SLOS)



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## Fisabio and the Universitat Jaume I in Castelló seek collaboration to research Smith-Lemli-Opitz syndrome (SLOS)

22/05/2025 |
SCP

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* [![Biomedical research fisabio-uji-SLOS investigacio_biomedica](/com/investigacio/arxiu/noticies/2025/5/fisabio-uji-SLOS/investigacio_biomedica.jpg)](#)

The Rare Diseases Area of the Fisabio Foundation and the Biotransfer research group at the Universitat Jaume I in Castelló are carrying out an innovative project to identify and validate new markers that could open the door to the development of selective diagnostic tools and new therapeutic targets for Smith-Lemli-Opitz syndrome (SLOS), a rare pediatric and hereditary disease.

As part of this study, the team is looking for volunteers to provide blood and saliva samples for a comparative analysis that will help to better understand the disease.

This project is seeking the collaboration of adults and minors diagnosed with SLOS and healthy individuals for a comparative study with those affected. In addition, the collaboration of healthcare professionals (pediatricians, neurologists, geneticists, and other specialists) and researchers involved in the diagnosis, treatment, or follow-up of people with SLOS is sought to help disseminate the study and participate in it by creating a bridge of contact between affected individuals and the research team.

The samples will be managed by the Biobank for Biomedical and Public Health Research of the Valencian Community (IBSP-CV) at Fisabio. Donations can be made at any health centre or hospital of the Regional Ministry of Health by appointment with the Biobank. To contact the IBSP-CV, please call 961925979 or send an email to [donantes@fisabio.es](http://donantes@fisabio.es).

The project "Study of circulating blood markers for the search for diagnostic and therapeutic solutions in Smith-Lemli-Opitz syndrome", led by Clara Cavero Carbonell of Fisabio and Javier Santos Burgos Muñoz of the UJI, has been approved by the ethics committees of both institutions (CEI-SP 20250228/05/P and CEISH/114/2024), as it complies with the ethical principles for medical research in humans, as well as those required by Spanish and European regulations on biomedical research, personal data protection, and patient rights.

**Smith-Lemli-Opitz syndrome (SLOS)**

SLOS, which affects less than 1 in 20,000 births, is a disorder related to a congenital error, characterized by intellectual disability, brain and other organ abnormalities, and a limited life expectancy in underage patients.

This disease, like other rare diseases, represents a significant challenge to public health due to its negative impact on the quality of life of those affected, its chronic nature, the disabilities it causes, and the high economic and emotional burden it places on families in particular.

The participation of volunteers is essential for advancing research into SLOS and developing more effective diagnostic and treatment tools for affected patients. For more information, please email us at: [enfermedades.raras@fisabio.es](mailto:enfermedades.raras@fisabio.es).

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