A multidisciplinary research team composed of faculty of Department of Biochemistry and Molecular Biology, Pediatrics and Genetics of the Universitat de València, will study the syndrome Idic15 that a Valencian girl suffers from. The study will be carried out thanks to the donation of 123,000 euros by the campaign www.unacasaunavida.es. The host Javier Cárdenas encourages this campaign in which a house was sold in auction to donate the money for this cause.
The research will focus on the search for molecular and cellular biomarkers related to the evolution of the rare disease known as Idic15. In this syndrome, with a nonspecific symptomatology and a high clinical variability, the diagnosis should arrive late, when the alterations in the neurodevelopment are evident and irreversible. Maturation retardation, learning difficulties, autist spectrum disorder, pervasive development disorder, convulsions and epilepsies are frequent in patients with Idic15. For this reason, they require for life behavioural and social integration therapies and symptomatic drug treatments.
Until now, researches about Idic15 are scarce and focus on clinical aspects, while the biochemical and metabolic characteristics are practically unexplored. The research team has claimed that the identification of molecular and cellular biomarkers for this disease would be an extremely useful tool for the early diagnosis, the prognosis of the disease and its complications -such as the risk of sudden death- and the orientation of the pharmacological and nutrition therapy. Therefore, the aim of this research is, according to the researchers, assess the existence of those biomarkers by a multidisciplinary approach, based on new technologies to obtain a systemic metabolic, molecular and cellular ‘radiograph’ of the Spanish patients affected by Idic15.
The research team who has collaborated on the project is composed of Eulalia Alonso Iglesias and José Enrique O’Connor Blasco, members of the Department of Biochemistry and Molecular Biology; Pilar Codoñer-Franch, member of the Department of Pediatrics, Obstetrics and Gynaecology; and Miguel Ángel García-Pérez, member of the Department of Genetics, in the Faculty of Medicine and Dentistry of the Universitat. This is a multidisciplinary team with members who share their outstanding expertise in different disciplines and analytical techniques. Miguel Ángel Orquín, graduate in Medicine by the Universitat de València and father of a child with this disease, also participates in this project. Orquín began studying Medicine at the age of 36 with the aim of training himself to advance knowledge about the syndrome Idic15.
He is a member of the Association Idic15 which also collaborates in this initiative. Nowadays, the Association has about 50 Spanish patients, between the ages of 2 and 20. These patients could also take part in this research.
The host Javier Cárdenas has contributed by media in the collection of money needed to go ahead with this project. He has spread the case of the daughter of Miguel Ángel Orquín and displayed this disease. Cárdenas raffled his second house to contribute to collect enough funds for the first part of the research.