Zebrafish Avatars: Towards Diagnosis and personalized Therapies for rare Disease Patients

Between 6,000 and 8,000 different rare diseases affect an estimated 30 million people in the EU. Most of RD debut in childhood and are chronic and
disabling diseases, many of them degenerative, considerably reducing quality and life expectancy. The average estimated time that elapses between the
appearance of the first symptoms and the achievement of the diagnosis is 5 years. In one in five cases, 10 or more years elapse before the correct
diagnosis is achieved. The delay in diagnosis has various consequences: not receiving any support or treatment (40.9%), receiving inadequate treatment
(26.7%) and worsening of the disease (26.8%). Our research group have developed a unit within the University of Murcia and the Murcia Institute for
Biomedical Research (IMIB) led by Drs. Mulero and Cayuela dedicated to the diagnosis and development of personalized therapies for patients with RD
(ZEBER). ZEBER uses a unique model, the zebrafish, which makes it possible to quickly and cheaply identify the pathogenic mutations that cause the
RD and the development of personalized treatments. Zebrafish constitutes an ideal platform to discover the biological
significance of new variants in genes, as well as in the search for orphan drugs by reversing a specific phenotype. This will be illustrated with a patient
with type I interferonopathy caused by a gene encoding a nuclear corepressor.