We integrate advanced genetic diagnosis for ophthalmic diseases from the CDB-Hospital Clínic Barcelona
The collaboration advances precision genetic diagnostics to deliver more personalized patient care.
Miranza has signed a service agreement with the Biomedical Diagnostic Center (CDB) at Hospital Clínic Barcelona to provide genetic diagnosis for inherited ophthalmic diseases, including retinal dystrophies, optic neuropathies, congenital anomalies, and complex syndromic conditions.
Through this initiative, patients treated at Miranza centers will gain access to state-of-the-art genomic technologies and highly specialized molecular genetics teams to identify the genetic causes underlying these conditions.
The agreement includes the issuance of clinical reports by the Molecular Genetics Section (Department of Biochemistry and Molecular Genetics), led by Dr. Celia Badenas, as well as expert support for Miranza professionals in the interpretation of genetic test results. Together with the genetic counseling services provided by the genetics laboratory at IMO Grupo Miranza Barcelona, this collaboration will enable a more comprehensive and personalized service for patients.
Genomic technology and diagnostic expertise for better patient care
The tests included under the agreement are based on advanced genetic analysis methodologies such as Next-Generation Sequencing (NGS), which enables the simultaneous analysis of thousands of disease-associated genes. The primary approach consists of whole-exome sequencing, followed by the analysis of genes associated with the patient’s clinical presentation to identify disease-causing genetic variants.
This strategy enables the diagnosis of a broad range of inherited ophthalmic disorders, including retinal and corneal dystrophies, congenital cataracts, hereditary glaucoma, optic atrophy, and high myopia. Family studies are also available to confirm diagnoses, establish inheritance patterns, and guide both clinical follow-up and genetic counseling.
The testing also includes the analysis of structural DNA alterations, such as deletions and duplications. Together, these technologies provide a comprehensive and personalized genetic assessment tailored to each patient and their family.
David Castro, Director of Research, Development and Innovation (R&D&I) at Miranza, explains: “This agreement with the CDB at Hospital Clínic Barcelona represents an important step in strengthening our commitment to innovation in ophthalmology. Integrating genetic diagnosis into clinical practice allows us to move towards precision medicine, identify the underlying causes of many inherited diseases at an earlier stage, and provide patients with more personalized therapeutic strategies”.
Advancing towards more personalized ophthalmology
Access to the expertise and services of the Biomedical Diagnostic Center at Hospital Clínic Barcelona will enable the integration of clinical experience, diagnostic capabilities, and specialized genetic knowledge into ophthalmic care. The agreement will contribute to improving the diagnosis and management of inherited ophthalmic diseases while advancing a more personalized approach to medicine based on genetic evidence and multidisciplinary patient care.