Diagnosis and treatment of Dent's disease. Development of an in vivo platform for pre-clinical drug trials and creation of a genetic diagnostic tool based on targeted massive sequencing of whole genes. D&T-DENT

This project offers a comprehensive proposal aimed at addressing the lack of treatment and improving the diagnosis of Dent's Disease, and will be developed around three main objectives:

• Objective 1: To develop a specific diagnostic tool based on targeted massive whole gene sequencing (WGTS) that simultaneously analyzes the two genes that cause Dent Disease, including all coding regions as well as regulatory regions and deep intronic regions.
• Objective 2. To develop a drug screening and assay validation service using the KI Clcn5-Val523del mouse. This model represents the ideal instrument for carrying out the preclinical evaluation of drugs already approved for use in clinical practice (drug repositioning), such as pharmacological chaperones, as well as new molecules that potentially interact with the mutant CIC-5 protein.
• Objective 3. Development of procedures and processes for intellectual property protection and/or patent generation that would allow the transfer of the results of objectives 1 and 2 of basic clinical research to be consolidated, up to their commercialization at a global level.

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ULL Team

• Elena Ramos Trujillo
• Agustín Valenzuela Fernández
• Alexis Oliva Martín
• Félix Claverie Martín
• María Isabel Luis Yanes