MolPath-RD
Molecular Pathology of Rare Diseases
Research lines
- Molecular basis and clinical characterization of familial lipodystrophies
- Biochemical analysis and characterization of post-translational modifications in proteins involved in physiopathology
- Neurodegenerative process associated to BSCL2 variants.
- Etiopathogenic bases, physiopathological mechanisms and therapeutical principles of the metabolic syndrome
- Use of artificial intelligence as an aid to the diagnosis of lipodystrophies.