Preclinical research on monogenic diseases
We focus on rare neuromuscular dystrophies that are life-threatening disorders caused by mutations in single genes. Such diseases, like Duchenne Muscular Dystrophy, are characterised by increasing muscle deterioration, with loss of walking ability, difficulty to breathe and ultimately heart failure. Our projects bring together multi-disciplinary international groups of experts comprising biotechnologists, physicians, bioinformaticians, neurologists, geneticists and patient organizations, aiming to improve patient life-quality and ultimately cure diseases.
Currently we are focusing on:
- Designing patient representative biological models for testing drug efficacy and safety prior to clinical trials.
Cell Models - Develop specific, sensitive and reliable biomarker tests for diagnostics, and disease progression and treatment outcome monitoring.
Biomarker Development - Explore disease variation by using omics technologies.
Omics Technologies
Group Members
Albert Jiménez Requena
Petter Nhi
Amela Peco
