Biomarkers and laboratory precision medicine in hepatology, metabolism, and rare diseases (HEMERA-Lab)
Science is the driving force of progress in human beings and requires a base of honesty, hard work, endeavour, study, constant debate, an open mind and empirical validation
Current research
Problem
Modern healthcare faces critical gaps in managing chronic and rare conditions. For advanced liver cirrhosis, therapies remain largely palliative, with a complete lack of curative treatments to halt or reverse advanced fibrotic stages. Simultaneously, the genomic revolution has created a bottleneck in interpreting variants of uncertain significance (VUS), prolonging the "diagnostic odyssey" for patients with rare genetic and neurodevelopmental disorders. Furthermore, traditional biochemical newborn screening (NBS) models have stagnated, limiting the early detection of treatable inherited metabolic diseases.
Approach
HEMERA-Lab bridges high-complexity laboratory diagnostics with innovative therapeutic research through three highly synergistic axes. In Advanced Therapies and Regenerative Medicine, we develop liver-targeted nanomedicine, including in vivo cell engineering, macrophage reprogramming to resolve fibrosis, and multicatalytic nanoenzymes to modulate oxidative stress. In Precision Medicine and Rare Diseases, we apply multi-omics and artificial intelligence to discover non-invasive biomarkers and functionally validate genetic variants. For Inherited Metabolic Disorders, we pioneer next-generation newborn screening by integrating untargeted metabolomics with genomic sequencing.
Impact
Our strategy structurally transforms the management of laboratory medicine, moving from traditional symptomatic management to a predictive, preventive, and regenerative medicine paradigm. By advancing in vivo therapies in experimental models and cell-targeted nanomedicines, we aim to stimulate functional liver regeneration and reduce the reliance on liver transplantation. In the diagnostic field, implementing genomic newborn screening and second-tier testing reduces false positives, significantly shortens the time to diagnosis for families, and expands screening capabilities to over 300 rare diseases. Additionally, our proprietary nanotherapies and diagnostic algorithms provide a robust foundation for industrial transfer and clinical translation.