The problem
Advanced cirrhosis has no curative therapy, and genomic data outpace our ability to interpret it.
Advanced liver cirrhosis still has no curative therapy able to halt or reverse late fibrotic stages. In parallel, the genomic revolution has created a bottleneck in interpreting variants of uncertain significance, prolonging the diagnostic odyssey of patients with rare and neurodevelopmental disorders, while classical biochemical newborn screening has plateaued and misses treatable inherited metabolic diseases.