Dr Ricardo Moreno Traspas

The title of his thesis is “Loss of FOCAD, operating in the SKI mRNA surveillance pathway, is responsible for a syndromic form of pediatric liver cirrhosis”. End-stage liver diseases are increasingly becoming a major health and economic burden to society, with no effective drugs or therapies to combat these pathologies to this date. Liver cirrhosis is traditionally believed to be caused by environmental insults such as poor diet, viral hepatitis or alcohol abuse. Nevertheless, little has been done to explore the existence of possible underlying genetic causes.

Though his research using Mendelian genetics, Dr Traspas pinpointed a cause for paediatric liver cirrhosis to mutations in a rarely studied gene called FOCAD. Using the state-of-the-art CRISPR/Cas9 technology, he generated zebrafish lacking the FOCAD gene which phenocopied the human disease, revealing a signature of altered mRNA degradation processes in the liver. Using patient-derived primary cultures and FOCAD inactivation in human hepatic cell lines, Dr Traspas discovered that FOCAD deficiency compromises the SKI mRNA surveillance pathway, a molecular quality control mechanism that assists the translation of mRNAs into proteins by destroying transcripts that are faulty.

Currently, Dr Traspas is a Scientist in the start-up Altos Labs (San Diego, California, USA). This new biotech company gathers a community of renowned scientists, clinicians and leaders from both academia and the biomedical industry with the common mission of reversing disease and injury. Dr Traspas’s work focuses on using cellular rejuvenation programming techniques to restore liver health and resilience. He is motivated to use his biomedical expertise gained during his academic training to develop ground-breaking therapeutic approaches for diseases with unmet medical needs.