The research of Jorge Rakela, M.D., is focused on the study of the clinical features and etiopathogenesis of acute liver failure (ALF) of indeterminate etiology, and the establishment of hepatobiliary organoids as a research platform.
Since 2018, Dr. Rakela has evaluated a group of patients with indeterminate ALF who were participants of the Acute Liver Failure Study Group (ALFSG), a National Institutes of Health-sponsored study. In collaboration with the Mayo Clinic Center for Individualized Medicine in Rochester, Minnesota, Dr. Rakela has performed whole-exome sequencing and bioinformatics analysis of the isolated variants of the DNA samples of these participants.
In 26 patients studied thus far, 43 unique variants have been described, four of which have not been described before. Dr. Rakela and colleagues are in the process of analyzing this data toward defining specific metabolic pathways that may be linked to this ALF and provide an insight into the mechanism leading to this clinical condition.
- In collaboration with Mo Ebrahimkhani, M.D., an assistant professor of bioengineering at Arizona State University, Dr. Rakela is exploring a tool to look into induced pluripotent stem cells (iPSCs) obtained from patients with end-stage liver disease and differentiate them into hepatocyte-like cells and compare their cellular functions with iPSCs obtained from healthy individuals.
Significance to patient care
ALF is a rare but devastating disease that affects about 2,000 people a year in the U.S. Recent publications show that around 6% of patients with ALF do not have a well-defined etiology after ruling out hepatitis viruses, drug-induced liver injury and metabolic liver disorders. Dr. Rakela's research findings could allow researchers and providers to better diagnose this disease and provide new therapeutic approaches.