Wikrom Karnsakul, director of the pediatric liver center at Johns Hopkins Children’s Center, discusses his latest collaborative research on cholestatic liver disease among pediatric patients.
My name is Dr Vikram Kanso. I'm the Director of pediatric Liver Center from uh Johns Hopkins. My research study is to explore genotype phenotype correlation of a variant of unknown significance from a genetic cholestasis panel. The study is being done uh in population uh in units, young infants, young Children and adolescents that had cholestatic liver disease, cholestatic liver disease is a complex disorder is require extensive investigations. And one of the tests that we often do include genetic tests because one of the causes of cholestasis in young infant and Children is metabolic and genetic disease. The panel that we use is developed uh five years and has been done about 10,000 patients. About 20% of the panel came back normal, up to 70% came back with variants of unknown significance of us. And this creates a dilemma and problem because we don't really know what it means. That's why we wanted to conduct this study and involve many sites uh from other centers to uh get the information for analysis. The aim is to understand whether thus or variant of unknown significance would lead to acute chronic liver disease or they may have liver transplantation or maybe death. So this uh require uh collaboration. And one of the person that helped to start this project is Dr Brett Hoskin, who used to be our fellow. Now become an attending at Indiana University is the site that now helping to recruit uh the participant. Uh For this study. We have nine other sites across the country and we intend to include as many as center that uh could help to participate uh this study. So then we will have uh data to analysis that is more meaningful. An example of cases that we uh found that they uh v uh that could explain that presentation. We just had a 15 year old that presented uh himself first time uh of the blue with G I bleeding or vital bleeding. That's when we knew that he already had cirrhosis and he never knew that he had liver disease before. And we did this genetic cholest this panel that found that he had two of us of one gene that known to cause liver disease. So we were able to convince uh confirmed diagnosis and that he had liver transplantation at the end. And now is doing well. I would like to thank the collaborators, particularly Dr Brett Hoskins that helped this project from the beginning and carry on the project with us and Johns Hopkins. Thank you.
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