Genotypes and phenotypes in rare congenital diarrheal diseases

Eating is something that most people take for granted. However, there are children who cannot absorb nutrients from birth due to genetic defects, rendering their intestinal wall non-functional. As a result, they become fully dependent on intravenous nutrition for the rest of their lives. In her doctoral thesis, researcher Yue Sun describes the results of her studies on two of these hereditary diseases: microvillus inclusion disease and the MEDNIK syndrome.Yue Sun gathered all published reports of children with microvillus inclusion disease from the past 40 years. From this data, she discovered for the first time that prenatal intestinal abnormalities and premature birth occurred much more frequently in these children than normal, and that this had a negative impact on the progression of the disease. Her findings offer possibilities for earlier diagnosis and improved prediction of the disease course during the most critical phase of their lives.Additionally, Yue Sun created an animal-free laboratory model for the MEDNIK syndrome by creating mini-intestines from patient-specific stem cells. Through this, she uncovered a new cellular disease mechanism and identified a potential target for therapeutic intervention.

Dissertation: https://hdl.handle.net/11370/292519e5-ff8e-43ac-8930-a2a6559d54aa