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James E. Heubi, MDProfessor, Associate Chair for Clinical Investigation of PediatricsAssociate Dean for Clinical & Translational Research Co-Director Center for Clinical & Translational Science & TrainingDepartment of Pediatrics; Division of Gastroenterology, Hepatology, & Nutrition
Dr. Heubi actively pursues a variety of patient-oriented projects related to liver disease and nutrition. He is investigating the pathogenesis of inborn errors of bile acid metabolism, including peroxisomal disorders. As new defects have been identified, he actively investigated the development of specific therapies directed toward the underlying abnormalities. He is participating in the Childhood Liver Disease Research and Education Network (ChiLDREN) funded by NIH to study rare cholestatic liver diseases. Dr. Heubi is exploring the role of intraluminal contents, such as the composition of bile acids and phospholipid content, on cholesterol absorption and synthetic rate in adults utilizing stable isotope technology. He is investigating the epigenetic influence of early cholesterol exposure through breast milk on long-term cholesterol absorption/metabolism. He is also studying the effect of a non-absorbable lipid, olestra, as a vehicle to mobilize toxic polychlorinated biphenyls (PBCs) from adults with industrial exposure and examining the dose response to pancreatic enzyme supplements in infants with cystic fibrosis diagnosed by newborn screening. In addition to Dr. Heubi’s research program, he is the Co-Director of the Center for Clinical and Translational Science and Training.
Dr. Heubi collaborates with Drs. Bezerra and Meithke in studies of children with chronic liver disease as part of the NIH-funded ChiLDREN network. He also works with Drs. Hui and Tso investigating bile acid composition and cholesterol absorption, and with Dr. Woollett studying the regulation of bile acid synthesis. Projection of Core use: Gene and Protein Expression, Bioinformatics, and Integrative Morphology Cores.
Click image to enlarge
Left Panel: Effect with oral cholic acid (CA) therapy on liver function test results in children with 3b-HSD and reductase deficiency. Right Panel: Sirius red stain of liver biopsies. (A) Patient with 3b-HSD deficiency at onset of CA therapy and (B) after 7 yrs of CA therapy. Patient with reductase deficiency after 14 months of combined UDCA plus CA therapy (C) and (D) after 5.5 years of CA therapy. Magnification 30x. Figure from Gastroenterology, 2009;137:1310-1320.
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