Internal Medicine
333 Cedar Street
Room LMP-1072
P.O. Box 208056
New Haven, CT 06520-8056

Section of Digestive Diseases
more on this physician
Liver disease: cirrhosis, transplant hepatology, metabolic liver diseases, and benign and malignant neoplasms of the liver.
Clinical and translational research on Gaucher Disease, the most common lysosomal storage disorder.
I am investigating the phenotypic variability and pathophysiology of Gaucher disease. Gaucher disease is the most common lysosomal storage disorder. The defect is an autosomal recessive deficiency of lysosomal glucocerebrosidase that results in accumulation of glucocerebroside in the lysosomes of tissue macrophages triggering chronic inflammation and a complex multi-systemic phenotype. I work with Dr. Pramod Mistry, MD, PhD, a leading expert in lysosomal storage disorders and director of the Yale Gaucher Center. Through careful phenotypic ascertainment, we have observed that patients with Gaucher disease are six times more likely to form cholesterol gallstones. My investigation focuses upon the hypothesis that there is an alternative pathway for the secretion of the accumulated substrate in bile – a pathway that may have important therapeutic implications. I am studying the risk factors for cholelithiasis in the Yale Gaucher Center cohort and investigating human lipid, lipoprotein, and bile composition disturbances in Gaucher disease. This work will be recapitulated in a mouse model through which I hope to gain an understanding of the pathophysiological mechanisms of this proposed pathway.
Campus Address
Department of Internal Medicine
333 Cedar Street (LMP 1080)
New Haven, CT 06520
E-mail
tamar.taddei@yale.edu
Office Phone
(203) 737-6060