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Cell Biology and Disease Mechanisms

Cell Biology of Genetic Diseases

Applying the approaches of cell biology to our research is important for understanding the underlying cellular dysfunctions causing gene disease phenotypes and thus to reconstruct the mechanisms which begin with a genetic defect. The overall aim of the Cell Biology and Disease Mechanisms (CBDM) program is to understand disease mechanisms by looking at cellular organization at the morpho-functional level, how different cell types accomplish their individual tasks, how these different cells cooperate to form tissues and systems and how mutations in disease genes alter these functions. The final objective is to provide improved management of genetic diseases and therapeutic tools. Techniques used in the the CBDM program include, but are not limited to, genetic analysis, protein and lipid biochemistry, developmental biology, yeast cell biology, and molecular pharmacology. We use these techniques to study trafficking and sorting of proteins and lipids, organelle biogenesis and regulation and signal transduction.