Genetics Clinical Grand Rounds: "Understanding Disorders of Ubiquitylation Using Forward and Reverse Genetics”

NEEDS ASSESSMENT

Using combined reverse and forward genetics to increase genetic diagnosis rate

LEARNING OBJECTIVES
1.To define forward and reverse genetic approaches toprovide genetics diagnoses and uncover molecular pathways

2.To learn about the essential post-translational modifierubiquitin.

3.To understand the implications of disruptions of theubiquitylation system for human development will be discussed in the context of multiple congenital anomalies caused by mutations in enzymes regulating ubiquitylation.