Genetics Clinical Grand Rounds: "RASopathies at The Level of Ras Activation: A Group of Genetic Disorders with Overlapping Phenotypes and Unique Mechanisms"

Program Goal:

1 Review Rasopathies and variable syndromes caused by deregulation of RAS-MAPK activity at different steps of disruptions.

2 Discuss clinical cases of Rasopathies at the level of Ras activation step caused by disease-causing variants in GTPase such as NF1 or guanine nucleotide exchange factor such as SOS1. 3 Understand the the negative (GAPs) and positive regulators (GEFs) at the step of Ras activation and the corresponding loss-of-activity or gain-of-activity germline variants of these factors in Rasopthies.