Genetics Clinical Grand Rounds: "When Genetics Is The Answer: Improving the diagnosis and management of rare pediatric diseases"

Program Objective(s):

1 Emphasize the importance of combining genetic testing with clinical investigations to achieve accurate disease diagnosis, management, and genetic counseling.

2 Illustrate the effectiveness of exome sequencing as an efficient approach in identifying the underlying molecular etiology and exploring genotype-phenotype correlations

3 Recognize the significance of testing family members to identify potential disease-causing variants.