Yale Clinical Grand Rounds 4/11/23 | Dr. Bilal Azab | When Genetics Is The Answer: Improving the...

Yale Clinical Grand Rounds 4/11/23 | Dr. Bilal Azab | When Genetics Is The Answer: Improving the diagnosis and management of rare pediatric diseases"
This talk will focus on families with pediatric conditions such as gastrointestinal, cardiac, ophthalmic, and hearing loss. The following objectives will be covered:
(i) Emphasize the importance of combining genetic testing with clinical investigations to achieve accurate disease diagnosis, management, and genetic counseling.
(ii) Illustrate the effectiveness of exome sequencing as an efficient approach in identifying the underlying molecular etiology and exploring genotype-phenotype correlations.
(iii) Recognize the significance of testing family members to identify potential disease-causing variants.
By the end of this talk, attendees will have a better understanding of the role of genetic testing and sequencing in the diagnosis and management of pediatric conditions, as well as the importance of involving family members in the testing process