Diagnostic Utility of RNA-Seq in Neurodevelopmental Disorders
Presented by: Baylor College of Medicine, Undiagnosed Diseases Network (UDN)
Date of Release: December 21, 2020
CME expiration date: December 21, 2023
Estimate time of completion: 1 hour
Course must be completed by the expiration date
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Session Description
Genome-wide testing technologies (including chromosomal microarrays, exome sequencing, and genome sequencing) have provided advances in diagnosis of genetic disorders. This is particularly true for neurodevelopmental disorders, where sometimes nonspecific clinical presentations benefit from the more agnostic testing approach of a genome-wide technology. However, these tests alone do not provide diagnoses for a majority of individuals undergoing the testing. Utilizing three case examples from the Undiagnosed Diseases Network, we demonstrate how incorporation of RNA-seq analysis into the evaluation of individuals with neurodevelopmental disorders and previously nondiagnostic genomic evaluations has enabled the identification of their disease etiologies. RNA-seq can aid in diagnosis through provision of evidence of functional impact of variants identified through other testing technologies or through identification of variants that were unable to be detected by standard testing technologies. Furthermore, through the use of an RNA-seq-directed approach to genomic data analysis, diagnosis may become more efficient by allowing identification of variants with significant impacts on gene expression and/or splicing.
Target Audience
Learning Objectives
At the conclusion of the series, participants should be able to:
Session Learning Objectives
At the conclusion of this session, participants should be able to:
Presenters
David Murdock, MD, FACMG
Assistant Lab Director of CAP/CLIA-certified Human Genome Sequencing Center Clinical Lab Baylor College of Medicine Carlos Bacino, MD, FACMG
Medical Director Cytogenetics Laboratory, Baylor Genetics Laboratories
Vice Chair Clinical Affairs, Department of Molecular and Human Genetics Baylor College of Medicine
Hsiao-Tuan Chao, MD, PhDAssistant Professor of Pediatrics-Neurology, Molecular and Human Genetics, and Neuroscience, Baylor College of Medicine
Jill Mokry, MS, CGCAssistant Professor, Baylor College of Medicine
Financial Disclosures
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NOTE:
Staff - American College of Medical Genetics and GenomicsThe following have nothing to disclose.Jane Radford, MHA, CHCPClaudia BarnettMaximilian Muenke, MD, FACMG
David Murdock, MD, FACMGHas no relevant financial relationships to disclose.Carlos Bacino, MD, FACMGDr. Bacino has disclosed that he receives clinical research support from BioMarin and Ascendis, royalties from UpToDate, and consulting fees from Best Doctors.Hsiao-Tuan Chao, MD, PhDHas no relevant financial relationships to disclose.Jill Mokry, MS, CGCMs. Mokry has disclosed that she receives a salary from Baylor Genetics Laboratories
Educational Credit
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