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Utility of RNA Sequencing in Rare Disease

Wednesday, June 26, 2024
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

Variants with predicted splicing impacts are a significant portion of VUS in clinical exome and genome cohorts. Literature and unpublished data indicate that the RNA of genes associated with several Mendelian rare diseases is well-expressed in blood, therefore integrating RNA analysis with Exome or Genome is a viable method to enhance their diagnostic yield. Case examples demonstrating the utility of RNA-seq will be presented demonstrating the utility of RNA analysis in resolving the clinical odyssey of patients with rare disease.

Level of Instruction: Intermediate

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Rachid Karam
Rachid Karam, PhD
VP, Research & Development at Ambry Genetics
Dr. Rachid Karam is passionate about bridging cutting-edge technologies to improve patient outcomes, making him an ideal fit for his role as Vice President of Research & Development at Ambry Genetics. In this position, Dr. Karam has spearheaded initiatives to improve the diagnostic yield of DNA tests, including integrating RNA sequencing into clinical genetic testing. […]

Dr. Karam obtained his M.D. in 2003 at UFCSPA in Brazil, and his Ph.D. in Oncogenetics in 2008 at the University of Porto, Portugal. During his Ph.D. he studied the role of the tumor suppressor gene CDH1 in cancer predisposition. He did his postdoctoral fellowship at the University of California San Diego (UCSD) from 2009 to 2014 where he studied the role of the NMD mRNA surveillance pathway in cancer. He joined Ambry Genetics in 2014 and is now Ambry’s Vice President of Research & Development. His work focuses on strategies to improve the positive yield of clinical genetic testing, including the clinical implementation of new technologies such as RNA-seq and Long-Read sequencing. He also actively participates in several ClinGen committees dedicated to creating guidelines for the interpretation of genetic testing results, such as the BRCA1 and BRCA2 Variant Curation Expert Panel (VCEP) and is currently the co-chair of the ClinGen CDH1 VCEP.