Utility of RNA Sequencing in Rare Disease with Rachid Karam, MD, PhD

• 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 Literature and unpublished data indicate that the RNA of genes associated with several Mendelian rare diseases is well-expressed in blood, therefore integrating RNA analysis with Exome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

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Rachid Karam, MD, PhD | Presenter

VP, Research & Development at Ambry Genetics

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.

Victoria Suslovitch, MS, CGC | Moderator

Genomic Science Liaison for the Rare Disease, Neurology, and Cardiology group with Ambry Genetics

Victoria joined Ambry Genetics in 2023 as a Genomic Science Liaison for the Rare Disease team. In her role, she educates healthcare providers about genetic testing and genomic medicine, and aims to advance access, equity, and quality of genetics services. Prior to joining Ambry, Victoria was a research genetic counselor at Boston Children's Hospital, for a study that develops genomically targeted therapies for children with rare neurological diseases. She received her Master of Science in Genetic Counseling degree from Boston University, and is certified by the American Board of Genetic Counseling.