Genome Board

Occurs weekly every Friday starting on 2/19/2021 at 11:00 AM
Friday, February 19, 2021, 11:00 AM - 12:00 PM, online, Indianapolis, IN


Recently we developed an Undiagnosed Rare Disease Clinic (URDC) which evaluates patients who have a high suspicion of genetic disorders that have not been diagnosed with currently available clinical genetic testing. Patients are seen in clinic and the medical geneticist and genetic counselor conduct a detailed review the patient’s health history, family history and previous genetic testing. If patients are enrolled in the study, samples are obtained at this visit for genome sequencing, RNA sequencing and metabolic testing. The genome sequencing is analyzed using Emedgene, a genomic interpretation platform that incorporates advanced artificial intelligence with the detailed phenotypic information, distilled into HPO terms, as well as segregation information from the family history. A multidisciplinary team, titled the Genome Board, including clinical and laboratory specialists who will review the cases and interpret the genomic, RNA and biochemical information to help determine if an underlying cause of the patient’s symptoms can be found. At genome board we will review the patient’s detailed phenotype as well as the patient’s, exome, genome, RNA Transcriptome and biochemical testing. We will discuss recent research, potential research projects, novel gene discovery projects, as it is related to the patient’s gene and variant findings that may be related to their underlying genetic syndrome.

1. Define Variantion of Uncertain Significance
2. Summarize the utility and limitations of Whole Exome Sequencing (WES) in patients with undiagnosed rare disease
3. Explain how Whole Genome Sequencing (WGS) and RNA sequencing can increase the diagnostic yield for patients with undiagnosed rare disease
4. Summarize the goals of a multidisciplinary team approach that integrates phenotypic and genomic data to aid in the diagnosis of patients with rare disease
5. Explain how collaborations can form between URDC and researchers to investigate rare variants or describe novel diseases

For questions about accessibility or to request accommodations please contact the IUSM CME office at 317-274-0104 or [email protected]. One week advance notice will allow us to provide seamless access. Please ensure to specify the accommodations you need in order to participate.

AMA PRA Category 1 Credits™ (1.00 hours), Non-Physician Attendance (1.00 hours)

Date	Empty Column	Title
		No activities are currently published for this month.
No upcoming dates have been setup.