Precision Medicine for Vascular Anomalies
Speaker:
James T. Bennett, MD, PhD, Associate Professor, Department of Pediatrics, Department of Lab Medicine and Pathology (Adjunct), University of Washington/Seatthe Children's Hospital
Contact Hours:
1.0
Date:
January 23, 2025 - January 31, 2026
Description:
The concept of the "personalized genome" is pervasive in human genetics. There is an ever-increasing armament of diagnostic tests designed to detect, record, and interpret genetic variation in DNA. An implicit assumption of blood-based sequencing is that the genomes of the cells in a single sample represent the genomes of every other cell in the body. However, every multicellular organism has multiple genomes due to somatic mutations. This webinar discusses "VANSeq," a diagnostic assay for isolated vascular malformations, explores intralesional signaling, non-invasive "liquid biopsies," and summarizes new attempts to catalogue somatic mutation in a larger cohort of humans, as part of the SMaHT initiative.
Learning Objectives:
- Recognize the limitations of routine blood-based exome and genome sequencing for individuals with vascular malformations.
- Describe the two main factors that go into successful molecular diagnoses of vascular malformations.
- Consider the implicit assumption in all blood-based genetic tests.