Medical College of Wisconsin
Beth Drolet, MD
University of Wisconsin – Madison
Vascular anomalies represent a diverse group of developmental disorders and affect patient-reported quality of life globally, but particularly mental health and emotional well-being due to severe tissue overgrowth; chronic pain; functional impairment; and life-altering, stigmatizing disfigurement. Unfortunately, the care available to these patients suffers from large gaps in clinical practice. Misdiagnosis is common because vascular anomalies result in diverse clinical presentations. Even patients who are correctly diagnosed are likely to undergo invasive and often unsuccessful surgical procedures because no standardized treatment protocols or FDA-approved drugs have been developed to treat vascular anomalies.
We hypothesize that the spatially resolved transcriptome will elucidate shared expression patterns across three key signaling pathways and will accurately locate the depth of altered signaling within the tissue. This will guide molecularly targeted drug development and will help determine the best mechanism for drug delivery (e.g., topical, injectable, or oral). We will investigate our hypothesis through the following aims:
Aim 1: Clarify genotype–phenotype correlations by expanding the existing PeDRA national registry and leveraging cutting-edge 3D imaging technology
Aim 2: Determine the landscape of mRNA expression with spatial resolution in vascular anomalies
This project was funded through a 2021 PeDRA Research Fellowship Grant.