Award
NIH Reporter #5R01HL130996-09
Mosaic: post-zygotic mutations in vascular malformations
Recipient
Seattle Children's Hospital, Seattle, WA, United States
Award Amount
$848,274.00
Ceiling
$848,274.00
Awarded
May 30, 2024
Identifier
5R01HL130996-09
Research project funded by NHLBI to study post-zygotic mutations in vascular malformations, develop liquid biopsy diagnostics, and improve diagnosis and treatment.
Description
This project focuses on vascular malformations caused by post-zygotic (mosaic) activating mutations in oncogenes such as PIK3CA, KRAS, and MAP2K1, affecting pathways like PI3K-AKT and RAS-MAPK. The research aims to develop non-invasive liquid biopsy diagnostics to detect mosaic mutations in plasma-derived cell-free DNA, study gene expression changes in single cells within vascular malformations, and visualize gene expression in 2D and 3D space. The goal is to improve diagnosis and treatment options for individuals with vascular malformations.