Mouse Models of Kaposiform Lymphangiomatosis скачать в хорошем качестве

Mouse Models of Kaposiform Lymphangiomatosis

In this webinar, the 2024 Alfie Milne Young Investigator Award recipient Griffin McDaniel (Cincinnati Children’s Hospital) presents his groundbreaking research on kaposiform lymphangiomatosis (KLA), a rare and life-threatening complex lymphatic anomaly. McDaniel shares his team’s development of novel in vitro and in vivo mouse models that mimic key clinical and histological features of KLA, including spindled endothelial cells, elevated angiopoietin-2 levels, and abnormal lymphatic vessel development. Using the NRAS Q61R mutation—identified in most KLA patients—McDaniel demonstrates how this gene drives uncontrolled MAPK signaling and contributes to KLA pathology. He explains the models’ utility in understanding disease mechanisms, evaluating potential therapies like trametinib and sirolimus, and investigating targets for future mutation-specific inhibitors. 📌 Topics covered: The clinical and molecular features of KLA Development of inducible and lineage-specific mouse models Role of NRAS Q61R in lymphatic malformation Functional consequences on angiogenesis, cell shape, and biomarkers Implications for therapeutic discovery and drug screening This talk was made possible by funding from the LGDA and Lymphatic Malformation Institute, the Alfie Milne Young Investigator Award, and supporting families and institutions dedicated to rare disease research. 🔗 Learn more: lgdalliance.org | lmiresearch.org #KLA #RareDisease #LymphaticMalformation #NRAS #MAPKPathway #Angiopoietin2 #YoungInvestigatorAward #MouseModels #MedicalResearch #PediatricResearch #VascularAnomalies #ComplexLymphaticAnomalies #LymphaticMalformations