To Identify Genes Regulated by FOXF1 Using ChIP Seq Techniques and to Establish VA10 Cells as an In Vitro Model for Lung Development

Project: Research project

Project Details


Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV, OMIM #265380) is a fatal lung developmental disorder characterized by misalignment of pulmonary veins, severe lack of alveolar capillaries, hypertrophy of arterial musculature, and lobular underdevelopment. Additionally, malformations of the gastrointestinal (GI), cardiovascular (CV) and genitourinary (GU) systems frequently accompany the pulmonary malformations. Our previous work established that mutations and deletions in FOXF1 account for approximately 60% of the cases, the majority of which are sporadic but with 10% being familial. Now that the first gene responsible for ACDMPV has been identified, future work needs to focus on the identification of other critical genes in the FOXF1 regulatory network to understand vasculogenesis and to identify other candidate genes that may be responsible for other forms of pulmonary vascular disease.
Effective start/end date1/21/161/20/18


  • National Organization for Rare Disorders, Inc. (Agr. 01/21/2016)


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