CLEAR Consortium

3 June 2021

The CLEAR (Congenital Esophageal and Airway Defect Research) Consortium is a collaborative research program funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development focused on understanding birth defects (P01 HD093363).

The goal of the CLEAR consortium is to discover the genetic and developmental causes of trachea-esophageal birth defects to enhance diagnosis, improve treatment, and explore the possibility of generating human stem cells that might ultimately be used in transplantation.

By better understanding the genetic causes of trachea-esophageal birth defects, we aim to improve the diagnosis and treatment of these potentially life-threatening conditions.

The first project is a comprehensive assessment of causative mutations (genotype) in trachea-esophageal defect patients using new MRI techniques to provide a detailed anatomic and functional analysis of these defects (phenotype). This clinical and genetic data is combined to establish a national trachea-esophageal defect registry.

The second project focuses on the molecular and cellular development of trachea-esophageal defects using animal models. Determining the disruptions in development of the trachea and esophagus in animal models will help to determine similar causes in human patients.

The third project focuses on stem cells to create human esophageal organoids in a dish. These novel stem-cell derived human foregut organoids will be used to investigate how mutations affect human esophageal and respiratory development.

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