Researching the cause and treatment of trachea-esophageal birth defects
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Identification and validation of risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas
April 15, 2022. Esophageal atresias/tracheoesophageal fistulas (EA/TEF) are rare congenital anomalies in aberrant development of the foregut. CLEAR Consortium members performed whole genome sequencing of 185 trios (probands and parents) with EA/TEF, including 59 isolated and 126 complex cases with congenital anomalies and/or neurodevelopmental disorders. Their results implicate disruption of endosome-mediated epithelial remodeling as a potential mechanism of foregut developmental defects. Read more.
New Assembly Approach Generates Most Complex Stomach Organoids to Date
December 1, 2021. In a significant step forward in regenerative medicine, CLEAR Consortium members report success at developing a stomach organoid so sophisticated that it has distinct glands and nerve cells that can control smooth muscle contractions. Read more.
CLEAR Consortium members discover the genetic pathways disrupted in tracheomalacia
December 16, 2020. CLEAR consortium members discover a genetic network that when disrupted in the developing fetus can cause tracheomalacia, a condition where the trachea collapses due to lack of cartilage. Read more.
ADVANCEments in Next-Generation Organoid Development
August 27, 2020. A collaboration between CLEAR Consortium and RIKEN Japan’s largest comprehensive research institution, advances efforts to use human stem cells to grow organs the trachea and esophagus tissue in the lab. Findings from this collaboration’s recent study were published in back-to-back reports in Nature Communications. A study summary and publication information was released in Research Horizons, Cincinnati Children’s Hospital’s research blog. Read more.
Novel candidate genes in EA/TEF identified by exome sequencing
July, 8 2020. A team led by Drs. Wendy Chung and Yufeng Shen from Columbia University and the CLEAR consortium identify novel candidate gene mutations in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients. The study, published in European Journal of Human Genetics on July 8, 2020, conducted exome sequencing of 44 patient-parent trios and identified 19 de novo variants predicted to be deleterious mutations. Strikingly, 15 out of 19 variants are located in genes that are putative target genes of EFTUD2 or SOX2 (another known EA/TEF gene), suggesting a gene network underlying the etiology of EA/TEF. Read more.
Revealing the Molecular Secrets of Trachea-Esophageal Birth Defects
December 10, 2019. Research conducted by Dr. Aaron Zorn and the CLEAR Consortium was recently published in Developmental Cell, and featured in Research Horizons, Cincinnati Children’s Hospital’s research blog. As described in Research Horizons, the research team used mouse and frog laboratory animals to uncover the biomechanics and molecular pathways of how the trachea and esophagus form and how mutations can cause birth defects. The investigators also discovered what can happen when those normal processes go wrong, and they learned new information that might one day help form the basis for developing regenerative therapies. Read more.
Esophageal Organoids from Human Pluripotent Stem Cells
September 20 2018. Dr. Jim Wells and researchers from the CLEAR Consortium report using pluripotent stem cells to grow human esophageal organoids in their latest paper published in Cell Stem Cell. These organoids can be used to model and study esophageal atresia and and may one day lead to regenerative tissue replacement therapies. Read more.
