Understanding heart development and defects related to a specific genetic syndrome

Molecular and cellular mechanisms in cardiac outflow tract formation and defects

NIH-funded research University of Chicago · NIH-10907587

This study is looking at how certain genes might cause heart defects in babies, especially those with a condition called 22q11.2 deletion syndrome, by using mice to see how heart cells work together during development, with the hope of finding better ways to help those affected.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionUniversity of Chicago NIH-funded
Lab location1 site (Chicago, United States)
Project IDNIH-10907587 on NIH RePORTER

What this research studies

This research investigates how genetic factors contribute to heart defects, particularly focusing on the 22q11.2 deletion syndrome, which affects many newborns. By using a mouse model, the study explores the interactions between different types of heart cells during development to identify how these interactions may lead to congenital heart issues. The goal is to uncover the mechanisms behind these defects, which could lead to better understanding and treatment options for affected patients.

Who could benefit from this research

Good fit: Ideal candidates for this research are newborns diagnosed with 22q11.2 deletion syndrome or congenital heart defects.

Not a fit: Patients without 22q11.2 deletion syndrome or those with heart defects not related to genetic factors may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to improved diagnosis and treatment strategies for congenital heart defects associated with 22q11.2 deletion syndrome.

How similar studies have performed: Previous research has shown promising results in understanding cardiac defects through genetic studies, indicating that this approach may yield valuable insights.

Where this research is happening

Chicago, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions 22q11 Chromosomal Microdeletion Syndrome22q11 Deletion Syndrome22q11.2 deletion syndromeAutosomal dominant Opitz G/BBB syndrome
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.