Investigating genetic factors linked to heart defects in children with Down Syndrome
Official title: Rare variants associated with AVSD in Down Syndrome
Funded at Emory University · NIH-10900433 · Data updated 2026-11-12
This study is looking at the genes that might cause atrioventricular septal defects (AVSD), a heart problem that often affects babies with Down Syndrome, to help find better ways to prevent and treat this condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project start | September 13, 2024 |
| Project end | September 12, 2027 |
| Funding year | 2024 |
| Award (this year) | $48,974 |
| NIH project number | 1F31HL168878-01A1 |
| Project ID | NIH-10900433 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include infants and children diagnosed with Down Syndrome, particularly those with or at risk for atrioventricular septal defects.
✕Less likely to help
Patients without Down Syndrome or those who do not have congenital heart defects may not benefit from this research.
What this research studies
This research focuses on understanding the genetic factors that contribute to atrioventricular septal defects (AVSD), a serious congenital heart defect that is more common in infants with Down Syndrome. By analyzing genetic variations, the study aims to identify specific genes that may increase the risk of AVSD in this population. The research will involve genetic testing and analysis of patients to uncover the underlying mechanisms that lead to these heart defects. Ultimately, the goal is to improve prevention and treatment strategies for affected infants and children.
Why it matters
Potential benefit: If successful, this research could lead to better prevention and treatment options for congenital heart defects in children with Down Syndrome.
How similar studies have gone: Previous research has shown promising results in identifying genetic factors associated with congenital heart defects, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Emory University
Atlanta, United States Active
Researchers
- Principal investigator: Feldman, Elizabeth — Emory University
- Study coordinator: Feldman, Elizabeth
Related research
Other NIH-funded projects on the same topics.
-
Exploring how Down syndrome affects optic nerve health in kids
A study using a mouse model to understand why optic nerve problems are common in children with Down syndrome and how to prevent them.
-
Executive Function Enhancement for Young Children with Down Syndrome
A caregiver-guided program for kids with Down syndrome aged up to 11 to strengthen their thinking skills during early childhood.
-
Silencing an Extra Chromosome to Help Down Syndrome and Related Conditions
A patient-friendly plan to use a gene-based approach to quiet an extra chromosome in cells and a mouse model to reduce disease-related effects in Down syndrome and other chromosomal imbalance disorders.
-
Infant Down Syndrome Brain and Behavior Study
A study of infants with Down syndrome to collect brain imaging and developmental data, creating a large, shared resource to understand how autism and other factors relate to development.
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DS-ARC: Smartphone-based cognitive check for people with Down syndrome at risk for Alzheimer’s
A smartphone-based cognitive test is being developed and tested for people with Down syndrome who may develop Alzheimer’s disease, to track changes quietly in daily life.
-
Immune and NGF factors in Alzheimer’s for adults with Down syndrome
This grant studies why people with Down syndrome develop Alzheimer’s disease by looking at immune signals and nerve growth factor problems.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.