Using advanced algorithms to find genetic causes of heart defects in individuals with Down syndrome
Official title: Investigation and deployment of novel Bayesian inference algorithms in CAVATICA for identifying genomic variants underlying congenital heart defects in Down syndrome individuals
Funded at University of Florida · NIH-11065084 · Data updated 2026-11-12
This study is looking at how certain genes might cause heart problems in people with Down syndrome, hoping to find new ways to help them by using advanced technology to look closely at their DNA.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Florida NIH-funded |
| Lab location | 1 site (Gainesville, United States) |
| Project start | May 1, 2023 |
| Project end | April 30, 2026 |
| Funding year | 2023 |
| Award (this year) | $284,410 |
| NIH project number | 7R03HL168984-02 |
| Project ID | NIH-11065084 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with Down syndrome, particularly those who have been diagnosed with congenital heart 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 investigates the genetic factors contributing to congenital heart defects (CHD) in individuals with Down syndrome (DS) by applying a novel Bayesian inference framework. The study aims to analyze clinical and genomic data to identify significant genetic variants that may increase the risk of heart defects in these patients. By focusing on individual genomes, the research seeks to uncover rare genetic variants that traditional methods may overlook, ultimately advancing personalized medicine for affected individuals. The findings could help improve understanding and treatment of heart defects in the DS population.
Why it matters
Potential benefit: If successful, this research could lead to better identification and management of congenital heart defects in individuals with Down syndrome.
How similar studies have gone: Previous research has shown promise in using advanced genomic analysis techniques to identify genetic variants associated with various conditions, suggesting potential success for this novel approach.
Where this research is happening
-
University of Florida
Gainesville, United States Active
Researchers
- Principal investigator: Liu, Jinling — University of Florida
- Study coordinator: Liu, Jinling
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.
-
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.