What is GENIE-TA?
GENIE-TA is a translational research project aimed at identifying previously undetected genetic causes of thoracic aortic disease.
While current genetic testing explains only a minority of cases, many patients remain without a clear diagnosis.
GENIE-TA uses whole genome sequencing combined with advanced epigenomic analysis to explore overlooked regions of the genome and uncover hidden disease mechanisms.
Why this matters
Thoracic aortic aneurysms and dissections are often silent until they become life-threatening.
Despite advances in genetic testing, only 15–20% of patients currently receive a genetic diagnosis.
This leaves the majority of patients without a clear explanation for their disease, limiting early detection, family screening, and prevention.
GENIE-TA addresses this gap by investigating genetic mechanisms that are not captured by standard testing approaches.
What we do
- Perform whole genome sequencing in patients without a known genetic cause
- Investigate non-coding regions of the genome, including regulatory elements
- Identify deep intronic variants that may affect gene splicing
- Detect structural genetic variation not captured by standard diagnostics
- Integrate genomic data with epigenomic and chromatin datasets
- Explore candidate genes based on prior GWAS findings
Scientific foundation
GENIE-TA is embedded within a strong translational research framework combining clinical genetics, cardiothoracic surgery, and experimental cardiology.
The project integrates whole genome sequencing data with existing epigenomic datasets, enabling a comprehensive analysis of both coding and non-coding regions of the genome.
This approach allows us to move beyond traditional genetic testing and uncover mechanisms that have previously remained hidden.
Impact
For individuals
Increasing the likelihood of receiving a genetic diagnosis and enabling family screening.
For researchers
Identifying new disease mechanisms and genetic pathways.
For healthcare
Improving interpretation of genetic testing and clinical decision-making.
For society
Improving early detection and prevention of life-threatening events.
