CardioGen – Genetic Variation in Cardiovascular Diseases
A comprehensive Romanian-Moldovan research collaboration examining genetic variations affecting cardiovascular health in Eastern Europe. Leveraging advanced bioinformatics and genomics to identify causal variants linked to hypertrophic cardiomyopathy (HCM) and acute coronary syndromes (ACS), advancing precision cardiovascular medicine.
From data compilation to variant discovery and clinical interpretation through integrated bioinformatics.
Project Overview
CardioGen addresses the urgent need for genetic research in Eastern European populations, where cardiovascular diseases remain a major health issue. With limited data on genetic predisposition in Romania and neighboring regions, this project fills critical gaps through comprehensive genomic analysis.
European Cardiac Dataset
1,455 publicly available samples representing European ancestry and cardiac diseases.
Romanian HCM Dataset
45 samples targeting 174 cardiac genes with multiple rare variants identified.
Romanian ACS Dataset
150 patients with integrated clinical and genomic data.
Project Objectives
Three integrated aims combining comparative genomic analysis, functional variant assessment, and advanced statistical testing to identify causal genetic variations influencing cardiovascular health in Eastern European populations.
Aim 1: Comparative Variant Analysis
- Multi-tool variant calling
- Cross-dataset harmonization
- Population-specific markers
- Comparative European analysis
Aim 2: Functional Impact
- Annotation and scoring
- Pathway analysis
- Regulatory impact
- Genotype-phenotype studies
Aim 3: SKAT Implementation
- Rare/common variant analysis
- Adaptive weighting
- Multivariate testing
- Pleiotropic effects
Scientific Innovation
- Romanian genetic study
- Eastern Europe insights
- New statistical methods
- Open bioinformatics tools
Methodology & Work Packages
A 24-month project structured into 5 work packages spanning project management, comparative variant analysis, functional assessment, advanced statistical testing, and knowledge dissemination.
WP1: Project Management (M1-M24)
Coordination, monitoring, and collaboration.
WP2: Variant Analysis
QC, alignment, and genomic analysis.
WP3: Functional Assessment
Annotation and interpretation.
WP4: SKAT
Advanced statistical testing.
WP5: Knowledge Transfer
Publications and platform.
Risk Mitigation
QC protocols and fallback strategies.
Research Team
A complementary Romanian-Moldovan collaboration combining clinical cardiology expertise with advanced bioinformatics and statistical modeling capabilities.
CEHB Romania Team
- Dr. Miruna Micheu – Project Director, cardiology & genomics
- Dr. Nicoleta Popa-Fotea – Cardiology & phenotype analysis
- Dr. Maria Petre – Data analysis & management
TUM Moldova Team
- Dr. Dumitru Ciorbă – Bioinformatics & coordination
- Dr. Alexei Leahu – Statistics & SKAT
- Viorel Munteanu – Genomics & analysis
- Eugeniu Catlabuga – Software & ML
Research Infrastructure
State-of-the-art facilities and equipment at both partner institutions enabling comprehensive cardiovascular genetics research.
CEHB Romania Facilities
Cardiovascular excellence center with advanced imaging systems.
Medical Genetics Laboratory
DNA sequencing, extraction systems, and full clinical infrastructure.
TUM Moldova – CIRCLE
High-performance computing for bioinformatics analysis.
Research Visits & Collaboration
Training and collaboration visits
Extended research exchange
Skills, collaboration, and alignment
Expected Results & Deliverables
Comprehensive outputs spanning high-quality genomic data, variant analysis reports, functional assessments, advanced statistical tools, and scientific dissemination.
- WP1: Project management, reports, coordination
- WP2: Data reads, VCF files, comparative analysis
- WP3: Variant annotation and pathway analysis
- WP4: SKAT analysis and toolbox
- WP5: Publications, conferences, platform
Scientific Impact
- Genetic study of Romanian CVD patients
- Eastern Europe markers
- Cardiomyopathy insights
- New statistical methods
- Open-access tools
- Research capacity growth
- Precision medicine foundation
- International visibility