Improving access to genetic data for better understanding of diseases
Official title: Strengthening community knowledge bases for genetic association studies and polygenic scores, the GWAS and PGS Catalogs
Funded at European Molecular Biology Laboratory · NIH-10885982 · Data updated 2026-11-12
This study is working to make it easier for researchers to access and understand genetic information about diseases, which could help patients get better insights into their health and more personalized treatments in the future.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | European Molecular Biology Laboratory NIH-funded |
| Lab location | 1 site (Heidelberg, Germany) |
| Project start | September 20, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2024 |
| Award (this year) | $1,058,402 |
| NIH project number | 5U24HG012542-03 |
| Project ID | NIH-10885982 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for benefiting from this research include individuals with complex diseases such as cancers, cardiovascular diseases, and diabetes who are interested in genetic factors affecting their conditions.
✕Less likely to help
Patients with conditions that are not influenced by genetic factors or those who do not have access to genetic testing may not benefit from this research.
What this research studies
This research focuses on enhancing the Genome Wide Association Studies (GWAS) Catalog, which collects and organizes genetic data to help researchers understand how genetic variations relate to complex diseases. By improving data accessibility and integrating it with Polygenic Scores (PGS), the project aims to provide a comprehensive resource for biomedical researchers. Patients may benefit from this research as it could lead to better insights into genetic factors affecting their health and the development of personalized treatment options. The project will also automate data curation and visualization to ensure high-quality information is available for analysis.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding of genetic factors in diseases, potentially resulting in more personalized and effective treatments for patients.
How similar studies have gone: Previous research has shown success in utilizing GWAS data to uncover genetic associations with various diseases, indicating that this approach is both tested and promising.
Where this research is happening
-
European Molecular Biology Laboratory
Heidelberg, Germany Active
Researchers
- Principal investigator: Parkinson, Helen Elizabeth — European Molecular Biology Laboratory
- Study coordinator: Parkinson, Helen Elizabeth
Related research
Other NIH-funded projects on the same topics.
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Strengthening GWAS and Polygenic Score Databases to Accelerate Human Health
A project to improve a disease genetics resource so researchers and clinicians can better understand how genetic factors relate to cancers, heart disease, and diabetes.
-
Mouse Phenotyping Data Resource to Link Genes with Disease,”
A large international project uses mouse biology to connect genes to diseases and provide ready-to-use mouse strains for researchers and clinicians.
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Strengthening genetic association data and polygenic score resources for health
A big NIH project to improve and expand public catalogs of genetic associations and polygenic scores so researchers and clinicians can better understand complex diseases like cancer, heart disease, and diabetes.
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Mouse Phenotyping Informatics Infrastructure for linking genes to diseases
A big data project to map mouse gene changes to disease traits by collecting and analyzing thousands of mouse phenotypes to help understand human cardiac diseases.
-
Mouse genetics platform linking mouse traits to human heart disease
This project builds a shared mouse-data platform to find mouse strains and gene links that could help people with heart conditions.
-
Investigating cancer disparities in Black patients through genetic and environmental analysis
This study is looking into why Black patients, especially those from West Africa, have higher rates of aggressive prostate, breast, and pancreatic cancers, and it aims to find out how genetics, environment, and social factors play a role, so we can better understand and address these health disparities.
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.