Investigating genetic factors that affect human health and disease.
Official title: HIGH THROUGHPUT GENOTYPING AND DNA SEQUENCING FOR STUDYING THE GENETIC CONTRIBUTIONS TO HUMAN HEALTH AND DISEASE - WHOLE EXOME SEQUENCING FOR NCI
Funded at Johns Hopkins University · NIH-11220055 · Data updated 2026-11-12
This study is looking at how our genes might affect different health conditions, and it's for anyone interested in learning more about inherited disorders to help improve treatments and understanding of these issues.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | September 20, 2024 |
| Project end | September 8, 2027 |
| Funding year | 2024 |
| Award (this year) | $416,000 |
| NIH project number | 75N92024D00013-0-759202400006-1 |
| Project ID | NIH-11220055 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known hereditary diseases or those with a family history of genetic disorders.
✕Less likely to help
Patients with conditions that are not influenced by genetic factors may not receive any benefit from this research.
What this research studies
This research focuses on high-throughput genotyping and DNA sequencing to identify genetic factors that contribute to various health conditions. By analyzing genetic data, the study aims to uncover the roles of specific genes and genetic modifications in human health and disease. Patients may benefit from this research as it could lead to better understanding and treatment options for inherited disorders. The research employs advanced sequencing technologies to gather comprehensive genetic information.
Why it matters
Potential benefit: If successful, this research could provide insights into genetic contributions to diseases, leading to improved diagnosis and treatment strategies for patients.
How similar studies have gone: Previous research using high-throughput genotyping and DNA sequencing has shown success in identifying genetic factors related to various diseases, indicating that this approach is both tested and promising.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Doheny, Kim — Johns Hopkins University
- Study coordinator: Doheny, Kim
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.