Investigating genetic contributions to human health and disease through whole genome sequencing.
Official title: HIGH THROUGHPUT GENOTYPING AND DNA SEQUENCING FOR STUDYING THE GENETIC CONTRIBUTIONS TO HUMAN HEALTH AND DISEASE -WHOLE GENOME SEQUENCING (30X) FOR NHGRI (QUINLAN)
Funded at Johns Hopkins University · NIH-11216054 · Data updated 2026-11-12
This study is looking at the DNA of families from Utah to find out how genes might affect health and disease, and it's for anyone interested in understanding the genetic factors behind different health conditions.
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 24, 2024 |
| Project end | September 8, 2027 |
| Funding year | 2024 |
| Award (this year) | $182,700 |
| NIH project number | 75N92024D00013-0-759202400009-1 |
| Project ID | NIH-11216054 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for participation include individuals from the fourth generation of the original Utah CEPH families who are willing to provide DNA samples.
✕Less likely to help
Patients who do not belong to the specified Utah CEPH family lineage may not receive any benefit from this research.
What this research studies
This research focuses on understanding the genetic factors that influence human health and disease by conducting whole genome sequencing (WGS) on DNA samples. It builds upon a historical resource of genomes from large Utah families, aiming to add 300 new genomes from the fourth generation of these families. By analyzing these genomes, researchers will be able to identify genetic variations and mutations that may contribute to various health conditions. This project utilizes advanced bioinformatics tools to ensure accurate interpretation of genetic data.
Why it matters
Potential benefit: If successful, this research could lead to better understanding of genetic diseases and improved strategies for prevention and treatment.
How similar studies have gone: Previous research utilizing similar genomic resources has shown significant success in mapping human genetics and understanding disease mechanisms.
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.