Why the same large DNA deletions cause different health problems
Characterizing disease-causing variants using personal genomes with large recurrent deletions
['FUNDING_OTHER'] · BAYLOR COLLEGE OF MEDICINE · NIH-11083763
This project looks for other genetic changes that explain why people with the same big DNA deletions may or may not develop conditions like early-onset diabetes or abnormal head size.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BAYLOR COLLEGE OF MEDICINE (nih funded) |
| Locations | 1 site (HOUSTON, UNITED STATES) |
| Trial ID | NIH-11083763 on ClinicalTrials.gov |
What this research studies
If you have a large, recurrent DNA deletion, researchers may ask to use your genetic and clinical information to find other variants that change how the deletion affects health. The team will gather many patients with the same recurrent deletions and compare whole-genome or clinical genetic data to spot modifier alleles. They will focus on two regions that link to early-onset diabetes (17q12) and head-size differences (1q21.1) while using clinical records and molecular data from diagnostic testing. The goal is to create a general approach that can predict which individuals with these deletions are more likely to develop specific symptoms.
Who could benefit from this research
Good fit: People who carry large, recurrent genomic deletions—especially at 17q12 or 1q21.1—or who have early-onset diabetes or unusual head size and available genetic test results are ideal candidates.
Not a fit: People without these specific recurrent deletions or whose conditions are caused by unrelated genetics or environmental factors are unlikely to benefit from this project.
Why it matters
Potential benefit: If successful, this work could help predict who with certain large deletions is likely to develop conditions like early-onset diabetes, improving diagnosis, counseling, and personalized follow-up.
How similar studies have performed: Finding modifier variants has helped explain variability in some genetic disorders, but using large recurrent deletions systematically as a background to identify modifiers is a relatively new and still testing approach.
Where this research is happening
HOUSTON, UNITED STATES
- BAYLOR COLLEGE OF MEDICINE — HOUSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LIU, PENGFEI — BAYLOR COLLEGE OF MEDICINE
- Study coordinator: LIU, PENGFEI
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 below.
Conditions: Diabetes Mellitus