Genetic testing and gene follow-up for underserved children with suspected rare conditions
Genomic medicine and gene function implementation for an underserved population
Offers free whole-exome genetic testing and follow-up to underserved children in Houston who may have a rare genetic condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11087691 on NIH RePORTER |
What this research studies
If my child participates, the team will provide free whole-exome sequencing with a CLIA-certified report to help find a diagnosis. They plan to recruit 100 underserved individuals in Houston who cannot afford DNA testing, with an expected 35–40 diagnoses per year from the initial testing. Cases not solved by single exome testing will move to family (trio) exomes, use AI tools like the MARRVEL platform, and use Drosophila (fruit fly) functional studies to test candidate genes. Participants will be followed at 6 months, 12 months, and 2 years to track outcomes and help connect families with care, and all sequencing costs are covered by hospital philanthropy rather than the grant.
Who could benefit from this research
Good fit: Children from underserved families in the Houston area with suspected rare genetic disorders who cannot afford DNA testing are the ideal candidates.
Not a fit: People without a suspected genetic disorder or those living outside the Houston recruitment area are unlikely to be eligible or to benefit from this program.
Why it matters
Potential benefit: This could lead to a genetic diagnosis that explains symptoms and helps guide medical care and resources for patients and families.
How similar studies have performed: The team has prior success using the Undiagnosed Diseases Network model and model-organism functional studies to identify many new disease genes.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Bellen, Hugo J — Baylor College of Medicine
- Study coordinator: Bellen, Hugo J
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.