Improving access to genomic research for rare diseases in underrepresented populations
Official title: Advancing Equity in Rare Disease Genomics
Funded at Boston Children's Hospital · NIH-11135905 · Data updated 2026-11-12
This study is all about finding ways to get more people from underrepresented groups involved in research about rare diseases, so we can better understand their needs and make sure everyone has equal access to the benefits of genomic medicine.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 19, 2024 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $716,587 |
| NIH project number | 1R56HG013725-01 |
| Project ID | NIH-11135905 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals from minoritized populations who are affected by rare diseases.
✕Less likely to help
Patients who are not from minoritized backgrounds or who do not have rare diseases may not benefit from this research.
What this research studies
This research aims to enhance participation of minoritized populations in genomic research related to rare diseases. It will identify barriers and facilitators to engagement through interviews with participants and healthcare providers. The study will develop a toolkit to promote diversity, equity, and inclusion in genomic research, and evaluate its effectiveness using a mixed-methods approach. By addressing these gaps, the project seeks to ensure equitable access to genomic medicine services.
Why it matters
Potential benefit: If successful, this research could lead to more equitable access to genomic diagnostics and therapies for rare diseases among underrepresented populations.
How similar studies have gone: Other research has shown success in improving participation of underrepresented groups in clinical studies, indicating that this approach has potential.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Wojcik, Monica Hsiung — Boston Children's Hospital
- Study coordinator: Wojcik, Monica Hsiung
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.