Ethical guidance for one-person genomic treatments for ultra-rare childhood diseases
Providing ethical guidance for the development of individualized genomic medicine as rare as n-of-1
Creating clear ethical guidance to help families and clinicians make choices about individualized gene therapies for children with extremely rare genetic conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11173640 on NIH RePORTER |
What this research studies
This project looks at the ethical, legal, and social questions that come up when doctors design gene-targeted treatments for a single patient, such as customized antisense oligonucleotide (ASO) therapies. Researchers will work with families, clinicians, and ethicists to review real cases, gather perspectives, and identify common concerns like informed consent, therapeutic optimism, and evidence thresholds. They will use those findings to create practical recommendations and documentation that hospitals and families can use when considering n-of-1 treatments. The aim is to make decision-making safer and more transparent for children facing life-threatening rare diseases.
Who could benefit from this research
Good fit: Children with extremely rare genetic disorders (for example, Batten disease) whose care teams are exploring individualized antisense oligonucleotide or similar n-of-1 genomic therapies.
Not a fit: Patients who are seeking standard, approved treatments or who do not have genetic variants amenable to individualized genomic approaches are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could provide clear rules and tools to protect children and guide families and clinicians when considering individualized genomic treatments.
How similar studies have performed: A very small number of individualized ASO cases have shown promise and sparked related ethics work, but comprehensive guidance for n-of-1 genomic medicine remains novel and emerging.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Yu, Timothy Wei-Wen — Boston Children's Hospital
- Study coordinator: Yu, Timothy Wei-Wen
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.