Gene editing in unborn babies to treat a liver disease
In utero gene editing to cure a metabolic liver disease
This study is testing a new way to fix a genetic problem that causes hereditary tyrosinemia type I, a serious liver disease, by using a special gene editing tool before the baby is born, which could help prevent the disease from causing harm.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10771927 on NIH RePORTER |
What this research studies
This research aims to use advanced gene editing techniques to correct genetic mutations responsible for hereditary tyrosinemia type I (HT1), a severe metabolic liver disease. By applying CRISPR-Cas9 technology in utero, the researchers hope to edit the faulty FAH gene before the baby is born, potentially preventing the disease from causing irreversible damage. The approach focuses on leveraging the unique characteristics of the developing fetus to enhance the effectiveness of the gene editing process. This innovative strategy could offer a new therapeutic option for families affected by this life-threatening condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are pregnant women carrying a fetus diagnosed with hereditary tyrosinemia type I or at high risk for the condition due to family history.
Not a fit: Patients who are already diagnosed with HT1 and have reached adulthood or those who are not pregnant will not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a cure for hereditary tyrosinemia type I, significantly improving the quality of life and survival rates for affected infants.
How similar studies have performed: Other research has shown promise with CRISPR gene editing techniques, but the specific application of in utero gene editing for metabolic liver diseases is still largely novel.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Peranteau, William H. — Children's Hosp of Philadelphia
- Study coordinator: Peranteau, William H.
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.