Understanding the causes of holoprosencephaly and related brain malformations
FUNCTIONAL CHARACTERIZATION OF NOVEL DETERMINANTS OF HOLOPROSENCEPHALY (HPE)
This study is looking into the genes that might cause holoprosencephaly, a serious brain condition in newborns, to help us understand it better and find ways to improve diagnosis and treatment for affected families.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11070200 on NIH RePORTER |
What this research studies
This research investigates the genetic and epigenetic factors that contribute to holoprosencephaly (HPE), a severe brain malformation that can lead to significant health issues in newborns. By using mouse models and advanced genetic techniques, the study aims to identify specific genes and pathways involved in the development of HPE. The research focuses on a gene called PRDM15 and its role in regulating other important biological processes that affect brain development. Patients may benefit from insights gained into the genetic causes of their conditions, potentially leading to improved diagnosis and treatment options.
Who could benefit from this research
Good fit: Ideal candidates for this research include newborns diagnosed with holoprosencephaly or other congenital brain malformations.
Not a fit: Patients with brain malformations not related to genetic factors or those with acquired brain injuries may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of congenital brain malformations, improving outcomes for affected infants.
How similar studies have performed: Previous research has shown success in identifying genetic factors associated with congenital malformations, suggesting that this approach may yield valuable insights.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Guccione, Ernesto — Icahn School of Medicine at Mount Sinai
- Study coordinator: Guccione, Ernesto
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.