How genes and early pregnancy alcohol exposure cause holoprosencephaly
Molecular and Developmental Analysis of Holoprosencephaly
This work looks at how genetic changes and brief early prenatal alcohol exposure together lead to holoprosencephaly to help families affected by this birth defect.
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-11310809 on NIH RePORTER |
What this research studies
I would be told that researchers use mouse models carrying mutations in genes like CDON to mimic risk for holoprosencephaly. They give a short, early exposure to alcohol in pregnancy and then follow embryonic development to see which cells and signaling pathways are disrupted. The team focuses on Nodal and Hedgehog signaling and on how common genetic differences change the outcome. Their experiments aim to map the timing and cell types that make embryos vulnerable so the results can guide prevention and counseling.
Who could benefit from this research
Good fit: People or families with a history of holoprosencephaly, pregnant people concerned about early alcohol exposure, or individuals known to carry mutations in Nodal/Hedgehog pathway genes would be the most relevant for related human studies.
Not a fit: Patients without genetic risk for HPE or those with unrelated developmental conditions are unlikely to receive direct benefit from this work.
Why it matters
Potential benefit: If successful, the findings could help identify people at higher risk, clarify critical windows to avoid alcohol exposure, and inform genetic counseling and future prevention strategies.
How similar studies have performed: Previous mouse studies have shown CDON mutations and prenatal alcohol can interact to produce HPE-like outcomes, but the precise embryonic targets of alcohol remain unidentified.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Krauss, Robert S. — Icahn School of Medicine at Mount Sinai
- Study coordinator: Krauss, Robert S.
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.