Understanding genetic mutations linked to severe developmental disorders and fetal demise
Illuminating the distribution of extreme evolutionary constraint in the human genome from fetal demise to severe developmental disorders
This study is looking at how specific genetic changes can lead to serious developmental issues and loss of pregnancy, and it's for families who have experienced fetal loss, as it hopes to find important genetic clues that could help improve care and treatment in the future.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Harvard Medical School NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11001191 on NIH RePORTER |
What this research studies
This research investigates how certain genetic mutations contribute to severe developmental disorders and fetal demise by analyzing a large cohort of genetic samples. The study will utilize whole-genome sequencing and autopsy data from families affected by fetal demise to identify critical genomic regions that are highly sensitive to mutations. By integrating this data with existing developmental disorder cohorts, the research aims to uncover patterns of genetic variation that could inform future treatments and interventions for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include families who have experienced fetal demise or have children with severe developmental disorders.
Not a fit: Patients with developmental disorders not linked to genetic mutations or those who have not experienced fetal demise may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for severe developmental disorders and conditions leading to fetal demise.
How similar studies have performed: Previous research has shown success in identifying genetic factors associated with developmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
Boston, United States
- Harvard Medical School — Boston, United States (Active)
Researchers
- Principal investigator: Wang, Lily — Harvard Medical School
- Study coordinator: Wang, Lily
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.