A panel of experts curating genetic information for syndromic disorders in children
Gene Curation Expert Panel for Syndromic Disorders
This study is all about helping kids with genetic conditions that cause birth defects by using advanced technology to find the right diagnosis, which can help families make informed medical decisions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10876489 on NIH RePORTER |
What this research studies
This research involves a team of international experts who are focused on improving the understanding of genetic syndromes that affect children, particularly those with structural birth defects and congenital anomalies. By utilizing next-generation sequencing technology, the team aims to accurately diagnose these rare genetic disorders, which is crucial for effective medical management and family planning. The experts will curate and evaluate the evidence linking specific genes to these disorders, ensuring that genetic testing is based on reliable information. This collaborative effort includes various stakeholders from renowned institutions and laboratories, enhancing the quality of genetic data available for pediatric patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who are suspected of having syndromic disorders or rare genetic conditions.
Not a fit: Patients with non-genetic disorders or those outside the pediatric age range may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and better management of genetic syndromes in children, ultimately improving health outcomes.
How similar studies have performed: Previous research has shown success in similar gene curation efforts, indicating a promising approach to understanding genetic disorders.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: O'donnell-Luria, Anne — Boston Children's Hospital
- Study coordinator: O'donnell-Luria, Anne
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.