Expert review of genes and DNA changes linked to childhood brain malformations
Brain Malformation Expert Panels for Gene and Variant Curation
This project creates a trusted, easy-to-use list of genes and genetic changes that cause brain malformations in children to help doctors and families.
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-11324002 on NIH RePORTER |
What this research studies
A team of clinical and research experts will review published studies and clinical data to make a clear, high-quality catalog of genes and DNA variants tied to brain malformations. They will use standard ClinGen rules and work with biocurators to rate how strong the evidence is for each gene and variant. The panel will pay special attention to somatic mutations (changes that occur after conception) which can be hard to classify. The curated resource will be organized so clinicians and families can use it to support diagnosis and management decisions.
Who could benefit from this research
Good fit: Children with suspected genetic brain malformations or families seeking a genetic diagnosis would be most relevant to this work.
Not a fit: People with brain conditions that are clearly non-genetic or who cannot access genetic testing may not directly benefit from this resource.
Why it matters
Potential benefit: If successful, this resource could lead to clearer genetic diagnoses and more informed care plans for children with brain malformations.
How similar studies have performed: Other ClinGen expert curation panels have successfully produced clinically used gene and variant lists, so this approach builds on proven methods.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Poduri, Annapurna — Boston Children's Hospital
- Study coordinator: Poduri, Annapurna
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.