Understanding the genetic causes of 22q11.2 Deletion Syndrome
Molecular Dissection of the 22q11.2 Deletion Syndrome
This study is looking at the genes related to 22q11.2 Deletion Syndrome to help us understand how it affects kids, with the hope of finding better ways to diagnose and treat the condition, so families with children who have this syndrome can gain helpful insights.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10909047 on NIH RePORTER |
What this research studies
This research investigates the genetic underpinnings of 22q11.2 Deletion Syndrome, a condition that can lead to various health issues in children. By using advanced optical mapping technology, the study aims to accurately map and sequence the unstable genomic region associated with this syndrome. The goal is to better understand the genetic variations and their impacts on affected individuals, which could lead to improved diagnosis and treatment options. Families with children affected by this condition may find valuable insights through this research.
Who could benefit from this research
Good fit: Ideal candidates for participation are children aged 0-11 years diagnosed with 22q11.2 Deletion Syndrome.
Not a fit: Patients who do not have 22q11.2 Deletion Syndrome or are older than 11 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted therapies for children with 22q11.2 Deletion Syndrome.
How similar studies have performed: Previous research has shown promise in understanding genetic disorders through advanced mapping techniques, indicating potential for success in this approach.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Emanuel, Beverly S — Children's Hosp of Philadelphia
- Study coordinator: Emanuel, Beverly 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.