Finding genetic variants that cause childhood blood disorders
Identification of causal non-coding variants in childhood genetic disorders
['FUNDING_OTHER'] · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · NIH-10690503
This study is looking at how certain parts of our DNA can affect how genes work and may lead to blood-related genetic disorders in children, with the goal of finding better treatments for those kids.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ST. JUDE CHILDREN'S RESEARCH HOSPITAL (nih funded) |
| Locations | 1 site (MEMPHIS, UNITED STATES) |
| Trial ID | NIH-10690503 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding how specific DNA elements, known as cis-regulatory modules (CRMs), influence gene expression and contribute to childhood genetic disorders, particularly those affecting blood cell development. By identifying causal variants located outside of protein-coding regions, the research aims to uncover the underlying genetic causes of these disorders. The approach involves advanced genomic techniques to pinpoint functional CRMs that regulate gene expression in specific tissues and developmental stages. This work is crucial for advancing precision medicine and improving treatment options for affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with genetic blood disorders or those with a family history of such conditions.
Not a fit: Patients with blood disorders that are not genetically based or those without a family history of genetic conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnosis and targeted therapies for childhood blood disorders.
How similar studies have performed: Previous research has shown success in identifying genetic variants associated with various diseases, suggesting that this approach could yield valuable insights as well.
Where this research is happening
MEMPHIS, UNITED STATES
- ST. JUDE CHILDREN'S RESEARCH HOSPITAL — MEMPHIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CHENG, YONG — ST. JUDE CHILDREN'S RESEARCH HOSPITAL
- Study coordinator: CHENG, YONG
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.