Understanding the genetic causes of congenital hydrocephalus
Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus
['FUNDING_R01'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-10833995
This study is looking into congenital hydrocephalus, a condition where fluid builds up in the brain, and it aims to find out if certain genetic changes are causing this, so we can better diagnose and treat people with this condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-10833995 on ClinicalTrials.gov |
What this research studies
This research investigates congenital hydrocephalus, a condition characterized by the enlargement of brain ventricles due to cerebrospinal fluid accumulation. The study aims to identify genetic mutations that contribute to this condition using whole exome sequencing, which allows researchers to analyze the entire coding region of genes. By uncovering the genetic basis of congenital hydrocephalus, the research seeks to improve diagnostic and therapeutic strategies for affected individuals. Patients may be involved in the study to help identify these genetic factors and understand their implications for treatment.
Who could benefit from this research
Good fit: Ideal candidates for participation include individuals diagnosed with congenital hydrocephalus or those with a family history of the condition.
Not a fit: Patients with congenital hydrocephalus caused by known environmental factors or those without a genetic component may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and targeted therapies for congenital hydrocephalus.
How similar studies have performed: Previous research using whole exome sequencing has successfully identified genetic causes in related conditions, suggesting a promising approach for this study.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: KAHLE, KRISTOPHER — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: KAHLE, KRISTOPHER
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.
Conditions: Brain Disorders, Encephalon Diseases, Intracranial CNS Disorders, Intracranial Central Nervous System Disorders, Brain Diseases