Understanding Zfp423 in Joubert Syndrome and Related Conditions
Zfp423 Mechanisms in Joubert Syndrome and Related Disorders
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN DIEGO · NIH-11091471
This project explores how a specific protein, ZNF423, contributes to Joubert syndrome and similar conditions that affect brain development.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN DIEGO (nih funded) |
| Locations | 1 site (LA JOLLA, UNITED STATES) |
| Trial ID | NIH-11091471 on ClinicalTrials.gov |
What this research studies
This project uses cell and animal models to learn more about a protein called ZNF423, which plays a key role in how the brain develops. We know that changes in ZNF423 are linked to rare conditions like Joubert syndrome and nephronophthisis, which are part of a larger group called ciliopathies. These conditions often involve problems with tiny structures in cells called primary cilia, which are important for signaling. By understanding how ZNF423 works, especially its role in brain development and cell signaling, we hope to uncover new ways to help patients with these disorders.
Who could benefit from this research
Good fit: This foundational research is not directly recruiting patients but focuses on understanding the genetic causes of Joubert syndrome and nephronophthisis.
Not a fit: Patients not affected by Joubert syndrome, nephronophthisis, or related ciliopathies would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of Joubert syndrome and related ciliopathies, potentially identifying new targets for future treatments.
How similar studies have performed: This research builds upon existing knowledge of ZNF423 mutations in patients and mouse models, aiming to uncover novel regulatory mechanisms.
Where this research is happening
LA JOLLA, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN DIEGO — LA JOLLA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HAMILTON, BRUCE A — UNIVERSITY OF CALIFORNIA, SAN DIEGO
- Study coordinator: HAMILTON, BRUCE A
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: Autosomal Recessive Medullary Cystic Disease