Understanding the causes of PACS1 Syndrome and its effects on brain development
Identifying pathogenic mechanisms underlying PACS1 Syndrome: implications for neural development
['FUNDING_R01'] · NORTHWESTERN UNIVERSITY AT CHICAGO · NIH-10896190
This study is looking into PACS1 Syndrome, a condition that affects brain development, to better understand how a specific gene change impacts thinking skills, and we invite patients and their families to join in by sharing their experiences and samples to help find new ways to treat it.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | NORTHWESTERN UNIVERSITY AT CHICAGO (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-10896190 on ClinicalTrials.gov |
What this research studies
This research investigates PACS1 Syndrome, a neurodevelopmental disorder caused by a specific genetic mutation. The study aims to uncover the molecular and cellular mechanisms that lead to cognitive impairments associated with this condition. By examining how the PACS1 protein functions in both the cytoplasm and nucleus, researchers hope to identify potential therapeutic targets for developing effective treatments. Patients and their families are encouraged to participate as their insights and biological samples could significantly contribute to understanding this disorder.
Who could benefit from this research
Good fit: Ideal candidates for participation include individuals diagnosed with PACS1 Syndrome or those exhibiting symptoms of neurodevelopmental disorders linked to the PACS1 gene.
Not a fit: Patients with neurodevelopmental disorders not related to PACS1 Syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to the development of disease-modifying therapies for PACS1 Syndrome and potentially other related neurodevelopmental disorders.
How similar studies have performed: Previous research has shown promise in understanding genetic contributions to neurodevelopmental disorders, indicating that this approach could yield valuable insights.
Where this research is happening
CHICAGO, UNITED STATES
- NORTHWESTERN UNIVERSITY AT CHICAGO — CHICAGO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: GUEMEZ GAMBOA, ALICIA DIONE — NORTHWESTERN UNIVERSITY AT CHICAGO
- Study coordinator: GUEMEZ GAMBOA, ALICIA DIONE
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: Autistic Disorder, Bipolar Disorder