Cell signals that shape nerve‑cell connections in autism
Rac-GEF signaling in dendritic spines
['FUNDING_OTHER'] · NORTHWESTERN UNIVERSITY · NIH-11408669
Researchers are looking at how certain signaling proteins control connections between nerve cells to help people with autism and related developmental conditions.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | NORTHWESTERN UNIVERSITY (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-11408669 on ClinicalTrials.gov |
What this research studies
This lab project focuses on proteins called Rho GTPases (especially Rac1) and their activating partners (GEFs like Kalirin and Trio) that shape tiny excitatory synapses on neurons. Using cellular and mouse models, the team will change these proteins or mimic patient-linked mutations to see how synapse number, size, and plasticity are altered. They will study models linked to fragile X and other neurodevelopmental disorder genes (for example TRIO, RAC1, and PAK1) to connect molecular changes to circuit and behavioral outcomes. The researchers will also test ways to normalize pathway activity in models to guide potential future treatments.
Who could benefit from this research
Good fit: This grant does not enroll patients now, but its results are most relevant to people with autism spectrum disorder, fragile X syndrome, or intellectual disability who might later join clinical trials or sample donation efforts.
Not a fit: People without neurodevelopmental disorders or whose conditions are unrelated to Rho GTPase signaling are unlikely to benefit directly from this preclinical work.
Why it matters
Potential benefit: If successful, this work could reveal molecular targets to restore healthy brain connectivity and point toward new treatments for autism, intellectual disability, and fragile X syndrome.
How similar studies have performed: Prior animal and molecular studies have linked Rho GTPase pathways to synaptic changes in autism and fragile X, but translating these findings into proven human treatments remains largely unachieved.
Where this research is happening
CHICAGO, UNITED STATES
- NORTHWESTERN UNIVERSITY — CHICAGO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PENZES, PETER — NORTHWESTERN UNIVERSITY
- Study coordinator: PENZES, PETER
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