Understanding how JNK signaling affects autism and related neurodevelopmental disorders
Official title: Defining JNK-associated neurodevelopmental disorders
Funded at Children's Hosp of Philadelphia · NIH-11383141 · Data updated 2026-11-12
This grant studies how a cellular communication pathway called JNK affects brain development and may explain why some kids develop autism or intellectual disability.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | August 1, 2025 |
| Project end | July 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $221,400 |
| NIH project number | 5K08NS140553-02 |
| Project ID | NIH-11383141 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with neurodevelopmental disorders related to JNK pathway gene variations or pediatric patients whose condition may be linked to these pathways.
✕Less likely to help
Patients without JNK-related gene variants or who do not have neurodevelopmental disorders are less likely to benefit.
What this research studies
Researchers will use patient-derived stem cell models to see how changes in JNK pathway genes impact brain cell development. They will also look at a large collection of individuals with rare JNK-related gene variants to find new gene-disease links. The work aims to connect molecular changes to neurodevelopmental outcomes so future therapies can be more precisely targeted. This project focuses on conditions like autism and intellectual disability that begin early in life and can affect people across their lifespan. Results could eventually lead to better molecular diagnoses and personalized treatment ideas.
Why it matters
Potential benefit: If successful, the work could improve understanding of the molecular causes of autism and related disorders, guiding more accurate diagnoses and future targeted therapies.
How similar studies have gone: Preliminary findings show that JNK pathway genes can contribute to NDDs, suggesting this approach is promising but still early in development.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Nomakuchi, Tomoki T — Children's Hosp of Philadelphia
- Study coordinator: Nomakuchi, Tomoki T
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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.