Understanding brain cell changes in neurodevelopmental conditions like ADHD and autism
Cytoskeletal pathways of cerebellar dysregulation in neurodevelopmental disorders
This research explores how a specific protein in brain cells, called beta-II-spectrin, contributes to conditions like ADHD, autism, and epilepsy in children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11175345 on NIH RePORTER |
What this research studies
We are looking into how changes in a protein called beta-II-spectrin, found in brain cells, might lead to developmental delays, intellectual disability, ADHD, autism, movement issues, and epilepsy. Our team recently found that changes in the gene for this protein are linked to these conditions in children. We are using advanced techniques to study how these protein changes affect brain cell function, especially in a part of the brain called the cerebellum, which is important for both movement and thinking. By understanding these changes, we hope to learn more about the root causes of these neurodevelopmental conditions.
Who could benefit from this research
Good fit: This foundational research is not directly recruiting patients but focuses on understanding conditions like ADHD, autism, and epilepsy, particularly those linked to changes in the SPTBN1 gene.
Not a fit: Patients not diagnosed with neurodevelopmental disorders or those whose conditions are not related to the SPTBN1 gene may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of the underlying causes of neurodevelopmental disorders, potentially guiding future development of new treatments.
How similar studies have performed: Our team has recently identified the link between SPTBN1 gene variants and a pediatric syndrome, making this a novel and important area of ongoing investigation.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Lorenzo, Damaris N — University of Pennsylvania
- Study coordinator: Lorenzo, Damaris N
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.