Investigating how certain genes may affect brain development in autism and related disorders
Soma-to-germline Transformation in Neurodevelopmental Disorders?
This study is looking at how certain genes, usually only active in reproductive cells, might also affect brain function and behavior in people with autism and other neurodevelopmental disorders, focusing on a gene called KDM5C that’s linked to these conditions, to help find new treatments that work without disrupting normal brain activity.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-10985566 on NIH RePORTER |
What this research studies
This research explores the role of specific genes that are typically only active in reproductive cells but may also be expressed in brain cells in individuals with neurodevelopmental disorders like autism. By studying mouse models and human cells, the researchers aim to understand how these misexpressed genes could influence brain function and behavior. The project focuses on a particular gene, KDM5C, which is linked to intellectual disabilities and autism, to determine if its abnormal expression contributes to these disorders. The findings could lead to new drug targets that do not interfere with normal brain functions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with autism spectrum disorders or related neurodevelopmental conditions.
Not a fit: Patients without neurodevelopmental disorders or those whose conditions are not linked to chromatin regulation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to innovative treatments for neurodevelopmental disorders that specifically target the underlying genetic mechanisms.
How similar studies have performed: While the specific approach of targeting ectopic germline gene expression is novel, related research has shown promise in understanding genetic contributions to neurodevelopmental disorders.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Iwase, Shigeki — University of Michigan at Ann Arbor
- Study coordinator: Iwase, Shigeki
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.