Understanding how specific gene mutations affect brain development
Modeling Histone Demethylase Function in Neurogenesis
['FUNDING_R21'] · UNIVERSITY OF WISCONSIN-MADISON · NIH-10527660
This study is looking at how a gene called KDM3B affects brain development and how changes in this gene might be linked to conditions like intellectual disability and autism, using special cells to learn more about what goes wrong and how we might help those who are affected.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF WISCONSIN-MADISON (nih funded) |
| Locations | 1 site (MADISON, UNITED STATES) |
| Trial ID | NIH-10527660 on ClinicalTrials.gov |
What this research studies
This research investigates the role of a gene called KDM3B in brain development, particularly how mutations in this gene can lead to neurological disorders like intellectual disability and autism. By using human embryonic stem cells with these mutations, researchers will study the differences in how these cells develop into neurons compared to normal cells. The goal is to uncover the cellular and molecular mechanisms that contribute to brain disorders, which could lead to better understanding and treatment options for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with known mutations in the KDM3B gene or those diagnosed with intellectual disabilities or autism spectrum disorders.
Not a fit: Patients without genetic mutations related to KDM3B or those not affected by neurological disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide insights into the causes of certain neurological disorders and pave the way for new therapeutic strategies.
How similar studies have performed: Previous research has shown that understanding gene function in neurodevelopment can lead to significant advancements in treating neurological disorders, indicating a promising avenue for this study.
Where this research is happening
MADISON, UNITED STATES
- UNIVERSITY OF WISCONSIN-MADISON — MADISON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SRIDHARAN, RUPA — UNIVERSITY OF WISCONSIN-MADISON
- Study coordinator: SRIDHARAN, RUPA
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: Brain Diseases, Brain Disorders, Encephalon Diseases, Intracranial CNS Disorders, Intracranial Central Nervous System Disorders