Investigating a gene's role in a new brain disorder linked to autism
ANKS1B haploinsufficiency in a novel brain disorder
This study is looking at how changes in a specific gene called ANKS1B might cause a new brain disorder linked to conditions like autism, and it's for people who have these gene mutations to help find better treatments in the future.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project ID | NIH-10914194 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic causes of a novel brain disorder associated with ANKS1B haploinsufficiency, which has been linked to neurodevelopmental disorders such as autism. By identifying patients with specific gene mutations, the study aims to uncover the molecular mechanisms that contribute to these disorders. The research involves clinical analyses and cellular studies to explore how the ANKS1B gene affects brain function and development. Ultimately, the goal is to identify potential therapeutic targets that could lead to new treatments for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with autism or other neurodevelopmental disorders who may have genetic mutations related to the ANKS1B gene.
Not a fit: Patients without neurodevelopmental disorders or those not carrying mutations in the ANKS1B gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies for neurodevelopmental disorders, improving outcomes for patients with autism and related conditions.
How similar studies have performed: Previous research has successfully identified genetic mutations linked to neurodevelopmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
Bronx, United States
- Albert Einstein College of Medicine — Bronx, United States (Active)
Researchers
- Principal investigator: Jordan, Bryen Alexander — Albert Einstein College of Medicine
- Study coordinator: Jordan, Bryen Alexander
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.