Investigating genetic variations linked to autism in brain cells
Cell-type specific and activity-dependent characterization of non-coding autism de novo variants in human stem cell-derived neurons
['FUNDING_FELLOWSHIP'] · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · NIH-11065514
This study is looking at how certain genetic changes might affect brain cells and contribute to autism, with the hope of finding better ways to diagnose and treat people with autism.
Quick facts
| Phase | ['FUNDING_FELLOWSHIP'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11065514 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding how specific genetic changes, known as de novo variants, contribute to autism spectrum disorder (ASD) by examining their effects in different types of brain cells derived from human stem cells. The researchers will analyze non-coding regions of the genome, which have been less studied but may play a crucial role in the disorder. By using advanced techniques to activate these cells, they aim to uncover how these genetic variants influence brain function and behavior. This could lead to better diagnostic tools and treatments for individuals with ASD.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who have been diagnosed with autism spectrum disorder.
Not a fit: Patients who do not have autism spectrum disorder or are older than 11 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could enhance our understanding of autism and lead to improved therapies and diagnostic methods for affected individuals.
How similar studies have performed: Previous research has shown promise in understanding genetic contributions to autism, but this approach focusing on non-coding variants is relatively novel.
Where this research is happening
NEW YORK, UNITED STATES
- ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WILLIAMS, SARAH ELIZABETH — ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- Study coordinator: WILLIAMS, SARAH ELIZABETH
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: autism spectral disorder, autism spectrum disorder, Autistic Disorder, autistic spectrum disorder