Epigenetic approaches to treat autism linked to SHANK3/22q13
Epigenetics-Based Autism Treatment with Animal Models and Human Stem Cells
['FUNDING_R01'] · STATE UNIVERSITY OF NEW YORK AT BUFFALO · NIH-11290290
Seeing whether drugs that change gene-regulating 'epigenetic' marks can improve social interaction and reduce repetitive behaviors in people with autism, especially those with SHANK3/22q13-related forms.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | STATE UNIVERSITY OF NEW YORK AT BUFFALO (nih funded) |
| Locations | 1 site (AMHERST, UNITED STATES) |
| Trial ID | NIH-11290290 on ClinicalTrials.gov |
What this research studies
Researchers will use mice lacking the SHANK3 gene and neurons made from human stem cells to test drugs that raise specific histone methylation marks. They will measure mouse social and repetitive behaviors, record brain cell electrical activity, and examine molecular and genomic changes in brain tissue and cells. Lab work combines behavioral, biochemical, electrophysiological, and genomic methods to see if blocking the LSD1 enzyme restores gene expression linked to autism traits. Findings will guide whether these epigenetic drugs are promising candidates for future human studies.
Who could benefit from this research
Good fit: People with autism spectrum disorder, especially those known to have 22q13 deletions or SHANK3 mutations, would be the most relevant group for eventual clinical work stemming from this project.
Not a fit: This is preclinical lab research using mice and stem-cell lines, so it will not provide direct treatments or immediate benefits to patients now.
Why it matters
Potential benefit: If successful, this work could point to new drugs that improve social communication and reduce repetitive behaviors for people with SHANK3-related autism.
How similar studies have performed: Some preclinical research suggests epigenetic drugs can change gene expression and behavior in animal models, but clinical benefit in people with autism has not been established.
Where this research is happening
AMHERST, UNITED STATES
- STATE UNIVERSITY OF NEW YORK AT BUFFALO — AMHERST, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: YAN, ZHEN — STATE UNIVERSITY OF NEW YORK AT BUFFALO
- Study coordinator: YAN, ZHEN
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: 22q13 deletion syndrome, Autism Spectrum Disorder patient, Autistic Disorder