How overlapping DNA switches help embryos develop correctly
Mechanisms of shadow enhancer robustness during development
['FUNDING_R01'] · BOSTON UNIVERSITY (CHARLES RIVER CAMPUS) · NIH-11300247
This work looks at how sets of overlapping DNA switches called shadow enhancers keep development on track and how changes in them might relate to conditions like autism.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BOSTON UNIVERSITY (CHARLES RIVER CAMPUS) (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11300247 on ClinicalTrials.gov |
What this research studies
Researchers are comparing shadow enhancers across fruit flies, mice, and human genetic data to find features that make gene activity robust to stress and mutation. In animals they will alter environmental conditions and introduce genetic changes to see when development still succeeds or fails. They will then search human datasets for similar non-coding changes that, together with stress, could perturb gene expression linked to neurodevelopment. The goal is to connect basic enhancer mechanisms to why some DNA changes contribute to developmental disorders.
Who could benefit from this research
Good fit: Ideal participants would be people or families affected by autism who are willing to share genetic data or biospecimens for comparison to animal and human enhancer patterns.
Not a fit: Patients seeking immediate treatments or symptom relief should not expect direct benefit from this laboratory-focused work.
Why it matters
Potential benefit: If successful, this could clarify why some non-coding DNA changes contribute to developmental disorders like autism and help identify genetic risk markers or future intervention points.
How similar studies have performed: Previous case studies in fruit flies and mice show shadow enhancers can buffer development under stress, but applying those findings to human developmental disorders is still in early stages.
Where this research is happening
BOSTON, UNITED STATES
- BOSTON UNIVERSITY (CHARLES RIVER CAMPUS) — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WUNDERLICH, ZEBA B — BOSTON UNIVERSITY (CHARLES RIVER CAMPUS)
- Study coordinator: WUNDERLICH, ZEBA B
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: Autistic Disorder