Exploring how 3D genome organization affects Down syndrome
Beyond Gene Dosage: Understanding Down Syndrome via 4D Genome Organization
['FUNDING_U01'] · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · NIH-10911808
This study is looking at how having an extra chromosome 21 affects the way genes are organized and work in the brain of people with Down syndrome, with the hope of finding new ways to help improve their health and understanding of their condition.
Quick facts
| Phase | ['FUNDING_U01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON (nih funded) |
| Locations | 1 site (HOUSTON, UNITED STATES) |
| Trial ID | NIH-10911808 on ClinicalTrials.gov |
What this research studies
This research investigates the impact of an extra chromosome 21 on the 3D organization of the genome in individuals with Down syndrome. By using advanced techniques like in situ Hi-C and ATAC-seq, the team will analyze how this chromosomal abnormality alters gene expression and cellular interactions in brain cells. The goal is to uncover the underlying mechanisms that contribute to cognitive impairment and other health issues associated with Down syndrome, particularly the risk of early-onset Alzheimer's disease. Patients may benefit from a better understanding of their condition and potential new therapeutic approaches.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Down syndrome, particularly those experiencing cognitive challenges or early signs of Alzheimer's disease.
Not a fit: Patients without Down syndrome or those who do not exhibit cognitive impairment may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments and interventions for individuals with Down syndrome and related cognitive impairments.
How similar studies have performed: While the exploration of 3D genome organization in Down syndrome is a relatively novel approach, previous studies have shown promising results in understanding chromosomal abnormalities and their effects on gene regulation.
Where this research is happening
HOUSTON, UNITED STATES
- UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON — HOUSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LI, WENBO — UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON
- Study coordinator: LI, WENBO
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: Alzheimer disease dementia, Alzheimer syndrome, Alzheimer's Disease