How genes affect Alzheimer's signs in adults with Down syndrome
Heterogeneous genetics effects and mediation in Alzheimer's disease
['FUNDING_R21'] · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · NIH-11234280
This project uses new statistical and machine-learning approaches to find how gene differences, especially APOE, relate to amyloid buildup and Alzheimer's changes in adults with Down syndrome.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PITTSBURGH AT PITTSBURGH (nih funded) |
| Locations | 1 site (PITTSBURGH, UNITED STATES) |
| Trial ID | NIH-11234280 on ClinicalTrials.gov |
What this research studies
The team will analyze clinical, biospecimen, and brain imaging data from the Alzheimer’s Biomarker Consortium for Down syndrome (ABC-DS), the largest AD biomarker dataset in people with Down syndrome. They will apply Bayesian additive regression trees and other flexible machine-learning tools to capture individual differences in how APOE and other genetics influence amyloid-beta levels. The work also uses mediation methods to separate direct genetic effects from indirect effects that operate through common co-occurring conditions like sleep apnea, thyroid problems, and heart disease. Results aim to reveal who is most at risk and which intervening health problems might be driving cognitive decline.
Who could benefit from this research
Good fit: Adults with Down syndrome (typically age 21 and older), especially those enrolled in or able to join ABC-DS or similar biomarker and imaging studies, are the ideal candidates for participation or related future studies.
Not a fit: People without Down syndrome, those under age 21, or individuals whose Alzheimer's does not involve amyloid-related pathways are unlikely to benefit directly from this specific work.
Why it matters
Potential benefit: If successful, this work could help identify which people with Down syndrome are most likely to develop Alzheimer’s changes and point to medical conditions that might be treated to lower risk.
How similar studies have performed: Prior research has shown APOE influences amyloid and Alzheimer's risk, but applying Bayesian machine-learning and mediation methods specifically to Down syndrome biomarker data is relatively new.
Where this research is happening
PITTSBURGH, UNITED STATES
- UNIVERSITY OF PITTSBURGH AT PITTSBURGH — PITTSBURGH, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WANG, JIEBIAO — UNIVERSITY OF PITTSBURGH AT PITTSBURGH
- Study coordinator: WANG, JIEBIAO
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.