Finding DNA copy number changes linked to Alzheimer's from whole-genome data
Copy Number Variation Identification and Association Study on Alzheimer's Disease Whole Genome Sequencing Data
['FUNDING_R01'] · UNIVERSITY OF PENNSYLVANIA · NIH-11169711
Researchers will look for pieces of DNA that are duplicated or missing in people with Alzheimer's and those at risk to learn how genetics may affect the disease.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11169711 on ClinicalTrials.gov |
What this research studies
You would be asked to share a blood or saliva sample or allow access to your whole-genome data so researchers can search for copy number variants (CNVs), which are chunks of DNA that are missing or duplicated. Scientists will scan the entire genome to find CNVs of different sizes and frequencies, both inside and outside genes, and compare people with Alzheimer's to those without. They will use large Alzheimer's whole-genome datasets and modern algorithms to link CNV patterns to disease risk, symptoms, and subtypes. The goal is to better define genetic types of Alzheimer's and point to markers that could be used for prediction or new treatments.
Who could benefit from this research
Good fit: Ideal candidates are people with Alzheimer's disease or related dementia, or people at risk who can provide genetic samples or allow sharing of their whole-genome data.
Not a fit: Patients seeking immediate treatment changes or those with dementia caused solely by non-genetic factors are unlikely to receive direct clinical benefit from this genetic discovery research.
Why it matters
Potential benefit: If successful, this work could identify genetic markers that improve risk prediction and reveal new targets for Alzheimer's treatments.
How similar studies have performed: Previous studies have found some CNVs linked to Alzheimer's, but comprehensive whole-genome CNV searches remain relatively new and exploratory.
Where this research is happening
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LEE, WAN-PING — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: LEE, WAN-PING
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 1 Protein, Alzheimer Disease Protease Nexin-II, Alzheimer disease dementia, Alzheimer syndrome, Alzheimer's Disease