Understanding how rare genetic variants affect disease processes
Novel computational approaches to characterize the effects of rare functional outlier variants on cis- and trans-regulatory disease processes
['FUNDING_R21'] · CHILDREN'S MERCY HOSP (KANSAS CITY, MO) · NIH-10679055
This study is looking at how rare genetic changes can affect different diseases, helping patients understand how their unique genes might influence their health and treatment choices.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S MERCY HOSP (KANSAS CITY, MO) (nih funded) |
| Locations | 1 site (KANSAS CITY, UNITED STATES) |
| Trial ID | NIH-10679055 on ClinicalTrials.gov |
What this research studies
This research investigates the impact of rare genetic variants on various diseases by utilizing large-scale genomic datasets. It employs advanced computational and statistical methods to analyze these variants and their effects on gene expression and disease risk. By integrating diverse biological data, the research aims to systematically identify and characterize rare variants that significantly influence health outcomes. Patients may benefit from insights into how their unique genetic makeup could affect their disease risk and treatment options.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with complex diseases who may have rare genetic variants affecting their health.
Not a fit: Patients without complex diseases or those not carrying rare genetic variants may not receive any benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more personalized and effective treatment strategies for patients with complex diseases linked to rare genetic variants.
How similar studies have performed: Previous research has shown success in using similar computational approaches to identify significant genetic variants linked to diseases, indicating a promising avenue for this investigation.
Where this research is happening
KANSAS CITY, UNITED STATES
- CHILDREN'S MERCY HOSP (KANSAS CITY, MO) — KANSAS CITY, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SMAIL, CRAIG — CHILDREN'S MERCY HOSP (KANSAS CITY, MO)
- Study coordinator: SMAIL, CRAIG
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: Cardiovascular Diseases, cardiovascular disorder