Better heart-risk prediction for inherited high cholesterol
Official title: Improving Risk Stratification in Familial Hypercholesterolemia (RISK-FH)
Funded at Geisinger Clinic · NIH-11158873 · Data updated 2026-11-12
This project aims to give people with familial high cholesterol clearer, more personalized estimates of their future heart disease risk using genetic information, cholesterol measures, and other health factors.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Geisinger Clinic NIH-funded |
| Lab location | 1 site (Danville, United States) |
| Project start | July 1, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $738,991 |
| NIH project number | 5R01HL159182-04 |
| Project ID | NIH-11158873 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with diagnosed or suspected familial hypercholesterolemia—those with very high LDL-C or a family history of early heart disease—who can share medical records and genetic or blood-test data are the ideal candidates.
✕Less likely to help
People without inherited high cholesterol, those whose high LDL-C is clearly due to secondary causes, or those unwilling to provide genetic or health data may not benefit from this project.
What this research studies
This project sorts people with familial high cholesterol into four types: a single harmful gene change, many small genetic changes, very high lipoprotein(a), or no clear genetic cause. Researchers will combine genetic test results, LDL-C and Lp(a) levels, medical records, and demographic information to estimate each group's risk of heart attack and other atherosclerotic events. The team will also look at how age, sex, race/ethnicity, and access to care change that risk and will develop ways to explain risk clearly to patients and clinicians. The goal is to help you and your doctor make more informed, personalized decisions about prevention and treatment.
Why it matters
Potential benefit: If successful, this work could give patients more accurate, personalized heart-risk information that leads to better-targeted prevention and treatment.
How similar studies have gone: Prior research shows genetic testing and Lp(a) relate to heart risk, but combining FH subtypes into a practical, personalized risk tool is a newer approach.
Where this research is happening
-
Geisinger Clinic
Danville, United States Active
Researchers
- Principal investigator: Oetjens, Matthew — Geisinger Clinic
- Study coordinator: Oetjens, Matthew
Related research
Other NIH-funded projects on the same topics.
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Using behavioral nudges to improve family screening for inherited high cholesterol
This project uses two patient-facing approaches based on behavioral economics to help people with familial hypercholesterolemia get their relatives screened for the condition.
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Improving Risk Stratification for Familial Hypercholesterolemia (FH)
A patient-facing look at a study that aims to better predict who with familial hypercholesterolemia is at highest risk for early heart disease.
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Nonviral CRISPR-Cas9 delivery to liver cells to treat familial hypercholesterolemia
A new approach uses nonviral methods to deliver CRISPR-Cas9 to liver cells and select edited cells with acetaminophen, aiming to permanently lower bad cholesterol in people with familial hypercholesterolemia.
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Implementing multi-component approaches to help blood donors with familial hypercholesterolemia(
A program to help people who donate blood and have familial hypercholesterolemia get the cholesterol-lowering treatment they need through a blood-donation center.
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Helping families find and treat inherited high cholesterol
This project tests a clinic-based program to help primary care doctors find and treat children and adults with inherited high cholesterol (familial hypercholesterolemia).
-
Familial hypercholesterolemia: closing gaps in prevention of heart disease
A new NIH grant is exploring why people with familial hypercholesterolemia often go undiagnosed or receive uneven care, with the goal of improving early detection and prevention of heart disease.
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.