# Biochemical and Molecular Newborn Screening for Familial Hypercholesterolemia

> **NIH NIH R21** · UNIVERSITY OF WISCONSIN-MADISON · 2021 · $155,417

## Abstract

PROJECT SUMMARY
Atherosclerotic cardiovascular disease remains the leading cause of death in humans despite significant
advances in diagnosis and treatment. Familial hypercholesterolemia (FH) is a genetic disorder that leads to
markedly increased levels of low-density lipoprotein cholesterol (LDL-C) in the blood that are present from birth
and predispose affected individuals to early cardiovascular disease. FH affects 1 in 200-250 individuals, making
FH the most common potentially fatal genetic disease in humans. Half of all untreated men with FH die of
cardiovascular disease by age 55 and 15% of untreated women with FH die before 60 years of age. In the United
States, most individuals with FH are diagnosed based on their blood levels of LDL-C alone, although genetic
testing showing a disease-causing mutation in one of the genes known to cause FH is another way to make the
diagnosis. Despite widespread use of cholesterol testing, FH remains profoundly underdiagnosed with less than
10% of individuals with FH identified in most countries, including the United States.
The development of a tool to detect FH in the newborn represents an unprecedented opportunity to initiate early
treatment. Early diagnosis and treatment of FH is effective at preventing premature morbidity and mortality.
Additionally, identification of a young child with FH often leads to diagnosis of parents and other first-degree
relatives at risk, creating a positive cascade effect. For these reasons, multiple different screening strategies
have been designed to identify both children and adults with FH, but they have been of limited success.
Screening newborns for FH presents a potential opportunity for population-wide detection but has not been
systematically studied to date.
The aim of this study is to design a testing algorithm that can detect FH in the newborn population. Using
biochemical and molecular genetic tests and existing dried blood spots from discarded Wisconsin newborn
screening specimens, this study will assess a large group (10,000) of newborns for FH biochemical markers and
genetic mutations that cause FH. The biochemical markers, genetic data, and newborn demographic information
will be used to create a multifactorial model to predict FH in a given individual. Effective diagnosis of FH in the
newborn period, using an already existing and highly effective population screening tool, has the real potential
to dramatically change the natural history of a disease that currently exerts a devastating toll on our population.

## Key facts

- **NIH application ID:** 10218453
- **Project number:** 1R21HD102793-01A1
- **Recipient organization:** UNIVERSITY OF WISCONSIN-MADISON
- **Principal Investigator:** Amy LH Peterson
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $155,417
- **Award type:** 1
- **Project period:** 2021-05-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10218453

## Citation

> US National Institutes of Health, RePORTER application 10218453, Biochemical and Molecular Newborn Screening for Familial Hypercholesterolemia (1R21HD102793-01A1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10218453. Licensed CC0.

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