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Related Concept Videos

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

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Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
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Blood Studies for Cardiovascular System I: Cardiac Biomarkers01:20

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Cardiac biomarkers are enzymes, proteins, and hormones released into the blood when cardiac cells are injured. They are powerful tools for triaging.
The essential diagnostic tools for detecting myocardial necrosis and monitoring individuals suspected of having acute coronary syndrome (ACS) include:
Troponins
Troponins, particularly cardiac troponins I and T, are the most precise and sensitive markers of myocardial injury. They are detectable within 4-6 hours of myocardial injury and remain...
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Related Experiment Video

Updated: May 3, 2026

Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
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Biomarkers in rare diseases.

A Ferlini1, C Scotton, G Novelli

  • 1Section of Microbiology and Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

Public Health Genomics
|February 8, 2014
PubMed
Summary

Biomarkers are crucial for rare disease (RD) diagnosis and research, accelerating understanding and treatment. They are essential for personalized medicine and clinical trials in rare diseases.

Area of Science:

  • Biomarker research and development
  • Translational medicine
  • Rare disease genetics

Background:

  • Over 7,000 rare diseases (RDs) identified, yet 4,000 lack genetic diagnosis.
  • Genetic identification is vital for diagnosis, prevention, care standards, and clinical trial inclusion.
  • Biomarkers accelerate RD research by elucidating pathophysiological mechanisms.

Purpose of the Study:

  • To review biomarker types, importance, and translational applications in RDs.
  • To provide a comprehensive overview of current biomarker research and its clinical utility.
  • To highlight the role of biomarkers in advancing rare disease diagnostics and therapeutics.

Main Methods:

  • Literature review of current biomarker knowledge.
  • Analysis of data from specific websites and European Union (EU) sources.

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  • Inclusion of information on past, pending, and current EU projects, including BIO-NMD.

    • Main Results:

    • Biomarkers offer a pathway to speed up research and understand disease mechanisms.
    • Comprehensive scenario of biomarker research and applications in clinical practice.
    • Emphasis on translational research for diagnostics and clinical trials in RDs.

    Conclusions:

    • Biomarkers are key features in rare disease diagnostics and research.
    • Biomarkers will be widely utilized in translational and personalized medicine.
    • Advancements in biomarker discovery are critical for improving outcomes in rare diseases.