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Updated: Apr 9, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
What defines disease in an age of genetics and biomarkers?
1Pediatrics and Medicine, Barbara Davis Center for Childhood Diabetes, University of Colorado, Aurora, Colorado, USA.
Purpose Of Review:
The purpose of this review was to discuss the evidence suggesting that our definition of type 1 diabetes (T1D) needs to change to incorporate new data about risk of disease and how we should intervene in this wider spectrum of disease.
Recent Findings:
Autoantibodies can predict the development of T1D within defined periods of time. Other biomarkers are being developed that may further characterize stages of disease, as well as help define new pathways for treatment to prevent the development of hyperglycemia and full-blown diabetes.
Summary:
We have entered a new age in which prevention of disease is now possible based on changing the definition of diabetes to one that incorporates immunological markers that bring with them high risk. Further advances in our knowledge will continue to refine our ability to predict and hopefully eventually prevent T1D.
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