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Updated: May 27, 2025

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
Published on: July 5, 2022
[Early diagnosis of type 1 diabetes : a step towards precision medicine]
Vivien Glocker1, Philippe Klee1,2, Michael Hauschild3
1Unité d'endocrinologie et diabétologie pédiatriques, Service de développement et de croissance, Département de pédiatrie, gynécologie et obstétrique, Hôpitaux universitaires de Genève, 1211 Genève 14.
Insights
Type 1 diabetes (T1D) is a common childhood metabolic disorder. Advances in genetics and screening enable early prediction, prevention, and treatment, with new drugs delaying T1D onset.
Area of Science:
- Endocrinology and Metabolism
- Immunology
- Genetics
Context:
- Type 1 diabetes (T1D) is the most prevalent metabolic disorder in pediatric populations.
- T1D progresses through three distinct stages, facilitating preclinical diagnosis.
- Genetic and screening advancements are revolutionizing T1D prediction, prevention, and treatment.
Purpose:
- To highlight the significance of distinct T1D subtypes in understanding disease mechanisms.
- To underscore the role of genetic variations, including HLA and non-HLA variants, in T1D risk.
- To emphasize the impact of early diagnosis on implementing secondary prevention strategies.
Summary:
- Identification of T1D subtypes reveals genetic, clinical, and immunological diversity.
- High-risk genetic factors like HLA-DR3 and HLA-DR4-DQ8, and non-HLA variants are implicated.
- These genetic regions are also associated with other autoimmune conditions.
Impact:
- Early T1D diagnosis facilitates secondary prevention.
- Teplizumab, a novel therapeutic, is approved for delaying T1D onset in stage 2 patients.
- Research deepens understanding of T1D's complex etiology and heterogeneity.
Abstract:
Type 1 diabetes (T1D) is the most common metabolic disorder in children. It progresses through three distinct stages, which are now utilized for preclinical diagnosis. Advances in genetics and screening techniques are enhancing the prediction, prevention, and treatment of the disease. The identification of different T1D subtypes has deepened our understanding of the disease's underlying mechanisms, reflecting genetic, clinical, and immunological diversity. Key genetic variations, including high-risk HLA haplotypes such as DR3 and DR4-DQ8, alongside non-HLA variants. Many of these genetic risk regions are also linked to other autoimmune diseases. Early diagnosis enables secondary prevention strategies, notably with teplizumab, the first approved drug for delaying T1D onset, already in use for stage 2 patients in the USA.
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