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DC22-2440.R1 Online-Only_Supplemental_Material_revised_12-19-22_revised.pdf (385.45 kB)

The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results

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Version 2 2024-02-02, 14:47
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posted on 2024-02-02, 14:47 authored by Jeffrey P. Krischer, the RADIANT Study Group

  

Objective: The Rare and Atypical Diabetes Network (RADIANT) will study individuals and, if deemed informative, their family members with uncharacterized forms of diabetes.

Research Design and Methods: The protocol includes genomic (whole genome (WGS), RNA and mitochondrial sequencing), phenotypic (vital signs, biometric measurements, questionnaires and photography), metabolomics and metabolic assessments.

Results: In 122 of 878 enrolled individuals with WGS results, a likely pathogenic variant in a known diabetes monogenic gene was found in 3 (2.5%) and 6 new monogenic variants have been identified in the SMAD5, PTPMT1, INS, NFKB1, IGF1R, and PAX6 genes. Frequent phenotypic clusters are lean type 2 diabetes, autoantibody negative and insulin deficient diabetes, lipodystrophic diabetes, and new forms of possible monogenic or oligogenic diabetes.

Conclusions: The analyses will lead to improved means of atypical diabetes identification. Genetic sequencing can identify new variants and metabolomics and transcriptomics analysis can identify novel mechanisms and biomarkers for atypical disease. 

Funding

U.S. Department of Health and Human Services > National Institutes of Health > National Institute of Diabetes and Digestive and Kidney Diseases U54 DK118612 U54 DK118638

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