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

ABSTRACT:

Objective

The Rare and Atypical Diabetes Network (RADIANT) will perform a study of individuals and, if deemed informative, a study of 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

Among 122 with WGS results of 878 enrolled individuals, a likely pathogenic variant in a known diabetes monogenic gene was found in 3 (2.5%), and six 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 insu

SUBMITTER: RADIANT Study Group 

PROVIDER: S-EPMC10234756 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature