# Discovery and Analysis Project

> **NIH NIH U54** · BAYLOR COLLEGE OF MEDICINE · 2020 · $2,500,000

## Abstract

Diabetes is traditionally classified in two broad categories: autoimmune Type 1 and obesity-related Type 2.
Numerous phenotypically and etiologically distinct forms exist and are emerging, collectively termed “atypical
diabetes” (AD), that do not fit into either category. We hypothesize that AD comprises a spectrum that includes
numerous forms, both known (e.g, MODY/monogenic, Latent Autoimmune Diabetes of Adults, Ketosis-Prone
Diabetes) and unknown. We propose to establish the Center for Atypical Diabetes Research and Evaluation
(CADRE). The goals of CADRE are to (1) identify and define comprehensively the forms of AD; and (2) establish
an extensive database and repository of biosamples from AD patients. Defining the forms of AD is challenging
because the etiology of AD can range from a single gene variant to a highly complex mixture of genetics,
epigenetics and environmental factors. To identify patients with AD, and then to define the forms, we will use a
two-pronged approach. Approach (a) will use clustering analysis of genotypic and phenotypic data from diverse
groups of patients with diabetes. We have recruited 15 domestic and international population cohorts with data
on more than 33,000 patients with diabetes. Further, we have recruited six diabetes study clinics (Baylor College
of Medicine [BCM], University of Washington [UW], Indiana University [IU], Emory University, University of
Colorado, and SUNY Downstate) who will prospectively recruit patients. The Juvenile Diabetes Research
Foundation will facilitate recruitment from patient groups. The Administrative Core at BCM will work with cohorts
and clinics to obtain data. The University of South Florida (USF) will filter data for AD and separate patients into
phenotypically homogenous clusters that can be diagnosed based on genetic and clinical features unique to the
cluster. Approach (b) will identify monogenic, oligogenic and mitochondrial forms of AD from patients enrolled in
genetics registries (BCM) and a family study with genetic data (Botnia). The BCM registries include patients
referred to the Undiagnosed Disease Network. All patients will undergo whole-exome and mitochondrial genome
sequencing (Cores at BCM), single-nucleotide polymorphism variant analysis (Oxford), metabolomic analysis
(Duke) and phenotypic analysis of C-peptide, adiponectin, proinsulin, islet autoantibodies, and serum insulin
DNA levels (Cores at UW and IU). To establish the database and biorepository, we will invite patients with AD
to participate in sample donation and longitudinal follow-up via the cohorts and clinics. Data and samples will be
transferred to the Database and Biorepository Core at USF, with input and tracking implemented using the
successful framework developed by USF for large multicenter trials. Data will be made available through the
NIDDK and a CADRE website and samples will be made available through ancillary study application. Ongoing
patient recruitment to expand the database and bior...

## Key facts

- **NIH application ID:** 9988408
- **Project number:** 5U54DK118638-03
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** ASHOK BALASUBRAMANYAM
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $2,500,000
- **Award type:** 5
- **Project period:** — → 2024-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9988408

## Citation

> US National Institutes of Health, RePORTER application 9988408, Discovery and Analysis Project (5U54DK118638-03). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/9988408. Licensed CC0.

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