# Molecular Phenotyping and Genotyping Core

> **NIH NIH P30** · JOSLIN DIABETES CENTER · 2022 · $242,655

## Abstract

MOLECULAR PHENOTYPING AND GENOTYPING CORE: Abstract
The objective of the Molecular Phenotyping and Genotyping Core is to support Joslin and external investigators
in the study of molecular mechanisms of disease by providing equipment, expertise, and services in molecular
phenotyping and genotyping, with a focus on technology-intensive and high-density data analyses, which would
be too specialized or costly for individual laboratories to perform independently. One suite of services focuses
on multi-analyte characterization of samples from human studies and includes services for DNA extraction, SNP
genotyping, and genetic characterization of diabetes- and complications-related genes for clinical studies (next-
generation sequencing-based assay). A second suite of services provides equipment and expertise for analysis
of gene expression in cells and tissues including tissue homogenization, DNA shearing, Nanodrop
spectrophotometer, Bioanalyzer analysis of DNA/RNA, custom library preparation and facilitated access to
external sequencing facilities, and realtime and digital droplet PCR. The third suite of services assists
investigators in metabolic phenotyping by providing a Seahorse bioanalyzer for metabolic rate determinations
and a MALDI biotyper for identification and taxonomic classification of bacteria by high-throughput proteomic
analysis. In each of these areas, the Core provides training and consultations to facilitate understanding and use
of new methodologies by the Joslin community. Core staff work closely with Joslin’s institutional Bioinformatics
and Biostatistics Core staff to facilitate rigorous analytical pipelines for -omics data analysis and secure data
storage. The core is highly utilized, providing services to the majority of Joslin Research Base investigators, and
productivity is evidenced by numerous high impact publications that cite core use. In the present application, in
response to technological advances and the needs of our Research Base, we propose to enhance the Core’s
capacity to support study of the molecular mechanisms of disease by providing the following new and ehanced
services: 1) Single cell and single-nucleus RNA-sequencing; 2) expansion of the “genetic characterization for
clinical studies” service, with addition of newly-identified genes for monogenic DM, and new SNPs for T1D, T2D,
and complications; 3) automation of RNA extractions by acquisition of a Qiacube instrument; and 4) Integration
of the Core’s curated DNA collection with the Clinical Translational Research Core’s Biorepository. These new
initiatives, coupled with current services and training programs, will facilitate the access of Joslin investigators to
state-of-the art phenotyping and genotyping that are instrumental for both basic, translational, and clinical
research studies.

## Key facts

- **NIH application ID:** 10407760
- **Project number:** 2P30DK036836-36
- **Recipient organization:** JOSLIN DIABETES CENTER
- **Principal Investigator:** Alessandro Doria
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $242,655
- **Award type:** 2
- **Project period:** 1997-02-15 → 2027-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10407760

## Citation

> US National Institutes of Health, RePORTER application 10407760, Molecular Phenotyping and Genotyping Core (2P30DK036836-36). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10407760. Licensed CC0.

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