Chicago Genetics and Genomics Core

Overview

The Genetics and Genomics Core of the DRTC has been in operation since 1977 with a major emphasis on molecular biology and recently genetics. This Core helps independently funded investigators with an interest in diabetes mellitus and other metabolic disorders to clone, sequence and characterize cDNAs and genes of interest. This Core provide research tools and expertise to enable investigators to discover how genetic variation in diabetes genes leads to hyperglycemia.

Objectives

The overall objective of this Core is to provide support of diabetes-related research projects by supplying cutting-edge technology and know-how in molecular biology and genetics. The specific objectives are:

• Advice and training in the design and conduct of genetic studies of diabetes and its complications
  • Advice on study design – genome-wide association studies, whole-exome and whole-genome sequencing
  • Power calculations
  • Sample collection strategies
  • Genotyping and sequencing strategies
  • Data analysis including data management and quality control
• Develop public databases of diabetes genes and associated mutations and variants
• Mutation analysis of monogenic diabetes genes (sample collection, DNA sequencing and analysis)
• Genotyping of diabetes-associated variants
• Advice, training and service in BAC recombineering for molecular biological studies

Services

Screening diabetic patients suspected of having maturity-onset diabetes of the young (MODY) for mutations in known MODY genes: glucokinase, hepatocyte nuclear factor (HNF)-1a, HNF-1ß, HNF-4a, insulin promoter factor-1 and NeuroD1.

The Core screens the known MODY genes (and any that may be identified in the future) as well as other diabetes-related genes for mutations. The user provides the Core with blood or DNA from the patient and the Core carries out the mutation screening. The Core provides the user with the mutation information and their interpretation.

Analyses of linkage (using both parametric and nonparametric approaches) and association.

The Core provides advice and assists users in analyzing genetic data including linkage analyses (both parametric and nonparametric analysis) using LINKAGE, GENEHUNTER, ALLEGRO, ASPEX, SPLINK and other software packages, and association using TDT and other methods. The Core also assists users in analyses of linkage disequilibrium. The Core carries out the analyses (including error checking) and provides the user with the results of those analyses and their interpretation.