Genetics of Type 1 Diabetes in Children
Protocol: STUDY00003936
Full Title
Investigations Into the Genetics of Type 1 Diabetes
Description
This study enrolls children ages 2-18 who have been newly diagnosed with type 1 diabetes. The purpose of this study is to understand why children may get diabetes. By understanding
how and why genes contribute to diabetes, we can better understand what causes the disease.

You will be in this study for about how long it takes to draw blood in one visit. You will only give one blood sample. We will then use this sample to our laboratory to study the white blood cells and DNA it contains.

Study takes place at Oishei Children’s Hospital.

Technical Description

To identify promising targets of therapy in type 1 diabetes by identifying the target genes of genetically-altered enhancers.We will use ChIPseq to identify strong (H3K27ac) and weak (H3K4me1) enhancers within CD4+ T cells of children with newly diagnosed T1D. We will genotype these same patients using the Illumina Omni 2.5 genotyping platform, followed by standard computational techniques to impute additional variants; this approach allows us to identify gt;9,000,000 variants in these subjects. Using the combined haplotype test, we will then identify histone quantitative trait loci (hQTLs) in the T1D CD4+ T cells, i.e., regions where there is allelic imbalance in the number of reads on the ChIPseq data. We will also use RNAseq to aid in identifying genes whose expression levels are altered by the genetically-altered enhancers.
The next steps of this study will then be accomplished using human cell lines and in vitro techniques. We will identify the variants within the hQTLs that have the strongest effects on gene expression using a massively parallel reporter assay. We will then use our knowledge of the chromatin architecture as well as results of the RNAseq data to identify the gene targets of the expression-modifying variants. We will also accomplish this step in human cell lines using RNA-guided epigenome editing.
Compensation: Yes
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Compensation may include cash, checks, gift cards, debit cards, or incentives like gift baskets, technology items, or merchandise.
Eligibility
Children ages 2-18.
Newly diagnosed with type 1 diabetes (diagnosed within about the last two weeks).
Any metabolic derangements caused by diabetic ketoacidosis have resolved.
Age Group: Children
Principal Investigator: JAMES JARVIS
Contact(s)
JAMES JARVIS
jamesjar@buffalo.edu
+1 716-888-4796
Want to Learn More?
Let us know how the study team can reach you. If you do not hear back within 2 business days, reach out to the study team directly at the contact information above or email ctsiresearch@buffalo.edu and someone will assist you.