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Approved Research

Monogenic diabetes misdiagnosed as type 1 or type 2 diabetes (T1D or T2D)

Principal Investigator: Professor Constantin Polychronakos
Approved Research ID: 65776
Approval date: January 12th 2021

Lay summary

Type 1 and type 2 diabetes are diseases involving mutations in many genes.  In some cases, a simpler form involving a single gene gives similar symptoms and is misdiagnosed as type 1 or type 2 diabetes.  That single gene form is often treatable with a pill instead of having to do several injection per day.  Being able to identify these individuals and having a better strategy to pinpoint them will change their lives.  In this study, we will look at the sequence of the genome of individuals that were diagnosed as type 1 or type 2 diabetes and find mutations that are likely to cause symptoms that looks like these disease (high glucose in the blood).