Familial genetic studies in people with diabetes
Research type
Research Study
Full title
Familial genetic studies in people with diabetes
IRAS ID
207840
Contact name
Nick Oliver
Contact email
Sponsor organisation
Joint Research Compliance Office
Duration of Study in the UK
4 years, 11 months, 30 days
Research summary
Maturity onset diabetes of the young (MODY) is an uncommon but frequently misdiagnosed form of diabetes that is caused by a mutation in one of ~14 different genes. MODY is frequently misdiagnosed as type 1 or type 2 diabetes, but is important to identify as its management differs. For example, some forms of MODY require no treatment at all, whilst in others insulin treatment may be stopped and diabetes treated with tablets alone. Making a diagnosis of MODY also has implications for other family members who may have inherited the same mutation.
There are a proportion of people with young-onset diabetes who have suspected MODY based on clinical and biochemical features, but when testing of known MODY genes is undertaken, no mutation is found. These people (often categorised as MODY X) likely have a mutation in an as yet unidentified gene. Trying to find new MODY genes is challenging and requires the genetic study of families with strong histories of diabetes occurring at relatively young age.In this study, we aim to undertake whole genome sequencing (study of someone’s entire DNA sequence) in people with diabetes and will compare it to their relatives’ DNA sequence or someone else’s sequence with a similar presentation. By comparing members of the same family we will be able to separate normal changes in DNA (the changes that make us all different to one another) to a potential mutation (a change in DNA sequence that causes a disease) in a new gene.
We will invite participants, along with family members, to a single 30 minute visit to answer questions about their diabetes history and have a blood test taken. For people unable to attend our research clinic, we will ensure a DNA sample can be provided remotely, should they wish to participate.
REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
16/LO/1595
Date of REC Opinion
28 Oct 2016
REC opinion
Further Information Favourable Opinion