Skip to navigation Skip to main content Skip to footer

Approved Research

Whole exome sequencing to identify rare variants in autoinflammatory disease

Principal Investigator: Dr Daire O'Leary
Approved Research ID: 80917
Approval date: February 22nd 2022

Lay summary

We are studying two rare diseases which are caused by autoinflammation.  Autoinflammation is when parts of our bodies become inflamed without a good reason.  When it happens, we can get pain or swelling or redness or rashes where there is inflammation.  We are trying to find the genes which cause these diseases.  If we can understand why these diseases happen, then we will be able to provide better treatments.

The first disease is called chronic nonbacterial osteomyelitis or CNO.  Bones become inflamed and painful.  It can happen in any bone in the body.  It usually happens in children and teenagers and it can make it hard to go to take part in normal activities.  It can also stop a bone from growing properly which can lead to one leg being longer than the other or the spine (backbone) becoming curved.  We have looked at the genes of a group of children and teenagers with CNO.  Now we are going to compare the changes we found in these children's genes to some of the information in the UK Biobank.  The information in the UK Biobank is very helpful for comparing these changes because we can make sure we're comparing like with like.  We want to make sure that the children with CNO and the people without CNO in the Biobank are the same ethnicity because we know that changes in genes sometimes happen more often in one ethnicity than another.

The other disease is called Behcet disease.  We have looked at the genes of some families where a few people in the family have Behcet disease.  We have found some changes which seem to cause the disease in these families.  We want to see if these changes might also cause the disease in other, unrelated people with Behcet disease.  If they do cause the disease in other people with Behcet disease, this will help us to understand why this disease happens.

We will do this research using the UK Biobank data about health outcomes, ethnicity and genetics.  This valuable resource will allow us to compare our small group of people with these diseases with much larger groups of people, with or without the disease.