Juvenile arthritis and diabetes in childhood
First published on 18 February 2010
Updated on 18 November 2014
What did the project achieve?
“We set out to investigate what causes two diseases that affect thousands of children in the UK,” explains Dr Colin Veal of the University of Leicester.1,2 “Children with the first disease, juvenile idiopathic arthritis, or JIA, experience disabling stiffness, pain and swelling in their joints. Children with the second disease, type 1 diabetes, rely on life-saving injections of the hormone insulin.”
The primary cause of both diseases is unclear, which hampers efforts to develop new treatments.
“We have found that a change in children’s DNA, called a copy number variation or CNV, might alter their susceptibility to developing JIA,” says Dr Veal. “We plan to investigate how this change leads to the symptoms of arthritis, which could eventually enable us to develop new treatments.”
“Although preliminary evidence suggested this CNV might also be linked to type 1 diabetes, we did not find such a link,” continues Dr Veal.
The researchers made technological breakthroughs during this work that have made CNVs much easier to study. The impact of these breakthroughs could be far reaching, as CNVs are thought to have a major influence on our susceptibility to many different diseases. Indeed, the team has already moved on to study the role of CNVs in Alzheimer’s disease, breast cancer and Huntingdon’s disease, with early results being very promising.
1. JDRF. FAQs about type 1 diabetes. http://www.jdrf.org.uk/life-with-type-1-diabetes/faq-about-type-1-diabetes Website accessed 4 July 2014.
2. Arthritis care. Arthritis in children. http://www.arthritiscare.org.uk/AboutArthritis/Conditions/AboutArthritis... Website accessed 4 July 2014.
This research was completed on 31 January 2012
Researchers are using cutting-edge techniques to investigate the genetic causes of two diseases that blight the lives of thousands of children in the UK: juvenile idiopathic arthritis (JIA), a disabling illness that causes painful swelling of the joints, and type 1 diabetes, which leaves children dependent on life-saving injections of the hormone insulin. The researchers believe their work may eventually lead to new diagnostic tests, treatments and possibly even preventative therapies.
What's the problem and who does it affect?
Long-term illness in childhood
This project is tackling two diseases that both cause long-term suffering in large numbers of children: juvenile idiopathic arthritis (JIA) and type 1 diabetes.
Around one in every 1,000 children in the UK has JIA – that’s about 10,000 children altogether.1,2 They suffer stiffness, pain and swelling in their joints, often their knees, ankles and wrists. Some also suffer fever and lethargy. The children are at risk of developing inflammation in their eyes and other organs, and heart and growth problems.
An estimated 350,000 people have type 1 diabetes in the UK.3 Half of all new cases are in children younger than 15 years of age,4 and the number of children affected is increasing alarmingly.5 Children with type 1 diabetes rely on life-saving injections of the hormone insulin – often two to four times a day. Sadly, they are at risk of developing long-term complications in later life, such as blindness, kidney failure and heart disease.
There are still many gaps in our knowledge about JIA and type 1 diabetes. We do not know what causes most cases of these illnesses, or why some children are affected while others are not. This is hampering efforts to develop better treatments.
What is the project trying to achieve?
Finding genetic changes
The researchers are hoping to pinpoint genetic factors that can influence a child’s susceptibility to JIA and type 1 diabetes. They are concentrating on a type of genetic variation called copy number variation.
The copy number of a gene denotes how many copies we have of that gene in our genetic material – our DNA. The copy number is usually two, though for some genes the copy number can vary between individual people. Increases or decreases in the copy number of some genes can lead to disease.
In this project, the researchers are focusing on a specific region of DNA that seems to have links with rheumatoid arthritis – copy number changes within it can protect against rheumatoid arthritis. The researchers are characterising the precise structure – or sequence – of this region of DNA. They are developing cutting-edge techniques to test for differences in copy number that occur within the region.
The researchers are also finding out whether any of the copy number changes have links with JIA and type 1 diabetes, using samples of DNA taken from around over 1,000 children with JIA and over 5,000 people with type 1 diabetes.
What are the researchers' credentials?
|Project Leader||Professor A J Brookes MBBCh|
|Location||Department of Genetics, University of Leicester|
|Grant awarded||18 November 2009|
|Start date||1 February 2010|
|End date||31 January 2012|
|Grant code||SP4483, GN1758|
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The experienced project team forms part of the pre-eminent Genetics Department at the University of Leicester. The department is particularly strong in fundamental genetics. For example, researchers there discovered and developed the revolutionary technique of DNA fingerprinting. With previous funding from Action Medical Research, the project team overcame many technical hurdles to identify for the first time how genetic changes in the number of genes people carry can protect against rheumatoid arthritis.
The excellent resources at the department have recently been boosted by millions of pounds worth of investment in the genomics facilities. The department also has great strengths in genetics education, both for students and the public - empowered by winning £4.75M to develop a national Centre of Excellence in Teaching and Learning (CETL) in genetics.
The researchers are working with leading collaborators who have first-rate clinical expertise and access to thousands of samples donated by patients over many years.
Who stands to benefit from this research and how?
Improving diagnosis and treatment
The researchers are looking for genetic factors that affect a child’s chances of developing JIA or type 1 diabetes. They hope to boost understanding of what causes both diseases, so children and their families can get better information on why they have been affected. At the moment, risk factors remain largely unknown.
If successful, the researchers believe their work could quickly lead to new diagnostic tests, which could allow children to get earlier diagnoses and more appropriate treatment. Using the tests in newborns could help identify babies who are at risk of developing JIA and type 1 diabetes in the future.
Ultimately, the research could also lead to new treatments and possibly even preventative therapies for JIA and type 1 diabetes. The lessons learned could also prove useful in tackling other diseases that result from similar genetic factors.
JIA and type 1 diabetes are both long-lasting illnesses that can significantly affect day-to-day life, including schooling. About one third of children with JIA find their disease persists into adulthood. Once children have developed type 1 diabetes, they are all affected for the rest of their lives, and life expectancy is reduced by 20 years.6 Better treatments are urgently needed.
- McCann LJ, Wedderburn LR, Hassan N. Juvenile idiopathic arthritis. Arch Dis Child Educ Pract Ed 2006; 91:ep29-ep36.
- National Institute for Health and Clinical Excellence (NICE). Guidance on the use of etanercept for the treatment of juvenile idiopathic arthritis (TA35). March 2002. http://guidance.nice.org.uk/TA35/Guidance/NeedandPractice_1
- Juvenile Diabetes Research Foundation. Annual Review 2008-9.
- Williams, G. and Pickup, J. (2004) Handbook of Diabetes. Massachusetts, Blackwell Publishing.
- Patterson CC, Dahlquist GG, Gyurus E, Green A & Soltesz G. Incidence trends for childhood type 1 diabetes in Europe during 1989-2003 and predicted new cases 2005-20: a multicentre prospective registration study. Lancet 2009; 373: 2027-33.
- Kanters et al “Incidence and determinants of mortality and cardiovascular events in diabetes mellitus: a meta analysis”. Vascular Medicine 1999; 4:67-75.