New research into Down syndrome launched

Aims to improve understanding of immune system
  • Deborah Condon

Children with Down syndrome have an increased risk of infection and inflammatory conditions. However new Irish research has been launched, which aims to better understand the immune systems of these children, with a view to developing better therapies for them.

Down syndrome is a genetic disorder, which results in people being born with an extra chromosome. This extra chromosome leads to a number of physical and mental health issues.

Ireland has one of the highest prevalence rates of Down syndrome in the world. Around one in every 550 babies born here is affected.

CMRF Crumlin, which provides vital funding to paediatric research, has announced new funding for the National Children's Research Centre (NCRC), to carry out the DINOSAUR study (Down syndrome and ImmuNOdeficiency and Systemic And mUltiorgan Responses).

Down syndrome is currently the most common genetic syndrome associated with immune defects.

"Children with Down syndrome have an increased risk of infections, mortality from sepsis and autoimmune disorders such as hypothyroidism and coeliac disease. We want to advance understanding of the degree of immune dysregulation in Down syndrome and evaluate the inflammatory response in this vulnerable group. By understanding what causes weaker immune systems, we can take better steps to offering solutions," explained Lisa-Nicole Dunne, CEO of CMRF Crumlin.

According to Dr Dean Huggard of the NCRC, the study will check children's development and medical problems.

"A dysregulated inflammatory response in children with Down Syndrome may lead to poorer medical and developmental outcomes. To look at the immune system and its role in fighting infection, we will take a blood sample from each patient and examine the key regulators involved in upgrading and downgrading the response to inflammation.

"Other factors that influence the immune system will also be assessed in the laboratory, as possible methods to prevent or treat damaging inflammation," he noted.

He said that this study will allow ‘further understanding of the level of immune dysregulation and evaluate systemic inflammation in this group'.

"Ultimately, we wish to modulate inflammatory signalling during infection, which may prevent related complications.

"This research will also contribute to national guidelines on the management of children with Down syndrome, specifically in relation to immune dysfunction, vaccinations, and multi-organ outcomes. Support and resource information, as well as user-friendly clinical guidelines for primary care and local paediatricians, are to be developed using this clinical data," Dr Huggard added.

For more information on the NCRC, click here


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