Children's Genetics Research

GenOMICC – Genetics of Mortality in Critical Care

Who is it for? Children with severe illness who are admitted to intensive care (ICU) with conditions including:

• COVID-19 (coronavirus)
• Influenza (flu)Respiratory syncytial virus (RSV) (a type of respiratory virus)
  
• Pancreatitis (inflammation of the pancreas)
• Pneumonia
• Burns
• Cellulitis (infection in the deeper layers of skin)
• and other emerging infections

Why? Our genes (or DNA) determine how vulnerable we are to critical illness. If we could find the genes that cause some people to be more vulnerable, we may be able to develop better treatments for patients in the future. To do this we need a single DNA sample from lots of critically ill patients with a range of selected conditions.

To find out more: contact your child’s Intensive Care consultant, or Research Nurse Rekha Patel 

Splicing and Disease

Who is it for? Children and adults with a condition that is believed to have a genetic component that may affect gene splicing.

You/ your child may not have had any gene testing so far, or else you/ your child may have had gene testing already, which has either produced negative or unclear results, or results that your clinician feels is the cause of your/ your child’s signs or symptoms but the underlying reasons why this causes signs and symptoms remains unclear.

Why? The aim of this study is to identify new gene faults and to understand which gene faults found during gene sequencing are disease causing. This will be done by looking to see if a gene fault affects splicing of the gene or of other genes. 

Finding which do will help make genetic testing possible for the disorder. This knowledge may eventually help in the management and treatment of these or other illnesses. Our research can also help understand how these genes normally work in the human body and brain.

To find out more: contact Clinical Genetics Consultant Prof Julian Barwell

There may be other genetics studies, which we haven’t listed here.

Please ask your Doctor about research that may be suitable for you or your child.

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