DNA Project Produces First Diagnoses for Children with ‘Mystery’ Illnesses

January 12th, 2016
DNA Project Produces First Diagnoses for Children with ‘Mystery’ Illnesses

A large-scale project to analyse and evaluate DNA has produced its first diagnoses. The 100,000 Genomes Project was launched to try and provide answers for people like Amanda and Matt Walburn-Green, whose daughter Georgia has been battling a mystery illness for the last four years.

When Georgia, who is now four years old, was born, ecstasy quickly turned into despair for her parents, as doctors needed to investigate the cause of her abnormally large head. Initially, the team thought there must be fluid on Georgia’s brain, but investigations ruled this out and now, the results of extensive research as part of the 100,000 Genomes Project has provided the family with some information pointing to a diagnosis.

Georgia is one of the first children to be provided with specific information related to genetic abnormalities that cause ‘mystery symptoms’. In her case, she was displaying symptoms such as poor kidney function and damaged eyes. For the last few years, Amanda and Matt have struggled with the uncertainty surrounding Georgia’s future. She has not grown as quickly as other children her age, struggles with her sight and doesn’t communicate, although she shows great determination and desire to get her point across. Just before Christmas, Amanda and Matt were informed that a genetic fault had been found during research carried out by scientists at Great Ormond Street Hospital.

The research team, which analysed the 3 million base pairs in the three family members’ DNA, identified a fault on the KDM5b gene. Amanda said the day the diagnosis was made was one of the most important days of her life so far – not only does the information enable greater insight into Georgia’s health and development in the future, it also provides information for researchers working on potential treatments and therapies. It is also confirmed that the mutation was spontaneous rather than inherited, which means there is no elevated risk associated with having another child, a decision Amanda and Matt had put on hold.

Jessica is another child already feeling the benefits of the extensive project. After years of undergoing inconclusive tests for repeated epileptic seizures, scientists have now identified a mutation that contributes to GLUT1 deficiency syndrome, which prevents sugar from being carried to the brain cells. Now, thanks to the information provided by scientists working on the 100,000 Genomes Project, Jessica is being treated with a ketogenic diet and doctors have been able to reduce her dosage of epilepsy medication.

Lead researcher professor Lyn Chitty said it is exciting to see the results of the research making a positive difference to families. The project is now benefiting children and has already been used to identify genetic faults in adults.

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