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Two little girls who were suffering from mystery illness have now been diagnosed using genome screening.

The UK government has announced 100,000 Genomes Project, where the genes were analyzed to identify defects. These two girls were among the people who were screened in the project.


Georgia, a four-month-old girl had damaged eyes, kidneys and was unable to talk. Her parents were not able to get a solution for her condition.

‘Children suffering from mystery illnesses have been diagnosed with genetic diseases for the first time after taking part in the UK governments 100,000 Genomes project.’

Scientists at the Great Ormond Street Hospital (GOSH) conducted the genome screening where they took genes from Georgia and her parents. They found that she had a gene error called GLUT1 Deficiency Syndrome.

Currently, there is no treatment for this disease but the gene screening has made her parents happy because the scientists mentioned that the defect was not inherited.

Another girl, Jessica Wright suffers from a range of problems, including epilepsy and a squint and struggles to walk. After reading her DNA, they found that a gene key to ensuring her brain has enough energy was damaged.

But there is a treatment that could help her. A diet high in fat could provide an alternative source of fuel and there is a high chance it will work.

Professor Lyn Chitty, a clinician at GOSH and overall clinical lead for the project, said, “It’s really exciting to see the results coming through and the difference this can make for families. It increases confidence in the project and shows that the application of genomics can live up to the promise of changing the way we diagnose and treat patients in the future.”

Source: Medindia



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