The UK government announced 100,000 Genomes Project and these two girls were among the people who were screened to identify defects.

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




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.
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Source-Medindia