Genetic study of thousands of incurable children uncovers 60 new diseases

After ten years of research, 60 new genetic disorders and diseases have been discovered in thousands of people. Photo: File

London: A detailed study of thousands of children with rare and incurable hereditary conditions has revealed 60 new diseases, most of which are genetic.

A detailed comparison of the children and their parents has been published in the New England Journal of Medicine. The study, titled ‘Desiring Developmental Disorder’, lasted for about ten years. The well-known Singaporean Institute and other UK institutions have also participated in the research.

Although studying diseases at the molecular level is a long and laborious task, it has long-lasting benefits. A total of 13,500 children and their families from the UK and Ireland took part in the study.

Experts noted that a child with only one gene mutation or mutation showed severe disease. But despite all the research, no name was being given to his disease. But now, after a thorough examination of the DNA and genetic makeup of all the children and their families, 5,500 genes have been identified that are somehow responsible for the disease. Among them is a new disease called Turn Penny Fry Syndrome. It has slow physical growth, difficulty in learning and understanding, and a one-month-old baby girl has been diagnosed with Turnpenny Fry syndrome.

“We have discovered new genetic diseases and conditions, including 60 new diseases or disorders,” said Caroline Wright, head of the team of scientists. In this way, not only will we be able to treat these children better, but their families will also benefit.

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