Scientists discover genetic disorder that afflicts hundreds of thousands of people

Scientists discover genetic disorder that afflicts hundreds of thousands of people

“A genetic disorder that causes severe disabilities in children and adults has been discovered by researchers who believe the newly identified condition” affects “hundreds of thousands of people around the world,” reports The Guardian.

It is caused by mutations in a gene, RNU4-2, that results in a neurodevelopmental disorder, and mutant characteristics, such as large cupped ears and a downturned mouth. Until now, most people with a neurodevelopmental disorder have been unable to learn the cause of their disorder, which remains a mystery.

Identification of the disorder may open the door to development of gene therapies. It also may be a relief to mothers who wonder whether they did something wrong during pregnancy that caused their child’s birth defect. As The Guardian explains:

Scientists have already diagnosed hundreds of people in the UK, Europe and the US after examining their DNA and spotting mutations in the gene linked to the disorder. Far more are expected to be found as further testing takes place.

The condition causes severe developmental delay and many of those diagnosed are unable to speak, are fed through a tube and have seizures. The disorder produces characteristic facial features, such as large cupped ears, full cheeks and a mouth with downturned corners.

“It’s not unusual to discover a neurodevelopmental disorder, but it is incredibly unusual to discover one that is this common,” said Nicola Whiffin, an associate professor at the Big Data Institute and Centre for Human Genetics at the University of Oxford. “This is surprisingly frequent. There are a lot of questions as to why we haven’t seen this before.”

About 60% of people with a neurodevelopmental disorder (NDD) remain undiagnosed after comprehensive genetic testing, leaving them in the dark about the underlying cause….Identifying the RNU4-2 diagnosis was an important first step towards a better understanding of the underlying biology of the condition, and provided hope and a potential research path towards a therapy.

Medicine is improving in many ways. Gene therapies are being used to cure inherited blindness and deafness in some people. A virus is being used to cure deafness in a new gene therapy. A new gene therapy may cure sickle-cell anemia.

LU Staff

LU Staff

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