Jul 12, 2024 06:44 PM
(This post was last modified: Jul 12, 2024 07:02 PM by C C.)
Scientists uncover genetic disorder that may affect thousands around world
https://www.theguardian.com/science/arti...ound-world
INTRO: A genetic disorder that causes severe disabilities in children and adults has been discovered by researchers who believe the newly identified condition could affect hundreds of thousands of people around the world.
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... (MORE - missing detail)
PAPER: https://www.nature.com/articles/s41586-024-07773-7
First 3D fossil chromosomes discovered in freeze-dried mammoth skin
https://www.nature.com/articles/d41586-024-02253-4
EXCERPTS: On the frozen tundra of Siberia some 50,000 years ago, a woolly mammoth met its end under mysterious circumstances. In samples of the animal’s skin, researchers have now discovered chromosomes preserved in their original 3D configuration — a feat previously thought impossible in ancient-DNA research.
[...] The researchers proposed that mammoth chromosomes had been preserved in a glass-like state through a dehydration process similar to that used to produce beef jerky. That technique results in tissue in which DNA molecules are densely packed and immobile.
The team’s experiments on freeze-dried beef jerky, which was subjected to extreme tests including being shot with a gun and run over with a car, confirmed the researchers’ theory: the jerky shattered like glass but its chromosomes remained intact.
“In absolutely no way would one think that [ancient] DNA stays in its shape,” says Víctor Moreno Mayar, a specialist in ancient populations genomics at the University of Copenhagen, who was not involved in the study. Seeing that it can “is really cool”, he says.
The findings suggest that the potential for recovering ancient DNA extends beyond what was previously thought possible, as long as the conditions are ideal, Moreno Mayar says.
The approach in the paper could also help researchers to assemble a complete mammoth genome, says Eriona Hysolli, head of biological sciences at Colossal Biosciences, a biotechnology firm in Dallas, Texas, that is working to resurrect the woolly mammoth.
Hysolli, who wasn’t involved in the study, says that a full mammoth genome could help to reveal features that might be relevant to the company’s bold plan — producing an elephant–mammoth hybrid that resembles the extinct creature and that could be reintroduced to its natural habitat... (MORE - missing details)
https://www.theguardian.com/science/arti...ound-world
INTRO: A genetic disorder that causes severe disabilities in children and adults has been discovered by researchers who believe the newly identified condition could affect hundreds of thousands of people around the world.
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... (MORE - missing detail)
PAPER: https://www.nature.com/articles/s41586-024-07773-7
First 3D fossil chromosomes discovered in freeze-dried mammoth skin
https://www.nature.com/articles/d41586-024-02253-4
EXCERPTS: On the frozen tundra of Siberia some 50,000 years ago, a woolly mammoth met its end under mysterious circumstances. In samples of the animal’s skin, researchers have now discovered chromosomes preserved in their original 3D configuration — a feat previously thought impossible in ancient-DNA research.
[...] The researchers proposed that mammoth chromosomes had been preserved in a glass-like state through a dehydration process similar to that used to produce beef jerky. That technique results in tissue in which DNA molecules are densely packed and immobile.
The team’s experiments on freeze-dried beef jerky, which was subjected to extreme tests including being shot with a gun and run over with a car, confirmed the researchers’ theory: the jerky shattered like glass but its chromosomes remained intact.
“In absolutely no way would one think that [ancient] DNA stays in its shape,” says Víctor Moreno Mayar, a specialist in ancient populations genomics at the University of Copenhagen, who was not involved in the study. Seeing that it can “is really cool”, he says.
The findings suggest that the potential for recovering ancient DNA extends beyond what was previously thought possible, as long as the conditions are ideal, Moreno Mayar says.
The approach in the paper could also help researchers to assemble a complete mammoth genome, says Eriona Hysolli, head of biological sciences at Colossal Biosciences, a biotechnology firm in Dallas, Texas, that is working to resurrect the woolly mammoth.
Hysolli, who wasn’t involved in the study, says that a full mammoth genome could help to reveal features that might be relevant to the company’s bold plan — producing an elephant–mammoth hybrid that resembles the extinct creature and that could be reintroduced to its natural habitat... (MORE - missing details)