Category Archives: Genetics

Genetic data on 500,000 volunteers in UK to be released for scientific study

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UK BioBank offers up biggest ever cache of whole-genome sequences for medical research

A new era of medical discoveries, treatments and cures is on the horizon, researchers say, following the announcement that an unprecedented trove of genetic information is to be made available to scientists.

Health researchers from around the world can now apply to study the whole genomes of half a million people enrolled in UK Biobank, a biomedical research project that has compiled detailed health and lifestyle records on individuals since it began 20 years ago.

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UK Biobank and the masses of medical data that became key to genetic research

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The resource, which is on the move to Manchester, now ranks as the world’s most important health database

The origins of the UK Biobank can be traced back to a pilot study in a building in Stockport bordered by the Cheadle Heath police station on one side and the local recreation ground on the other. It was the early 2000s and scientists had realised the potential for genomics and big data to transform health research.

With diabetes, cancer, dementia and other ailments on the rise, scientists pushed for a database devoted to genetics, health and lifestyle to help them tease apart who was most at risk and how diseases could be prevented.

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Over the counter genetic tests in UK ‘fail to identify 89%’ of those at serious risk

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Study by University College London also says 5% of users are wrongly told they will develop major illness

Over the counter genetic tests in the UK that assess the risk of cancer or heart problems fail to identify 89% of those in danger of getting killer diseases, a new study has found.

Polygenic risk scores are so unreliable that they also wrongly tell one in 20 people who receive them they will develop a major illness, even though they do not go on to do so.

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Germany matches DNA from skulls stolen from African colony to living relatives

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Remains pillaged in colonial era for ‘scientific’ experiments are DNA matched to Tanzanian descendants

Researchers in Berlin have identified living relatives of people whose remains were stolen from Tanzania and taken to Germany for “scientific” experiments during the colonial era.

Berlin’s Museum of Prehistory and Early History has been carrying out research since 2017 on about 1,100 skulls taken from what was then known as German East Africa.

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Seven new ‘walking leaf’ insect species discovered

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Researchers used genetic analysis to identify species that cannot be distinguished by appearance alone

Seven new leaf insect species, known as “walking leaves”, have been discovered.

The insects exhibit a sophisticated “twigs and leaf-like” camouflage allowing them to blend into their surroundings without detection, posing a challenge to both predators and researchers.

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Ötzi the iceman had receding hairline and dark skin tone, study reveals

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Genome analysis reveals new physical details of mummified corpse found in ice of Italian Alps

Dark eyes, receding black hair, few or no freckles and a darker skin tone. This is how Ötzi the iceman, the mummified corpse found trapped in the ice of the Italian Alps, would have looked while living.

Researchers who conducted a higher-coverage analysis of the genome to learn more about Ötzi’s genetic history and the mummified man’s physical appearance have found genes associated with male-pattern baldness and darker skin tone.

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Plans for UK ‘genomics transformation’ aim to act on lessons of Covid

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Ten-year science strategy of UK Health Security Agency will use data to combat infectious diseases faster and more effectively

Health officials in the UK have drawn up plans for a “genomics transformation” that aims to detect and deal with outbreaks of infectious diseases faster and more effectively in the light of the Covid pandemic.

Information gleaned from the genetics of Covid proved crucial as the virus swept around the globe, revealing how the pathogen spread, evolved, and responded to a succession of vaccines and medicines developed to protect people.

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Recovery of ancient DNA identifies 20,000-year-old pendant’s owner

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Elk tooth pendant unearthed in Siberia is first prehistoric artefact to be linked to specific person using genetic sleuthing

Scientists have used a new method for extracting ancient DNA to identify the owner of a 20,000-year-old pendant fashioned from an elk’s canine tooth.

The method can isolate DNA that was present in skin cells, sweat or other body fluids and was absorbed by certain types of porous material including bones, teeth and tusks when handled by someone thousands of years ago.

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Pets could be gene-edited under new English law, says RSPCA

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Act opens door to technology being used to create cats and dogs with extreme features, says charity

Pets could be subjected to gene editing under a new government act, the RSPCA has warned.

The animal charity has said that the Genetic Technology (Precision Breeding) Act applies to all vertebrate animals, not only farmed animals, and that it could lead to cats and dogs being gene-edited to include extreme features.

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New data links Covid-19’s origins to raccoon dogs at Wuhan market

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Analysis of gene sequences by international team finds Covid-positive samples rich in raccoon dog DNA

Newly released genetic data gathered from a live food market in Wuhan has linked Covid-19 with raccoon dogs, adding weight to the theory that infected animals sold at the site started the coronavirus pandemic, researchers involved in the work say.

Swabs collected from stalls at the Huanan seafood market in the two months after it was shut down on 1 January 2020 were previously found to contain both Covid and human DNA. When the findings were published last year, Chinese researchers stated that the samples contained no animal DNA.

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New analysis of ancient human protein could unlock secrets of evolution

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The technique – known as proteomics – could bring new insights into the past two million years of humanity’s history

Tiny traces of protein lingering in the bones and teeth of ancient humans could soon transform scientists’ efforts to unravel the secrets of the evolution of our species.

Researchers believe a new technique – known as proteomics – could allow them to identify the proteins from which our predecessors’ bodies were constructed and bring new insights into the past 2 million years of humanity’s history.

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DNA used to identify California mother whose body was found 27 years ago

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Amanda Deza’s remains were found in canal in 1995 and remained unknown until daughter’s DNA was used to identify them

On a spring day in 1995, a group of recyclers scavenging along a northern California canal made a grim discovery – the remains of a woman bound and gagged inside a partly submerged refrigerator.

Authorities believed the body, described as being that of a woman between 29 and 41 years old with strawberry blond hair, had been underwater for several months. For the next three decades, the case would stump homicide investigators in San Joaquin county, east of the San Francisco Bay Area, some of whom spent their entire careers trying to identify the woman.

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Scientist convicted of editing babies’ genes has Hong Kong visa revoked over ‘false statement’

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Local media report inquiry launched over application by Chinese scientist He Jiankui, whose work sparked ethics storm

Hong Kong has reportedly revoked a visa for the controversial gene therapy scientist He Jiankui less than a day after it was revealed he’d been granted one, despite having a criminal record in China for illegal medical practices.

Hong Kong immigration officials said his visa was rescinded and a criminal investigation launched into allegations He had lied on his application form, the South China Morning Post reported.

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Scientist who edited babies’ genes says he acted ‘too quickly’

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Exclusive: He Jiankui stops short of apologising for procedure that shocked the world of science in 2018

The scientist at the heart of the scandal involving the world’s first gene-edited babies has said he moved “too quickly” by pressing ahead with the procedure.

He Jiankui sent shock waves across the world of science when he announced in 2018 that he had edited the genes of twin girls, Lulu and Nana, before birth. He was subsequently sacked by his university in Shenzhen, received a three-year prison sentence, and was broadly condemned for having gone ahead with the risky, ethically contentious and medically unjustified procedure with inadequate consent from the families involved.

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Gene-edited sheep offer hope for treatment of lethal childhood disease

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Roslin Institute engineered a flock to help research into the genetics of Batten disease

A flock of gene-edited sheep has been used by scientists to pinpoint a promising treatment for a lethal inherited brain disease that afflicts young children. The researchers, based in the UK and US, say their work could lead to the development of drugs to alleviate infantile Batten disease.

In the UK, Batten disease affects between 100 and 150 children and young adults and is inherited from two symptomless parents who each carry a rare recessive gene mutation.

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Swedish geneticist wins Nobel prize for Neanderthal research

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Svante Pääbo receives 2022 award in physiology or medicine for genome discoveries including Neanderthals

A Swedish geneticist has been awarded the 2022 Nobel prize in physiology or medicine.

Svante Pääbo won the 10m Swedish kronor (£867,000) prize announced on Monday by the Royal Swedish Academy of Sciences in Stockholm.

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Fears over China’s access to genetic data of UK citizens

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Biobank urged to review transfer of information for medical research

Rising political and security tensions between Beijing and the west have prompted calls for a review of the transfer of genetic data to China from a biomedical database containing the DNA of half a million UK citizens.

The UK Biobank said it had about 300 projects under which researchers in China were accessing “detailed genetic information” or other health data on volunteers.

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Earliest Pacific seafarers were matrilocal society, study suggests

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DNA analysis of 164 individuals from 2,800 to 300 years ago shows men would move to be with their wives

The world’s earliest seafarers who set out to colonise remote Pacific islands nearly 3,000 years ago were a matrilocal society with communities organised around the female lineage, analysis of ancient DNA suggests.

The research, based on genetic sequencing of 164 ancient individuals from 2,800 to 300 years ago, suggested that some of the earliest inhabitants of islands in Oceania had population structures in which women almost always remained in their communities after marriage, while men left their mother’s community to live with that of their wife. This pattern is strikingly different from that of patrilocal societies, which appeared to be the norm in ancient populations in Europe and Africa.

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Ageing reversal: scientists rejuvenate tissues in middle-aged mice

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Prospect of medical therapies that rewind clock for humans edges a little closer

The prospect of medical therapies that rewind the clock on the ageing process has edged a little closer after scientists safely rejuvenated tissues in middle-aged mice.

Researchers in the US treated healthy animals with a form of gene therapy that refreshed older cells, making the animals more youthful according to biological markers that are used to measure the effects of ageing.

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If they could turn back time: how tech billionaires are trying to reverse the ageing process

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Jeff Bezos and Peter Thiel are pouring huge sums into startups aiming to keep us all young – or even cheat death. And the science isn’t as far-fetched as you might think

In the summer of 2019, months before the word “coronavirus” entered the daily discourse, Diljeet Gill was double-checking data from his latest experiment. He was investigating what happens when old human skin cells are “reprogrammed” – a process used in labs around the world to turn adult cells (heart, brain, muscle and the like) – into stem cells, the body’s equivalent of a blank slate.

Gill, a PhD student at the Babraham Institute near Cambridge, had stopped the reprogramming process midway to see how the cells responded. Sure of his findings, he took them to his supervisor, Wolf Reik, a leading authority in epigenetics. What Gill’s work showed was remarkable: the aged skin had become more youthful – and by no small margin. Tests found that the cells behaved as if they were 25 years younger. “That was the real wow moment for me,” says Reik. “I fell off my chair three times.”

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