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Hype springs eternal in medicine, but lately the horizon of new possibility seems almost blindingly bright. “I’ve been running my research lab for almost 30 years,” says Jennifer Doudna, a biochemist at the University of California, Berkeley. And yet these brutal years — which brought more than a million American deaths and probably 20 million deaths worldwide, and seemed to return even the hypermodern citadels of the wealthy West to something like the experience of premodern plague — might also represent an unprecedented watershed of medical innovation. “It’s stunning,” says the immunologist Barney Graham, the former deputy director of the Vaccine Research Center and a central figure in the development of mRNA vaccines, who has lately been writing about a “new era for vaccinology.” “You cannot imagine what you’re going to see over the next 30 years. The pace of advancement is in an exponential phase right now.”
Persons: I’ve, , Jennifer Doudna, Doudna, Barney Graham Organizations: University of California, Army, Vaccine Research Center Locations: Berkeley, West
Confirmation of a likely genetic cause for the children’s deaths has implications far beyond Australia for parents who have been accused of killing or harming their babies. The advances in genetic testing used to free Folbigg are giving other families hope that science may explain why their children have died, but experts say sometimes even that can’t exonerate parents – often mothers – accused of harming them. How the science is helping othersOne of the lead authors of the study, Professor Carola Vinuesa, says that Folbigg’s case has encouraged other families and lawyers to come forward, seeking genetic evidence to clear mothers accused of harming their babies. Some mothers accused of injuring their children are seeking a genetic explanation for their symptoms to counter claims of child abuse, she said. “The majority of these mothers have not harmed their children, but the children have these very rare conditions.
Persons: Australia CNN — Kathleen Folbigg, Folbigg, seeped, don’t languish, ” Folbigg, , Kathleen Folbigg, Caleb, Patrick, Sarah, Laura, Folbigg’s, Craig, Emma Cunliffe, , Cunliffe, Roy Meadow, ” Cunliffe, Sharmila Betts, Betts, there’s, Reginald Blanch, she’d, – Caleb, Patrick –, Tom Bathurst, Carola Vinuesa, I’ve, we’ve, Meadow, Francis Crick, Carola Vinuesa's, Michael Bowles, Helen Hayward, Brown, “ It’s, Hayward, they’ve, aren’t, George W Bush, Tracy Chapman, she’s, Chapman, “ I’ve, We’ve, , ” Chapman, Stringer, Rhanee Rego, Andrew Dyer, Dyer, Michael Daley, Mr Bathurst, Mark Dreyfus, I’ll Organizations: Australia CNN, New South, CNN, ” Police, University of British Columbia’s Allard School of Law, , NSW, BSN, ABC, Child, Francis Crick Institute, Concorde, MySpace, Reuters, Australian Academy of Science, Law Council, Sydney Institute of Criminology, Australian Lawyers Alliance Locations: Brisbane, Australia, New South Wales, British, United Kingdom, Canada, London, United States, Iraq, Coffs Harbour , New South Wales, Reuters Bathurst, Scotland, Norway, New Zealand
Interbreeding with Homo sapiens helps to explain why millions can't straighten their fingers. There is also a Neanderthal gene variant that increases the risk of somebody dying from COVID-19. The study evidences that "intermingling" from Neanderthals and our Homo sapiens ancestors is consequential in examining the prevalence of certain diseases, researchers said. No more than 7% of the human genome is unique to Homo sapiens, according to a study published in the journal Science Advances. Brain development and function are what sets Homo sapiens apart, experts explained.
Persons: sapiens, , Hugo Zeberg, Nikola Solic, Zeberg Organizations: Service, British Society for Surgery, Karolinska Institute, Times Locations: COVID, Europe, Finland, Africa, Sweden, Asia
Riding Into a Bloodred Sunset
  + stars: | 2023-06-14 | by ( A.O. Scott | ) www.nytimes.com   time to read: +3 min
A page of Cormac McCarthy might sometimes be taken for poetry or scripture: the lean lines; the sparse punctuation; the jagged right-hand margin. They must have flown as they were riding up. If they’s a dead cow in the pasture will the rest of the cattle stay there? McCarthy, like every writer, belonged to his time, even as, perhaps more intently than most writers, he labored to create work that would outlast it. Not that they remotely resemble one another: Each represents a singular sensibility and an original voice, a personality on the page that is unmistakable and inimitable.
Persons: Cormac McCarthy, , , McCarthy, Joyce Carol Oates, John Updike, Sade, Updike, Toni Morrison, Susan Sontag, Philip Roth, Joan Didion, Don DeLillo, Thomas Pynchon, Oates Organizations: The New York Locations: The, Southwestern
Illumina on Sunday announced its board of directors has accepted the resignation of CEO Francis deSouza, just weeks after activist investor Carl Icahn failed to oust him from the biotech company. "It has been the privilege of a lifetime to serve Illumina," deSouza said in the release. Similarly, in an open letter to Illumina shareholders in April, Icahn accused deSouza of "desperately, hilariously and, most of all, unsuccessfully" trying to spin "decidedly mediocre" quarterly results during a press tour. In late May, Icahn had urged shareholders to vote off deSouza and Chairman John Thompson from the nine-member board. Shareholders booted Thompson, but deSouza held onto his role until Sunday.
Persons: Francis deSouza, Illumina, Carl Icahn, Charles Dadswell, Illumina's, DeSouza's, deSouza, Icahn, John Thompson, Thompson Organizations: Illumina Inc, Economic, Sunday Locations: Davos, Switzerland, Illumina
AWS on Wednesday announced its technology will support the Allen Institute as it builds a map of the human brain, called the Brain Knowledge Platform. To build the new platform, the Allen Institute is using single cell genomics technologies. The Allen Institute is a nonprofit research institute based in Seattle. As such, the Allen Institute is leveraging AWS' cloud computing and machine learning to standardize and consolidate complex brain data into one place. The Allen Institute will work to build the Brain Knowledge Platform over the next five years.
Persons: Dr, Ed Lein, It's, Lein, Rowland Illing Organizations: Genome Project, Allen Institute for Brain Science, Amazon Web Services, Wednesday, Allen Institute, Allen Locations: Washington ,, Seattle
Bob Mumgaard, the CEO of Commonwealth Fusion Systems Photo courtesy Commonwealth Fusion SystemsYou don't need to be a nuclear physicist to follow this race. The Commonwealth Fusion Systems campus in headquartered in Devens, Mass., which is between 35 and 40 miles outside of downtown Boston. The 50-acre campus is where Commonwealth Fusion System's corporate headquarters, advanced manufacturing facility and demonstration fusion device are all located. What it looks like to spend $2 billion to build a fusion machineIn the race to deliver fusion, Commonwealth is a frontrunner. The Commonwealth Fusion Systems' SPARC facility under construction in Devens, Mass.
Persons: Cat Clifford, Mumgaard, Wright, Bob Mumgaard, We've, haven't, Andrew Holland, Brandon Sorbom, Sorbom, Ally Yost, Yost, Alex Creely Organizations: Commonwealth Fusion Systems, CNBC, Commonwealth Fusion, United, Commonwealth, Fusion Industry Association, SPARC, ARC, Boeing Locations: Devens , Mass, Boston, Germany, Fukushima, Commonwealth
While some genetic variations previously thought to be exclusive to people were found in other primate species, the researchers pinpointed others that were uniquely human involving brain function and development. They also used the primate genomes to train an artificial intelligence algorithm to predict disease-causing genetic mutations in humans. Human-related threats such as habitat destruction, climate change and hunting have left about 60% of primate species threatened with extinction and about 75% with declining populations. "The vast majority of primate species have significantly more genetic variation per individual than do humans," said genomicist and study co-author Jeffrey Rogers of the Baylor College of Medicine in Texas. The genome data can help identify the primate species in the most dire need of conservation efforts.
Persons: Thomas Mukoya, genomicist Lukas Kuderna, gibbons, Kuderna, Jeffrey Rogers, Will Dunham, Rosalba O'Brien Organizations: REUTERS, WASHINGTON, Barcelona Biomedical Research Park's Institute, Evolutionary, Illumina Inc, Baylor College of Medicine, Thomson Locations: Kinigi, Rwanda, Barcelona, Spain, Americas, Africa, Madagascar, Asia, Texas, China, Laos, Vietnam
WASHINGTON, May 18 (Reuters) - Our species arose in Africa more than 300,000 years ago, with the oldest-known Homo sapiens fossils discovered at a site in Morocco called Jebel Irhoud, located between Marrakech and the Atlantic coast. A new study tapping into genome data from modern-day African populations is offering insight into how this may have unfolded. The research indicated that multiple ancestral groups from across Africa contributed to the emergence of Homo sapiens in a patchwork manner, migrating from one region to another and mixing with one another over hundreds of thousands of years. The findings did not support a longstanding hypothesis that a single region in Africa gave rise to Homo sapiens or a scenario involving mixture with an unidentified closely related species in the human evolutionary lineage within Africa. "By building models of how these transmissions occurred, we can test detailed models that relate past populations to present-day populations."
CNN —President Joe Biden will nominate Dr. Monica Bertagnolli, who currently leads the National Cancer Institute, to be the next director of the National Institutes of Health, the White House announced on Monday. Biden called Bertagnolli “a world-class physician-scientist whose vision and leadership will ensure NIH continues to be an engine of innovation to improve the health of the American people,” in a statement Monday. She would lead the country’s medical research agency, overseeing 27 research institutes and centers focused on different areas of medical research, such as cancer, the human genome, as well as allergy and infectious diseases. The nomination to lead NIH marks a fast ascent within the Biden administration for Bertagnolli. In this August 2022 photo, Monica Bertagnolli, newly appointed director of the National Cancer Institute, stands for recognition during remarks by President Joe Biden.
Human DNA can now be pulled from thin air and sequenced
  + stars: | 2023-05-15 | by ( Katie Hunt | ) edition.cnn.com   time to read: +6 min
Scientists have been able to collect and analyze detailed genetic data from human DNA from all these places, raising thorny ethical questions about consent, privacy and security when it comes to our biological information. Environmental DNA has been obtained from air, soil, sediment, water, permafrost, snow and ice cores and the techniques are primarily being used to help track and protect endangered animals. However, the ability to capture human DNA from the environment could have a range of unintended consequences — both inadvertent and malicious, they added. They termed this information “human genetic bycatch” and decided to study the phenomenon in greater depth. We cannot avoid shedding DNA in the public space,” Moreau, who was not involved in this study, said via email.
The women-led biotech startup Trace Genomics is working to reverse human-caused soil erosion. Soil-data companies such as the Iowa startup Trace Genomics are trying to help farmers reverse that trend. Prasanna Kankanala, Trace Genomics' director of research and development, visits a client's farm. The opportunity to help fight crop diseases led Parameswaran and Diane Wu, her cofounder, to start Trace Genomics in 2015. Where a chemical test might run him $20, Trace's test could run him $200.
Scientists Unveil a More Diverse Human Genome
  + stars: | 2023-05-10 | by ( Elie Dolgin | ) www.nytimes.com   time to read: +1 min
More than 20 years after scientists first released a draft sequence of the human genome, the book of life has been given a long-overdue rewrite. A more accurate and inclusive edition of our genetic code was published on Wednesday, marking a major step toward a deeper understanding of human biology and personalized medicine for people from a wide range of racial and ethnic backgrounds. Unlike the previous reference — which was largely based on the DNA of one mixed-race man from Buffalo, with inputs from a few dozen other individuals, mostly of European descent — the new “pangenome” incorporates near-complete genetic sequences from 47 men and women of diverse origins, including African Americans, Caribbean Islanders, East Asians, West Africans and South Americans. The revamped genome map represents a crucial tool for scientists and clinicians hoping to identify genetic variations associated with disease. It also promises to deliver treatments that can benefit all people, regardless of their race, ethnicity or ancestry, researchers said.
CNN —Scientists have pieced together a new draft of the human genome that better captures humanity’s genetic diversity. The scientists involved say it will improve our ability to diagnose disease, discover new drugs and understand the genetic variants that lead to ill health or a particular physical trait. The pangenome, a digital amalgamation of sequences that can be used to compare, construct and study other human genome sequences, is still a draft. The first draft of the human genome was released in 2001 and was only fully completed in 2022. The new pangenome reference is an amalgamation of different genomes from 47 people with ancestry from around the world.
Human genome reboot better reflects global population
  + stars: | 2023-05-10 | by ( Will Dunham | ) www.reuters.com   time to read: +5 min
The new genome rundown may help clarify the contribution of genetic variation to health and disease, improve genetic testing, and guide drug discovery. "A pangenome is not just one reference genome, but a whole collection of diverse genomes. Researchers in 2003 unveiled what was billed as the complete sequence of the human genome, though about 8% of it had not been fully deciphered. That reference genome was a mosaic drawn from about 20 people, including 70% from one individual of mixed European and African ancestry. The first complete human genome, based on a single European individual, was published last year after scientists filled in the gaps.
A fabricated image of a giant man towering above a crowd of people is being shared alongside false claims that it shows the “last Neanderthal giant”, but the image was likely generated using artificial intelligence, experts said. A Facebook post sharing the image states: “This is the last know human Giant Neanderthal!” and adds that Neanderthals “died out” thousands of years ago, so “no Neanderthal's DNA is found in modern times” (here). Contrary to the online claims, Neanderthal DNA has been extracted from these skeletal remains and analysed extensively. The earliest version of the image of a purported “Neanderthal giant” that Reuters could find appears on the official subreddit for Midjourney, an AI-based system that generates images based on text prompts entered by users (bit.ly/423OozQ). The image does not show the last Neanderthal giant, it is likely AI-generated.
Some of us would like to slow this down because we are seeing more costs every day, but I don’t think that means that there are no benefits. We may someday have a technology that revolutionizes science and technology, but I don’t think GPT-5 is the ticket for that. Combine that human overattribution with the reality that these systems don’t know what they’re talking about and are error-prone, and you have a problem. I don’t think we should go after an individual who posts a silly story on Facebook that wasn’t true. I don’t think, however, that the technology we have right now is very good for that — systems that can’t even reliably do math problems.
It has been 20 years since scientists put together the first rough draft of the human genome, the three billion genetic letters of DNA tightly wound inside most of our cells. Today, scientists are still struggling to decipher it. But a batch of studies published in Science on Thursday has cast a bright light into the dark recesses of the human genome by comparing it with those of 239 other mammals, including narwhals, cheetahs and screaming hairy armadillos. By tracing this genomic evolution over the past 100 million years, the so-called Zoonomia Project has revealed millions of stretches of human DNA that have changed little since our shrew-like ancestors scurried in the shadows of dinosaurs. These ancient genetic elements most likely carry out essential functions in our bodies today, the project found, and mutations within them can put us at risk of a range of diseases.
Balto: A good dog with great genes
  + stars: | 2023-04-27 | by ( Will Dunham | ) www.reuters.com   time to read: +4 min
Cleveland Museum of Natural History/Handout via REUTERS. Balto was feted as a hero, the subject of books and movies, and the dog's taxidermy mount still stands on display at the Cleveland Museum of Natural History. Balto, belonging to a population of working sled dogs in Alaska, also was found to have possessed greater genetic diversity and genetic health than modern canine breeds. Balto was found to share ancestry with modern Siberian huskies and Alaskan sled dogs as well as Greenland sled dogs, Vietnamese village dogs and Tibetan mastiffs, with no discernible wolf ancestry. Balto had a body built for strength and not speed, disappointing the breeder, who had the dog neutered.
From Alpacas to Yaks, Mammal DNA Yields Its Secrets
  + stars: | 2023-04-27 | by ( Emily Anthes | ) www.nytimes.com   time to read: +1 min
A team of Zoonomia researchers has now used a small piece of that taxidermied tissue to learn more about the celebrity sled dog and his canine contemporaries. What can we say about his genome?”Balto, they found, was genetically “healthier” than modern purebred dogs, with more inherited genetic variation and fewer potentially harmful mutations. That finding likely stems from the fact that sled dogs are typically bred for physical performance and may be a mixture of breeds. Balto also had an assortment of genetic variants that were not present in wolves and were rare or missing in modern purebred dogs, the researchers found. Many variants were in genes involved in tissue development and may have affected a variety of traits important for sled dogs, such as skin thickness and joint formation.
Cleveland Museum of Natural History/Handout via REUTERS. Balto was feted as a hero, the subject of books and movies, and the dog's taxidermy mount still stands on display at the Cleveland Museum of Natural History. Balto, belonging to a population of working sled dogs in Alaska, also was found to have possessed greater genetic diversity and genetic health than modern canine breeds. Sled dogs were the only viable option. Balto was found to share ancestry with modern Siberian huskies and Alaskan sled dogs as well as Greenland sled dogs, Vietnamese village dogs and Tibetan mastiffs, with no discernible wolf ancestry.
The findings in the ambitious Zoonomia Project identified parts of the genome functionally important in people and other mammals and showed how certain mutations can cause disease. The project revealed the genetics of uncommon mammalian traits like hibernation and showed how the sense of smell varies widely. The researchers said the findings on hibernation genetics could inform human therapeutics, critical care and long-distance space flight. The most primitive species was the venomous burrowing insect-eater Hispaniola solenodon, closely related to mammals alive during the dinosaur age. In terms of human differences from other mammals, the study pointed to regions associated with developmental and neurological genes.
Worms get the munchies, too, study reveals
  + stars: | 2023-04-20 | by ( Katie Hunt | ) edition.cnn.com   time to read: +4 min
It turned out the worms did respond, and cannabinoids made them hungrier for their favored foods and less hungry for their non-favored food. The research ultimately revealed that the worms, like humans, engage in hedonic feeding — a phenomenon more commonly known as the munchies. Fluorescent wormsBy measuring the swallowing rate of the worms, Lockery and his team determined that the cannabinoids were increasing how much of a particular bacteria blend the worms ate, making them hungrier. At the molecular level, the cannabinoid system in these worms looks a lot like that in people and other animals. Despite having a small number of neurons (302 neurons versus 86 billion neurons in humans), the worms have a nervous system that includes a primitive brain.
Reuters reported on Jan. 5, 2023, (here) that the Omicron sublineage XBB.1.5, the most transmissible one to date, was already spreading rapidly in the U.S. in December 2022. PANGO’s website (here) shows multiple new lineages identified from virus samples deposited around the world, and given names, in 2023. These include: XBB.1.24 and XBB.1.22.2 first spotted on Feb. 2, XBB.2.3.1 first seen on Jan. 29 and XBB.2.3.2 first identified on Jan. 18. The claims allude to the theory that the COVID-19 virus or its variants were planned or fabricated by the government or by Fauci. More than one new Omicron sublineage of the SARS-CoV-2 virus has been identified since Anthony Fauci’s retirement.
The remnants of ancient viruses that remain in human DNA can help people fight lung cancer. Scientists have found endogenous retroviruses can be awoken in cancer tissue and evoke an immune response. This could be the key to developing a cancer treatment vaccine and aiding survival rates. This discovery puts scientists closer to creating more effective treatments for lung cancer, he said. According to the American Cancer Society, lung cancer is the second most common cancer in both men and women in the United States (when discounting skin cancer), with the organization estimating that 2023 will see roughly 238,340 new cases of lung cancer and 127,070 deaths from the disease.
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