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Scientists build human pangenome to reflect diversity



for two decades, scientists compare the complete set of DNA of every person they study against a template that relies heavily on the genetic material of one person, affectionately known as the “Buffalo Kid.”

But they have long known that this template for comparison, or “reference genome”, has serious limitations because it does not reflect the spectrum of human diversity.

“We need a really good understanding of the variation, the differences between people,” said genomics expert Benedict Paten of the University of California, Santa Cruz. “We’re missing out.”

Scientists are now building a much more diverse benchmark, which they call the “pangenome”, which currently includes the genetic material of 47 people from different parts of the world. This is the subject of four studies published Wednesday in journals. Nature another natural biotechnology. Scientists say it is already teaching them new things about health and disease and should help patients in the future.

Paten said the new link should help scientists better understand what is normal and what is not. “Only by understanding what the overall variation looks like can we say, ‘Oh, this big structural variation that affects this gene? Don’t worry about it,” he said.

The human genome is a set of instructions for building and maintaining a human being, and experts define a pangenome as a set of complete sequences of the genomes of many people, designed to represent the genetic diversity of the human species. The pangenome is not a composite, but an aggregate; scientists depict it as a rainbow of stacked genomes compared to a single line representing an older, single reference genome.

The Human Pangenome Project builds on the first full human genome sequencing that was nearly completed over two decades ago and finally completed last year. Paten, author of the pangenome study and project leader, said that 70% of this first reference genome came from an African American of mixed African and European ancestry who responded to an advertisement for volunteers in a Buffalo newspaper in 1997. About 30% came from the mixture. numbering about 20 people.

Pangenome contains material from 24 people of African descent, 16 from the Americas and the Caribbean, six from Asia, and one from Europe.

Although the genomes of any two people are more than 99% identical, Paten said that “it is these differences that are what genetics and genomics study and understand.”

It may take some time for patients to see the specific benefits of the study. But scientists say the new ideas should eventually make genetic testing more accurate, improve drug discovery, and support personalized medicine that uses someone’s unique genetic profile to make decisions about disease prevention, diagnosis, and treatment.

“The Pangenome project provides a more accurate picture of the genome of people from all over the world,” and doctors should help better diagnose genetic diseases, said clinical genetics expert Dr. Wendy Chang of Columbia University, who was not involved in the study.

If someone has a variation of a certain gene, it can be likened to a rainbow of mentions.

Study author Evan Eichler of the University of Washington said researchers will also learn more about genes already linked to problems, such as the gene linked to cardiovascular disease in African Americans.

“Now that we can fully sequence this gene and understand the variations in this gene, we can start going back to the unexplained cases of patients with coronary artery disease” and look at them in the light of new knowledge. he said. Eichler is paid by the Howard Hughes Medical Institute, which is also supported by the Associated Press Health and Science Department.

University of Minnesota plant genetics expert Candace Hirsch, who was not involved in the study but closely followed it, said she expects many discoveries to come from it. So far, “we’ve really only been able to scratch the surface of the underlying genetics of the disease,” she said.

The consortium leading the study is part of the Human Genome Reference Program, which is funded by a division of the US National Institutes of Health.

The team is in the process of adding to its collection of reference genomes with the goal of obtaining sequences from 350 individuals by the middle of next year. Scholars also hope to work more with international partners, including those working on indigenous peoples.

“We are set for the long game,” Paten said.

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Ohio Lachelle Jordan missing after getting into car 4 days ago



Cleveland, Ohio police are looking for an ambulance paramedic who authorities say came out Saturday night to retrieve something from his car and has not been seen since.

Lachelle Jordan, 30, was reported missing by family members on Sunday, Cleveland police said.

On Wednesday, the Cuyahoga County Crimestoppers announced a $5,000 reward for information that said Jordan disappeared after approaching her car parked on Fairpoint Avenue at 6:00 pm.

Laughter Jordan.Cleveland Police via Facebook

Jordan is an ER doctor from Cleveland and a mother of two. NBC WKYC Cleveland affiliate reported.

In a notice asking for information, the police said that Jordan was endangered.

She was last seen wearing an East Cleveland Fire Department sweatshirt, white and green tie-printed trousers, and rainbow crocodile leather pumps, police said.

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Ashley Park put nude illusion on LBD



Ashley Park wore black and beige to the second annual Golden Gala in Los Angeles.

Wednesday, May 10 Emily in Paris the actor took to the golden carpet in a Roberto Cavalli dress with asymmetrical cutouts embellished with sparkling golden pineapples. The embellishment added charm to the sexy dress, which criss-crossed at her neck, bust, waist and hips in alternating colors. At first glance, the flesh-colored fabric melts into her skin, creating the illusion of a black strappy dress, which she paired perfectly with gold jewelry and a glittery handbag.

Monica Schipper/Getty Images

A final strip of flesh wraps around her waist and fades into a black skirt with a thigh-high slit. A subtle detail gave her black platform heels a chance to shine.

Gregg DeGuire

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DEA Officially Extends Remote EPCS Flexibility by 6 Months



Last week, the US Drug Enforcement Agency and the US Department of Health and Human Services said they would temporarily expand the flexibility of telemedicine to prescribe certain controlled medications provided as part of the COVID-19 public health emergency, which expires May 11. .

DEA this week added some details to this pledge to allow a six-month extension, through November 11, 2023, and, in tandem with the HHS Office of Substance Abuse and Mental Health, by promising a grace period for virtual prescribing of certain controlled drugs that will last until at least November 2024 of the year. .

DEA Administrator Ann Milgram said the agency received a “record” 38,000 comments on its proposed telemedicine rules and responded with an extension accordingly.

On Tuesday, the American Telemedicine Association again thanked the agencies for recognizing the value of telemedicine and remote care.

“ATA and ATA Action appreciate the actions the DEA has taken in conjunction with SAMHSA to temporarily expand flexibility for remote prescribing of clinically acceptable controlled substances for six months,” said Kyle Zebley, Senior Vice President, Public Policy, Drug Enforcement Administration. ATA and Executive Director of ATA Action.

He noted that the ATA recognizes “the importance of continued care for these patients and is responding appropriately and thoughtfully to the countless concerned Americans who commented on the earlier draft rules.”

In two letters to federal agencies, the ATA outlined several of its arguments and submitted proposals for updating the proposed rules to maintain mechanisms to prevent rejection while ensuring that patients do not lose access to the care they need.

“It is particularly important and encouraged that these actions address access to clinically acceptable controlled substance prescriptions, which are needed by patients in a wide variety of medical settings, including mental illness and substance use disorders,” Zebli said.

He added that the ATA hopes federal agencies will use the extension period to further remove “unnecessary restrictive barriers to fair and proper clinical care, such as mandatory in-person visits.”

Andrea Fox is a senior editor at Healthcare IT News.

Healthcare IT News is a publication of HIMSS Media.

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