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Category Archives: DNA

Scientists gather bobcat DNA from paw prints – KJZZ

Posted: January 16, 2024 at 9:18 pm

National Park Service

A bobcat at Tonto National Monument.

Scientists can now extract genetic information about bobcats from their paw prints.

The DNA can offer clues about the animals ancestry and even their microbes vital information for monitoring one of Arizonas most common predators.

As reported in a paper published the journal Biological Conservation, the technique is precise enough to distinguish a bobcat from a Canada lynx (a close cousin species with an overlapping distribution range), which would be impossible using tracks alone.

Climate change, habitat loss and biodiversity declines underscore the need for better species monitoring.

But historically that has meant in-person surveys, live traps or recordings.

Through the emerging field of environmental DNA, or eDNA, scientists are learning to gather genetic material from oil, water or even air.

In this case, a happenstance sighting of bobcats in Florida led a scientist to sample soils from their paw prints and calibrate his findings with samples from the Jacksonville Zoo and Gardens.

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Discovering Fusions Requires More Than DNA Testing in GI Cancers – OncLive

Posted: at 9:18 pm

As targeted therapies in colorectal, gastroesophageal, biliary tract, and other gastrointestinal (GI) cancers continue to gain traction, and as additional therapeutic targets for novel agents emerge, consistently testing for biomarkers will be key to identifying more targetable alterations for novel therapeutics and determining which patients will benefit most from these therapies, according to E. Gabriela Chiorean, MD.

With the November 16, 2023, FDA approval of pembrolizumab (Keytruda) plus fluoropyrimidine- and platinum-based chemotherapy for the first-line treatment of adult patients with locally advanced unresectable or metastatic HER2-negative gastric or gastroesophageal junction (GEJ) adenocarcinoma,1 another immunotherapy option has joined nivolumab (Opdivo) in the treatment paradigm.2

When considering how to best incorporate recently approved agents into care, Chiorean explained that pembrolizumab plus fluoropyrimidine- and platinum-based chemotherapy adds to the immune checkpoint inhibitor data that investigators already have with nivolumab. The 2021 approval of nivolumab in combination with fluoropyrimidine- and platinum-containing chemotherapy for patients with advanced or metastatic gastric cancer, GEJ cancer, and esophageal adenocarcinoma was supported by findings from the phase 3 CheckMate 649 study (NCT02872116). Patients with a combined positive score (CPS) of at least 5 who received the combination experienced a statistically significant improvement vs chemotherapy alone in progression-free survival (HR, 0.68; 95% CI, 0.58-0.79; P< .0001) and overall survival (OS; HR 0.71; 95% CI, 0.61-0.83; P< .0001). Irrespective of CPS score, all patients receiving the combination achieved a statistically significant improvement vs chemotherapy alone in OS (HR, 0.80; 95% CI, 0.71-0.90; P=.0002).2

Nivolumab has been approved [by the FDA] for patients with HER2-negative gastroesophageal cancer [and its] mostly used for patients with [a] CPS of more than 5, Chiorean said in an interview with OncologyLive. Chiorean is a full professor of medicine at the University of Washington, clinical director of the GI Medical Oncology Program at Fred Hutchinson Cancer Center, and director of the Clinical Research GI Oncology Program at the University of Washington/Fred Hutchinson Cancer Center in Seattle.

Pembrolizumab has been approved irrespective of CPS, but we are very aware that the benefit is mostly for patients with a CPS higher than 1 or even higher than 10, she explained. Immunotherapies for advanced gastroesophageal cancers do apply for those with positive PD-L1 expression, whether its a CPS score more than 1, more than 5, or more than 10, depending on what immune checkpoint inhibitors we use.

As gene alterations become more prevalent therapeutic targets, DNA and RNA testing is of the upmost importance. Findings from a diagnostic study published in JAMA Oncology examining paired DNA and RNA sequencing of 43,524 individuals who underwent germline testing for hereditary cancer revealed that RNA evidence was necessary for the classification of 17.1% of pathogenic or likely pathogenic splicing variants. Additionally, 71.1% of existing splicing variants of uncertain significance were resolved by evidence from RNA tests. Investigators concluded that concurrent RNA and DNA sequencing improves detection of novel variants and classification of existing ones.3

Its exciting to apply these new therapeutics based on the targeted alterations that we findwe just have to test everybody, Chiorean said. We also have to be very careful to include both DNA testing as well as RNA testing because we may miss certain genetic alterations if we exclusively use DNA tests. There are RNA-based tests that can be more effective in finding genetic fusions, such as NRG1 fusions and RET fusions. These fusions are important because now we have agents targeting them.

Pralsetinib (Gavreto) and selpercatinib (Retevmo) are both targeted agents included in the National Comprehensive Cancer Network guidelines for the treatment of patients with unresectable and metastatic biliary tract cancers with RET fusions.4 Additionally, selpercatinib holds an indication for patients with locally advanced or metastatic solid tumors with RET fusions who have progressed on or following prior systemic treatment or who have no satisfactory alternative treatment options.5

We need to make sure we test [for] everythingmicrosatellite instability[MSI] status, tumor mutational burden, DNA, and RNAin order to discover all the possible targetable alterations of our patients, because there are more and more treatments available, both in clinical trials and with FDA approvals.... Every tumor needs to be sequenced and when its not available we need to test [for] these molecular abnormalities with liquid biopsies [and] with circulating tumor [ct]DNA, Chiorean said.

Approximately 50% of patients with colorectal cancer (CRC) will develop colorectal liver metastasesclinically heterogeneous lesions associated with poor prognosis.6,7 In a retrospective study conducted in China that examined the genomic alterations of CRC liver metastases in 144 patients using next-generation sequencing, investigators found that the most prevalent alterations were TP53 (83%), APC (69%), KRAS (43%), and SMAD4 (17%).7

We know that certain cancers are more likely to shed ctDNA in the bloodpancreatic cancer tends to be a cancer [that is] less positive [for] ctDNA, but in CRCs, especially in those with liver metastases, liquid biopsies are very useful, Chiorean said.

Shooting For The Stars With Biomarkers

Moreover, we are trying to conduct more tests regarding how we can declare whether the patient is immune competent vs not. How do we determine the immune microenvironment that could be more amenable to be targeted with immunotherapies or not? Chiorean asked. These are very new biomarkers, which are not genetic based; they are more [representative of] a profile having to do with a tumor microenvironment and the host that the patient represents. We are doing a lot of research in this arena in terms of finding new markers for immune therapeutics [and] for stroma-targeted therapies.

In addition to the GI biomarkers of HER2 overexpression, MSI-high status, and PD-L1 expression, emerging biomarkers include CLDN18.2, which is present in approximately 30% of gastric/GEJ cancers, and FGFR2, which is rarer and reported in approximately less than 10% of gastric cancers.8

In July 2023, the FDA granted priority review to the biologics license application seeking the approval of the first-in-class monoclonal antibody zolbetuximab for the first-line treatment of patients with locally advanced unresectable or metastatic HER2-negative gastric or GEJ adenocarcinoma and CLDN18.2-positive tumors.9

Additionally, in April 2021, the novel FGFR2 inhibitor bemarituzumab plus modified fluoropyrimidine, leucovorin, and oxaliplatin (mFOLFOX6) received breakthrough therapy designation from the FDA for the frontline treatment of patients withFGFR2b-overexpressing, HER2-negative metastatic and locally advanced gastric and GEJ adenocarcinoma following positive results from the phase 2 FIGHT study (NCT03694522).10 Bemarituzumab is currently under investigation with mFOLFOX6 in the phase 3 FORTITUDE-101 trial (NCT05052801) and with mFOLFOX6 and nivolumab in the phase 3 FORTITUDE-102 trial (NCT05111626).10

In addition, because [we can make] adoptive immunotherapies more active and reactive against the patients cancer using the patients human leukocyte antigen [HLA] testing, HLA testing is becoming more important. Knowing the proteins that present an antigen to the immune system such that patients may become able to participate in adoptive immunotherapy trials [is important]. Biomarkers are being extended beyond next-generation sequencing, Chiorean noted.

Chiorean noted that upcoming presentations at the 9th Annual School of Gastrointestinal Oncology (SOGO), which is scheduled to take place on February 24, 2024, in Los Angeles, California, will address these novel treatment options in addition to various aspects of multidisciplinary care, ranging from the nonoperative or operative management of stage IV CRC to using targeted [therapy] and/or immunotherapy in early-stage gastroesophageal as well as hepatobiliary cancers. [The treatment of patients with] hepatobiliary cancers is typically very multidisciplinary because it involves surgery, interventional radiology, radiation oncology, and medical oncology.

The American Cancer Society listed 11 regimens used to treat stage IV colon cancer in August 2023, noting that these were only some of the most commonly used regimens. Radiation and surgery were also cited as options in certain cases.11

A lot of debate exists in terms of managing stage IV CRC that has been resected, oligometastatic disease that has been resected, [and] the role of ctDNA. These sessions will be of huge interest [at SOGO 2024] in order to understand the players that have to be engaged in making treatment decisions for our patients, Chiorean said.

At SOGO 2024, sessions will include The Role of ctDNA in Colon Tumor Management presented by Sidharth R. Anand, MD, MBA, who is a medical oncologist and hematologist at UCLA Health in Los Angeles, California, and Management of Stage IV no evidence of disease [NED] CRC presented by Marwan G. Fakih, MD, who is a medical oncologist, professor in the Department of Medical Oncology & Therapeutics Research, associate director for Clinical Sciences, medical director of the Briskin Center for Clinical Research, division chief of GI Medical Oncology, and co-director of the Gastrointestinal Cancer Program, all at City of Hope in Duarte, California.

[We] are looking at the RAS inhibitors, pan-RAS inhibitors, [and] KRAS G12C inhibitors, both as monotherapy as well as in combination therapies, Chiorean noted. Certainly, were also looking at cancer vaccines [and] at oncolytic viruses. These are very exciting agents that may [become a part of] combination therapeutics with immune checkpoint inhibitors or even chemotherapies. Indeed, there are several classes of agents, both targeted as well as immune-based therapies, that are very exciting and I look forward to 2024 [to see] more, hopefully positive results.

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Largest-ever ocean DNA study uncovers mysteries of marine life – Earth.com

Posted: at 9:18 pm

The ocean, Earths largest habitat, remains largely unexplored, holding secrets to numerous unidentified species and microorganisms. Recent advancements in ocean DNA research have brought us closer to uncovering these mysteries.

The latest landmark in this journey is the creation of the KMAP Global Ocean Gene Catalog 1.0, a comprehensive database of marine microbial biodiversity.

Elisa Laiolo of the King Abdullah University of Science and Technology (KAUST) in Saudi Arabia, the lead author of the study, shares her excitement.

With over 317 million gene groups from marine organisms globally, the KMAP catalog represents a significant step towards understanding the oceans full diversity. Focusing on marine microbes, this catalog is pivotal for comprehending their influence on ocean health and Earths climate, Laiolo said.

This catalog is a gateway to endless possibilities. Prof Carlos Duarte, KAUST faculty member and the studys senior author, elaborates on its potential.

Hosted on the KAUST Metagenomic Analysis Platform (KMAP), this freely accessible catalog enables scientists to explore diverse ocean ecosystems, assess the effects of pollution and global warming, and even discover biotechnological applications like new antibiotics or methods to degrade plastics.

The quest to map marine biodiversity is centuries old, fraught with challenges, primarily due to the inability to study most marine organisms in a lab setting.

The advent of DNA sequencing technologies revolutionized this field, allowing for direct identification of organisms from ocean water and sediments.

Laiolo simplifies the process, saying, Each species has a unique gene set, enabling us to determine the organisms present in an ocean sample by analyzing its genetic material.

She credits two technological advancements for this large-scale achievement: the rapid development and reduced cost of DNA sequencing technologies, and the emergence of powerful computational and AI technologies.

The research team utilized KMAP to analyze DNA sequences from 2,102 ocean samples collected worldwide.

This cutting-edge computational effort identified 317.5 million gene groups, with over half classified by organism type and gene function.

By correlating this information with sample locations and habitat types, the catalog offers unprecedented insights into the distribution and roles of marine microbes.

This achievement underscores the essence of open science, Duarte remarks. The catalogs creation was possible due to global sailing expeditions for sample collection and the open-access sharing of DNA data. He emphasizes the ongoing collaborative efforts to keep this catalog freely available.

The KMAP catalog has already uncovered significant findings, like differences in microbial activity between the water column and ocean floor, and a notable presence of fungi in the mesopelagic twilight zone.

These discoveries aid in understanding how different habitats microbes shape ecosystems, contribute to ocean health, and affect the climate.

This catalog also serves as a crucial baseline for monitoring the impact of human activities, like pollution and global warming, on marine life. Its a treasure trove of genetic material, ripe for exploration in drug development, energy, and agriculture.

Laiolo highlights the need for continued ocean sampling, especially in under-studied areas like the deep sea. She points out that due to the oceans dynamic nature, the catalog will require regular updates.

However, Duarte warns of the catalogs uncertain future, citing international legislation on benefit-sharing from discoveries in international waters as a major hurdle.

The 2023 Treaty of the High Seas offers some solutions, but it might also hinder research by diminishing investment incentives. Resolving this uncertainty is crucial now that we have the tools for groundbreaking innovation in blue biotechnology, he concludes.

The KMAP Ocean Gene Catalog 1.0 is just the beginning. Its a first step towards developing a comprehensive atlas documenting every gene from every marine species worldwide, from bacteria and fungi to plants and animals.

In summary, as we continue to explore and understand the vast and complex ocean ecosystem, this catalog will be an indispensable resource, guiding us towards a deeper appreciation and better stewardship of our planets greatest natural resource.

The full study was published in the journal Frontiers in Science.

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1st-ever ancient case of Turner syndrome, with just 1 X chromosome instead of 2, found in ancient DNA – Livescience.com

Posted: at 9:17 pm

Roughly 2,500-year-old DNA has revealed the first ancient person on record with Turner syndrome, a genetic condition in which a person has just a single X chromosome rather than two, a new study finds.

The individual, who died when they were 18 to 22 years old, likely hadn't gone through puberty, an analysis of the bones revealed. A further investigation of the remains revealed that the individual had mosaic Turner syndrome, as some cells had just one X chromosome while others had two.

The research looked at historical DNA gathered in the Thousand Ancient British Genomes project a database of DNA being collected from skeletons in the U.K. The team identified a total of six people with sex chromosomal conditions, according to a study published Jan. 11 in the journal Communications Biology.

The researchers made the discoveries after developing a computational method to find atypical numbers of chromosomes in DNA from skeletons.

Related: Europeans' ancient ancestors passed down genes tied to multiple sclerosis, Alzheimer's risk

The individual with Turner syndrome, who died in the early Iron Age (750 to 400 B.C.) likely had a partially missing second X chromosome. This condition can often lead to symptoms and characteristics such as shorter-than-average height, cardiac defects and small or absent ovaries, leading to fertility issues.

Of the other five people with aneuploidies, or genetic disorders in which a person doesn't have 46 chromosomes,three individuals showed signs of Klinefelter syndrome a genetic condition in which a person has an XXY set of sex chromosomes. Of these three individuals, one died in the Iron Age (circa 750 B.C. to A.D. 43), one in the high Middle Ages (around A.D. 1050 to 1290) and one in the early 19th century. Klinefelter syndrome often stunts the growth of a person's testicles, leading to lower testosterone levels, lower muscle mass, less body hair and larger breast tissue than typical XY individuals.

The three skeletons identified with this condition were buried in ways typical for their times, according to the study, showing that "their burials did not reveal any differences in how they were perceived by their contemporaries," the researchers wrote.

Another male individual from the early medieval period (eighth century) had an extra Y sex chromosome, known as XYY syndrome. Most people who have XYY chromosomes have no physical features that are different than people with XY chromosomes, other than often being taller than average.

The researchers also identified a male infant from Iron Age Britain who had Down syndrome. This condition can result in neurodevelopmental problems, and identifying skeletons with the syndrome "can provide insights into care within ancient societies, as well as how people with these conditions, which have characteristic physical manifestations, were perceived by their peers," the researchers wrote in the study.

Although the number of people with chromosomal differences revealed in this study is small, the researchers' new method gives them the opportunity to observe genetic diversity to "provide another layer of information that can contribute to a more detailed reconstruction of the human past," they wrote in the study.

In particular, making it easier to study variations in sex chromosomes in ancient DNA can help move the field of skeletal analysis beyond binary sex estimations and into a more complex understanding of social gender.

"It is difficult to know an ancient individual's conception of their own gender identity, and gender norms in the past may not align with those of the present day," the researchers wrote in their study. "It is possible that an elevated proportion would have been seen to transgress gender boundaries."

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Minnesota Mother Calls on NYS to Allow DNA Testing Finger Lakes Daily News – Finger Lakes Daily News

Posted: at 9:17 pm

Last Friday, Kristen OConnell would have turned 59 years old.

The Minnesota woman was murdered in Ovid in 1985. No one has ever been arrested for her death. OConnell was visiting a friend and left a party, her body was later found in a cornfield.

In a post on Facebook, Kristens mother is asking you to petition the New York State Health Department to allow a Texas lab to perform new DNA testing. The lab is not licensed by New York State but could be granted an exemption.

Get the top stories on your radio 24/7 on Finger Lakes News Radio 96.3 and 1590, WAUB and 106.3 and 1240, WGVA, and on Finger Lakes Country, 96.1/96.9/101.9/1570 WFLR.

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DNA Didn’t Match Marcellus Williams. Missouri May Fast-Track Execution Anyway. – The Intercept

Posted: at 9:17 pm

Felicia Anne Gayle Picus was found dead in her home, the victim of a vicious murder that devastated her family and rattled her neighbors in the gated community of University City, Missouri, just outside St. Louis. Police suspected a burglary gone wrong. The scene was replete with forensic evidence: There were bloody footprints and fingerprints, and the murder weapon a kitchen knife used to stab Picus was left lodged in her neck.

That detail caught the medical examiners attention. Weeks earlier, another woman had been stabbed to death just a couple of miles away, and the weapon was left in the victims body. Days after Picuss murder, the University City police chief told the St. Louis Post-Dispatch that investigators had identified a prime suspect, someone they said had been spotted in the area in recent weeks, whom they believed had killed before.

But whatever became of that lead is unclear. After Picuss family posted a $10,000 reward for information leading to the arrest and conviction of her killer, a jailhouse informant named Henry Cole came forward with a story about how his former cellmate, Marcellus Williams, had confessed to murdering Picus. Soon, police secured a second informant: Laura Asaro, Williamss former girlfriend, also told the cops that Williams was responsible for the killing. There were reasons to be wary of their stories. Both informants were facing prison time for unrelated crimes and stood to benefit. Many of the details they offered shifted over the course of questioning, while others did not match the crime. Nonetheless, Williams was charged with Picuss murder, convicted, and sentenced to death.

Questions about the investigation and Williamss guilt have only mounted in the years since the August 1998 crime. DNA testing on the murder weapon done years after his conviction revealed a partial male profile that could not have come from Williams. On the eve of Williamss scheduled execution in 2017, then-Missouri Gov. Eric Greitens intervened. He issued an executive order that triggered a rarely used provision of Missouri law, empaneling a board to review the evidence, including DNA, that jurors never heard about at trial.

While that review was ongoing for most of the last six years, the board never submitted a final report or recommendation to the governor, as the law requires. Instead, last June, Gov. Mike Parson announced that he was rescinding his predecessors order, effectively dissolving the panel that had been reinvestigating the case.

The question now is whether Missouri law allows the governor to simply disappear an ongoing investigation. Because the law has so rarely been used, its contours have never been fully litigated, prompting the Midwest Innocence Project, which represents Williams, to file a civil lawsuit seeking to invalidate Parsons order. The states attorney general balked, arguing that Williams was trying to usurp the governors independent clemency powers. The AG has asked the Missouri Supreme Court to toss the lawsuit and clear the way for Williamss execution.

Picus spent a decade as a reporter for the St. Louis Post-Dispatch, including on the crime beat, before leaving to focus on philanthropic endeavors. She was an ardent environmentalist and feminist: She persuaded the newspaper to adopt its first recycling program, and a former colleague recalled how shed advocated for using the term personhole instead of manhole in stories.

Diminutive in stature with long hair and a reported fondness for Birkenstocks, Picus was also a dedicated friend. She wrote hundreds of birthday and holiday cards each year the day she was killed, she had more than 30 handmade cards ready to mail. She was like a central switching system on the telephone company of life, a childhood friend and fellow journalist wrote in the Chicago Tribune.

The Post-Dispatch covered the search for Picuss killer as the months without an arrest wore on, publishing a detailed list of items police said had been stolen from her home, among them an old Apple laptop belonging to Picuss husband, Dan. But it wasnt until the $10,000 reward was posted that police secured statements from the informants, Cole and Asaro, claiming that Williams had confessed to the murder. Although the reward was supposed to be paid upon conviction, prosecutors encouraged Dan to pay Cole $5,000 upfront when it appeared that his cooperation might be flagging.

Cole and Asaro were the backbone of the prosecutions case at Williamss trial in the summer of 2001. The state painted a harrowing picture of the attack on Picus and cast Williams as a ruthless killer. There was no physical evidence, however, to back up the informants claims. Asaro claimed that Williams had scratches on his face the day of the murder, yet no foreign DNA was recovered from under Picuss fingernails. Cole said Williamss clothes were bloody and that hed stolen a shirt to cover the stains when he left Picuss house, yet no clothes were missing from the home. Bloody shoeprints found at the scene were a different size than Williamss feet. Fingerprints lifted by investigators were deemed unusable by the state and then destroyed before the defense had a chance to analyze them.

There was, however, the Apple laptop, which police ultimately recovered. According to Asaro, Williams gave his grandfathers neighbor the computer in exchange for crack cocaine. At trial, the man denied that account. Hed paid Williams for the laptop, he said. Williams told him that hed gotten the computer from Asaro and was selling it for her. Prosecutors objected to this testimony, so the jury never heard it. Asaro and the man who received the computer have since died.

Like Cole and Asaro, Williams had a rap sheet. Hed been sentenced to decades in prison for robbery and burglary by the time of the murder trial. According to the Post-Dispatch, the jury deliberated for less than 90 minutes, including lunch, before deciding that Williams should be sentenced to die for Picuss murder.

Marcellus Williams in an undated photo.

Attorneys for Williams sought to conduct DNA testing prior to his trial, but the circuit court judge refused. It wasnt until 2015 that Williams was granted permission to test the murder weapon, which revealed a male DNA profile that did not match Williams. Nonetheless, the Missouri Supreme Court dismissed the new evidence and set Williamss execution for August 22, 2017.

The Midwest Innocence Project turned to Greitens, asking that he halt the execution and convene a board of inquiry to investigate the case. On the day Williams was set to die, Greitens issued an executive order granting the request.

A five-member board would be set up to assess the credibility and weight of all evidence in the case, Greitenss order read. The board was given subpoena power and tasked with keeping the information it collected in strict confidence. The order required the board to make a final report and recommendation to the governor as to whether or not Williams should be executed or his sentence of death commuted.

Greitens appointed five retired judges to the investigation, and they got to work. In the years that followed, the Midwest Innocence Project provided the board with a host of information and suggestions for lines of inquiry continuing well after Greitens resigned amid a swirl of controversies the following year and Parson assumed office.

That is until Parson issued his own executive order on June 29, 2023, rescinding Greitenss order. While Parson acknowledged that his predecessor had required a report from the board of inquiry regarding its investigation, the governor made no mention of any findings.

This board was established nearly six years ago, and it is time to move forward, he said. We could stall and delay for another six years, deferring justice, leaving a victims family in limbo, and solving nothing. This administration wont do that.

In 1963, the Missouri legislature passed several criminal justice reforms, including one aimed at avoiding wrongful executions. The states constitution already empowered the governor to grant reprieves, commutations, and pardons, but lawmakers added new authorities, allowing the governor, in his discretion, to appoint a board of inquiry tasked with gathering information bearing on whether a person condemned to death should in fact be executed. Lawmakers set several specific parameters, including that the board shall issue a final report. The law passed that summer and has never been amended.

Although it has been on the books for 60 years, the provision has only been invoked three times, including in the Marcellus Williams case. In 1997, then-Gov. Mel Carnahan stayed the execution of William Boliek, who had been sentenced to die for murdering a witness to a robbery in Kansas City, and ordered a board of inquiry to look into the case. The board submitted its report to Carnahan, but the governor did not act on it before he was killed in a plane crash meaning the case was never resolved. The Missouri Supreme Court subsequently ruled that Carnahan was the only one who could lift the stay, meaning Boliek could never be executed. He remains on Missouris death row.

In an August 2023 civil lawsuit filed in Cole County, where the state capital is located, the Midwest Innocence Project drew on this history to argue that Parson had violated the law by dissolving Greitenss board before it had fulfilled its statutory duty to provide a report and recommendation in Williamss case.

Once the statute was triggered, the governor was bound to uphold its provisions. Parsons order prematurely dissolving the board exceeded the power granted to his office by the legislature some 60 years ago, the lawyers argued. All Mr. Williams is asking is for the board of inquiry to be able to complete its work and issue a report and recommendation, ensuring that at least one government entity finally hears all the evidence of his innocence, said Tricia Rojo Bushnell, the Midwest Innocence Projects executive director. Once the process is complete, Parson can do what he wants, she added. But until that time, Mr. Williams has a right to this process that was started by Gov. Greitens precisely out of the concern that Missouri may execute an innocent person.

Missouri Attorney General Andrew Bailey during a House Homeland Security Committee hearing on Jan. 10, 2024.

Attorney General Andrew Bailey sought to have the lawsuit dismissed outright, but in November, Circuit Court Judge S. Cotton Walker concluded that it should proceed. The statute didnt expressly give Parson the authority to dissolve the board, and Williams had an interest in the process playing out according to the law, he wrote. There is a fundamental difference between the governors authority to appoint a board in his discretion and the boards ongoing existence being discretionary.

Bailey appealed to the Missouri Supreme Court, arguing that the circuit court couldnt tell the governor what to do in matters of clemency. Since the board of inquiry statute references the governors constitutional powers over clemency, Bailey argued, interfering with his ability to dissolve the board was the same as interfering with his clemency powers. Williams was trying to use the court to hijack Parsons authority, he wrote.

The Midwest Innocence Project argued that Baileys position was a red herring: Williams was not looking to interfere with Parsons authority on matters of clemency; he was merely asking that the governor be required to follow the statute in his decision-making. To find otherwise would be violating the separation of powers in the other direction: allowing the governor to rewrite a decades-old act of the legislature. The governors position, the lawyers wrote, has it backward.

The governors clemency power exists for the public good, not his own, the defense brief reads. As a result, a board of inquiry serves the public, not the governor, and that board shall make a report and recommendation for the governors consideration before he makes a final clemency decision.

There is no timeline for the Missouri Supreme Court to rule.

Meanwhile, the Conviction and Incident Review Unit at the St. Louis County Prosecuting Attorneys Office has also reached out to the court, asking that it refrain from setting a date for Williamss execution for an initial period of six months. The office has also been investigating Williamss case and needs more time to decide whether it will seek to vacate his sentence on its own a power granted to state prosecutors under a newer, but also rarely used, Missouri law.

Marcellus Williams remains grateful to Greitens for staying his execution and invoking the board of inquiry statute. He told the Kansas City Star that he grew up basically like a typical misguided youth, bouncing in and out of juvenile detention. He had just started serving a 20-year sentence for robbing a doughnut shop when he was charged with Picuss killing. He knew he hadnt done it and said that despite his experience with the criminal justice system, he thought the mistake would be discovered and corrected. You still have this naivete right there that youre not really recognizing who youre up against.

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Ancient DNA From Eurasian Herders Sheds Light on the Origins of Multiple Sclerosis – Smithsonian Magazine

Posted: at 9:17 pm

Genes that significantly increase risk of developing multiple sclerosis were introduced to northwestern Europe by herders who migrated from the east around 5,000 years ago. SayoStudio

More than 1.8 million people around the world have the autoimmune disease multiple sclerosis (MS). The condition, in which a persons immune system attacks their brain and spinal cord, is most common in northern Europe, but researchers havent been entirely sure why.

A new study of ancient DNA, published Wednesday in the journal Nature, sheds light on this trend, suggesting herders who migrated to Europe from western Eurasia around 5,000 years ago carried genetic variants linked to MS. These variants grew in prevalence at the time and contribute to an increased risk for the disease today, the paper authors write.

This is a tour de force, Llus Quintana-Murci, a population geneticist at the Pasteur Institute in Paris who did not contribute to the findings, tells Nature News Sara Reardon.

The study accompanies three othernewpapers in Nature investigating ancient DNA in Europe and Asia. One of those found that genes linked to an increased risk for diabetes and Alzheimers disease were carried by hunter-gatherers.

Processes that were occurring many thousands of years ago are having these really pronounced and profound effects on the health and longevity of people in the present, Evan Irving-Pease, an author of all four of the studies and a population geneticist at the University of Copenhagen in Denmark, tells the Washington Posts Carolyn Y. Johnson.

Researchers explored this history by sequencing ancient genomes and comparing them to modern DNA. The team examined ancient DNA from bones and teeth dating to the Mesolithic period and Bronze Age, as well as new genomes collected from Medieval times. They studied this data against DNA from 410,000 white British people included in the modern U.K. Biobank.

Major migrations had a strong impact on genetic diversity in western Eurasia, the authors write. Hunter-gatherers entered the picture around 45,000 years ago, farmers came from the Middle East around 11,000 years ago and herders migrated from the Pontic Steppe, a grassland region in the Balkans and western Asia, around 5,000 years ago.

These herders, known as the Yamnaya, rode horses and drove ox-drawn carts, writes Science News Bruce Bower. And they buried their dead with gold and jewelry, per the New York Times Carl Zimmer. Most people in northern Europe today can trace their ancestry to this group.

The researchers found that variants linked to MS arose around 5,000 years ago in the Yamnaya, who spread their genes when they got to northern Europe. These variants increased in prevalence for the steppe population, and later, in the European population, which signaled to the scientists that that they might have provided an evolutionary advantage.

These variants that are causing the high risk of multiple sclerosis today must in the past have had a benefit, Eske Willerslev, a geneticist at the University of Copenhagen and a leader of the research, tells the New York Times.

Such variants could have helped ancient people fight off pathogens, the researchers theorize. The overly active immune system associated with multiple sclerosis could have actually been beneficial for surviving plagues, Willerslev tells Nature News. In particular, the MS-associated variants could have protected the Yamnaya herders against diseases carried by their horses, sheep, cattle and goats.

The situation today is different, because the diseases these variants originally provided protection against are no longer as big a problem as they likely were then, Lars Fugger, a co-author on the MS paper who studies the disease at the University of Oxford in the U.K., said at a news briefing, per Medpage Todays Judy George. Because in the intervening millennia, we have antibiotics, vaccinations and far, far higher standards of hygiene than people had thousands of years ago. The risk genes are now miscast in terms of their original biological role.

Previous studies have found a couple hundred common genetic variants that are linked to MS, and 30 percent of the risk for the disease is thought to come from genetic factors, the study authors write.

Samira Asgari, a computational biologist at the Icahn School of Medicine at Mount Sinai who was not involved in the research, tells the Washington Post the theory that the variants identified in the study protect against infection is reasonable. But she notes that its still a hypothesis.

Thats the part more research is needed to prove, Asgari tells the publication.

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Ancient DNA From Eurasian Herders Sheds Light on the Origins of Multiple Sclerosis - Smithsonian Magazine

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DNA’s hotel toh kuyabeh mirrors bird flight undulations in tulum – Designboom

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Toh Kuyabeh, a new holistic boutique hotel concept in tulum

Spanish architecture practice DNA introduces Toh Kuyabeh, a new concept for a holistic boutique hotel nested amid Tulums lush nature, with a focus on body-mind-soul harmony. Developed for the KUYABEH Sustainable Ecological Community in Mexico, the project draws inspiration from the Toh bird, guided by its shapes, feathers, and radial flight to design a unique structure that embrace the tropical terrain, providing unparalleled panoramic views of the lagoon and a central distribution.

all renders DNA Barcelona

The HotelToh Kuyabeh design by DNA Barcelona (see more here) departs from three volumes containing the architectural program. Thirty-five rooms interconnect in a circular arrangement under a undulating roof recalling bird flight patterns, providing a visual spectacle of the Tohs colors and enhancing movement with reflections in the water. At the center, two levels house different amenities; the first includes a spa and meeting rooms, while the second features a restaurant and terraces. This distribution of standout volumes not only ensures privacy but also offers scenic views from any point in the resort.

Hotel Toh Kuyabeh is an ode to the Toh birds feathers, shape, and flight

In addition to its unique design, the hotel incorporates sustainable practices, namely solar-paneled roofs for renewable energy generation, collecting rainwater, achieving natural ventilation through efficient skin and roof systems. Furthermore, the architects propose a native construction system, adapted to regional traditional techniques, and a dry construction method, to maximize efficiency and green building. The choice of natural and native materials reflects the projects commitment to bio-compatibility and sustainability, comments DNA Barcelona.

a new concept for a holistic boutique resort nested amid Tulums lush nature

using native construction systems as sustainable practices

a pedestrian bridge connecting the different volumes

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DNA's hotel toh kuyabeh mirrors bird flight undulations in tulum - Designboom

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Research into ancient DNA sheds new light on cause of Multiple Sclerosis and other neurodegenerative diseases – University of Oxford

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Research led by scientists at the Universities of Oxford, Cambridge, Copenhagen, Bristol and California (Berkeley) reveals the evolutionary origins of multiple sclerosis (MS). This new insight into the genetic architecture of this disease changes scientists view of its causes and has implications for its treatment, as well as paving the way for further investigations into other diseases.

Affecting 1 in 1,000 people, multiple sclerosis (MS) is an autoimmune disease in which the body's immune system attacks its own brain and spinal cord. Northern Europe has the highest prevalence of MS in the world.

The new research published in Nature draws on analysis of the DNA of ancient human bones and teeth held in museum collections across Europe and Western Asia. It reveals that a major migration of pastoralist herders known as the Yamnaya people from from the Pontic Steppe (a region spanning parts of what are now Ukraine, South-West Russia and the West Kazakhstan) into Western Europe 5,000 years ago introduced genetic variants into the population.

These new variants provided an advantage to the people carrying them at the time, probably by providing protection against infectious diseases in their domesticated animals. In today's modern environment, however, these same genetic variants increase the risk of developing MS.

To show this, the research team compared data held in a unique gene bank of ancient DNA to the UK Biobank, a large-scale biomedical database and research resource containing genetic, lifestyle and health information and biological samples from half a million UK participants. The research was funded by a 8M grant from the Lundbeck Foundation.

The new insights into the genetic factors behind MS are helping to demystify the disease, which is crucial, stresses co-author Professor Lars Fugger of the MRC Weatherall Institute of Molecular Medicine and Nuffield Department of Clinical Neurosciences at the University of Oxford.

'This is very important from the perspective of both patients and doctors. Because it means that we can do away with the conventional perception of MS, which defines the disease in terms of the impairments it causes, and instead understand and seek to treat MS for what it actually is: the result of a genetic adaptation to certain environmental conditions that occurred back in our prehistory and which has endured in our DNA, even though the environmental conditions have changed hugely in the time between then and now,' Professor Fugger explains.

For more than three decades, as a professor and consultant physician at the Oxford University Hospitals NHS Foundation Trust, Professor Fugger has been conducting research into MS and treating patients with immune-mediated disorders. So far, 233 MS-genetic risk variants have been mapped. The findings presented in the new paper show that many of these genetic variants provided protection against infectious diseases. There is no immediate indication that they held any disadvantage at that time, Fugger explains:

'The situation today is different because the diseases these variants originally provided protection against are no longer as big a problem as they likely were then. Because in the intervening millennia, we have antibiotics, vaccinations and far, far higher standards of hygiene than people had thousands of years ago. Thus, the risk genes are now "miscast" in terms of their original biological role.'

Science so far has 'only an incomplete understanding of why individuals develop MS', co-author Professor Astrid Iversen explains. A professor of virology and immunology at the MRC WIMM and Nuffield Department of Clinical Neurosciences at the University of Oxford, her research concerns the evolutionary processes in the development of the human immune response to challenges from pathogens, meaning the bacteria and viruses that cause disease.

Based on archaeological DNA, Professor Iversen is also investigating how pathogens interacting with environmental and lifestyle factors ever since the the Last Ice Age have impacted the immune system of present-day individuals and their genetic susceptibility to certain diseases, including autoimmune diseases like MS, which have been on the rise over the last 50 years.

'The selection process involving the human immune system is ongoing, meaning it is also happening right now,' explains Professor Iversen, adding: 'The individuals who have immune system genes that allow them to fight off the combination of infectious diseases they are exposed to in life will have children who pass on those same immune system genes. This is why the immune system in all present-day individuals is also, genetically speaking, the product of selection processes our ancestors underwent. But because we now lead very different lives to those of our ancestors in terms of hygiene, diet, medical treatment options for, for example, some parasitic diseases, as a result of our evolutionary history, we may, in some respects be more susceptible to certain diseases than our ancestors were, including autoimmune diseases such as MS.'

Professor Fugger explains how the research findings hold some promise for future treatment: 'MS is an autoimmune disease, and a lot of the drugs we currently use to treat it target the immune system. The downside is that we risk suppressing the immune system so effectively that patients are less well equipped to fight infections.

'What we need is an approach whereby we can learn from more studies on the genetic background of MS how to 'recalibrate' the immune system in patients. This would allow their immune system to play an active role in suppressing the disease. While that's not just around the corner, it's still what we should be aiming for in terms of research.'

This MS study demonstrates that the large ancient human genome data sets, combined with analyses of present-day DNA and input from a number of other research fields, serve as a scientific precision tool capable of providing new insights into diseases.

The international research team now plans to investigate other neurological conditions including Parkinson's and Alzheimer's diseases, and psychiatric disorders including ADHD and schizophrenia.

The paper, 'Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations', is published in Nature.

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Research into ancient DNA sheds new light on cause of Multiple Sclerosis and other neurodegenerative diseases - University of Oxford

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Ancient DNA reveals reason for high MS and Alzheimer’s rates in Europe – University of Cambridge news

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Past human gene pools of western Eurasia

In Nature paper (3) the researchers including Morten Allentoft, Professor at Curtin University, Australia and Lundbeck Foundation GeoGenetics Centre at UCPH, Martin Sikora, Associate Professor at the Lundbeck Foundation GeoGenetics Centre at UCPH, andKristian Kristiansen, Professor of Archaeology at the University of Gothenburg, Sweden, show that genetic differences between ancient populations in western Eurasia were substantially higher than previously estimated, and also much higher than observed in present-day populations.

In Nature paper (4) the team reports findings that overturn the commonly-held view that the ancestors of present-day Danes were Stone Age hunter-gatherers.

The team, including Professor Kristian Kristiansen and Dr Anders Fischer, both affiliated with the Lundbeck Foundation GeoGenetics Centre at UCPH, analysed DNA from 100 skeletons of the prehistoric inhabitants of the region now known as Denmark, who lived between 10,000 years ago and 2,700 years ago.

They found that since the last Ice Age around 12,000 years ago, Denmark has experienced two near-total population turnover events, the second of which is still evident in the gene pool of present-day Scandinavia.

Around 5,900 years ago at the dawn of the Neolithic Age, a group of farmers with genetic roots in Anatolia - the Asian part of present-day Turkey brought a new farming culture to Denmark. The resulting changes in diet were clear in analysis of the ancient bones, and show that these farmers completely replaced the hunter-gatherers living in the region.

Then, around 5,000 years ago, the Yamnaya arrived and eliminated the Anatolian farmers. The Yamnaya people are the closest ancestors of present-day ethnic Danes.

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Ancient DNA reveals reason for high MS and Alzheimer's rates in Europe - University of Cambridge news

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