- Environmental stress rather than genetics influenced height differences in early Neolithic people: Study Phys.org
- Cultural Practices Helped Make Women Shorter than Men in Neolithic Times Ancient Origins
- The large height difference between the sexes suggests that in northern Europe boys were fed better than girls EL PAÍS USA
- Socio-cultural practices may have affected sex differences in stature in Early Neolithic Europe Nature.com
- Differences between male and female height in Early Neolithic Europe are likely to have been driven by culture Nature.com
Tag Archives: Genetics
Environmental stress rather than genetics influenced height differences in early Neolithic people: Study – Phys.org
- Environmental stress rather than genetics influenced height differences in early Neolithic people: Study Phys.org
- Cultural Practices Helped Make Women Shorter than Men in Neolithic Times Ancient Origins
- The large height difference between the sexes suggests that in northern Europe boys were fed better than girls EL PAÍS USA
- Socio-cultural practices may have affected sex differences in stature in Early Neolithic Europe Nature.com
- Differences between male and female height in Early Neolithic Europe are likely to have been driven by culture Nature.com
A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection | European Journal of Human Genetics – Nature.com
- A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection | European Journal of Human Genetics Nature.com
- Inhaled monoclonal antibodies found to be protective against COVID-19, show promise for at-home aerosolized therapy Medical Xpress
- Researchers identify a ‘Threshold of Immunity’ to SARS-CoV-2 News-Medical.Net
- New inhaled monoclonal antibodies may help fight COVID, flu Gulf News
- New research identifies a threshold of immunity for COVID-19 Medical Xpress
- View Full Coverage on Google News
Newly Discovered VEXAS Syndrome May Affect Thousands More Americans Than Thought
The patient, Hector Campos, came into the emergency department with shortness of breath, erratic fever, and swollen, itchy ears. His wife explained that Campos had tested negative for COVID-19. “What do you think this might be?” Campos asked the chief of emergency medicine, Ethan Choi, who was similarly befuddled by the man’s symptoms.
Scary, right? But it’s not real—Campos and Choi are both characters on the NBC medical drama Chicago Med. Over the course of the episode, which aired in March 2021, Choi initially misdiagnoses Campos’ symptoms as pneumonia and a bacterial infection, but a test comes back for widespread inflammation. Campos’ condition rapidly deteriorates, and the team of doctors is mystified until fellow ER surgeon Dean Archer suggests it might be VEXAS, a rare autoinflammatory syndrome. Genetic sequencing ultimately finds a mutation confirming the diagnosis, and Choi begins treating the patient.
The episode is fictional, but depictions like this one are surprisingly accurate to real-life cases of VEXAS, said David Beck, a clinical genetics researcher at New York University Grossman School of Medicine. “In terms of clinical manifestations,” he told The Daily Beast, “they’ve been spot on.” Beck ought to know: He and his colleagues first named the syndrome in a study published in The New England Journal of Medicine in 2020. “I’ve been impressed, actually, with depictions in popular media, because [it shows] they’ve read the paper.”
Even so, these representations of VEXAS syndrome tend to highlight severe cases, in part because the NEJM paper did, too. Of the 25 cases the researchers studied, 10 of the patients died from VEXAS-related causes.
But more recent research has expanded the case definition of VEXAS to include a milder side. In a paper published in JAMA on Jan. 24, Beck and his colleagues scanned genetic sequencing readings from more than 160,000 people to determine how common VEXAS syndrome really is, and how its symptoms manifest in patients. The research team found that nine male patients and two female patients in their study had mutations that caused VEXAS.
And as a result, the researchers estimated that the syndrome affects about 13,200 men and 2,300 women over age 50 in the U.S. alone.
“It’s thrilling to go from trying to understand a few patients to finding that the same genetic cause and the same disease is found in tens of thousands of individuals,” Beck said. “Not just because we know that there are many patients out there who are suffering, who don’t get a diagnosis, or who don’t get the treatment that can help them and just taking a step in that direction; it’s also very surprising that you can still make these sort of discoveries despite all of the biomedical research going on.”
VEXAS is an acronym that stands for several key features of the syndrome. In every case of the syndrome, a patient has a genetic mutation coding for the enzyme E1. The mutation occurs on a gene on the X chromosome, which as you might recall from biology class, is a sex chromosome—men only have one, making them more prone to coming down with VEXAS. And the mutation is somatic, which means it is acquired during life as opposed to being inherited from a parent. That last feature, which gives VEXAS its “S,” is crucial: Because VEXAS is caused by a somatic mutation, the syndrome isn’t passed down and only occurs in older patients, typically over the age of 50, Beck said.
This type of research, Beck emphasized, has been made possible by recent advances in genetic sequencing that make it readily available and affordable to patients. The participants in the study all sought care at a Geisinger health care facility in central and northeastern Pennsylvania between 1996 and 2022. As part of a collaboration between Geisinger and the Regeneron Genetics Center to map genetic variation across the human genome, the participants’ exomes—regions of their genomes that encode proteins—were sequenced.
“I’ve been impressed, actually, with depictions in popular media, because [it shows] they’ve read the paper.”
— David Beck, New York University Grossman School of Medicine
All of the 11 participants found to have mutations in the gene for the E1 enzyme were anemic and the vast majority had abnormally large red blood cells and a low platelet count—all symptoms consistent with VEXAS syndrome. Importantly, though, some of the more severe symptoms associated with VEXAS, like inflammation in the cartilage (which caused Campos’ swollen ears), were not present in these patients. This suggests that there may be a broader spectrum of severity when it comes to cases of VEXAS syndrome.
One other puzzling aspect of the study was the fact that the two women retrospectively identified as having VEXAS syndrome only suffered from the VEXAS-related mutation on one of their X chromosomes, not both. “It’s confusing for us,” since originally the researchers thought that VEXAS only affected men, Beck said. “We’ve been slowly recognizing more females that have the disease, and we don’t understand why that is.” One phenomenon at play could be X-inactivation, a process in which one of a female’s two X chromosomes is silenced throughout their cells.
The researchers wrote in the study that future analyses will be critical to understanding the prevalence of the syndrome in diverse populations, since 94 percent of the participants in the Geisinger cohort were white.
Currently, there are no treatments for VEXAS approved by the Food and Drug Administration, but a phase II clinical trial is underway to study whether blood stem cell transplants can treat or cure the syndrome. In 2022, a team of French researchers published a study suggesting that such a transplant can lead to complete remission, but such a procedure is not without its risks.
On the research side, Beck said that scientists are still trying to figure out how a mutation in the gene that encodes E1 leads to the widespread inflammation seen in cases of VEXAS. This enzyme starts a process for a cell to eliminate proteins it no longer needs, and further research is ongoing to determine how a dysfunctional E1 enzyme impacts this process.
“If you’re an older individual with systemic inflammation, low blood counts, don’t have any clear diagnosis, and you require steroids but don’t have any clear diagnosis,” you should contact your doctor about genetic testing for VEXAS syndrome, Beck said.
“It may help lead to better treatments for you—and at least a clear diagnosis,” he said.
Origins of plague could have emerged centuries before outbreaks, study suggests
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In the largest DNA analysis of its kind, scientists have found evidence to suggest that historic plague pandemics, such as the Black Death, were not caused by newly evolved strains of bacteria but ones that could have emerged up to centuries before their outbreaks.
The plague-causing bacterium Yersinia pestis is dated to have first emerged in humans about 5,000 years ago. Through animals and trade routes, Y. pestis spread globally over time on multiple occasions, according to a study published Thursday in the journal Communications Biology.
It caused the first plague pandemic in the sixth to eighth centuries and the second one in the 14th to 19th centuries. The latter pandemic is thought to have started with the medieval Black Death outbreak, which is estimated to have killed more than half of Europe’s population. The bacterium also caused the third plague pandemic between the 19th and 20th centuries.
By amassing 601 Y. pestis genome sequences, including modern and ancient strains, researchers from Canada and Australia were able to calculate the time when the bacterial strains likely emerged as a threat. They divided the different strains of the plague bacterium and analyzed each strain population individually.
The strain responsible for the Black Death, which the study says is thought to have begun in 1346, was newly estimated to have diverged from an ancestral strain between 1214 and 1315 — up to 132 years earlier.
The strain of Y. pestis associated with the first plague pandemic was previously recorded as first appearing during the Plague of Justinian, which began in 541. However, the researchers estimated that the strain was already present between 272 and 465 — up to almost 270 years before the outbreak.
“It shows that each major plague pandemic has likely emerged many decades to centuries earlier than what the historical record suggests,” study coauthor and evolutionary geneticist Hendrik Poinar, director of McMaster University’s Ancient DNA Centre in Canada, told CNN via email Thursday.
He added that the bacterium emerged, created small epidemics and then “for reasons we don’t quite understand,” such as famine or war, “it takes off.”
The study authors estimated that individually assessed bacterial strains from the third plague pandemic diverged from an ancestral strain between 1806 and 1901, with highly localized plague cases beginning to appear in southern China between 1772 and 1880 and later diverging into various strains that spread globally out of Hong Kong between 1894 and 1901.
The study also found evidence to support recent academic research suggesting that the third and second plague pandemics were not mutually exclusive events, but that the third was partly the continuation or tail end of the second. Despite the pandemics having their own diverse genetic lineages that evolved differently, the third descended directly from the 14th century strain that caused the second.
Poinar called this finding significant because “it takes into account that most of the history of this bacterium has been a Eurocentric view, so while plague supposedly disappeared from Europe in the 18th (century), it continued to rage in the Ottoman Empire and throughout the Middle East and likely North Africa.”
However, even with so many sequences of the plague bacterium, researchers were not able to determine the path of the global spread of the plague.
A lot of the genetic samples come from Europe. For example, the emergence of the bacterium in Africa has led to 90% of all modern plague cases occurring on the continent, yet there are no ancient sequences from the region, which is represented by just 1.5% of all genome samples — making it difficult to date the appearance of Y. pestis in Africa.
There is also far less surviving historical evidence from the second plague pandemic to help estimate its geographic origins compared with the third, with the earliest textual evidence of the pandemic in Europe coming from the Black Death in 1346, the study authors said. The researchers estimated that the second pandemic originated in Russia.
A study published in the journal Nature in June used DNA analysis to find the plague bacterium in three individuals who are dated to have died in 1338 in what’s now Kyrgyzstan in Central Asia. It provided evidence that the Black Death came from a strain originating in the area near Lake Issyk-Kul in Kyrgyzstan in the early 14th century.
The latest study concluded that more ancient DNA will be needed to refine current estimates on the early events of the second pandemic.
Via email, Poinar described the strain from Kyrgyzstan as “really fascinating” but said that it “still doesn’t sit at the root. So I would guess we’re still looking for something a good 20-50 years earlier.”
He and the other authors noted that the only way to estimate the evolution of the plague bacterium strains precisely “is with well dated sequences, such as those from skeletal remains at Lake Issyk-Kul.”
Aging can be reversed in mice. Are people next?
CNN
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In Boston labs, old, blind mice have regained their eyesight, developed smarter, younger brains and built healthier muscle and kidney tissue. On the flip side, young mice have prematurely aged, with devastating results to nearly every tissue in their bodies.
The experiments show aging is a reversible process, capable of being driven “forwards and backwards at will,” said anti-aging expert David Sinclair, a professor of genetics in the Blavatnik Institute at Harvard Medical School and codirector of the Paul F. Glenn Center for Biology of Aging Research.
Our bodies hold a backup copy of our youth that can be triggered to regenerate, said Sinclair, the senior author of a new paper showcasing the work of his lab and international scientists.
The combined experiments, published for the first time Thursday in the journal Cell, challenge the scientific belief aging is the result of genetic mutations that undermine our DNA, creating a junkyard of damaged cellular tissue that can lead to deterioration, disease and death.
“It’s not junk, it’s not damage that causes us to get old,” said Sinclair, who described the work last year at Life Itself, a health and wellness event presented in partnership with CNN.
“We believe it’s a loss of information — a loss in the cell’s ability to read its original DNA so it forgets how to function — in much the same way an old computer may develop corrupted software. I call it the information theory of aging.”
Jae-Hyun Yang, a genetics research fellow in the Sinclair Lab who coauthored the paper, said he expects the findings “will transform the way we view the process of aging and the way we approach the treatment of diseases associated with aging.”
While DNA can be viewed as the body’s hardware, the epigenome is the software. Epigenes are proteins and chemicals that sit like freckles on each gene, waiting to tell the gene “what to do, where to do it, and when to do it,” according to the National Human Genome Research Institute.
The epigenome literally turns genes on and off. That process can be triggered by pollution, environmental toxins and human behaviors such as smoking, eating an inflammatory diet or suffering a chronic lack of sleep. And just like a computer, the cellular process becomes corrupted as more DNA is broken or damaged, Sinclair said.
“The cell panics, and proteins that normally would control the genes get distracted by having to go and repair the DNA,” he explained. “Then they don’t all find their way back to where they started, so over time it’s like a Ping-Pong match, where the balls end up all over the floor.”
In other words, the cellular pieces lose their way home, much like a person with Alzheimer’s.
“The astonishing finding is that there’s a backup copy of the software in the body that you can reset,” Sinclair said. “We’re showing why that software gets corrupted and how we can reboot the system by tapping into a reset switch that restores the cell’s ability to read the genome correctly again, as if it was young.”
It doesn’t matter if the body is 50 or 75, healthy or wracked with disease, Sinclair said. Once that process has been triggered, “the body will then remember how to regenerate and will be young again, even if you’re already old and have an illness. Now, what that software is, we don’t know yet. At this point, we just know that we can flip the switch.”
The hunt for the switch began when Sinclair was a graduate student, part of a team at the Massachusetts Institute of Technology that discovered the existence of genes to control aging in yeast. That gene exists in all creatures, so there should be a way to do the same in people, he surmised.
To test the theory, he began trying to fast-forward aging in mice without causing mutations or cancer.
“We started making that mouse when I was 39 years old. I’m now 53, and we’ve been studying that mouse ever since,” he said. “If the theory of information aging was wrong, then we would get either a dead mouse, a normal mouse, an aging mouse or a mouse that had cancer. We got aging.”
With the help of other scientists, Sinclair and his Harvard team have been able to age tissues in the brain, eyes, muscle, skin and kidneys of mice.
To do this, Sinclair’s team developed ICE, short for inducible changes to the epigenome. Instead of altering the coding sections of the mice’s DNA that can trigger mutations, ICE alters the way DNA is folded. The temporary, fast-healing cuts made by ICE mimic the daily damage from chemicals, sunlight and the like that contribute to aging.
ICE mice at one year looked and acted twice their age.
Now it was time to reverse the process. Sinclair Lab geneticist Yuancheng Lu created a mixture of three of four “Yamanaka factors,” human adult skin cells that have been reprogrammed to behave like embryonic or pluripotent stem cells, capable of developing into any cell in the body.
The cocktail was injected into damaged retinal ganglion cells at the back of the eyes of blind mice and switched on by feeding mice antibiotics.
“The antibiotic is just a tool. It could be any chemical really, just a way to be sure the three genes are switched on,” Sinclair told CNN previously. “Normally they are only on in very young, developing embryos and then turn off as we age.”
The mice regained most of their eyesight.
Next, the team tackled brain, muscle and kidney cells, and restored those to much younger levels, according to the study.
“One of our breakthroughs was to realize that if you use this particular set of three pluripotent stem cells, the mice don’t go back to age zero, which would cause cancer or worse,” Sinclair said. “Instead, the cells go back to between 50% and 75% of the original age, and they stop and don’t get any younger, which is lucky. How the cells know to do that, we don’t yet understand.”
Today, Sinclair’s team is trying to find a way to deliver the genetic switch evenly to each cell, thus rejuvenating the entire mouse at once.
“Delivery is a technical hurdle, but other groups seem to have done well,” Sinclair said, pointing to two unpublished studies that appear to have overcome the problem.
“One uses the same system we developed to treat very old mice, the equivalent of an 80-year-old human. And they still got the mice to live longer, which is remarkable. So they’ve kind of beaten us to the punch in that experiment,” he said.
“But that says to me the rejuvenation is not just affecting a few organs, it’s able to rejuvenate the whole mouse because they’re living longer,” he added. “The results are a gift and confirmation of what our paper is saying.”
What’s next? Billions of dollars are being poured into anti-aging, funding all sorts of methods to turn back the clock.
In his lab, Sinclair said his team has reset the cells in mice multiple times, showing that aging can be reversed more than once, and he is currently testing the genetic reset in primates. But decades could pass before any anti-aging clinical trials in humans begin, get analyzed and, if safe and successful, scaled to the mass needed for federal approval.
But just as damaging factors can disrupt the epigenome, healthy behaviors can repair it, Sinclair said.
“We know this is probably true because people who have lived a healthy lifestyle have less biological age than those who have done the opposite,” he said.
His top tips? Focus on plants for food, eat less often, get sufficient sleep, lose your breath for 10 minutes three times a week by exercising to maintain your muscle mass, don’t sweat the small stuff and have a good social group.
“The message is every day counts,” Sinclair said. “How you live your life even when you’re in your teens and 20s really matters, even decades later, because every day your clock is ticking.”
Scientists Make Progress in Decoding Genetics of Insomnia
Summary: Researchers identify the role the Pig-Q gene plays in sleep regulation. Mutations of the Pig-Q gene increase sleep.
Source: Texas A&M
A research effort involving researchers from Texas A&M University, the Perelman School of Medicine at the University of Pennsylvania and Children’s Hospital of Philadelphia (CHOP) has used human genomics to identify a new genetic pathway involved in regulating sleep from fruit flies to humans—a novel insight that could pave the way for new treatments for insomnia and other sleep-related disorders.
Texas A&M geneticist and evolutionary biologist Alex Keene collaborated with Penn’s Allan Pack and Philip Gehrman and CHOP’s Struan Grant on the groundbreaking research, which is published in Science Advances.
“There have been enormous amounts of effort to use human genomic studies to find sleep genes,” Keene said.
“Some studies have hundreds of thousands of individuals. But validation and testing in animal models is critical to understanding function. We have achieved this here, largely because we each bring a different area of expertise that allowed for this collaboration’s ultimate effectiveness.”
Keene says the most exciting thing about the team’s work is that they developed a pipeline starting not with a model organism, but with actual human genomics data.
“There is an abundance of human genome-wide association studies (GWAS) that identify genetic variants associated with sleep in humans,” Keene said.
“However, validating them has been an enormous challenge. Our team used a genomics approach called variant-to-gene mapping to predict the genes impacted by each genetic variant. Then we screened the effect of these genes in fruit flies.
“Our studies found that mutations in the gene Pig-Q, which is required for the biosynthesis of a modifier of protein function, increased sleep. We then tested this in a vertebrate model, zebrafish, and found a similar effect. Therefore, in humans, flies and zebrafish, Pig-Q is associated with sleep regulation.”
Keene says the team’s next step is to study the role of a common protein modification, GPI-anchor biosynthesis, on sleep regulation. In addition, he notes that the human-to-fruit flies-to-zebrafish pipeline the team developed will allow them to functionally assess not only sleep genes but also other traits commonly studied using human GWAS, including neurodegeneration, aging and memory.
“Understanding how genes regulate sleep and the role of this pathway in sleep regulation can help unlock future findings on sleep and sleep disorders, such as insomnia,” said Gehrman, an associate professor of clinical psychology in psychiatry at Penn and a clinical psychologist with the Penn Chronobiology and Sleep Institute.
“Moving forward, we will continue to use and study this system to identify more genes regulating sleep, which could point in the direction of new treatments for sleep disorders.”
Keene’s research within his Center for Biological Clocks Research-affiliated laboratory lies at the intersection of evolution and neuroscience, with primary focus on understanding the neural mechanisms and evolutionary underpinnings of sleep, memory formation and other behavioral functions in fly and fish models.
Specifically, he studies fruit flies (Drosophila melanogaster) and Mexican cavefish that have lost both their eyesight and ability to sleep with the goal of identifying the genetic basis of behavioral choices which factor into human disease, including obesity, diabetes and heart disease.
About this genetics and insomnia research news
Author: Shana K. Hutchins
Source: Texas A&M
Contact: Shana K. Hutchins – Texas A&M
Image: The image is in the public domain
See also
Original Research: Open access.
“Variant-to-gene-mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as novel regulator of sleep” by Justin Palermo et al. Science Advances
Abstract
Variant-to-gene-mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as novel regulator of sleep
Genome-wide association studies (GWAS) in humans have identified loci robustly associated with several heritable diseases or traits, yet little is known about the functional roles of the underlying causal variants in regulating sleep duration or quality.
We applied an ATAC-seq/promoter focused Capture C strategy in human iPSC-derived neural progenitors to carry out a “variant-to-gene” mapping campaign that identified 88 candidate sleep effector genes connected to relevant GWAS signals.
To functionally validate the role of the implicated effector genes in sleep regulation, we performed a neuron-specific RNA interference screen in the fruit fly, Drosophila melanogaster, followed by validation in zebrafish. This approach identified a number of genes that regulate sleep including a critical role for glycosylphosphatidylinositol (GPI)–anchor biosynthesis.
These results provide the first physical variant-to-gene mapping of human sleep genes followed by a model organism–based prioritization, revealing a conserved role for GPI-anchor biosynthesis in sleep regulation.
Idaho murders: Suspect in student killings was seen multiple times wearing gloves, also placing garbage bags outside Pennsylvania home, source says
CNN
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The man accused of murdering four University of Idaho students in November had thoroughly cleaned the interior and exterior of his car and was also seen wearing surgical gloves multiple times before being apprehended, a law enforcement source tells CNN.
Bryan Kohberger, 28, is currently the sole suspect in the gruesome stabbings of students Kaylee Goncalves, 21; Madison Mogen, 21; Xana Kernodle, 20; and Ethan Chapin, 20, who were found dead inside their off-campus house in Moscow, Idaho, on November 13.
Kohberger, who was pursuing a PhD in criminal justice at Washington State University at the time of the killings, “cleaned his car, inside and outside, not missing an inch,” according to the law enforcement source.
The source, who spoke on the condition of anonymity, was briefed on observations made by investigators during four days of surveillance leading up to Kohberger’s arrest at his family’s Pennsylvania home on December 30.
As Kohberger now remains behind bars in Idaho awaiting his January 12 status hearing, new details have emerged elucidating some of the suspect’s movements in the days leading up to his arrest.
A surveillance team assigned to Kohberger was tasked with two missions, according to multiple law enforcement sources: keep eyes on Kohberger so they could arrest him as soon as a warrant was issued, and try to obtain an object that would yield a DNA sample from Kohberger, which could then be compared to DNA evidence found at the crime scene.
Kohberger was seen multiple times outside the Pennsylvania home wearing surgical gloves, according to the law enforcement source.
In one instance prior to Kohberger’s arrest, authorities observed him leaving his family home around 4 a.m. and putting trash bags in the neighbors’ garbage bins, according to the source. At that point, agents recovered garbage from the Kohberger family’s trash bins and what was observed being placed into the neighbors’ bins, the source said.
The recovered items were sent to the Idaho State Lab, per the source.
Last Friday, a Pennsylvania State Police SWAT team then moved in on the Kohberger family home, breaking down the door and windows in what is known as a “dynamic entry” – a tactic used in rare cases to arrest “high risk” suspects, the source added.
On Thursday, Kohberger had his initial court appearance in Idaho after he was booked into the Latah County jail Wednesday night following his extradition from Pennsylvania.
Kohberger is charged with four counts of first-degree murder and one count of burglary. He did not enter a plea at the hearing.
Authorities spent nearly two months investigating before they were able to name publicly a suspect, a task that grabbed national attention and rattled the victims’ loved ones as well as the community – which had not recorded a murder in years.
Still, the public’s view of the case remains mired with questions. As of late Thursday, it remains unclear what motivated the killings. It’s also unclear how the suspect entered the house after authorities said there was no sign of forced entry or why two roommates who were inside the residence at the time of the killings survived the attacks.
Here’s how investigators narrowed the search to Kohberger:
- DNA: Trash recovered from Kohberger’s family home revealed that the “DNA profile obtained from the trash” matched a tan leather knife sheath found “laying on the bed” of one of the victims, according to a probable cause affidavit released Thursday. The DNA recovered from the trash “identified a male as not being excluded as the biological father” of the suspect whose DNA was found on the sheath. “At least 99.9998% of the male population would be expected to be excluded from the possibility of being the suspect’s biological father,” the affidavit said.
- Phone records: Authorities found the suspect’s phone was near the victims’ Moscow, Idaho, home at least a dozen times between June 2022 to the present day, according to the affidavit. The records also reveal Kohberger’s phone was near the crime scene hours after the murders that morning between 9:12 a.m. and 9:21 a.m, the document says. The killings were not reported to authorities until just before noon.
- A white sedan: A Hyundai Elantra was seen near the victims’ home around the time of their killings. Officers at Washington State University identified a white Elantra and later learned it was registered to Kohberger. The same car was also found at the suspect’s Pennsylvania family home when he was arrested last Friday. The suspect’s university is about a 10-minute drive from the Idaho crime scene.
One of two roommates who were not harmed in the attacks said she saw a masked man dressed in black inside the house on the morning of the killings, according to the probable cause affidavit.
Identified as D.M. in the court document, the roommate said she “heard crying” in the house that morning and also heard a man’s voice say, ‘It’s OK, I’m going to help you.’” D.M. said she then saw a “figure clad in black clothing and a mask that covered the person’s mouth and nose walking towards her,” the affidavit continued.
“D.M. described the figure as 5’ 10” or taller, male, not very muscular, but athletically built with bushy eyebrows,” the affidavit says. “The male walked past D.M. as she stood in a ‘frozen shock phase.’
“The male walked towards the back sliding glass door. D.M. locked herself in her room after seeing the male,” the document says, adding the roommate did not recognize the male.
Dr. Sanjay Gupta: 6 keys to keeping sharp in 2023
Editor’s Note: CNN Chief Medical Correspondent Dr. Sanjay Gupta is a practicing neurosurgeon and the author of the new book, “12 Weeks to a Sharper You: A Guided Program.”
CNN
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At least once a year, we read a sparkling headline about some promising new drug that might help patients with Alzheimer’s disease. And at least once a year, we also hear about failed drug trials and reversals of promises that a cure-all is in sight. I wrote a book about how to keep your brain sharp that came out two years ago. Since then, not much has changed in our understanding of how we can preserve our memories, and the lessons remain as relevant as ever. But one thing has become abundantly clearer: Preventing and even treating forms of dementia are largely driven by lifestyle and the choices we make daily. You are not necessarily doomed to whatever fate you think sits stuck in your genes. If there’s one fact that’s increasingly apparent in scientific circles, it’s that our lifestyle choices contribute mightily to our aging process and risk for disease, likely as much – or perhaps even more – than our genetics.
Indeed, your everyday experiences – including what you eat, how much you move, with whom you socialize, what challenges you face, what gives you a sense of purpose, how well you sleep, and what you do to reduce stress – factor much more into your brain health and overall wellness than you might imagine. We may never have a drug that everyone can take to avoid, let alone cure, dementia and other neurodegenerative diseases. But we all can access the same toolkit proven to help stack the deck in our favor for a sharp brain for life. The program I outline in my book, and which informed the interactive workbook I have coming out this week – “12 Weeks to a Sharper You: A Guided Program” – features all the practical tools you need to implement in your life today. They can help stave off brain decline, and also help you feel less anxious, sleep better, improve energy, think more clearly, make better decisions, become more resilient to daily stress, and even lose weight and boost immunity – all resolutions most of us aim to make at the transition to a new year filled with hope and high expectations. We all know that change is a challenge, and changing long-established habits takes effort. But it doesn’t have to be tortuous, and it is really not that hard to do. Let me give you six things that will help you in 2023 – your keys to the kingdom of mental sharpness.
Skip the crash diet and simply work on following the S.H.A.R.P. protocol: Slash the sugar and salt; Hydrate smartly; Add more omega-3 fatty acids from dietary sources; Reduce portions; and Plan ahead. The S.H.A.R.P. protocol is the easiest way to gravitate toward healthier foods in general and minimize the amount of processed, brain-busting junk. And if you need just one single thing to focus on here, start with the sugar. The average American consumes nearly 20 teaspoons of added sugar daily, most of that in the highly processed form of fructose, derived from high-fructose corn syrup. My guess is that a lot of this sugar intake comes in the form of a liquid – soda, energy drinks, juices and flavored teas. Swap sugar-laden drinks with water and you’ll take on two steps. That’s how to hydrate smartly.
Physical exertion is the only thing we’ve scientifically documented to improve brain health and function, and it may even slow memory loss. It’s the brain’s only superfood. And it needn’t be formal or require equipment. Walk more, take the stairs, and get up for light activity for two minutes every hour. According to the US Centers for Disease Control and Prevention, cognitive decline is almost twice as common among adults who are inactive compared to those are active. In 2022, a large international study that tracked the health of more than half a million people showed that the simple act of performing household chores like cooking, cleaning and washing the dishes can cut the risk of dementia by a stunning 21%. That put chores as the second biggest protective activity behind more obvious things such as riding a bike. In this same study, regular movement was shown to reduce risk of dementia by 35%, followed by meeting up with friends and family (a 15% lower risk). Again, simple things with huge payoffs.
On a scale of 1 to 10, with 10 being the most extreme, how would you rate your stress level? What if I told you that stress is now considered a trigger for silent neurodegeneration, which occurs years before symptoms develop? Scores of well-designed studies routinely show that chronic stress can impair your ability to learn and adapt to new situations, and subtly erode your cognition. More specifically, stress destroys cells in the hippocampus, the brain site responsible for memory storage and retrieval. So, by reducing stress, you not only help preserve cells vital to memory but you also improve focus, concentration and productivity. Don’t let toxic stress get in the way of keeping sharp. Take breaks during the day to engage in an activity that’s peaceful, meditative and stress-reducing. It can be as easy as walking in nature, journal writing, spending time with a pet, or even daydreaming. Download an app today that will give you a guided tour through a deep breathing exercise you can practice daily. I have a trusty meditative routine that calms me down in 90 seconds or less. I simply close my eyes, pay close attention to my breath, and picture my worries in clear bubbles directly in front of me that float weightlessly up and away.
Find what works for you and make it a part of your day – every day.
Are you getting restorative sleep? Contrary to popular belief, sleep is not a state of neural idleness. It is a critical phase during which the body replenishes itself in a variety of ways that ultimately affect every system, from the brain to the heart, the immune system, and all the inner workings of our metabolism. You can think of sleep as your brain’s rinse cycle for clearing out junk that could contribute to decline and disease. Prioritize sleep as you would anything else important. And start with your bedtime routine. Stop looking at screens a full hour before bed – your smartphone included – and prepare for a good night’s sleep. I bumped my pre-sleep prep time from 30 minutes to an hour and it has made all the difference in my energy and productivity the next day.
Are you learning something new every day that’s cognitively stimulating? Staying mentally challenged is vital, so much so that studies show that someone who retires at age 65 has about a 15% lower risk of developing dementia compared with someone retiring at 60, even after other factors are taken into account. Retire late, or never at all. Choose different routes to familiar destinations. Brush your teeth with the non-dominant hand. Skip the solitary games and crossword puzzles and pick up a new hobby that involves other people. Which brings me to the final key …
We are social creatures who need social connection to thrive, especially when it comes to brain health. Call a friend today. Invite a neighbor over for dinner. Go for a walk with a buddy and talk about your problems. Cherish those relationships. The strength of our connections with others can predict the health of both our bodies and our brains as we go through life. Good relationships protect us. They are a secret sauce to a long, sharp life.
As of 2022, scientists have documented a total of about 75 genes connected to the development of Alzheimer’s disease, but carrying these genes is not a one-way ticket to decline. How those genes express themselves and behave may depend largely on your daily habits. Remember that a disease like Alzheimer’s is multifactorial, made up of different pathological features. Which is why prevention and treatments are increasingly becoming personalized – individualized to a person’s biochemistry, from basic parameters like cholesterol levels, blood pressure and blood sugar balance, to the state of one’s oral health and gut microbiome, relics of past infections, and even how well you can see and hear. To that end, it helps to keep your numbers in check. Fon’t let your cholesterol or blood pressure, for instance, run amok. Same goes for your vision and hearing. In recent years, hearing and vision impairment have been added to the list of modifiable risk factors for cognitive decline.
Your DNA provides your body’s core language, but how that DNA behaves tells the story. In the future, interventional therapies that include a combination of lifestyle habits and drugs may help those stories end well. You’ll also track your risk for cognitive decline over time in the future using a simple app on your smartphone that can help you evaluate your physiology (and your memory) in real time and make suggestions tailored for you. Until we all have that technology at our fingertips, the six keys above afford you a great start and will give you a strong foundation.
The ultimate goal is to build what’s called cognitive reserve, which is what scientists call “brain resiliency.” With more cognitive reserve, you support cognitive function and can lower your risk of neurodegenerative issues. It’s like having a backup set of networks in your brain when one fails or, worse, dies and is no longer functional. In many aspects of life, the more backup plans we have, the more chances for success, right? Well, the same is true for our brain’s hard- and soft-wiring. And perhaps the most important key to establishing that reserve is to do so over time – years or even decades – before your risk for decline increases with advanced age.
Always remember this: Cognitive decline is not necessarily inevitable. Research suggests healthy habits you can incorporate into your daily life can help protect your brain health for the long term. Think of health as a “top-down” project. Focus on your brain and everything else will follow. Happy New Year!
Genome sequencing trial to test benefits of identifying genetic diseases at birth | Genetics
Genomics England is to test whether sequencing babies’ genomes at birth could help speed up the diagnosis of about 200 rare genetic diseases, and ensure faster access to treatment.
The study, which will sequence the genomes of 100,000 babies over the next two years, will explore the cost-effectiveness of the approach, as well as how willing new parents are to accept it.
Although researchers will only search babies’ genomes for genetic conditions that surface during early childhood, and for which an effective treatment already exists, their sequences will be held on file. This could open the door to further tests that could identify untreatable adult onset conditions, or other genetically determined traits, in the future.
“One challenging thing with newborn genomes is that they will potentially accompany people from cradle to grave,” said Sarah Norcross, director of the Progress Educational Trust (PET), an independent charity that improves choices for people affected by infertility and genetic conditions.
Ensuring the privacy of this data is therefore essential. “People must be able to trust that any data collected will only be used in the agreed way, and for the stated purpose,” Norcross said.
Each year, approximately 3,000 children are born in the UK with a treatable rare condition that could be detected using genome sequencing. Although newborn babies are currently offered a heel-prick test to screen their blood for signs of nine rare but serious conditions, such as sickle cell disease and cystic fibrosis, whole genome sequencing could enable hundreds more such conditions to be diagnosed at birth.
Currently, such diseases are usually only diagnosed once a child develops symptoms, often after months or years of tests. One such condition is biotinidase deficiency, an inherited disorder in which the body is unable to recycle the vitamin biotin. Affected children may experience seizures and delays in reaching developmental milestones, and have problems with vision or hearing, but early diagnosis and treatment with biotin supplements can prevent this deterioration and keep them healthy.
Dr Richard Scott, chief medical officer at Genomics England, said: “At the moment, the average time to diagnosis in a rare disease is about five years. This can be an extraordinary ordeal for families, and it also puts pressure on the health system. The question this programme is responding to is: ‘is there a way that we can get ahead of this?’”
The study aims to recruit 100,000 newborn children to undergo voluntary whole genome sequencing over the next two years, to assess the feasibility and effectiveness of the technology – including whether it could save the NHS money by preventing serious illness.
It will also explore how researchers might access an anonymised version of this database to study people as they grow older, and whether a person’s genome might be used throughout their lives to inform future healthcare decisions. For instance, if someone develops cancer when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them.
According to research commissioned by PET earlier this year, 57% of the UK public would support the storage of genetic data in a national database, provided it were only accessible to the sequenced individual and healthcare professionals involved in their care. Only 12% of people opposed this.
Of greater concern would be the storage of a person’s genetic data for use by government authorities including the police, with the person being identifiable to those authorities. This was supported by 40% of people, and opposed by 25%. Norcross said that while Genomics England has good safeguards in place for providing research access to genomic data, “this risk can never be eliminated completely”.
Scott stressed that the purpose of the trial was to explore whether the potential benefits of newborn sequencing stack up, and engage in a genuine national debate about whether the technology is something people feel comfortable with. “The bottom line here is about us taking a cautious approach, and developing a view jointly nationally about what the right approach is, and what the right safeguards are,” he said.
Others raised concerns about the potential for false or uncertain results. Frances Flinter, emeritus professor of clinical genetics at Guy’s & St Thomas NHS foundation trust, and a member of the Nuffield council on bioethics, said: “Using whole genome sequencing to screen newborn babies is a step into the unknown. Getting the balance of benefit and harm right will be crucial. The potential benefits are early diagnosis and treatment for more babies with genetic conditions. The potential harms are false or uncertain results, unnecessary anxiety for parents, and a lack of good follow-up care for babies with a positive screening result.
“We must not race to use this technology before both the science and ethics are ready. This research programme could provide new and important evidence on both. We just hope the question of whether we should be doing this at all is still open.”