Newly discovered ‘einstein’ shape can do something no other tile can do | CNN

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CNN
 — 

A geometry problem that has been puzzling scientists for 60 years has likely just been solved by an amateur mathematician with a newly discovered 13-sided shape.

Called “The hat” because it vaguely resembles a fedora, the elusive shape is an “einstein” (from the German “ein stein,” or “one stone”). That means it can completely cover a surface without ever creating a repeated pattern — something that had not yet been achieved with a single tile.

“I’m always looking for an interesting shape, and this one was more than that,” said David Smith, its creator and a retired printing technician from northern England, in a phone interview. Soon after discovering the shape in November 2022, he contacted a math professor and later, with two other academics, they released a self-published scientific paper about it.

“I’m not really into math, to be honest — I did it at school, but I didn’t excel in it,” Smith said. That’s why I got these other guys involved, because there’s no way I could have done this without them. I discovered the shape, which was a bit of luck, but it was also me being persistent.”

Most wallpapers or tiles in the real world are periodic, meaning you can identify a small cluster that’s just constantly repeated to cover the whole surface. “The hat,” however, is an aperiodic tile, meaning it can still completely cover a surface without any gaps, but you can never identify any cluster that periodically repeats itself to do so.

Fascinated by the idea that such aperiodic sets of shapes could exist, mathematicians first mulled the problem in the early 1960s, but they initially believed the shapes were impossible. That turned out to be wrong, because within years a set of 20,426 tiles that — when used together — could do the job was created. That number was soon reduced to just over 100, and then down to six.

In the 1970s, the work of British physicist and Nobel Prize winner Roger Penrose further reduced the number of shapes from six down to two in a system that has since been known as Penrose tiling. And that’s where things were stuck for decades.

Smith became interested in the problem in 2016, when he launched a blog on the subject. Six years later, in late 2022, he thought he had bested Penrose in finding the einstein, so he got in touch with Craig Kaplan, a professor in the School of Computer Science at the University of Waterloo in Canada.

“From my perspective, it started with an email out of blue,” Kaplan said in a phone interview. “David knew that I had recently published a paper describing a piece of software that could help him understand what was going on with the tile.”

With the help of the software, the two realized they were onto something.

There’s nothing inherently magical about “The hat,” according to Kaplan.

“It’s really a very simple polygon to describe. It doesn’t have weird, irrational angles, it’s basically just something you get by cutting up hexagons.” For that reason, he adds, it might have been “discovered” in the past by other mathematicians creating similar shapes, but they just did not think about checking its tiling properties.

The finding has created quite a stir since its release in late March. As Kaplan points out, it has inspired artistic renditions, knitted quilts, cookie cutters, TikTok explainers and even a joke in one of Jimmy Kimmel’s opening monologues.

“I think it might open a few doors,” Smith said, “I’ve got a feeling we’ll have a different way of looking at how to find these sorts of anomalies, if you like.”

The shape is publicly available, even for 3D printing, and it’s not going to be copyrighted.

“We’re not trying to protect it in any way,” Kaplan said. “It belongs to everyone, and I hope people will use this in all kinds of decorative, architectural and artistic content.”

What about bathroom tiling? “I can only hope we’ll see lots of bathrooms decorated with it, but it’s going to be a little bit tricky,” he added. “One of the reasons we use periodic tilings in places like bathrooms is because the rule for how to lay them is pretty simple. With this, you have a different challenge — you could potentially start laying it down out and hack yourself into a corner where you’ve created a space that you can’t fill with more hats.”

Far from being content with having rewritten math history, Smith has already discovered a “sequel” to “The hat.” Called “The turtle,” the new shape is also an einstein, but it’s made of 10 kites, or sections, rather than eight, and therefore bigger than “The hat.”

“It’s a bit of an addiction,” Smith confessed about his constant quest for new shapes.

The scientific paper on “The hat,” coauthored with Joseph Myers, a software developer, and Chaim Goodman-Strauss, a mathematician at the University of Arkansas, has not yet gone through peer review — the process of verification by other scientists that is standard in scientific publications — but will do so over the next few months.

“I really look forward to seeing what comes out of that process,” Kaplan said, acknowledging that it could mean that the findings could be disputed. “I believe strongly in the importance of peer review as a way of conducting science. So, until that happens, I would agree that there should be reason to not be certain yet. But based on the evidence that we accumulated, it’s hard to imagine a way that we could be wrong.”

The discovery, once confirmed, could be significant across other fields of research, according to Rafe Mazzeo, a professor in the department of mathematics at Stanford University, who was not involved in the study.

“Tilings have many applications in physics, chemistry and beyond, for example in the study of crystals,” he said in an email. “The discovery of aperiodic tilings, now many years ago, created a stir, since their existence was so unexpected.

“This new discovery is a strikingly simple example. There are no standard techniques known for finding new aperiodic tiles, so this involved a really new idea. That is always exciting,” he added.

Mazzeo said it’s also nice to hear of a mathematical discovery that is so easy to visualize and explain: “This illustrates that mathematics is still a growing subject, with many problems that have not yet been solved.”



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A new approach to a Covid-19 nasal vaccine shows early promise | CNN



CNN
 — 

Scientists in Germany say they’ve been able to make a nasal vaccine that can shut down a Covid-19 infection in the nose and throat, where the virus gets its first foothold in the body.

In experiments in hamsters, two doses of the vaccine – which is made with a live but weakened form of the coronavirus that causes Covid-19 – blocked the virus from copying itself in the animals’ upper airways, achieving “sterilizing immunity” and preventing illness, a long-sought goal of the pandemic.

Although this vaccine has several more hurdles to clear before it gets to a doctor’s office or drug store, other nasal vaccines are in use or are nearing the finish line in clinical trials.

China and India both rolled out vaccines given through the nasal tissues last fall, though it’s not clear how well they may be working. Studies on the effectiveness of these vaccines have yet to be published, leaving much of the world to wonder whether this approach to protection really works in people.

The US has reached something of a stalemate with Covid-19. Even with the darkest days of the pandemic behind us, hundreds of Americans are still dying daily as the infection continues to simmer in the background of our return to normal life.

As long as the virus continues to spread among people and animals, there’s always the potential for it mutate into a more contagious or more damaging version of itself. And while Covid infections have become manageable for most healthy people, they may still pose a danger to vulnerable groups such as the elderly and immunocompromised.

Researchers hope next-generation Covid-19 vaccines, which aim to shut down the virus before it ever gets a chance to make us sick and ultimately prevent the spread of infection, could make our newest resident respiratory infection less of a threat.

One way scientists are trying to do that is by boosting mucosal immunity, beefing up immune defenses in the tissues that line the upper airways, right where the virus would land and begin to infect our cells.

It’s a bit like stationing firefighters underneath the smoke alarm in your house, says study author Emanuel Wyler, a scientist at the Max Delbruck Center for Molecular Medicine in the Helmholtz Association in Berlin.

The immunity that’s created by shots works throughout the body, but it resides primarily in the blood. That means it may take longer to mount a response.

“If they are already on site, they can immediately eliminate the fire, but if they’re like 2 miles away, they first need to drive there, and by that time, one-third of the house is already in full flames,” Wyler said.

Mucosal vaccines are also better at priming a different kind of first responder than injections do. They do a better job of summoning IgA antibodies, which have four arms to grab onto invaders instead of the two arms that the y-shaped IgG antibodies have. Some scientists think IgA antibodies may be less picky about their targets than IgG antibodies, which makes them better equipped to deal with new variants.

The new nasal vaccine takes a new approach to a very old idea: weakening a virus so it’s no longer a threat and then giving it to people so their immune systems can learn to recognize and fight it off. The first vaccines using this approach date to the 1870s, against anthrax and rabies. Back then, scientists weakened the agents they were using with heat and chemicals.

The researchers manipulated the genetic material in the virus to make it harder for cells to translate. This technique, called codon pair deoptimization, hobbles the virus so it can be shown to the immune system without making the body sick.

“You could imagine reading a text … and every letter is a different font, or every letter is a different size, then the text is much harder to read. And this is basically what we do in codon pair deoptimization,” Wyler said.

In the hamster studies, which were published Monday in the journal Nature Microbiology, two doses of the live but weakened nasal vaccine created a much stronger immune response than either two doses of an mRNA-based vaccine or one that uses an adenovirus to ferry the vaccine instructions into cells.

The researchers think the live weakened vaccine probably worked better because it closely mimics the process of a natural infection.

The nasal vaccine also previews the entire coronavirus for the body, not just its spike proteins like current Covid-19 vaccines do, so the hamsters were able to make immune weapons against a wider range of targets.

As promising as all this sounds, vaccine experts say caution is warranted. This vaccine still has to pass more tests before it’s ready for use, but they say the results look encouraging.

“They did a very nice job. This is obviously a competent and thoughtful team that did this work, and impressive in the scope of what they did. Now it just needs to be repeated,” perhaps in primates and certainly in humans before it can be widely used, said Dr. Greg Poland, who designs vaccines at the Mayo Clinic. He was not involved in the new research.

The study began in 2021, before the Omicron variant was around, so the vaccine tested in these experiments was made with the original strain of the coronavirus. In the experiments, when they infected animals with Omicron, the live but weakened nasal vaccine still performed better than the others, but its ability to neutralize the virus was diminished. Researchers think it will need an update.

It also needs to be tested in humans, and Wyler says they’re working on that. The scientists have partnered with a Swiss company called RocketVax to start phase I clinical trials.

Other vaccines are further along, but the progress has been “slow and halting,” Poland said. Groups working on these vaccines are struggling to raise the steep costs of getting a new vaccine to market, and they’re doing it in a setting where people tend to think the vaccine race has been won and done.

In reality, Poland said, we’re far from that. All it would take is another Omicron-level shift in the evolution of the virus, and we could be back at square one, with no effective tools against the coronavirus.

“That’s foolish. We should be developing a pan-coronavirus vaccine that does induce mucosal immunity and that is long-lived,” he said.

At least four nasal vaccines for Covid-19 have reached late-stage testing in people, according to the World Health Organization’s vaccine tracker.

The nasal vaccines in use in China and India rely on harmless adenoviruses to ferry their instructions into cells, although effectiveness data for these has not been published.

Two other nasal vaccines are finishing human studies.

One, a recombinant vaccine that can be produced cheaply in chicken eggs, the same way many flu vaccines are, is being put through its paces by researchers at Mount Sinai in New York City.

Another, like the German vaccine, uses a live but weakened version of the virus. It’s being developed by a company called Codagenix. Results of those studies, which were carried out in South America and Africa, may come later this year.

The German team says it’s eagerly watching for the Codagenix data.

“They will be very important in order to know where whether this kind of attempt is basically promising or not,” Wyler said.

They have reason to worry. Respiratory infections have proved to be tough targets for inhaled vaccines.

FluMist, a live but weakened form of the flu virus, works reasonably well in children but doesn’t help adults as much. The reason is thought to be that adults already have immune memory for the flu, and when the virus is injected into the nose, the vaccine mostly boosts what’s already there.

Still, some of the most potent vaccines such as the vaccine against measles, mumps and rubella use live attenuated viruses, so it’s a promising approach.

Another consideration is that live vaccines can’t be taken by everyone. People with very compromised immunity are often cautioned against using live vaccines because even these very weakened viruses may be risky for them.

“Although it’s strongly attenuated, it’s still a real virus,” Wyler said, so it would have to be used carefully.

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Colorectal cancer is rising among younger adults and scientists are racing to uncover why | CNN



CNN
 — 

Nikki Lawson received the shock of her life at age 35.

A couple of years ago, she noticed that her stomach often felt irritable, and she would get sudden urges to use the restroom, sometimes with blood in her stool. She even went to the hospital one day when her symptoms were severe, she said, and she was told it might be a stomach ulcer before being sent home.

“That was around the time when Chadwick Boseman, the actor, passed away. I remember watching him on the news and having the same symptoms,” Lawson said of the “Black Panther” star who died of colon cancer at age 43 in August 2020.

“But at that time, I was not thinking ‘this is something that I’m going through,’ ” she said.

Instead, Lawson thought changing her diet would help. She stopped eating certain red meats and ate more fruits and vegetables. She began losing a lot of weight, which she thought was the result of her new diet.

“But then I went for a physical,” Lawson said.

Her primary care physician recommended that she see a gastroenterologist immediately because she had low iron levels.

“When I went and I saw my gastro, she said, ‘I’m sorry, I have bad news. We see something. We sent it off to get testing. It looks like it is cancer.’ My whole world just kind of blanked out,” Lawson said. “I was 35, healthy, going about my day, raising my daughter, and to get a diagnosis like this, I was just so shocked.”

Lawson, who was diagnosed with stage III rectal cancer, is among a growing group of colon and rectal cancer patients in the United States who are diagnosed at a young age.

The share of colorectal cancer diagnoses among adults younger than 55 in the US has been rising since the 1990s, and no one knows why.

Researchers at Dana-Farber Cancer Institute are calling for more work to be done to understand, prevent and treat colorectal cancer at younger ages.

In a paper published last week in the journal Science, the researchers, Dr. Marios Giannakis and Dr. Kimmie Ng, outlined a way for scientists to accelerate their investigations into the puzzling rise of colorectal cancer among younger ages, calling for more specialized research centers to focus on younger patients with the disease and for diverse populations to be included in studies on early-onset colorectal cancer.

Their hope is that this work will help improve outcomes for young colorectal cancer patients like Lawson.

Among younger adults, ages 20 to 49, colorectal cancer is estimated to become the leading cause of cancer-related deaths in the United States by 2030.

Lawson, now 36 and living in Palm Bay, Florida, with her 5-year-old daughter, is in remission and cancer-free.

The former middle school teacher had several surgeries and received radiation therapy and chemotherapy to treat her cancer. She is now being monitored closely by her doctors.

For other young people with colorectal cancer, “my words of hope would be to just stay strong. Just find that courage within yourself to say, ‘You know what, I’m going to fight this.’ And I just looked within myself,” Lawson said.

“I also have a very supportive family system, so they were definitely there for me. But it was very emotional,” she said of her cancer treatments.

“I remember crying through chemotherapy sessions and the medicine making you so weak, and my daughter was 4, and having to be strong for her,” she said. “My advice to any young person: If you see symptoms or you see something’s not right and you’re losing a lot of weight and not really trying to, go to see a doctor.”

Signs and symptoms of colorectal cancer include changes in bowel habits, rectal bleeding or blood in the stool, cramping or abdominal pain, weakness and fatigue, and weight loss.

A report released this month by the American Cancer Society shows that the proportion of colorectal cancer cases among adults younger than 55 increased from 11% in 1995 to 20% in 2019. Yet the factors driving that rise remain a mystery.

There’s probably more than just one cause, said Lawson’s surgeon, Dr. Steven Lee-Kong, chief of colorectal surgery at Hackensack University Medical Center in New Jersey.

He has noticed an increase in colorectal cancer patients in their 40s and 30s within his own practice. His youngest patient was 21 when she was diagnosed with rectal cancer.

“There is a phenomenon of decreasing overall colorectal cancer rates in the population in general, we think because of the increase in screening for particularly for older adults,” Lee-Kong said. “But that doesn’t really account for the overall increase in the number of patients younger than, say, 50 and 45 that are developing cancer.”

Some of the factors known to raise anyone’s risk of colorectal cancer are having a family history of the disease, having a certain genetic mutation, drinking too much alcohol, smoking cigarettes or being obese.

“They were established as risk factors in older cohorts of patients, but they do seem to be also associated with early-onset disease, and those are things like excess body weight, lack of physical activity, high consumption of processed meat and red meat, very high alcohol consumption,” said Rebecca Siegel, a cancer epidemiologist and senior scientific director of surveillance research at the American Cancer Society, who was lead author of this month’s report.

“But the data don’t support these specific factors as solely driving the trend,” she said. “So if you have excess body weight, you are at a higher risk of colorectal cancer in your 40s than someone who is average weight. That is true. But the excess risk is pretty small. So again, that is probably not what’s driving this increase, and it’s another reason to think that there’s something else going on.”

Many people who are being diagnosed at a younger age were not obese, including some high-profile cases, such as Broadway actor Quentin Oliver Lee, who died last year at 34 after being diagnosed with stage IV colon cancer.

“Anecdotally, in conferences that I’ve attended, that is the word on the street: that most of these patients are very healthy. They’re not obese; they’re very active,” Siegel said, which adds to the mystery.

“We know that excess weight increases your risk, and we know that we’ve had a big increase in body weight in this country,” she said. “And that is contributing to more cancer for a lot of cancers and also for colorectal cancer. But does it explain this trend that we’re seeing, this steep increase? No, it doesn’t.”

Yet scientists remain divided when it comes to just how much of a role those known risk factors – especially obesity – play in the rise of colorectal cancer among adults younger than 55.

Even though the cause of the rise of colorectal cancer in younger adults is “still not very well understood,” Dr. Subhankar Chakraborty argues that dietary and lifestyle factors could be playing larger roles than some would think.

“We know that smoking, alcohol, lack of physical activity, being overweight or obese, increased consumption of red meat – so basically, dietary factors and environmental and lifestyle factors – are likely playing a big role,” said Chakraborty, a gastroenterologist with The Ohio State University Comprehensive Cancer Center.

“There are also some other factors, such as the growing incidence of inflammatory bowel disease, that may also be playing a role, and I think the biggest factors is most likely the diet, the lifestyle and the environmental factors,” he said.

It has been difficult to pinpoint causes of the rise of cases in younger ages because, if someone has a polyp in their colon for example, it can take 10 to 15 years to develop into cancer, he says.

“During that, all the way from a polyp to the cancer stage, the person is exposed to a variety of things in their life. And to really pinpoint what is going on, we would need to follow specific individuals over time to really understand their dietary patterns, medications and weight changes,” Chakraborty said. “So that makes it really hard, because of the time that cancer actually takes to develop.”

Some researchers have been investigating ways in which the rise in colorectal cancer among younger adults may be connected to increases in childhood obesity in the US.

“The rise in young-onset colorectal cancer correlates with a doubling of the prevalence of childhood obesity over the last 30 years, now affecting 20% of those under age 20,” Dr. William Karnes, a gastroenterologist and director of high-risk colorectal cancer services at the UCI Health Digestive Health Institute in California, said in an email.

“However, other factors may exist,” he said, adding that he has noticed “an increasing frequency of being shocked” by discoveries of colorectal cancer in his younger patients.

There could be correlations between obesity in younger adults, the foods they eat and the increase in colorectal cancers for the young adult population, said Dr. Shane Dormady, a medical oncologist from El Camino Health in California who treats colorectal cancer patients.

“I think younger people are on average consuming less healthy food – fast food, processed snacks, processed sugars – and I think that those foods also contain higher concentrations of carcinogens and mutagens, in addition to the fact that they are very fattening,” Dormady said.

“It’s well-publicized that child, adolescent, young adult obesity is rampant, if not epidemic, in our country,” he said. “And whenever a person is at an unhealthy weight, especially at a young age, which is when the cells are most susceptible to DNA damage, it really starts the ball rolling in the wrong direction.”

Yet at the Center for Young Onset Colorectal and Gastrointestinal Cancers at Memorial Sloan Kettering Cancer Center, researchers and physicians are not seeing a definite correlation between the rise in colorectal cancer among their younger adult patients and a rise in obesity, according to Dr. Robin Mendelsohn, gastroenterologist and co-director of the center, where scientists and doctors continue to work around the clock to solve this mystery.

“When we looked at our patients, the majority were more likely to be overweight and obese, but when we compare them to a national cohort without cancer, they’re actually less likely to be overweight and obese,” she said. “And anecdotally, a lot of the patients that we see are young and fit and don’t really fit the obesity profile.”

That leaves many oncologists scratching their heads.

Some scientists are also exploring whether genetic mutations that can raise someone’s risk for colorectal cancer have played a role in the rise of cases among younger adults – but the majority of these patients do not have them.

Karnes, of UCI Health, said “it is unlikely” that there has been an increase in the genetic mutations that raise the risk of colorectal cancer, “although, as expected, the percentage of colorectal cancers caused by such mutations, e.g., Lynch syndrome, is more common in people with young-onset colorectal cancer.”

Lynch syndrome is the most common cause of hereditary colorectal cancer, causing about 4,200 cases in the US per year. People with Lynch syndrome are more likely to get cancers at a younger age, before 50.

“In my practice and in the medical community, the oncologic community, I don’t think there’s any proof that genetic syndromes and gene mutations that patients are born with are becoming more frequent,” El Camino Health’s Dormady said. “I don’t think the inherent frequency of those mutations is going up.”

The tumors of younger colorectal cancer patients are very similar to those of older ones, said Mendelsohn at Memorial Sloan Kettering Cancer Center.

“So then, the question is, if they’re biologically the same, why are we seeing this increasingly in younger people?” she said. “About 20% may have a genetic mutation, so the majority of patients do not have a family history or genetic predisposition.”

Therefore, Mendelsohn added, “it’s likely some kind of exposure, whether it be diet, medication, changing microbiome,” that is driving the rise in colorectal cancers in younger adults.

That rise “has been something that’s been on our radar, and it has been increasing since the 1990s,” Mendelsohn said. “And even though it is increasing, the numbers are still small. So it’s still a small population.”

Dormady, at El Camino Health, said he now sees more colorectal cancer patients in their early to mid-50s than he did 20 years ago, and he wonders whether it might be a result of colorectal cancer screening being easier to access and better at detecting cancers.

“The first thing to consider is that some of our diagnostic modalities are becoming better,” he said, especially because there are now many at-home colorectal cancer testing kits. Also, in 2021, the US Preventive Services Task Force lowered the recommended age to start screening for colon and rectal cancers from 50 to 45.

“I think you have a subset of patients who are being screened earlier with colonoscopies; you have advancing technology where we can potentially detect tumor cell DNA in the stool sample, which is leading to earlier diagnosis. And sometimes that effect will skew statistics and make it look like the incidence is really on the rise, but deeper analysis shows you that part of that is due to earlier detection and more screening,” he said. “So that could be one facet of the equation.”

Overall, pinpointing what could be driving this surge in colorectal cancer diagnoses among younger ages will not only help scientists better understand cancer as a disease, it will help doctors develop personalized risk assessments for their younger patients, Ohio State University’s Chakraborty said.

“Because most of the people who go on to develop colorectal cancer really have no family history – no known family history of colon cancer – so they would really not be aware of their risk until they begin to develop symptoms,” he said.

“Having a personalized risk assessment tool that will take into account their lifestyle, their environmental factors, genetic factors – I think if we have that, then it would allow us hopefully, in the future, to provide some personalized recommendations on when a person should be screened for colorectal cancer and what should be the modality of screening based on their risk,” he said. “Younger adults tend to develop colon cancer mostly in the left side, whereas, as we get older, colon cancer tends to develop more on the right side. So there’s a little difference in how we could screen younger adults versus older adults.”

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100,000 newborn babies will have their genomes sequenced in the UK. It could have big implications for child medicine | CNN



CNN
 — 

The UK is set to begin sequencing the genomes of 100,000 newborn babies later this year. It will be the largest study of its kind, mapping the babies’ complete set of genetic instructions, with potentially profound implications for child medicine.

The £105 million ($126 million) Newborn Genomes Programme will screen for around 200 rare but treatable genetic conditions, with the aim of curtailing untold pain and anxiety for babies and their families, who sometimes struggle to receive a diagnosis through conventional testing. By accelerating the diagnostic process, earlier treatment of infants could prevent many severe conditions from ever developing.

The study would see roughly one in 12 newborn babies in England screened on a voluntary basis over two years. It will operate as an extension of current newborn testing, with the findings intended to inform policymakers, who could pave the way for sequencing to become more commonplace.

Nevertheless, the project has raised many longstanding ethical questions around genetics, consent, data privacy, and priorities within infant healthcare.

In the UK, like many other countries, newborn babies are screened for a number of treatable conditions through a small blood spot sample. Also known as the heel prick test, this method has been routine for over 50 years, and today covers nine conditions including sickle cell disease, cystic fibrosis and inherited metabolic diseases.

“The heel prick is long overdue to be obsolete,” argues Eric Topol, an American cardiologist and professor of molecular medicine at The Scripps Research Institute, who is not connected with the UK sequencing initiative. “It’s very limited and it takes weeks to get the answer. Sometimes, babies that have serious metabolic abnormalities, they’re already being harmed.”

Some conditions that are tested for have variations that may not register a positive result. The consequences can be life-altering.

One example is congenital hyperthyroidism, which impacts neurological development and growth and affects “one in 1,500 to 2,000 babies in the UK,” explains Krishna Chatterjee, professor of endocrinology at the University of Cambridge. It is the result of an absent or under-developed thyroid gland and can be treated with the hormone thyroxine, a cheap and routine medicine. But if treatment doesn’t begin “within the first six months of life, some of those deleterious neurodevelopmental consequences cannot be prevented or reversed.”

The Newborn Genomes Programme will test for one or more forms of congenital hypothyroidism that are not picked up by the heel prick test. “At a stroke, you can make a diagnosis, and that can be game changing – or life changing – for that child,” Chatterjee says.

The program is led by Genomics England, part of the UK Department of Health and Social Care. Along with its partners, it has carried out a variety of preparatory studies, including a large-scale public consultation. A feasibility study is currently underway to assess whether a heel prick, cheek swab or umbilical cord blood will be used for sampling, with the quality of the DNA sample determining the final choice.

Genomics England says that each of the 200 conditions that will be screened for has been selected because there is evidence it is caused by genetic variants; it has a debilitating effect; early or pre-symptomatic treatment has a life-improving impact; and treatment is available for all through the UK’s National Health Service (NHS).

Richard Scott, chief medical officer and deputy CEO at Genomics England, says the program aims to return screening results to families in two weeks, and estimates at least one in 200 babies will receive a diagnosis.

Contracts for sequencing are still to be confirmed, although one contender is American biotech company Illumina. Chief scientist David Bentley says the company has reduced the price of its sequencing 1,000-fold compared to its first genome 15 years ago, and can now sequence the whole human genome for $200.

Bentley argues that early diagnosis via genome sequencing is cost effective in the long term: “People get sick, they get tested using one test after another, and that cost mounts up. (Sequencing) the genome is much cheaper than a diagnostic odyssey.”

Illumina equipment in a sequencing laboratory. The cost of sequencing the human genome has fallen significantly in the last 15 years, says the company.

But while some barriers to genetic screening have fallen, many societal factors are still in play.

Feedback from a public consultation ahead of the UK project’s launch was generally positive, although some participants voiced concerns that religious views could affect uptake, and a few expressed skepticism and mistrust about current scientific developments in healthcare, according to a report on its findings.

Frances Flinter, emeritus professor of clinical genetics and Guy’s and St Thomas’ NHS Foundation Trust and a member of the Nuffield Council on Bioethics, described the program as a “step into the unknown” in a statement to Science Media Centre in December 2022, reacting to the launch of the program.

“We must not race to use this technology before both the science and ethics are ready,” she said at the time. “This research program 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.”

Genome sequencing has raised many philosophical and ethical questions. If you could have aspects of your medical future laid ahead of you, would you want that? What if you were predisposed to an incurable disease? Could that knowledge alone impact your quality of life?

“People don’t generally understand deterministic or fatalistic-type results versus probabilistic, so it does require real teaching of participants,” says Topol. In other words, just because someone has a genetic predisposition to a certain condition, it doesn’t guarantee that they will develop the disease.

Nevertheless, sequencing newborn babies has made some of those questions more acute.

“One of the tenets of genomics and genomics testing is the importance of maintaining people’s autonomy to make their own decisions,” says Scott, highlighting the optional nature of the program.

“We’ve been quite cautious,” he stresses. “All of the conditions that we’re looking for are ones where we think we can make a really substantial impact on those children’s lives.”

Parents-to-be will be invited to participate in the program at their 20-week scan, and confirm their decision after the child’s birth.

“These will be parents, most of whom won’t have any history of a genetic condition, or any reason to worry about one. So it will be an additional challenge for them to appreciate what the value might be for their family,” says Amanda Pichini, clinical lead for genetic counseling at Genomics England.

Part of Pichini’s remit is to ensure equal access to the program and to produce representative data. While diversity comes in many forms, she says – including economic background and rural versus urban location – enlisting ethnically diverse participants is one objective.

“(There) has been a lack of data from other ethnic groups around the world, compared to Caucasians,” says Bentley. “As a result, the diagnostic rates for people from those backgrounds is lower. There are more variants from those backgrounds that we don’t know anything about – we can’t interpret them.”

If genomics is to serve humanity equally, genome data needs to reflect all of it. Data diversity “isn’t an issue that any one country can solve,” says Pichini.

Other countries are also pursuing sequencing programs and reference genomes – a set of genes assembled by scientists to represent a population, for the purpose of comparison. Australia is investing over $500 million AUS (around $333 million) into its genome program; the “All of Us” program is engaged in a five-year mission to sequence 1 million genomes in the US; and in the Middle East, the United Arab Emirates is seeking its own reference genome to investigate genetic diseases disproportionately affecting people in the region, where Illumina’s recently opened Dubai office will add local sequencing capacity.

Richard Scott of Genomics England says he hopes findings from the UK will be useful to other countries’ health systems, especially those not in “a strong position to develop the evidence and to support their decisions as well.”

Sequenced genomes will enter a secure databank using the same model as the National Genomic Research Library, in which they are deidentified and assigned a reference number.

Researchers from the NHS, universities and pharmaceutical companies can apply for access to the National Genomic Research Library (in some cases for a fee), with applications approved by an independent committee that includes participants who have provided samples. There are plenty of restrictions: data cannot be accessed for insurance or marketing purposes, for example.

“We think it’s really important to be transparent about that,” says Pichini. “Often, drugs and diagnostics and therapeutics can’t be developed in the NHS on (its) own. We need to have those partnerships.”

When each child turns 16, they will make their own decision on whether their genomic data should remain in the system. It hasn’t yet been decided if participants can request further investigation of their genome – beyond the scope of newborn screening – at a later date, says Scott.

After the two-year sampling window closes, a cost-benefit analysis of the program will begin, developing evidence for the UK National Screening Committee which advises the government and NHS on screening policies. It’s a process that could take some time.

Chatterjee suggests an entire lifetime might be needed to measure the economic savings that would come from early diagnosis of certain diseases, citing the costs of special needs schooling for children and support for adults living with certain rare genetic conditions: “How does that balance against the technical cost of making a diagnosis and then treatment?”

“I’m quite certain that this cost-benefit equation will balance,” Chatterjee adds.

Multiple interviewees for this article viewed genome sequencing as an extension of current testing, though stopped short of suggesting it could become standard practice for all newborn babies. Even Topol, a staunch advocate for genomics, does not believe it will become universal. “I don’t think you can mandate something like this,” he says. “We’re going to have an anti-genomic community, let’s face it.”

Members of the medical community have expressed a variety of concerns about the program’s approach and scope.

In comments released last December, Angus Clarke, clinical professor at the Institute of Cancer and Genetics at Cardiff University, queried if the program’s whole genome sequencing was driven by a wish to collect more genomic data, rather than improve newborn screening. Louise Fish, chief executive of the Genetic Alliance UK charity, questioned whether following other European nations that are expanding the number of conditions tested through existing bloodspot screening may have “just as great an ability to improve the lives of babies and their families.”

If genome sequencing becomes the norm, it remains to be seen how it will dovetail with precision medicine in the form of gene therapy, including gene editing. While the cost of sequencing a genome has plummeted, some gene therapies can cost millions of dollars per patient.

But for hundreds of babies not yet born in England, diagnosis of rare conditions that have routine treatments will be facilitated by the Newborn Genomes Programme.

“So much of medicine today is given in later life, and saves people for a few months or years,” says Bentley. “It’s so good to see more opportunity here to make a difference through screening and prevention during the early stages of life.

“It is investing maximally in the long-term future as a society, by screening all young people and increasing their chances of survival through genetics so they can realize their enormous potential.”

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Sleep like a pro with these 6 expert tips | CNN

Editor’s Note: Dana Santas, known as the “Mobility Maker,” is a certified strength and conditioning specialist and mind-body coach in professional sports, and is the author of the book “Practical Solutions for Back Pain Relief.”



CNN
 — 

How you sleep each night plays a vital role in how you perform in your daily life. So, it’s no wonder that professional sports teams tap the expertise of sleep doctors to ensure their elite athletes get the quality sleep they need to perform at the highest levels.

As a mobility coach who works in Major League Baseball, I can attest that during spring training, when every day starts early, players and coaches alike dread losing an hour of sleep when we “spring forward” for Daylight Saving Time.

It’s not just professional baseball players who struggle. A 2022 study found that more than 30% of adults have reported an hour of sleep debt — when you sleep less than your body needs — while nearly 1 in 10 adults had a sleep debt of two hours or more.

Adults need at least seven hours of solid sleep at night, according to the US Centers of Disease Control and Prevention. Sleep debt and irregular sleep duration are linked to an increased risk of heart disease, dementia, obesity and mood disorders such as depression and anxiety.

I asked two of my favorite MLB sleep experts to share some of the same tips they provide to professional baseball players, so that anyone can learn to sleep like a pro.

It’s important to get the recommended seven-plus hours of sleep nightly.

Sticking with a regularly scheduled bedtime and wake time helps, according to Dr. Cheri D. Mah, a sleep physician specializing in the sleep and performance of elite athletes. “Our bodies like regularity and will anticipate sleep with a regular sleep schedule,” Mah said. “As a reminder, set a daily alarm on your phone to go off 30 minutes before you want to start your wind-down routine.”

Pay attention to what your body and brain are telling you about your sleep schedule, suggested Dr. Chris Winter, a neurologist and host of the “Sleep Unplugged” podcast. “If you go to bed at 9 p.m. but it always takes you two hours to fall asleep, why not try going to bed later?”

If you want to sleep better, you need an environment conducive to sleep. “Make your room like a cave,” Mah said, “You want it to be really dark, quiet and cool — as well as comfortable.”

She recommends getting comfortable bedding, using blackout curtains or eye masks, wearing earplugs and setting the room temperature at 60 to 67 degrees Fahrenheit (about 16 to 19 degrees Celsius).

Do you judge how well you slept based on how fast you fell asleep?

The amount of time it takes you to fall asleep, called the speed of sleep latency, is an inaccurate gauge for sleep quality, according to Winter. How long it takes to fall asleep varies from person to person. The consensus of most sleep experts, including Winter, is that the average sleep latency is five to 20 minutes.

“Someone who is asleep ‘before their head hits the pillow’ is not a champion sleeper any more than an individual who can eat their entire dinner in three minutes is a highly nutritious eater,” Winter said. “That can often be a red flag and not a sign of great sleep.”

Many people jump right into bed with a racing mind, Mah said, which results in difficulty sleeping. She suggests that her clients create a 20- to 30-minute wind-down routine to help them transition to sleep. Activities could include gentle yoga, breathing exercises and reading, “just not on a tablet or phone that emits sleep-disturbing blue light frequencies,” she said.

Doing activities such as gentle yoga shortly before bedtime can help to ease a racing mind.

Both Mah and Winter report that getting people to refrain from technology use the hour before bedtime presents the biggest challenge for their clients. “It’s hard to convince people to change a behavior that doesn’t cause immediate pain,” Winter added.

Despite the popularity of “night cap” cocktails, Mah and Winter agree that alcohol is an impediment to sleep. They suggest that it be avoided entirely or at least not enjoyed in the hours before bed. They also recommend limiting caffeine intake later in the day. “Caffeine has a half-life of about six hours, so it’s best to cut it out in the late afternoon and early evening,” Mah added.

Along with all the other health benefits of regular exercise, research shows a strong link with better quality sleep, which Winter frequently points out to his clients. “If you are complaining about your sleep and not exercising, you better have a good reason for not doing it,” he said. “From a research perspective, it is far more effective at deepening sleep and improving its quality than any fad tech gadget in existence today … and it’s free!”

There is one caveat: Because some research has shown that the benefits of exercise are mitigated and can even hurt sleep quality when performed later at night, avoid vigorous exercise at least one hour before bed.

Sleep debt is the difference between your needed amount of sleep and the sleep you actually get, accumulating over time, if not paid back.

Many clients come to Mah without any knowledge of the concept of sleep debt and the need to repay it. More so, she said they are surprised to find that “it often takes longer than one night or one weekend to significantly pay back accumulated sleep debt.”

If you’ve built up sleep debt, try going to sleep an hour earlier or sleeping an hour later over a few days — or however long it takes for you to feel adequately rested.

Catching up on sleep can increase your daily alertness and help ward off inflammation.

Catching up on your sleep isn’t just good for increasing daily alertness — a 2020 study found that adults who caught up on sleep were less likely to show elevated inflammation levels, which contribute to chronic disease.

At the same time, it’s important not to stress about sleep, Winter said. Too much emphasis on things such as “falling asleep faster” or the notion that people “can’t sleep,” creates a sense of fear that he deems “highly problematic.”

“It’s physiologically impossible to not sleep at all, so nature has you covered,” he said. “Control the variables you can control, like schedule, environment, etc., and put it out of your mind.”

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How human gene editing is moving on after the CRISPR baby scandal | CNN

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London
CNN
 — 

For most of her life, Victoria Gray, a 37-year-old mother of four from Mississippi, had experienced excruciating bouts of pain.

Born with the blood disorder sickle cell disease, lengthy hospital stays and debilitating fatigue disrupted her childhood, forcing her to quit pursuing a college nursing degree and take potent and addictive painkillers.

“The pain I would feel in my body was like being struck by lightning and hit by a freight train all at once,” she said this week at the Third International Summit on Human Genome Editing in London.

In 2019, she received an experimental treatment for the inherited disease that used the gene-editing technique CRISPR-Cas9, which allowed doctors to make very precise changes to her DNA. While the procedure itself was grueling and took seven to eight months to fully recover from, she said it has transformed her life.

“The feeling is amazing. I really feel that I’m cured now,” Gray said. “Because I no longer have to face the battles that I faced on a day-to-day (basis). I came from having to have an in-home caregiver to help me take baths, clean my house and care for my children. Now I do all those things on my own.”

She’s now able to enjoy a life she once felt was passing her by. She holds down a full-time job as a Walmart cashier, and she’s able to attend her children’s football games and cheerleading events and enjoy family outings. “The life I felt I was just existing in I’m now thriving in,” she said.

Gray shared her experience with doctors, scientists, patient advocates and bioethicists who gathered in London for the human genome editing summit, at which participants reported on advances made in the field and debated the thorny ethical issues posed by the cutting-edge technology.

“I’m here really to be a light because there’s mixed feelings about gene editing. And I think people can see the positive result of it. You know that a person who was once suffering in life, was miserable, now is able to be a part of life and enjoy it,” Gray told CNN.

Gray’s uplifting story, which received a standing ovation from the audience, stood in contrast to a presentation made the last time the conference was held, in Hong Kong in 2018, when Chinese doctor He Jiankui stunned his peers and the world with the revelation that he had created the world’s first gene-edited babies.

The two girls grew from embryos He had modified using CRISPR-Cas9, which he said would make them resistant to HIV. His work was widely condemned by the scientific community, which decried the experiment as medically unnecessary and ethically irresponsible. He received a three-year jail sentence in 2019.

Questions about the baby scandal still linger more than four years later, and after being recently released from prison, He is reportedly seeking to continue his work. China has tightened its regulation of experimental biomedical research since 2018, but it hasn’t gone far enough, said Joy Zhang, a medical sociologist at the University of Kent in the United Kingdom.

“Ethical governance in practice is still confined to traditional medical, scientific, as well as educational, establishments. The new measures fail to directly address how privately funded research and other … ventures will be monitored,” Zhang said at the conference.

Ethically questionable experimental research isn’t an issue confined to China, said Robin Lovell-Badge, head of the Laboratory of Stem Cell Biology and Developmental Genetics at the Francis Crick Institute in London, who chaired the 2018 Hong Kong conference session in which He attempted to defend his work.

“(He Jiankui) is not the only concern in this area. One of our big concerns I always have is the possibility that there will be rogue companies, rogue scientists setting up to do genome editing in an inappropriate way,” Lovell-Badge said on Monday at the conference.

Gray shared her story at Monday's conference.

While the CRISPR baby scandal tarnished the technology’s reputation, CRISPR-Cas9 and related techniques have made a major impact on biomedical research, and two scientists behind the tool — Emmanuelle Charpentier and Jennifer A. Doudna — won a Nobel prize for their work in 2020.

“Clinical trial results demonstrate that CRISPR is safe, and it’s effective for treating and curing human disease — an extraordinary advance given the technology is only 10 years old,” Doudna said at the conference in a video address. “It’s important with a powerful technology like this to grapple with the challenges of responsible use.”

In addition to the sickle cell trial that includes Gray, clinical trials are also underway to test the safety of gene editing in treating several other conditions, including a related blood disorder called beta thalassemia; leber congenital amaurosis, which is a form of inherited childhood blindness; blood cancers such as leukemia and lymphoma; type 1 diabetes; and HIV/AIDS.

DNA acts as a instruction manual for life on our planet, and CRISPR-Cas9 can target sites in plant and animal cells using guide RNA to get the Cas-9 enzyme to a more precise spot on a strand of DNA. This allows scientists to change DNA by knocking out a particular gene or inserting new genetic material at a predetermined site in the strand.

People with sickle cell disease have abnormal hemoglobin in red blood cells that can cause them to get hard and sticky, clogging blood flow in small vessels.

In the trial that Gray was part of, doctors increased the production of a different kind of hemoglobin, known as fetal hemoglobin, which makes it harder for cells to sickle and stick together. The process is invasive and involves removing premature cells from the bone marrow and modifying them — by using CRISPR-Cas9 in the lab — to eventually produce fetal hemoglobin. The patient has to undergo a round of chemotherapy before receiving the gene-edited cells to ensure the body doesn’t reject them.

The conference also shed light on new, more sophisticated gene-editing techniques, such as prime editing and base editing, which recently was used to modify immune cells and successfully treat a teen with treatment-resistant leukemia.

These next generation techniques will allow humans “to have some say in the sequence of our genomes so we are no longer so beholden to the misspellings in our DNA,” said David Liu, the Richard Merkin professor and director of the Merkin Institute of Transformative Technologies in Healthcare at the Broad Institute of MIT and Harvard University.

The gene therapy trials currently underway involve treating people who were born with a certain disease or condition by altering non-reproductive cells in what’s known as somatic gene editing.

The next frontier — many would say red line — is heritable gene editing: altering the genetic material in human sperm, eggs or embryos so that it can be safely passed onto the next generation. The goal would be to prevent babies from inheriting genetic diseases.

A researcher handles a petri dish while observing a CRISPR/Cas9 process through a stereomicroscope at the Max-Delbrueck-Centre for Molecular Medicine in 2018.

“It’s a very different set of ethical trade-offs when you’re not a treating disease in an existing individual but you’re in fact preventing an individual yet to be born from suffering from a disease. That’s a very different set of considerations,” said George Daley, Caroline Shields Walker Professor of Medicine and dean of the faculty of medicine at Harvard Medical School.

In a statement released at the end of the conference, the organizers said “heritable human genome editing remains unacceptable at this time.”

They added that public discussion and policy debates should continue and were important for resolving whether this technology should be used.

The hope offered by gene therapy is creating fresh ethical storms — primarily over who gets access to such treatments. The therapy Gray received, which is expected to soon receive regulatory approval, is likely to cost more than $2 million per person, putting it out of reach for many who need it in the United States and in low-income countries.

“If we want to be serious about equitable access to these kinds of therapies, we have to start talking early on about ways to develop them and make them available and make them cost effective and sustainable,” said Alta Charo, the Warren P. Knowles Professor Emerita of Law and Bioethics at the University of Wisconsin at Madison.

Researchers want to develop CRISPR therapies that can be delivered though an injection rather than the chemotherapy and invasive bone marrow transplant Gray went through.

Worldwide, more than 300,000 children are born with sickle cell disease every year, over 75% of whom live in sub-Saharan Africa, where screening programs and treatment options are limited.

Even relatively affordable drugs to treat sickle cell disease, such as hydroxyurea, don’t reach everyone who needs them in India, said Gautam Dongre, the secretary of the National Alliance of Sickle Cell Organizations in India and father of two children with sickle cell disease.

“After 40 years if these drugs aren’t reachable for the common people, then what about gene therapy?” Dongre asked at the conference.

Julie Makani, an associate professor in the department of haematology and blood transfusion at Muhimbili University of Health and Allied Sciences in Tanzania, said more genomic research should take place in Africa.

“The ultimate thing for me, particularly as a physician scientist, is not just discovery, but also seeing the application of knowledge…into (an) improvement in health,” Makani said.

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Elite athletes with genetic heart disease can safely return to play with diagnosis and treatment, early study suggests | CNN



CNN
 — 

In a new study, most elite athletes with a diagnosed genetic heart disease did not experience serious or fatal symptoms of their condition, such as sudden cardiac death. The research suggests it can be “feasible” and “safe” for athletes to continue to participate in their sport.

Among a sample of 76 elite athletes with a genetic heart disease who had competed or are still competing in either Division I university or professional sports, 73 out of the 76 did not experience a cardiac event triggered by their disease during the study period, according to researchers behind a late-breaking clinical trial presented Monday at the American College of Cardiology’s Annual Scientific Session Together With the World Congress of Cardiology.

Among those elite athletes with a genetic heart disease, 40 of them – 52% – were asymptomatic, the study abstract finds.

Over the years, researchers have become more aware of alarming reports about elite athletes experiencing heart problems, or even suddenly collapsing during games.

“For athletes with genetic heart conditions, and I would add non-athletes, the tragedies occur when we don’t know of their condition,” said Dr. Michael Ackerman, a genetic cardiologist at Mayo Clinic in Rochester, Minnesota, who was a senior author of the new research. “When we know of their condition, and we assess the risk carefully and we treat it well, these athletes and non-athletes, they can expect to live and thrive despite their condition.”

The new research has not yet been published in a peer-reviewed journal, but the findings suggest that many athletes with a genetic heart disease can decide with their health care professionals on whether to continue competing in their sport and how to do so safely, instead of being automatically disqualified due to their health conditions.

“In sports, historically, we’ve been paternalistic and de-emphasize patient preference and risk tolerance, but we know that athletes come from all walks of life. They are intelligent and when there’s scientific uncertainty, their values should be incorporated in medical decision-making,” Dr. J. Sawalla Guseh, cardiologist at Massachusetts General Hospital, who was not involved in the new study, said during Monday’s scientific session.

“Shared decision-making when done well can have very favorable outcomes,” he said.

Elite basketball, hockey, soccer and football players, were among the 76 athletes included in the new study, conducted by researchers at Mayo Clinic and other institutions in the United States. They wrote in their study abstract that this is the first study to their knowledge describing the experience of athletes competing at the NCAA Division I level or in professional sports with a known genetic heart disease that puts them at risk of sudden cardiac death.

The athletes in the study were cleared for return-to-play at either a NCAA Division I school or at the professional level. They were studied over an average of seven years, and all had been diagnosed with a genetic heart disease in the past 20 years, being treated at either Mayo Clinic, Morristown Medical Center, Massachusetts General Hospital or Atrium Health Sports Cardiology Center.

“Only three of them had a breakthrough cardiac event, which means after they were diagnosed and treated, they were still having an event,” said Katherine Martinez, an undergraduate student at Loyola University in Baltimore, who helped conduct the research as an intern in the Mayo Clinic’s Windland Smith Rice Sudden Death Genomics Laboratory.

Fainting was the most common event, and one athlete received a shock with an implantable cardioverter defibrillator, or ICD. None of the athletes died.

“The majority of these athletes went on to continue their career with no events at all,” Martinez said. But most of the athletes in the study – 55 of them, or 72% – were initially disqualified from competing by their primary provider or institution after their diagnosis. Most ultimately opted to return to play with no restrictions after undergoing comprehensive clinical evaluations and talking with their doctors.

While each sports league has its own set of rules, historically, some people diagnosed with a genetic heart disease that puts them at an increased risk for sudden cardiac death have been restricted from competitive sports, the researchers wrote in their study abstract.

“Just because you were given this diagnosis, doesn’t mean that your life, your career, the future that you see for yourself is over, but taking a second opinion from an expert who knows what they’re doing and is comfortable with shared decision-making is the next step,” said Martinez, who worked on the new research alongside her father, Dr. Matthew Martinez, director of Atlantic Health System Sports Cardiology at Morristown Medical Center and an author of the new research.

Regarding the new study, “the take-home message is, if you have one of these findings, seek out an expert who’s going to help you identify a safe exercise plan for you and determine what level you can continue to safely participate in,” he said. “This is the next best step – the next evolution – of how we manage athletes with genetic heart disease.”

Leaving their sport due to a genetic heart disease can be “very destructive” for athletes who have devoted their lives to excelling in competitions, said Dr. Lior Jankelson, director of the Inherited Arrhythmia Program at NYU Langone Heart in New York, who was not involved in the new research.

Yet he added that these athletes still need to consult with their doctors and be watched closely because some genetic diseases could be more likely to cause a serious cardiac event than others.

The new study highlights that “the majority of athletes with genetic heart disease could probably – after careful, meticulous expert risk-stratification and care strategy – participate in sports,” Jankelson said. “But at the same time, this is exactly the reason why these patients should be cared only in high-expertise genetic cardiology clinics, because there are other conditions that are genetic, that could respond very adversely to sports, and have a much higher risk profile of developing an arrhythmia during intense activity.”

Separately, the NCAA Sports Science Institute notes on its website, “Though many student-athletes with heart conditions can live active lives and not experience health-related problems, sudden fatality from a heart condition remains the leading medical cause of death in college athletes.”

For athletes with a genetic heart disease, their symptoms and their family history of cardiac events should be considered when determining their risks, said Dr. Jayne Morgan, a cardiologist with Piedmont Healthcare in Atlanta, who was not involved in the new research.

“Certainly, there is concern with elite athletes competing and whether or not they are being screened appropriately,” Morgan said. But she added that the new research offers “some understanding” to the mental health implications for athletes with a genetic heart disease who may be required to step away from a competitive sport that they love.

“This study, I think, begins to go a long way in identifying that we may not need to pull the trigger so quickly and have athletes step away from something that they love,” Morgan said.

The new study is “timely” given the recent national attention on athletes and their risk of sudden cardiac death, Dr. Deepak Bhatt, director of Mount Sinai Heart in New York City, who was not involved in the research, said in an email.

“These are some of the best data showing that the risk of return to play may not be as high as we fear,” Bhatt said about the new research.

“Some caveats include that the majority of these athletes were not symptomatic and about a third had an implantable defibrillator,” he added. “Any decision to return to the athletic field should be made after a careful discussion of the potential risks, including ones that are hard to quantify. Input from experts in genetic cardiology and sports cardiology can be very helpful in these cases.”

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Older people with anxiety frequently don’t get help. Here’s why | CNN



CNN
 — 

Anxiety is the most common psychological disorder affecting adults in the United States. In older people, it’s associated with considerable distress as well as ill health, diminished quality of life and elevated rates of disability.

Yet when the US Preventive Services Task Force, an independent, influential panel of experts, suggested last year that adults be screened for anxiety, it left out one group — people 65 and older.

The major reason the task force cited in draft recommendations issued in September: “(T)he current evidence is insufficient to assess the balance of benefits and harms of screening for anxiety” in all older adults. (Final recommendations are expected later this year.)

The task force noted that questionnaires used to screen for anxiety may be unreliable for older adults. Screening entails evaluating people who don’t have obvious symptoms of worrisome medical or psychological conditions.

“We recognize that many older adults experience mental health conditions like anxiety,” and “we are calling urgently for more research,” said Lori Pbert, associate chief of the preventive and behavioral medicine division at the University of Massachusetts Chan Medical School and a former task force member who worked on the anxiety recommendations.

This “we don’t know enough yet” stance doesn’t sit well with some experts who study and treat older people with anxiety. Dr. Carmen Andreescu, an associate professor of psychiatry at the University of Pittsburgh, called the task force’s position baffling because “it’s well-established that anxiety isn’t uncommon in older adults and effective treatments exist.”

“I cannot think of any danger in identifying anxiety in older adults, especially because doing so has no harm and we can do things to reduce it,” said Dr. Helen Lavretsky, a psychology professor at UCLA.

In a recent editorial in JAMA Psychiatry, Andreescu and Lavretsky noted that only about one-third of seniors with generalized anxiety disorder — intense, persistent worry about everyday matters — receive treatment. That’s concerning, they said, considering evidence of links between anxiety and stroke, heart failure, coronary artery disease, autoimmune illness and neurodegenerative disorders such as dementia.

Other forms of anxiety commonly undetected and untreated in older adults include phobias (such as a fear of dogs), obsessive-compulsive disorder, panic disorder, social anxiety disorder (a fear of being assessed and judged by others) and post-traumatic stress disorder.

The smoldering disagreement over screening calls attention to the significance of anxiety in later life — a concern heightened during the Covid-19 pandemic, which magnified stress and worry among older people. Here’s what you should know.

According to a book chapter published in 2020, authored by Andreescu and a colleague, up to 15% of people 65 and older who live outside nursing homes or other facilities have a diagnosable anxiety condition.

As many as half have symptoms of anxiety — irritability, worry, restlessness, decreased concentration, sleep changes, fatigue, avoidant behaviors — that can be distressing but don’t justify a diagnosis, the study noted.

Most senior citizens with anxiety have struggled with this condition since earlier in life, but the way it manifests may change over time. Specifically, older adults tend to be more anxious about issues such as illness, the loss of family and friends, retirement and cognitive declines, experts said. Only a fraction develop anxiety after turning 65.

Older adults often minimize symptoms of anxiety, thinking “this is what getting older is like” rather than “this is a problem that I should do something about,” Andreescu said.

Also, they are more likely than younger adults to report “somatic” complaints — physical symptoms such as dizziness, fatigue, headaches, chest pain, shortness of breath and gastrointestinal problems — that can be difficult to distinguish from underlying medical conditions, according to Gretchen Brenes, a professor of gerontology and geriatric medicine at Wake Forest University School of Medicine.

Some types of anxiety or anxious behaviors — notably, hoarding and fear of falling — are much more common in older adults, but questionnaires meant to identify anxiety don’t typically ask about those issues, said Dr. Jordan Karp, chair of psychiatry at the University of Arizona College of Medicine in Tucson.

When older adults voice concerns, medical providers too often dismiss them as normal, given the challenges of aging, said Dr. Eric Lenze, head of psychiatry at Washington University School of Medicine in St. Louis and the third author of the recent JAMA Psychiatry editorial.

Simple questions can help identify whether an older adult needs to be evaluated for anxiety, he and other experts suggested: Do you have recurrent worries that are hard to control? Are you having trouble sleeping? Have you been feeling more irritable, stressed or nervous? Are you having trouble with concentration or thinking? Are you avoiding things you normally like to do because you’re wrapped up in your worries?

Stephen Snyder, 67, who lives in Zelienople, Pennsylvania, and was diagnosed with generalized anxiety disorder in March 2019, would answer “yes” to many of these queries. “I’m a Type A personality and I worry a lot about a lot of things — my family, my finances, the future,” he told me. “Also, I’ve tended to dwell on things that happened in the past and get all worked up.”

Psychotherapy — particularly cognitive behavioral therapy, which helps people address persistent negative thoughts — is generally considered the first line of anxiety treatment in older adults. In an evidence review for the task force, researchers noted that this type of therapy helps reduce anxiety in older people seen in primary care settings.

Also recommended, Lenze noted, is relaxation therapy, which can involve deep breathing exercises, massage or music therapy, yoga and progressive muscle relaxation.

Because mental health practitioners, especially those who specialize in geriatric mental health, are extremely difficult to find, primary care physicians often recommend medications to ease anxiety.

Two categories of drugs — antidepressants known as SSRIs (selective serotonin reuptake inhibitors) and SNRIs (serotonin-norepinephrine reuptake inhibitors) — are typically prescribed, and both appear to help to older adults, experts said.

Frequently prescribed to older adults, but to be avoided by them, are benzodiazepines, a class of sedating medications such as Valium, Ativan, Xanax, and Klonopin. The American Geriatrics Society has warned medical providers not to use these in older adults, except when other therapies have failed, because they are addictive and significantly increase the risk of hip fractures, falls and other accidents, and short-term cognitive impairments.

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Some experts say more women should consider removing fallopian tubes to reduce cancer risk | CNN



CNN
 — 

“Knowledge is power,” says Samantha Carlucci, 26. The Ravena, New York, resident recently had a hysterectomy that included removing her fallopian tubes – and believes it saved her life.

The Ovarian Cancer Research Alliance is drawing attention to the role of fallopian tubes in many cases of ovarian cancer and now says more women, including those with average risk, should consider having their tubes removed to cut their cancer risk.

About 20,000 women in the US were diagnosed with ovarian cancer in 2022, according to the National Cancer Institute, and nearly 13,000 died.

Experts have not discovered a reliable screening test to detect the early stages of ovarian cancer, leading them to rely on symptom awareness to diagnose patients, according to OCRA.

Unfortunately, symptoms of ovarian cancer often don’t present themselves until the cancer has advanced, causing the disease to go undetected and undiagnosed until it’s progressed to a later stage.

“If we had a test to detect ovarian cancer at early stages, the outcome of patients would be significantly better,” said Dr. Oliver Dorigo, director of the division of gynecologic oncology in the Department of Obstetrics and Gynecology at Stanford University Medical Center.

Until such a test is widely available, some researchers and advocates suggest a different way to reduce the risk: opportunistic salpingectomy, the surgical removal of both fallopian tubes.

Research has found that nearly 70% of ovarian cancer begins in the fallopian tubes, according to the Ovarian Cancer Research Alliance.

Doctors have already been advising more high-risk women to have a salpingectomy. Several factors can raise risk, including genetic mutations, endometriosis or a family history of ovarian or breast cancer, according to the US Centers for Disease Control and Prevention.

If they accept that they won’t be able to get pregnant afterward and if they are already planning on having pelvic surgery, it can be “opportunistic.”

“We are really talking about instances where a surgeon would already be in the abdomen anyway,” such as during a hysterectomy, said Dr. Karen Lu, professor and chair of the Department of Gynecologic Oncology and Reproductive Medicine at MD Anderson Cancer Center.

Although OCRA shifted its recommendation to include women with even an average risk of ovarian cancer, some experts continue to emphasize fallopian tube removal only for women with a high risk. Some are calling for more research on the procedure’s efficacy in women with an average risk.

Fallopian tubes are generally 4 to 5 inches long and about half an inch thick, according to Dorigo. During an opportunistic salpingectomy, both tubes are separated from the uterus and from a thin layer of tissue that extends along them from the uterus to the ovary.

The procedure can be done laparoscopically, with a thin instrument and a small incision, or through an open surgery, which involves a large incision across the abdomen.

The procedure adds roughly 15 minutes to any pelvic surgery, Dorigo said.

Unlike a total hysterectomy, in which a woman’s uterus, ovaries and fallopian tubes are removed, the removal of the tubes themselves does not affect the menstrual cycle and does not initiate menopause.

The risks associated with an opportunistic salpingectomy are also relatively low.

“Any surgery carries risk … so you do not want to enter any surgery without being thoughtful,” Lu said. “The risk of a salpingectomy to someone that is already undergoing surgery, though, I would say is minimal.”

Many women who have had the procedure say the benefit far outweighs the risk.

Carlucci had her fallopian tubes removed in January during a total hysterectomy, after testing positive for a genetic condition called Lynch syndrome that multiplied her risk of many kinds of cancers, including in the ovaries.

Several members of her family have died of colon and ovarian cancer, she said, and it prompted her to look into the available options.

Knowing that she could choose an opportunistic salpingectomy, which greatly decreased her chances of ovarian cancer, gave her hope.

As part of the total hysterectomy, it eliminated her risk of ovarian cancer.

“You can’t change your DNA, and no amount of dieting and exercise or medication is going to change it, and I felt horrible,” Carlucci said. “When I was given the news that this would 100% prevent me from ever having to deal with any ovarian cancer in my body, it was good to hear.”

Carlucci urges any woman with an average to high risk of ovarian cancer to talk to their doctor about the procedure.

“I know it seems scary, but this is something that you should do, or at the very least consider it,” she said. “It can bring so much relief knowing that you made a choice to keep you here for as long as possible.”

Monica Monfre Scantlebury, 45, of St. Paul, Minnesota, had a salpingectomy in March 2021 after witnessing a death related to breast and ovarian cancer in her family.

In 2018, Scantlebury’s sister was diagnosed with stage IV breast cancer at 27 years old.

“She went on to fight breast cancer,” Scantlebury said. “During the beginning of the pandemic, in March of 2020, she actually lost her battle to breast cancer at 29.”

During this period, Scantlebury herself found out that she was positive for BRCA1, a gene mutation that increases a person’s risk of breast cancer by 45% to 85% and the risk of ovarian cancer by 39% to 46%.

After meeting with her doctor and discussing her options, she decided to have a salpingectomy.

Her doctor told her she would remove the fallopian tubes and anything else of concern that she found during the procedure.

“When I woke up from surgery, she said there was something in my left ovary and that she had removed my left ovary and my fallopian tubes,” Scantlebury said.

Her doctor called about a week later and said there had been cancer cells in her left fallopian tube.

The salpingectomy had saved her life, the doctor said.

“We don’t have an easy way to be diagnosed until it is almost too late,” said Scantlebury, who went on to have a full hysterectomy. “This really saved my life and potentially has given me decades back that I might not have had.”

Audra Moran, president and CEO of the Ovarian Cancer Research Alliance, is sending one message to women: Know your risk.

Moran believes that if more women had the power of knowing their risk of ovarian cancer, more lives would be saved.

“Look at your family history. Have you had a history of ovarian cancer, breast cancer, colorectal or uterine in your family? Either side, male or female, father or mother?” Moran said. “If the answer is yes, then I would recommend talking to a doctor or talking to a genetic counselor.”

The alliance offers genetic testing resources on its website. A genetic counselor assess people’s risks for varying cancers based on inherited conditions, according to the US Bureau of Labor Statistics.

Carlucci and Scantlebury agree that understanding risk is key to preventing deaths among women.

“It’s my story. It’s her story. It’s my sister’s story … It is for all women,” Scantlebury said.

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Exclusive: Mark Zuckerberg And Priscilla Chan On Their New ‘Biohub’ In Chicago And How They Plan To Spend Billions To Help Others Cure Or Manage Disease

In a rare interview, the Meta Platforms CEO and his pediatrician wife, who are co-CEOs of the Chan Zuckerberg Initiative, discuss their plans to use technology to deepen understanding of human cells and tissues—and the impact they want it to have on human health.

By Kerry A. Dolan, Forbes Staff


Six and a half years ago, Facebook founder and CEO Mark Zuckerberg and his wife, Dr. Priscilla Chan, announced a $3 billion commitment to basic science research over a decade, including $600 million to create a biomedical research hub in San Francisco in collaboration with researchers from the University of California at San Francisco, the University of California at Berkeley and Stanford University. In late 2021 they promised another $3.4 billion toward science.

Today, the couple is announcing their new biohub in Chicago—to be funded with $250 million over a decade from that $6.4 billion from the Chan Zuckerberg Initiative. A collaboration among Northwestern University, the University of Chicago and the University of Illinois at Urbana-Champaign, the Chicago Biohub will work to better understand how human tissues function, using tiny sensors it will develop.

“If you look at the history of science, most big advances are preceded by new tools to observe things.” —Mark Zuckerberg


In an exclusive interview that took place just weeks before Chan’s due date for the couple’s third child, Zuckerberg and Chan, both now 38, sat down with Forbes last week to discuss the new Biohub and how their support of science research differs from the traditional model. They also talked about their very lofty goals regarding curing or managing all diseases.

Much of their scientific giving is built around the idea that better tools, paired with a deeper understanding of human biology, can help accelerate finding cures for diseases, managing them or preventing them altogether. “If you look at the history of science, most big advances are preceded by new tools to observe things, not just in biology but [also] with telescopes and supercolliders,” Zuckerberg explains.

Chan and Zuckerberg initially conceived of biohubs as a way to jump-start the development of such tools and discoveries. Unlike typical academic research labs backed by grants from the National Institutes of Health, the Chan Zuckerberg biohubs would partner with universities to take on big questions they wouldn’t tackle on their own, collaborate across scientific disciplines and come with a promise of at least a decade of funding from the Chan Zuckerberg Initiative.


INSIDE CZI’S BIG SCIENCE PUSH

The new biohub in Chicago is slated to start operations in April, and the imaging institute will open later this year.


The first CZ Biohub, founded in 2016 and located across the street from the UC at San Francisco’s Mission Bay campus, has been working in two broad areas: creating systems that detect and respond to infectious disease, and furthering understanding of how healthy and diseased human cells work. Six months after the Covid-19 pandemic hit the U.S., the CZ Biohub and UC at San Francisco released a study led by Biohub co-president Joe DeRisi, an infectious disease specialist and professor at UC at San Francisco, of the BinaxNow rapid Covid-19 tests–which confirmed that tests were reliable. That study helped spur wider adoption of rapid tests in the Bay Area and California, says DeRisi.

Now, members of DeRisi’s team are working on a potentially faster, cheaper and more accurate way to diagnose malaria—a disease that kills more than 600,000 people a year (mostly children), using a microscope equipped with ultraviolet light and machine learning algorithms that detect malaria in a patient’s blood sample, explains Paul Lebel, a CZ Biohub engineer who designed and built the microscope. Several of the specialized microscopes are currently part of a trial at a clinic in Uganda that is run by a team from UC at San Francisco.

To better understand the role of human cells, researchers at the CZ San Francisco Biohub, led by Stephen Quake, a professor of bioengineering at Stanford and the head of science for CZI, joined a consortium that has assembled a first draft of the human cell atlas—nearly 500,000 cells from 24 human organs. The atlas “tells us what all the different cells in your body are doing in healthy and sometimes diseased states,” explains Chan. “That is only possible when you bring together a large community, where you put concerted efforts . . . to build that comprehensive resource.” Quake notes that each of the research papers for the human cell atlas have a whopping 160 authors on them. CZI has provided funding for the project overall.

The early successes of the first biohub inspired Chan and Zuckerberg to expand—and double down on their philanthropic science efforts. To that end, in December 2021, CZI announced that Chan and Zuckerberg would invest up to $3.4 billion more over 10 to 15 years. Of that amount, $1 billion will go to the Chan Zuckerberg Biohub Network. “We knew we wanted to do more of these,” says Chan. “The question was where and what.” For the second biohub, 58 proposals (collaborations among universities) came in from across the U.S., and with help from a committee, Chan and Zuckerberg narrowed that down to 8 semifinalists, all of which, says Chan, had “something that we’d be excited to fund and be a part of.” The decision to choose Chicago came down to the strength of its proposal and the fact that these universities had previously shown that they could collaborate, Chan and Zuckerberg say.

To lead the Chicago Biohub, Chan and Zuckerberg selected Shana O. Kelley, a professor of chemistry and biomedical engineering at Northwestern who has focused on sensors and sensor technology, and has cofounded four companies based on technologies that have come out of her research. (One, Geneohm Sciences, was acquired by medical technology firm Becton Dickinson in 2006 for a reported $230 million.) Her expertise on sensors is tied to the groundbreaking work that the Chicago Biohub aims to tackle.

“The idea is to take human tissues and embed thousands of sensors into them, to make a completely new kind of measurement,” Kelley says via Zoom from Chicago. The experiments will use small samples of human tissue collected with consent during surgical procedures. Next, says Kelley, they will “watch what’s happening with cells and tissues–watch them communicating with one another to understand what happens when a tissue goes from being normal to being inflamed,” with the goal of comprehending how inflammation works and how it drives disease. More than 50% of deaths are attributed to diseases with some form of inflammation, she points out. The first experiments will start with skin tissue.


“This is the opportunity to do science the way we’ve always wanted to do it, with the constraints removed and the creativity just allowed to flow.” —Shana O. Kelley

The three universities each contribute an area of expertise to the Biohub, says Kelley: Northwestern is strong in sensing, the University of Chicago excels in inflammation and in quantum sensing, and the University of Illinois at Urbana-Champaign researchers have developed microfabrication systems and the ability to make miniaturized devices, which will be needed for making the ultra-tiny sensors.

“It’s hard to explain how excited people are here—that we’re going to have a Biohub, that we’re going to have the opportunity to work on these really important problems,” Kelley beams. “This is the opportunity of a lifetime. This is the opportunity to do science the way we’ve always wanted to do it, with the constraints removed and the creativity just allowed to flow.”

Some of the typical constraints to research are the time and effort it takes to apply for funding. And some of the cutting-edge work that the Chicago Biohub will take on might not have gotten money from the National Institutes of Health. “To get NIH funding you need to have a lot of preliminary data—and you have to have an idea that everybody agrees with,” says Kelley. “That doesn’t happen very often, especially with weird, out-of-the-box ideas that have the potential to be transformative.”

Chan, who attended medical school at UC at San Francisco and worked as a pediatrician before cofounding and becoming co-CEO of the Chan Zuckerberg Initiative, explains that their science philanthropy is, relatively speaking, small. “Science funding is a huge field and the NIH is the biggest player–they fund billions and billions of dollars every year. We’re always going to be tiny,” she says. “In all of our philanthropy we have to look for the niche that’s a good fit for what we bring to the table.”

That statement is quite a walk back for this power couple who, back in 2016, first announced plans to cure, manage and prevent all disease by the end of the century. What changed? Mostly messaging, Zuckerberg insists. “Mainly, we think it’s possible, and I generally just think it’s good to shoot for ambitious things,” he says about why they picked that goal. But then he quickly explains: “To be clear, we don’t think that we’re going to do this. The goal is to build tools so that way progress in the whole field can be accelerated.” That’s still a tall order.


“In all of our philanthropy we have to look for the niche that’s a good fit for what we bring to the table.” —Priscilla Chan

The biohubs are just one part of the CZI’s science activity. Last September Chan and Zuckerberg marked the launch at Harvard University of the Kempner Institute for the Study of Natural and Artificial Intelligence–named after Zuckerberg’s mother, Karen Kempner Zuckerberg, and supported with a $500 million pledge over 10 to 15 years to operate it. Later this year, the couple will open the Chan Zuckerberg Institute for Advanced Biological Imaging in Redwood City, California, and have allocated from $600 million to $900 million to support that institute over a decade. In all likelihood, there will be more biohubs. Quake, the Stanford professor who is head of science for CZI, is tasked as part of his job with launching new biohubs; he declined to say how many more are planned.

Science is also just one part of what the Chan Zuckerberg Initiative funds—though it is the biggest piece, in terms of dollars and people. The other broad areas are education and supporting communities in the Bay Area—with programs that address housing affordability and homelessness. Back in December 2015, to mark the birth of their first child, Chan and Zuckerberg pledged to direct 99% of their Facebook (now called Meta Platforms) stock over the course of their lives to “further the mission of advancing human potential and promoting equality by means of philanthropic public advocacy and other activities for the public good.” At the time, that was a $45 billion promise. Meta’s stock is now 65% more valuable, making their pledge worth more like $74 billion, $3.9 billion of which they’ve already dispensed, through both the CZI Foundation and through donor-advised funds. (CZI is set up as a limited liability company, which provides less transparency than a typical private charitable foundation.)

How do Zuckerberg and Chan fit the CZI co-CEO work into their schedules? This is Chan’s full-time job—though she does still maintain her pediatric credentials and sometimes volunteers in that capacity. Her aim, she says, is to look at “how we do what we do better, in terms of our skill sets. And how do we continuously iterate and get better at solving the problems that we’re working on. It’s been awesome.” Says Zuckerberg, who’s got his hands full as CEO of Meta Platforms, which has faced a decline in ad revenues and laid off 11,000 employees late last year: “I spend a bunch of time on this, but it’s probably at the level of any of the major organizations that I’m overseeing. So, I might spend as much time on this as I spend on WhatsApp or Instagram.”

As exciting as all the scientific discovery is, one thing that Chan and Zuckerberg haven’t mentioned in their vision to cure or manage all disease are the complexities of delivering the treatments that will be discovered. The Covid-19 pandemic highlighted the gaps in healthcare and the public health system in the U.S. and elsewhere. “People tend to think that the tough part is the basic science part. Unfortunately, there isn’t an appreciation of what needs to happen thereafter,” says Dr. Wafaa El-Sadr, a professor of epidemiology and medicine at Columbia University’s Mailman School of Public Health. “Whether it’s a technology or a test or a medicine, it’s understanding who wants it, how can they get it, how can they afford it, how can they trust it. There are so many different steps.”

Dr. Gary Désir, a physician-scientist and the chair of internal medicine at the Yale School of Medicine, points out the limited role that medical treatments play in the outcome of major diseases like diabetes, hypertension and heart disease–typically just 20%, according to public health experts. “Exercise and eating well and not doing things that are detrimental to your health—those three things drive the major outcomes of chronic disease. The impact of medicine is actually quite limited,” says Désir. He also points out that different people respond differently to the same medical treatments based on their zip code. “It has to do with income, education, the environment where you live–whether it is polluted or not,” he explains. “You’d make a lot of progress [in reducing disease] by getting rid of poverty and feeding people.”

Jeff MacGregor, a spokesperson for CZI, explains that the mission of CZI’s science efforts is to support the science and technology that would make it possible to cure, prevent or manage all disease–but that it often gets shortened to just the last part. “We’re not necessarily experts in global health,” says MacGregor. “Our focus in the larger ecosystem is on basic science and technology.”

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