Citizen Cartwright

Researchers release ‘pangenome’ showing human diversity

The genome being used to determine your chance of getting heart disease or the cancer treatment you would respond to has been put together from bits and pieces of genetic material from a few people of mostly European and African ancestry.

 

Now, the first “pangenome,” representing individuals with ancestry from across the globe, could improve the genetic testing for various diseases and even provide new insights into human evolution and biology, says Science. 

 

And researchers are aiming to sequence new genomes from other regions that have been historically underrepresented, such as the Middle East.

 

Sarah Tishkoff, a human geneticist at the University of Pennsylvania who was not involved in the new study in the journal Nature, says there’s a lot more diversity out there. “But this is a great start.”

It’s a 'golden age' for drug treatments, but who can afford them?

"Advances in science and immense investments by the federal government and drug companies have completely altered prospects for people with conditions that seemed untreatable in almost every area of medicine — cancers, allergies, skin diseases, genetic afflictions, neurological disorders, obesity," says The New York Times. 

 

But for many people with private insurance, innovative medicines are unaffordable, says the Times. And Medicare has a $10,000 co-pay (the Inflation Reduction Act limited the co-pay to $2,000, but not until 2025). Medicaid doesn’t always pay for expensive drugs.

 

Researchers for Brigham and Women’s Hospital in Massachusetts found that the median price of a new drug was about $180,000 in 2021, up from $2,100 in 2008.

 

The new era in treating previously intractable diseases began with major scientific leaps after the turn of the century, enabling researchers to find genes they could target to treat cancers and other diseases, says the Times. Scientists could harness the immune system or suppress it and even alter patients’ DNA with gene therapy.

“Today’s drugs are more effective because they target the biology of disease,” says Dr. Daniel Skovronsky, chief scientific and medical officer of drugmaker Eli Lilly, which has new treatments for obesity, mantle cell lymphoma and Alzheimer’s.

 

Skovronsky calls previous drugs to treat diseases like psoriasis or rheumatoid arthritis “blunt instruments” that shut down the immune system but had serious side effects.

“Yesterday’s drugs were moderately effective in treating a 

broader population,” he says.

 

But the new drugs often are extremely expensive to produce. At Lilly, Skovronsky says, the company will spend more than $8 billion in 2023 on drug research and development.

 

Not only are the new drugs expensive to research and develop, but some treatments are for just a few patients with very rare diseases. Some, like gene therapy, are used just once, rather than over a person’s lifetime.

 

One sign that a treatment is working, experts say, is a widening gap in outcomes between wealthy patients and everybody else, says the Times. This is in part because when the prices for miracle drugs reach hundreds of thousands or even millions of dollars, many people don't fill prescriptions because they can't afford them.

 

Dr. Otis Brawley, a professor of oncology and epidemiology at Johns Hopkins University, points to cancer, with a death rate among Americans who have college educations (a proxy for wealth) at 90.9 per 100,000 per year. For people with a high school education or less, the rate is 247.3.

 

Ultraexpensive drugs include not just new medications but also older medications that drug companies have hiked the prices of in the last few decades, says the Times. For example, the price for Revlimid, which treats blood cancers, now is three times its cost when it first was introduced in 2005.

 

Often, even people who can afford commercial health coverage or get it through their employer may face insurers that refuse to pay. Other times, the insurer pays part of the cost, but high co-pays, deductibles and cost sharing put treatments out of reach.

 

“The idea that the care you deliver could bankrupt somebody and hurt an entire family is devastating,” says Dr. Benjamin Breyer, a reconstructive urologist at the University of California, San Francisco who's studied the issue.

 

The PAN Foundation helps people with an annual income about 4 to 5 times the federal poverty level with high medical bills for about 70 illnesses. But a foundation official says the need is so great that "we are just scratching the surface.”

 

A ProPublica article says: "More than 200 million Americans are covered by private health insurance. But data from state and federal regulators shows that insurers reject about 1 in 7 claims for treatment. Many people, faced with fighting insurance companies, simply give up: One study found that Americans file formal appeals on only 0.1 percent of claims denied by insurers under the Affordable Care Act." 

KHN: Private equity investing billions in clinical drug trials

After its success investing in the more obviously lucrative areas of American medicine — like surgery centers and dermatology practices — private equity firms have moved into the industry’s more hidden niches, including clinical drug trials, says Kaiser Health News.

 

The article is part of KHN’s extensive investigation of "the sizeable efforts by private equity investors to take over large and lucrative parts of the U.S health care system in recent years,” says KHN’s parent, the Kaiser Family Foundation.

 

To bring a new drug to market, the Food and Drug Administration requires pharmaceutical companies to perform extensive studies to demonstrate safety and efficacy — which often are expensive and time-consuming to conduct to the agency’s specifications. Getting a drug to market a few months sooner and for less expense than usual can mean millions in profit for the manufacturer.

 

"That is why a private equity-backed startup like Headlands Research saw an opportunity in creating a network of clinical sites and wringing greater efficiency out of businesses, to perform this critical scientific work faster. And why Moderna, Pfizer, Biogen, and other drug industry bigwigs have been willing to hire it — even though it’s a relatively new player in the field, formed in 2018 by investment giant KKR,” says KHN.

 

In July 2020, Headlands announced that it had won contracts to run clinical trials of coronavirus vaccines, which would include shots for AstraZeneca, Johnson & Johnson, Moderna and Pfizer.

 

Headlands’ sites also ran clinical studies on treatments for ailments including Type 2 diabetes, postpartum depression, asthma, liver disease, migraines, and endometriosis, KHN says.

 

Eleven of the 25 private equity firms identified by industry tracker PitchBook as the top investors in health care have bought stakes in clinical research companies, according to a KHN analysis. The companies have been involved in studies ranging from the coronavirus vaccines to treatments for ovarian cancer, Parkinson’s disease and Alzheimer’s.

"Contracted firms also analyze patient data and prepare materials to secure approval from regulatory agencies, in hopes of getting more drugs to market faster,” says KHN. "And a big draw for investors: Clinical research companies make money whether or not a drug succeeds, making it less risky than investing in a drug company.”

 

The number of clinical trials has increased to more than 434,000 registered studies this year as of late November, more than triple the number a decade ago, KHN says.

 

Here are KHN’s other articles on private equity’s investments in health care.

Boys should start school a year later than girls

So says Richard Reeves, a senior fellow at the Brookings Institution, in an article in The Atlantic adapted from his forthcoming book, "Of Boys and Men: Why the Modern Male Is Struggling, Why It Matters, and What to Do About It.”

 

Here is an excerpt of his excerpt:

 

“The fact that boys mature later than girls is one known to every parent, and certainly to every teacher,” Reeves says. "According to a Rand survey, teachers are three times more likely to delay entry for their own sons than their own daughters. The maturity gap is now demonstrated conclusively by neuroscience: Brain development follows a different trajectory for boys than it does for girls. But this fact is entirely ignored in broader education policy, even as boys fall further behind girls in the classroom.

 

“On almost every measure of educational success from pre-K to postgrad, boys and young men now lag well behind their female classmates," he says. "The trend is so pronounced that it can result only from structural problems. Affluent parents and elite schools are tackling the issue by giving boys more time. But in fact it is boys from poorer backgrounds who struggle the most in the classroom, and these boys, who could benefit most from the gift of time, are the ones least likely to receive it. Public schools usually follow an industrial model, enrolling children automatically based on their birth date. Administrators in the public system rarely have the luxury of conversations with parents about school readiness.

 

“But public-school kids should have the same opportunities as private-school kids, and public-school officials should be able to have those conversations. As a matter of policy, the public schools that aren’t already flexible about school start should be made so — and I believe that, as the default, all states and school districts should enroll boys a year later than girls.

 

“A proposal to give a boost to boys may sound odd to some, given the inequities that many girls and women still face. But I am betting on our ability to think two thoughts at once. There is much still to be done to promote female representation in politics and corporate leadership, for example. But as to education, boys and men are the ones who need the most help. And it’s not an issue only for them. When schools fail boys, those boys grow into men lacking the skills to flourish in the workplace, to be strong partners, or to be good providers for their children. Giving boys the gift of time will help create a better society not just for men, but for women and children too.

 

“In the span of just a few decades, girls and women have not only caught up with boys and men in the classroom — they have blown right past them. Half a century ago, the landmark Title IX law was passed to promote gender equality in higher education. At the time, there was a gap of 13 percentage points in the proportion of bachelor’s degrees going to men compared with women. Today, the gender gap is a little wider — 15 percentage points as of 2019 — but the other way around. For every three female college students, there are only about two men. The trend worsened during the pandemic. College enrollment as a whole declined in 2020 — but that decline was seven times greater for male than for female students.

 

"It’s hard for some people to get their head around the idea that in many areas of life, and above all in education, boys and men are now the ones who need the most help. We have a National Coalition for Women and Girls in Education, but no equivalent for men. Thousands of academic scholarships are aimed at young women, almost none at young men. This lag is understandable, given the dizzying speed with which the gender gap has reversed. But we can start to address this new gap — right now, at the very beginning of the educational journey — simply by giving boys an extra year to mature."

 

As you know, readers, I tutor children and teens. I agree with Reeves.

Global warming was predicted as early as 1824

My thanks to the reader who emailed a photo of an article from a New Zealand newspaper in 1912 saying the use of coal was adding about 7 billion tons of carbon dioxide to the atmosphere a year. “This tends to make the air a more effective blanket for the Earth and to raise its temperature. The effect may be considerable in a few centuries.”

 

“Today’s headlines make climate change seem like a recent discovery,” says a 2019 article in JSTOR Daily, which aims to provide context for current events using peer-reviewed research. But “global warming was officially discovered more than 100 years ago,” JSTOR says.

 

In an 1824 paper, Joseph Fourier, a French mathematician and physicist, hypothesized that gases in the atmosphere create barriers that trap heat.

 

And in an 1837 paper, he surmised that over a long period of time, the amount of heat in the atmosphere could change — altered by both the Earth’s natural evolution and human activity. 

 

“The establishment and progress of human society, and the action of natural powers, may, in extensive regions, produce remarkable changes in the state of the surface, the distribution of the waters, and the great movements of the air,” Fourier predicted. “Such effects, in the course of some centuries, must produce variations in the mean temperature for such places.”

 

In 1856, amateur scientist and suffragette Eunice Newton Foote for the first time tested the heat-trapping capabilities of various gases and concluded that carbon dioxide was a heat-trapping gas.

 

Then, in 1896, the Swedish physicist Svante Arrhenius created what was, in effect, the first model of climate change.

 

"Despite having done his work by hand, using data that even he regarded as woefully inadequate, Arrhenius reached 'a conclusion that millions of dollars worth of research over the ensuing century hardly changed at all,’” JSTOR says.

Developing our personal resilience in challenging times

In my own effort to look at what’s happening in our world in a balanced way, I’ve found some free online webinars to be helpful.

 

And one of them is coming up next month. From Sept. 13 to 18, 2022, you can watch online presentations by 36 top authors, scientists, mindfulness and compassion teachers, trauma experts, habit-change specialists, mindset and performance coaches, and self-care experts in health, well-being, and relationships. The presentations are produced by the Heart Mind Institute and Wisdom for Life.

 

Here are more information and the free sign-up.

Our ever-increasing understanding of the human brain

I was happy to stumble yesterday on Knowable Magazine, a nonprofit online publication started in 2017 by science publisher Annual Reviews to make information from its 51 journals accessible to the general reader.

 

Someone who’s frustrated by their adolescent child may find comfort in this article.

 

And here is an article on how a citizen science project and canine MRI scans (don’t miss the video) are helping us understand dementia in elderly humans.

The Webb telescope photos launching astronomy’s ‘next great era’

It must be way beyond exciting for astronomers right now. The James Webb Space Telescope, 100 times more powerful than the Hubble and capable of capturing longer infrared wavelengths, lets them see galaxies that are farther away and further back in time than ever before.

 

They're seeing "structures that, honestly, we don't even know what they are,” says Amber Straughn, deputy project scientist for Webb.

 

On Tuesday morning, Webb provided "a spectacular slide show of our previously invisible nascent cosmos,” says The New York Times. "Ancient galaxies carpeting the sky like jewels on black velvet. Fledgling stars shining out from deep within cumulus clouds of interstellar dust. Hints of water vapor in the atmosphere of a remote exoplanet.

"Their sum is both a new vision of the universe and a view of the universe as it once appeared new,” says the Times.

“That was always out there,” says Jane Rigby, the telescope’s operations manager. “We just had to build a telescope to go see what was there.”

 

Because the universe is expanding, those earliest stars and galaxies are rushing away from Earth so fast that their light is shifted to longer, redder wavelengths, much as the sound from an ambulance’s siren shifts to a lower register as it speeds by, says the Times. The light from the farthest away and earliest galaxies and stars, once blue, is now infrared “heat” radiation, invisible to the eye. As is the radiation from carbon, ozone and other molecules that are of great interest to astrobiologists.

 

Here are:

 

NASA images

 

Space Telescope Science Institute photo gallery, plus videos, posters, hands-on activities and more

 

CNET explanation of the wavelengths of light humans can and can’t see

What’s so great about the James Webb Space Telescope

On Tuesday morning at 10:30 a.m. EDT, NASA is to make public some of the telescope's first images. You can watch here.

 

On Monday, President Biden unveiled the first photo. I was disappointed that scientists didn’t explain in detail what we were seeing. Apparently, they have a lot of work to do to find that out themselves. Gotta say, though, that whatever it was we were seeing in the galaxy cluster euphoniously called SMACS 0723, it was impressive that we were seeing it as it looked 4.6 billion years ago.

 

“Webb can see backwards in time to just after the Big Bang by looking for galaxies that are so far away that the light has taken many billions of years to get from those galaxies to our telescopes,” says Jonathan Gardner, Webb’s deputy project scientist.

 

(A light-year is the distance traveled by light in one year, about 5,880,000,000,000 miles or 9,460,000,000,000 kilometers. Since it takes light as long to travel from there to here as the distance in light-years, when we look at an object that's a million light-years away, we see it now here as it was a million years ago there, NASA says. So looking deep into space is looking far back in time.)

 

Thomas Zurbuchen, NASA’s science mission chief, says that with the new telescope, the cosmos is “giving up secrets that had been there for many, many decades, centuries, millennia. It’s not an image. It’s a new world view that you’re going to see."

 

So let’s prepare for what we’ll see Tuesday by looking at the ways Webb is important and such an advance beyond the Hubble telescope that’s been operating for 30 years.

 

Webb is designed to look deeper into space than Hubble, to see the earliest stars and galaxies that formed in the universe and to look deeply into nearby dust clouds to study the formation of stars and planets.

 

Here are some excellent NASA graphics that explain how Webb will do this.

Here are FAQs about Webb, from NASA.

Why only some people with symptoms are testing positive for the coronavirus

Some people who are vaccinated and are exposed to the coronavirus get symptoms but don’t test positive.

 

Science journalist Melinda Wenner Moyer has asked experts why and written up her findings in an article for The New York Times.

 

“Your immune system kicks into action a lot faster if you’re vaccinated versus not vaccinated," says Gigi Gronvall, an immunologist at the Johns Hopkins Center for Health Security in Baltimore.

 

“This is what the vaccines are there for — to educate your immune system so that it gets a jump on the invaders before they are able to replicate out of control,” Gronvall says.

 

Because the virus doesn’t replicate as quickly in vaccinated people, they may be less likely to test positive after coronavirus exposure because their immune system “keeps the viral load below the level of detection,” says Juliet Morrison, a microbiologist at the University of California at Riverside.

 

Even if a vaccinated person doesn’t have much virus in their body, they still can have powerful coronavirus symptoms, experts say. That’s because many illness symptoms — fever, malaise, runny nose, fatigue — actually are caused by the immune system’s response to the virus, rather than the virus itself, Gronvall says.

 

It’s also possible that some people have symptoms but test negative because the virus replicates in parts of their body that the tests don't reach. Research suggests that the coronavirus can replicate in the pancreas, heart, brain, kidneys and other organs, though vaccination may reduce the chance that the virus spreads outside the respiratory system.

 

There’s also a difference between never testing positive and not yet testing positive, experts say. Many people only test for a couple of days, and it isn’t possible to draw clear conclusions from just a couple of negative tests.

 

Gronvall says people who've had two or three vaccine doses ideally should test once they start developing symptoms and continue to test on day four or five of symptoms, as tests that come back negative before then may be falsely reassuring. 

 

This requires access to lots of tests. You now can get a third round of free coronavirus tests through the federal government And there may be free testing sites near you, says the Times.