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Javier E

Opinion | How Genetics Is Changing Our Understanding of 'Race' - The New York Times - 0 views

  • In 1942, the anthropologist Ashley Montagu published “Man’s Most Dangerous Myth: The Fallacy of Race,” an influential book that argued that race is a social concept with no genetic basis.
  • eginning in 1972, genetic findings began to be incorporated into this argument. That year, the geneticist Richard Lewontin published an important study of variation in protein types in blood. He grouped the human populations he analyzed into seven “races” — West Eurasians, Africans, East Asians, South Asians, Native Americans, Oceanians and Australians — and found that around 85 percent of variation in the protein types could be accounted for by variation within populations and “races,” and only 15 percent by variation across them. To the extent that there was variation among humans, he concluded, most of it was because of “differences between individuals.”
  • In this way, a consensus was established that among human populations there are no differences large enough to support the concept of “biological race.” Instead, it was argued, race is a “social construct,” a way of categorizing people that changes over time and across countries.
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  • t is true that race is a social construct. It is also true, as Dr. Lewontin wrote, that human populations “are remarkably similar to each other” from a genetic point of view.
  • this consensus has morphed, seemingly without questioning, into an orthodoxy. The orthodoxy maintains that the average genetic differences among people grouped according to today’s racial terms are so trivial when it comes to any meaningful biological traits that those differences can be ignored.
  • With the help of these tools, we are learning that while race may be a social construct, differences in genetic ancestry that happen to correlate to many of today’s racial constructs are real.
  • I have deep sympathy for the concern that genetic discoveries could be misused to justify racism. But as a geneticist I also know that it is simply no longer possible to ignore average genetic differences among “races.”
  • Groundbreaking advances in DNA sequencing technology have been made over the last two decades
  • Care.
  • The orthodoxy goes further, holding that we should be anxious about any research into genetic differences among populations
  • You will sometimes hear that any biological differences among populations are likely to be small, because humans have diverged too recently from common ancestors for substantial differences to have arisen under the pressure of natural selection. This is not true. The ancestors of East Asians, Europeans, West Africans and Australians were, until recently, almost completely isolated from one another for 40,000 years or longer, which is more than sufficient time for the forces of evolution to work
  • I am worried that well-meaning people who deny the possibility of substantial biological differences among human populations are digging themselves into an indefensible position, one that will not survive the onslaught of science.
  • I am also worried that whatever discoveries are made — and we truly have no idea yet what they will be — will be cited as “scientific proof” that racist prejudices and agendas have been correct all along, and that those well-meaning people will not understand the science well enough to push back against these claims.
  • This is why it is important, even urgent, that we develop a candid and scientifically up-to-date way of discussing any such difference
  • While most people will agree that finding a genetic explanation for an elevated rate of disease is important, they often draw the line there. Finding genetic influences on a propensity for disease is one thing, they argue, but looking for such influences on behavior and cognition is another
  • Is performance on an intelligence test or the number of years of school a person attends shaped by the way a person is brought up? Of course. But does it measure something having to do with some aspect of behavior or cognition? Almost certainly.
  • Recent genetic studies have demonstrated differences across populations not just in the genetic determinants of simple traits such as skin color, but also in more complex traits like bodily dimensions and susceptibility to diseases.
  • in Iceland, there has been measurable genetic selection against the genetic variations that predict more years of education in that population just within the last century.
  • consider what kinds of voices are filling the void that our silence is creating
  • Nicholas Wade, a longtime science journalist for The New York Times, rightly notes in his 2014 book, “A Troublesome Inheritance: Genes, Race and Human History,” that modern research is challenging our thinking about the nature of human population differences. But he goes on to make the unfounded and irresponsible claim that this research is suggesting that genetic factors explain traditional stereotypes.
  • 139 geneticists (including myself) pointed out in a letter to The New York Times about Mr. Wade’s book, there is no genetic evidence to back up any of the racist stereotypes he promotes.
  • Another high-profile example is James Watson, the scientist who in 1953 co-discovered the structure of DNA, and who was forced to retire as head of the Cold Spring Harbor Laboratories in 2007 after he stated in an interview — without any scientific evidence — that research has suggested that genetic factors contribute to lower intelligence in Africans than in Europeans.
  • What makes Dr. Watson’s and Mr. Wade’s statements so insidious is that they start with the accurate observation that many academics are implausibly denying the possibility of average genetic differences among human populations, and then end with a claim — backed by no evidence — that they know what those differences are and that they correspond to racist stereotypes
  • They use the reluctance of the academic community to openly discuss these fraught issues to provide rhetorical cover for hateful ideas and old racist canards.
  • This is why knowledgeable scientists must speak out. If we abstain from laying out a rational framework for discussing differences among populations, we risk losing the trust of the public and we actively contribute to the distrust of expertise that is now so prevalent.
  • If scientists can be confident of anything, it is that whatever we currently believe about the genetic nature of differences among populations is most likely wrong.
  • For example, my laboratory discovered in 2016, based on our sequencing of ancient human genomes, that “whites” are not derived from a population that existed from time immemorial, as some people believe. Instead, “whites” represent a mixture of four ancient populations that lived 10,000 years ago and were each as different from one another as Europeans and East Asians are today.
  • For me, a natural response to the challenge is to learn from the example of the biological differences that exist between males and females
  • The differences between the sexes are far more profound than those that exist among human populations, reflecting more than 100 million years of evolution and adaptation. Males and females differ by huge tracts of genetic material
  • How do we accommodate the biological differences between men and women? I think the answer is obvious: We should both recognize that genetic differences between males and females exist and we should accord each sex the same freedoms and opportunities regardless of those differences
  • fulfilling these aspirations in practice is a challenge. Yet conceptually it is straightforward.
  • Compared with the enormous differences that exist among individuals, differences among populations are on average many times smaller, so it should be only a modest challenge to accommodate a reality in which the average genetic contributions to human traits differ.
Javier E

Denying Genetics Isn't Shutting Down Racism, It's Fueling It - 0 views

  • For many on the academic and journalistic left, genetics are deemed largely irrelevant when it comes to humans. Our large brains and the societies we have constructed with them, many argue, swamp almost all genetic influences.
  • Humans, in this view, are the only species on Earth largely unaffected by recent (or ancient) evolution, the only species where, for example, the natural division of labor between male and female has no salience at all, the only species, in fact, where natural variations are almost entirely social constructions, subject to reinvention.
  • if we assume genetics play no role, and base our policy prescriptions on something untrue, we are likely to overshoot and over-promise in social policy, and see our rhetoric on race become ever more extreme and divisive.
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  • Reich simply points out that this utopian fiction is in danger of collapse because it is not true and because genetic research is increasingly proving it untrue.
  • “You will sometimes hear that any biological differences among populations are likely to be small, because humans have diverged too recently from common ancestors for substantial differences to have arisen under the pressure of natural selection. This is not true. The ancestors of East Asians, Europeans, West Africans and Australians were, until recently, almost completely isolated from one another for 40,000 years or longer, which is more than sufficient time for the forces of evolution to work.” Which means to say that the differences could be (and actually are) substantial.
  • If you don’t establish a reasonable forum for debate on this, Reich argues, if you don’t establish the principle is that we do not have to be afraid of any of this, it will be monopolized by truly unreasonable and indeed dangerous racists. And those racists will have the added prestige for their followers of revealing forbidden knowledge.
  • so there are two arguments against the suppression of this truth and the stigmatization of its defenders: that it’s intellectually dishonest and politically counterproductive.
  • Klein seems to back a truly extreme position: that only the environment affects IQ scores, and genes play no part in group differences in human intelligence. To this end, he cites the “Flynn effect,” which does indeed show that IQ levels have increased over the years, and are environmentally malleable up to a point. In other words, culture, politics, and economics do matter.
  • But Klein does not address the crucial point that even with increases in IQ across all races over time, the racial gap is still frustratingly persistent, that, past a certain level, IQ measurements have actually begun to fall in many developed nations, and that Flynn himself acknowledges that the effect does not account for other genetic influences on intelligence.
  • In an email exchange with me, in which I sought clarification, Klein stopped short of denying genetic influences altogether, but argued that, given rising levels of IQ, and given how brutal the history of racism against African-Americans has been, we should nonetheless assume “right now” that genes are irrelevant.
  • My own brilliant conclusion: Group differences in IQ are indeed explicable through both environmental and genetic factors and we don’t yet know quite what the balance is.
  • We are, in this worldview, alone on the planet, born as blank slates, to be written on solely by culture. All differences between men and women are a function of this social effect; as are all differences between the races. If, in the aggregate, any differences in outcome between groups emerge, it is entirely because of oppression, patriarchy, white supremacy, etc. And it is a matter of great urgency that we use whatever power we have to combat these inequalities.
  • Liberalism has never promised equality of outcomes, merely equality of rights. It’s a procedural political philosophy rooted in means, not a substantive one justified by achieving certain ends.
  • A more nuanced understanding of race, genetics, and environment would temper this polarization, and allow for more unifying, practical efforts to improve equality of opportunity, while never guaranteeing or expecting equality of outcomes.
  • In some ways, this is just a replay of the broader liberal-conservative argument. Leftists tend to believe that all inequality is created; liberals tend to believe we can constantly improve the world in every generation, forever perfecting our societies.
  • Rightists believe that human nature is utterly unchanging; conservatives tend to see the world as less plastic than liberals, and attempts to remake it wholesale dangerous and often counterproductive.
  • I think the genius of the West lies in having all these strands in our politics competing with one another.
  • Where I do draw the line is the attempt to smear legitimate conservative ideas and serious scientific arguments as the equivalent of peddling white supremacy and bigotry. And Klein actively contributes to that stigmatization and demonization. He calls the science of this “race science” as if it were some kind of illicit and illegitimate activity, rather than simply “science.”
  • He goes on to equate the work of these scientists with the “most ancient justification for bigotry and racial inequality.” He even uses racism to dismiss Murray and Harris: they are, after all, “two white men.
  • He still refuses to believe that Murray’s views on this are perfectly within the academic mainstream in studies of intelligence, as they were in 1994.
  • Klein cannot seem to hold the following two thoughts in his brain at the same time: that past racism and sexism are foul, disgusting, and have wrought enormous damage and pain and that unavoidable natural differences between races and genders can still exist.
  • , it matters that we establish a liberalism that is immune to such genetic revelations, that can strive for equality of opportunity, and can affirm the moral and civic equality of every human being on the planet.
  • We may even embrace racial discrimination, as in affirmative action, that fuels deeper divides. All of which, it seems to me, is happening — and actively hampering racial progress, as the left defines the most multiracial and multicultural society in human history as simply “white supremacy” unchanged since slavery; and as the right viscerally responds by embracing increasingly racist white identity politics.
  • liberalism is integral to our future as a free society — and it should not falsely be made contingent on something that can be empirically disproven. It must allow for the truth of genetics to be embraced, while drawing the firmest of lines against any moral or political abuse of it
Emily Horwitz

Scientists to Seek Clues to Violence in Genome of Gunman in Newtown, Conn. - NYTimes.com - 0 views

  • In a move likely to renew a longstanding ethical controversy, geneticists are quietly making plans to study the DNA of Adam Lanza, 20, who killed 20 children and seven adults in Newtown, Conn. Their work will be an effort to discover biological clues to extreme violence.
  • other experts speculated that the geneticists might look for mutations that might be associated with mental illnesses and ones that might also increase the risk for violence.
  • But whatever they do, this apparently is the first time researchers will attempt a detailed study of the DNA of a mass killer.
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  • Dr. Arthur Beaudet, a professor at the Baylor College of Medicine and the chairman of its department of molecular and human genetics, applaud the effort. He believes that the acts committed by men like Mr. Lanza and the gunmen in other rampages in recent years — at Columbine High School and in Aurora, Colo., in Norway, in Tucson and at Virginia Tech — are so far off the charts of normal behavior that there must be genetic changes driving them.
  • Everything known about mental illness, these skeptics say, argues that there are likely to be hundreds of genes involved in extreme violent behavior, not to mention a variety of environmental influences, and that all of these factors can interact in complex and unpredictable ways.
  • The National Institutes of Health was embroiled in controversy about 20 years ago simply for proposing to study the biological underpinnings of violence. Critics accused researchers of racism and singling out minorities, especially black men.
  • Studies of people at the far end of a bell curve can be especially informative, because the genetic roots of their conditions can be stark and easy to spot, noted J. H. Pate Skene, a Duke University neurobiologist. “I think doing research on outliers, people at an end of a spectrum on something of concern like violent behavior, is certainly a good idea,” he said, but he advised tempering expectations.
  • “If we know someone has a 2 percent chance or a 10 percent chance or a 20 percent chance of violent behavior, what would you do with that person?” Dr. Skene said. “They have not been convicted of anything — have not done anything wrong.”
  • Ultimately, understanding the genetics of violence might enable researchers to find ways to intervene before a person commits a horrific crime. But that goal would be difficult to achieve, and the pursuit of it risks jeopardizing personal liberties.
Javier E

Genetic testing is changing our understanding of who fathers are - The Washington Post - 0 views

  • What is a father? Close to 40 million at-home DNA tests have been sold, and hundreds of thousands of people, by my estimate based on population research, have gotten the news that the man they thought of as Dad is not their genetic father.
  • In an era of home DNA testing, secrets about paternity no longer stay secret.
  • even when one’s genetic father doesn’t show up in a database, DNA results combined with solid genealogical research can often reveal his identity. Without quite realizing it, we’ve begun a grand experiment in intergenerational reckoning.
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  • The scale of this phenomenon is contributing to the emergence of mental health professionals who specialize in DNA-related discoveries, and strengthening a growing movement advocating everyone’s right to know his or her genetic identity.
  • In the tug between a person’s right to know her genetic origins and her parents’ right to privacy, which should prevail? Mothers may not want to share how their children came into the world.
  • Maybe a child was donor-conceived during an era when experts encouraged parents not to disclose this truth to their children. Or perhaps the circumstances involved coercion or violence
  • The reality of our genes may collide with the narratives we hold dear. We construct stories about who we are and what we value; about our parents’ characters and our spouses’ loyalties. The results of consumer genetic testing can serve as Rorschach tests for our beliefs about family, morality and the past.
Javier E

Ancient DNA Shows Humans Settled Caribbean in 2 Distinct Waves - The New York Times - 0 views

  • Before the advent of Caribbean genetic studies, archaeologists provided most of the clues about the origins of people in the region. The first human residents of the Caribbean appear to have lived mostly as hunter-gatherers, catching game on the islands and fishing at sea while also maintaining small gardens of crops.
  • Archaeologists have discovered a few burials of those ancient people. Starting in the early 2000s, geneticists managed to fish out a few tiny bits of preserved DNA in their bones. Significant advances in recent years have made it possible to pull entire genomes from ancient skeletons.
  • “We went from zero full genomes two years ago to over 200 now,”
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  • The genes of the oldest known residents of the Caribbean link them with the earliest populations that settled in Central and South America.
  • Part of the problem is that scientists have yet to find ancient DNA in the Caribbean that is more than 3,000 years old
  • The other problem is that ancient DNA is still scarce on the Caribbean coast of the mainland.
  • About 2,500 years ago, the archaeological record shows, there was a drastic shift in the cultural life of the Caribbean. People started living in bigger settlements, intensively farming crops like maize and sweet potatoes. Their pottery became more sophisticated and elaborate. For archaeologists, the change indicates the end of what they call the Archaic Age and the start of a Ceramic Age.
  • The skeletons from the Ceramic Age largely shared a new genetic signature. Their DNA links them to small tribes still living today in Colombia and Venezuela.
  • We don’t know a lot about these languages, although some words have managed to survive. Hurricane, for example, comes from hurakán, the Taino name for the god of storms.
  • The people bearing Ceramic Age ancestry came to dominate the Caribbean, with almost no interbreeding between the two groups.
  • These words bear a striking resemblance to words from a family of languages in South America called Arawak. The DNA of the Ceramic Age Caribbeans most closely resembles that of living Arawak speakers.
  • the new DNA findings had surprised him in many ways, giving him a host of new questions to investigate.
  • Over the course of the Ceramic Age, for example, strikingly new pottery styles emerged every few centuries. Researchers have long guessed that those shifts reflect the arrival of new groups of people in the islands. The ancient DNA doesn’t support that idea, though. There’s a genetic continuity through those drastic cultural changes. It appears that the same group of people in the Caribbean went through a series of major social changes that archaeologists have yet to explain.
  • Dr. Reich and his fellow geneticists also discovered family ties that spanned the Caribbean during the Ceramic Age. They found 19 pairs of people on different islands who shared identical segments of DNA — a sign that they were fairly close relatives. In one case, they found long-distance cousins from the Bahamas and Puerto Rico, separated by over 800 miles.
  • “The original idea was that people start in one place, they establish a colony someplace else, and then they just cut all ties to where they came from,” Dr. Keegan said. “But the genetic evidence is suggesting that these ties were maintained over a long period of time.”
  • Rather than being made up of isolated communities, in other words, the Caribbean was a busy, long-distance network that people regularly traveled by dugout canoe. “The water is like a highway,”
  • The genetic variations also allowed Dr. Reich and his colleague to estimate the size of the Caribbean society before European contact. Christopher Columbus’s brother Bartholomew sent letters back to Spain putting the figure in the millions
  • The DNA suggests that was an exaggeration: the genetic variations imply that the total population was as low as the tens of thousands.
  • now, with a population of about 44 million people, the Caribbean may contain more Taino DNA than it did in 1491.
  • Dr. Aviles and his colleagues have uploaded the ancient Caribbean genomes to a genealogical database called GEDMatch. With the help of genealogists, people can compare their own DNA to the ancient genomes. They can see the matching stretches of genetic material that reveal their relatedness.
Ellie McGinnis

The Mammoth Cometh - NYTimes.com - 2 views

  • Brand helped to establish in 1996 to support projects designed to inspire “long-term responsibility.”
  • The theme of the talk was “Is Mass Extinction of Life on Earth Inevitable?”
  • the resurrection of extinct species, like the woolly mammoth, aided by new genomic technologies developed by the Harvard molecular biologist George Church.
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  • Just as the loss of a species decreases the richness of an ecosystem, the addition of new animals could achieve the opposite effect.
  • National Geographic Society hosted a larger conference to debate the scientific and ethical questions raised by the prospect of “de-extinction.
  • “De-extinction went from concept to potential reality right before our eyes,
  • less scientific, if more persuasive, argument was advanced by the ethicist Hank Greely and the law professor Jacob Sherkow, both of Stanford. De-extinction should be pursued, they argued in a paper published in Science, because it would be really
  • “This may be the biggest attraction and possibly the biggest benefit of de-extinction. It would surely be very cool to see a living woolly mammoth.”
  • They will replace chunks of band-tailed-pigeon DNA with synthesized chunks of passenger-pigeon DNA, until the cell’s genome matches their working passenger-pigeon genome.
  • Scientists predict that changes made by human beings to the composition of the atmosphere could kill off a quarter of the planet’s mammal species, a fifth of its reptiles and a sixth of its birds by 2050
  • This cloning method, called somatic cell nuclear transfer, can be used only on species for which we have cellular material.
  • There is a shortcut. The genome of a closely related species will have a high proportion of identical DNA, so it can serve as a blueprint, or “scaffold.”
  • By comparing the fragments of passenger-pigeon DNA with the genomes of similar species, researchers can assemble an approximation of an actual passenger-pigeon genome.
  • As with any translation, there may be errors of grammar, clumsy phrases and perhaps a few missing passages, but the book will be legible. It should, at least, tell a good story.
  • the genome will have to be inscribed into a living cell.
  • “We’ve framed it in terms of conservation,”
  • MAGE (Multiplex Automated Genome Engineering). MAGE is nicknamed the “evolution machine” because it can introduce the equivalent of millions of years of genetic mutations within minutes
  • Developmental and behavioral biologists would take over, just in time to answer some difficult questions. Chicks imitate their parents’ behavior. How do you raise a passenger pigeon without parents of its own species? And how do you train band-tailed pigeons to nurture the strange spawn that emerge from their eggs; chicks that, to them, might seem monstrous: an avian Rosemary’s Baby?
  • For endangered species with tiny populations, scientists would introduce genetic diversity to offset inbreeding.
  • They will try to alter the birds’ diets, migration habits and environment. The behavior of each subsequent generation will more closely resemble that of their genetic cousins.
  • For species threatened by contagion, an effort would be made to fortify their DNA with genes that make them disease-resistant
  • The scientific term for this type of genetic intervention is “facilitated adaptation.”
  • This optimistic, soft-focus fantasy of de-extinction, while thrilling to Ben Novak, is disturbing to many conservation biologists, who consider it a threat to their entire discipline and even to the environmental movement.
  • The first question posed by conservationists addresses the logic of bringing back an animal whose native habitat has disappeared. Why go through all the trouble just to have the animal go extinct all over again?
  • There is also anxiety about disease
  • “If you recreate a species genetically and release it, and that genotype is based on a bird from a 100-year-old environment, you probably will increase risk.”
  • “There’s always this fear that somehow, if we do it, we’re going to accidentally make something horrible, because only nature can really do it right. But nature is totally random. Nature makes monsters. Nature makes threats. Many of the things that are most threatening to us are a product of nature. Revive & Restore is not going to tip the balance in any way.”
  • De-extinction also poses a rhetorical threat to conservation biologists. The specter of extinction has been the conservation movement’s most powerful argument. What if extinction begins to be seen as a temporary inconvenience?
  • De-extinction suggests that we can technofix our way out of environmental issues generally, and that’s very, very bad.
  • How will we decide which species to resurrect?
  • Philip Seddon recently published a 10-point checklist to determine the suitability of any species for revival, taking into account causes of its extinction, possible threats it might face upon resurrection and man’s ability to destroy the species “in the event of unacceptable ecological or socioeconomic impacts.”
  • But the most visceral argument against de-extinction is animal cruelty.
  • “Is it fair to do this to these animals?” Shapiro asked. “Is ‘because we feel guilty’ a good-enough reason?” Stewart Brand made a utilitarian counterargument: “We’re going to go through some suffering, because you try a lot of times, and you get ones that don’t take. On the other hand, if you can bring bucardos back, then how many would get to live that would not have gotten to live?”
  • In “How to Permit Your Mammoth,” published in The Stanford Environmental Law Journal, Norman F. Carlin asks whether revived species should be protected by the Endangered Species Act or regulated as a genetically modified organism.
  • He concludes that revived species, “as products of human ingenuity,” should be eligible for patenting.
  • The term “de-extinction” is misleading. Passenger pigeons will not rise from the grave
  • Our understanding of the passenger pigeon’s behavior derives entirely from historical accounts.
  • There is no authoritative definition of “species.” The most widely accepted definition describes a group of organisms that can procreate with one another and produce fertile offspring, but there are many exceptions.
  • Theseus’ ship, therefore, “became a standing example among the philosophers . . . one side holding that the ship remained the same, and the other contending that it was not the same.”
  • What is coming will go well beyond the resurrection of extinct species. For millenniums, we have customized our environment, our vegetables and our animals, through breeding, fertilization and pollination. Synthetic biology offers far more sophisticated tools. The creation of novel organisms, like new animals, plants and bacteria, will transform human medicine, agriculture, energy production and much else.
grayton downing

Genetic Diversity in the Brain | The Scientist Magazine® - 0 views

  • Genomic analyses of single human neurons—either from postmortem brains or those derived in culture—reveal a considerable degree of DNA copy number variation, according to a paper
  • likely that these genetic differences affect brain cell function, and they may even shape our personalities, academic abilities, and susceptibilities to neurological diseases.
  • There was a really long-standing hypothesis that given the huge diversity of cell types in the brain, there might be [genetic] mechanisms . . . to generate [the] diversity,” Hall explained.
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  • found similar copy number variations in neurons derived in culture from human induced pluripotent stem cells (iPSCs)
  • neural progenitor cells derived from the same iPSC lines did not exhibit such abundant diversity. This suggested that the genetic variation in neurons occurred only at later stages of differentiation. And that the variation developed in a short space of time—the seven weeks it took to differentiate neurons from neural progenitors. Furthermore, the results implied that genetic variations seen in adult postmortem brains were unlikely to be a mere side effect of aging.
Javier E

I Had My DNA Picture Taken, With Varying Results - NYTimes.com - 0 views

  • Scientists have identified about 10 million SNPs within our three billion nucleotides. But an entire genome sequencing — looking at all three billion nucleotides — would cost around $3,000; the tests I took examined fewer than a million SNPs.
  • “Imagine if you took a book and you only looked at the first letter of every other page,” said Dr. Robert Klitzman, a bioethicist and professor of clinical psychiatry at Columbia. (I am a graduate student there in his Master of Bioethics program.) “You’re missing 99.9 percent of the letters that make the genome. The information is going to be limited.”
  • the major issue, experts say, is that the causes of most common diseases remain unknown. Genes account for just 5 to 20 percent of the whole picture.
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  • “Your results are not the least bit surprising,” he told me. “Anything short of sequencing is going to be short on accuracy — and even then, there’s almost no comprehensive data sets to compare to.”
  • “Even if they are accurately looking at 5 percent of the attributable risk, they’ve ignored the vast majority of the other risk factors — the dark matter for genetics — because we as a scientific community haven’t yet identified those risk factors,”
  • There are only 23 diseases that start in adulthood, can be treated, and for which highly predictive tests exist. All are rare, with hereditary breast cancer the most common. “A small percentage of people who get tested will get useful information,” Dr. Klitzman said. “But for most people, the results are not clinically useful, and they may be misleading or confusing.”
  • To be sure, my tests did provide some beneficial information. They all agreed that I lack markers associated with an increased risk of breast cancer and Alzheimer’s. That said, they were testing for only a small fraction of the genetic risks for these diseases, not for rare genetic variants that confer much of the risk. I could still develop those diseases, of course, but I don’t have reason to pursue aggressive screenings as I age.
  • He added: “If you want to spend money wisely to protect your health and you have a few hundred dollars, buy a scale, stand on it, and act accordingly.”
ilanaprincilus06

Bringing genetics into trans identity is a terrifying path | Fury | Opinion | The Guardian - 0 views

  • This study was looking at the relationship between these genes and the possibility that they are a factor in what causes gender dysphoria.
  • By examining a link between genetics and gender dysphoria, this study is investigating a potential biological cause for the existence of transgender people.
  • “This is nothing new. These arguments have happened before with research into the ‘gay gene’ in the late 1980s and early 90s.”
    • ilanaprincilus06
       
      Have we found evidence of a "straight gene"? It is sad that the presumed assumption of everyone being born straight is still an ongoing argument.
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  • “In their study, they found that some of these gene variants were significantly more associated with being trans women, and not just being male. That doesn’t establish causality, and it is just an association. And in fact, its a weak association,”
  • genetic markers are not assumed to be the only factor in what shapes something like gender.
  • When publishing material that supports the idea that there is a biological element to gender identity, scientists, policy makers and the general public are less inclined to listen to trans activists.
  • Trans activists seek to educate people on their fundamental human right to experiment with dress, movement, identity and presentation.
  • “The way that science, technology and science is progressing can be incredibly dangerous in regards to things like eugenics.”
  • Until 2013, trans people in Sweden were required to undergo sterilization before they could access gender-affirming treatment.
  • Given the rising accessibility of gene testing, this sort of research can easily be weaponised as justification for sterilisation, persecution or the abortion of fetuses with these genes.
  • It also further troubles the tenuous relationship that the scientific and medical community have with the trans community.
  • Fostering the notion of a genetic factor to gender dysphoria threatens to further complicate trans people’s access to appropriate care.
  • it takes away their right to self determination and the right to bodily autonomy in regards to gender expression and creativity.”
  • raises questions about the repeated and unchecked power discrepancies between science, medicine and the trans and gender diverse community.
Javier E

How the leading coronavirus vaccines made it to the finish line - The Washington Post - 0 views

  • If, as expected in the next few weeks, regulators give those vaccines the green light, the technology and the precision approach to vaccine design could turn out to be the pandemic’s silver linings: scientific breakthroughs that could begin to change the trajectory of the virus this winter and also pave the way for highly effective vaccines and treatments for other diseases.
  • Vaccine development typically takes years, even decades. The progress of the last 11 months shifts the paradigm for what’s possible, creating a new model for vaccine development and a toolset for a world that will have to fight more never-before-seen viruses in years to come.
  • Long before the pandemic, Graham worked with colleagues there and in academia to create a particularly accurate 3-D version of the spiky proteins that protrude from the surface of coronaviruses — an innovation that was rejected for publication by scientific journals five times because reviewers questioned its relevance.
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  • Messenger RNA is a powerful, if fickle, component of life’s building blocks — a workhorse of the cell that is also truly just a messenger, unstable and prone to degrade.
  • . In 1990,
  • That same year, a team at the University of Wisconsin startled the scientific world with a paper that showed it was possible to inject a snippet of messenger RNA into mice and turn their muscle cells into factories, creating proteins on demand.
  • If custom-designed RNA snippets could be used to turn cells into bespoke protein factories, messenger RNA could become a powerful medical tool. It could encode fragments of virus to teach the immune system to defend against pathogens. It could also create whole proteins that are missing or damaged in people with devastating genetic diseases, such as cystic fibrosis.
  • In 2005, the pair discovered a way to modify RNA, chemically tweaking one of the letters of its code, so it didn’t trigger an inflammatory response. Deborah Fuller, a scientist who works on RNA and DNA vaccines at the University of Washington, said that work deserves a Nobel Prize.
  • messenger RNA posed a bigger challenge than other targets.“It’s tougher — it’s a much bigger molecule, it’s much more unstable,”
  • Unlike fields that were sparked by a single powerful insight, Sahin said that the recent success of messenger RNA vaccines is a story of countless improvements that turned an alluring biological idea into a beneficial technology.
  • “This is a field which benefited from hundreds of inventions,” said Sahin, who noted that when he started BioNTech in 2008, he cautioned investors that the technology would not yield a product for at least a decade. He kept his word: Until the coronavirus sped things along, BioNTech projected the launch of its first commercial project in 2023.
  • “It’s new to you,” Fuller said. “But for basic researchers, it’s been long enough. . . . Even before covid, everyone was talking: RNA, RNA, RNA.”
  • All vaccines are based on the same underlying idea: training the immune system to block a virus. Old-fashioned vaccines do this work by injecting dead or weakened viruses
  • ewer vaccines use distinctive bits of the virus, such as proteins on their surface, to teach the lesson. The latest genetic techniques, like messenger RNA, don’t take as long to develop because those virus bits don’t have to be generated in a lab. Instead, the vaccine delivers a genetic code that instructs cells to build those characteristic proteins themselves.
  • They wanted the immune system to learn to recognize the thumb tack spike, so McLellan tasked a scientist in his laboratory with identifying genetic mutations that could anchor the protein into the right configuration. It was a painstaking process for Nianshuang Wang, who now works at a biotechnology company, Regeneron Pharmaceuticals. After trying hundreds of genetic mutations, he found two that worked. Five journals rejected the finding, questioning its significance, before it was published in 2017.
  • That infection opened Graham’s eyes to an opportunity. HKU1 was merely a nuisance, as opposed to a deadly pneumonia; that meant it would be easier to work with in the lab, since researchers wouldn’t have to don layers of protective gear and work in a pressurized laboratory.
  • Severe acute respiratory syndrome had emerged in 2003. Middle East respiratory syndrome (MERS) broke out in 2012. It seemed clear to Graham and Jason McLellan, a structural biologist now at the University of Texas at Austin, that new coronaviruses were jumping into people on a 10-year-clock and it might be time to brace for the next one.
  • Last winter, when Graham heard rumblings of a new coronavirus in China, he brought the team back together. Once its genome was shared online by Chinese scientists, the laboratories in Texas and Maryland designed a vaccine, utilizing the stabilizing mutations and the knowledge they had gained from years of basic research — a weekend project thanks to the dividends of all that past work.
  • Graham needed a technology that could deliver it into the body — and had already been working with Moderna, using its messenger RNA technology to create a vaccine against a different bat virus, Nipah, as a dress rehearsal for a real pandemic. Moderna and NIH set the Nipah project aside and decided to go forward with a coronavirus vaccine.
  • On Jan. 13, Moderna’s Moore came into work and found her team already busy translating the stabilized spike protein into their platform. The company could start making the vaccine almost right away because of its experience manufacturing experimental cancer vaccines, which involves taking tumor samples and developing personalized vaccines in 45 days.
  • At BioNTech, Sahin said that even in the early design phases of its vaccine candidates, he incorporated the slight genetic changes designed in Graham’s lab that would make the spike look more like the real thing. At least two other companies would incorporate that same spike.
  • If all goes well with regulators, the coronavirus vaccines have the makings of a pharmaceutical industry fairy tale. The world faced an unparalleled threat, and companies leaped into the fight. Pfizer plowed $2 billion into the effort. Massive infusions of government cash helped remove the financial risks for Moderna.
  • But the world will also owe their existence to many scientists outside those companies, in government and academia who pursued ideas they thought were important even when the world doubted them
  • Some of those scientists will receive remuneration, since their inventions are licensed and integrated into the products that could save the world.
  • As executives become billionaires, many scientists think it is fair to earn money from their inventions that can help them do more important work. But McLellan’s laboratory at the University of Texas is proud to have licensed an even more potent version of their spike protein, royalty-free, to be incorporated into a vaccine for low and middle income countries.
  • “They’re using the technology that [Kariko] and I developed,” he said. “We feel like it’s our vaccine, and we are incredibly excited — at how well it’s going, and how it’s going to be used to get rid of this pandemic.”
  • “People hear about [vaccine progress] and think someone just thought about it that night. The amount of work — it’s really a beautiful story of fundamental basic research,” Fauci said. “It was chancy, in the sense that [the vaccine technology] was new. We were aware there would be pushback. The proof in the pudding is a spectacular success.”
  • The Vaccine Research Center, where Graham is deputy director, was the brainchild of Anthony S. Fauci, director of the National Institute of Allergy and Infectious Diseases. It was created in 1997 to bring together scientists and physicians from different disciplines to defeat diseases, with a heavy focus on HIV.
  • the pandemic wasn’t a sudden eureka moment — it was a catalyst that helped ignite lines of research that had been moving forward for years, far outside the spotlight of a global crisis.
Emily Horwitz

Studying Recent Human Evolution at the Genetic Level - NYTimes.com - 1 views

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    This article provided some interesting insight on how/why different races look the way they do. On one hand, genetic mutations are propagated because of distinct advantages; on the other hand, the more "attractive" traits are propagated, no necessarily because they make people survive longer, but because they increase the rate of mating. Like we discussed in the human sciences, the process of human evolution has multiple causation.
oliviaodon

Why Are Some People So Smart? The Answer Could Spawn a Generation of Superbabies | WIRED - 0 views

  • use those machines to examine the genetic underpinnings of genius like his own. He wants nothing less than to crack the code for intelligence by studying the genomes of thousands of prodigies, not just from China but around the world.
  • fully expect they will succeed in identifying a genetic basis for IQ. They also expect that within a decade their research will be used to screen embryos during in vitro fertilization, boosting the IQ of unborn children by up to 20 points. In theory, that’s the difference between a kid who struggles through high school and one who sails into college.
  • studies make it clear that IQ is strongly correlated with the ability to solve all sorts of abstract problems, whether they involve language, math, or visual patterns. The frightening upshot is that IQ remains by far the most powerful predictor of the life outcomes that people care most about in the modern world. Tell me your IQ and I can make a decently accurate prediction of your occupational attainment, how many kids you’ll have, your chances of being arrested for a crime, even how long you’ll live.
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  • Dozens of popular books by nonexperts have filled the void, many claiming that IQ—which after more than a century remains the dominant metric for intelligence—predicts nothing important or that intelligence is simply too complex and subtle to be measured.
  • evidence points toward a strong genetic component in IQ. Based on studies of twins, siblings, and adoption, contemporary estimates put the heritability of IQ at 50 to 80 percent
  • intelligence has a genetic recipe
  • “Do you know any Perl?” Li asked him. Perl is a programming language often used to analyze genomic data. Zhao admitted he did not; in fact, he had no programming skills at all. Li handed him a massive textbook, Programming Perl. There were only two weeks left in the camp, so this would get rid of the kid for good. A few days later, Zhao returned. “I finished it,” he said. “The problems are kind of boring. Do you have anything harder?” Perl is a famously complicated language that takes university students a full year to learn.
  • So Li gave him a large DNA data set and a complicated statistical problem. That should do it. But Zhao returned later that day. “Finished.” Not only was it finished—and correct—but Zhao had even built a slick interface on top of the data.
  • driven by a fascination with kids who are born smart; he wants to know what makes them—and by extension, himself—the way they are.
  •  
    This is a really interesting article about using science to improve intelligence.
Javier E

Psychiatry's New Guide Falls Short, Experts Say - NYTimes.com - 1 views

  • his goal was to reshape the direction of psychiatric research to focus on biology, genetics and neuroscience so that scientists can define disorders by their causes, rather than their symptoms.
  • While the Diagnostic and Statistical Manual of Mental Disorders, or D.S.M., is the best tool now available for clinicians treating patients and should not be tossed out, he said, it does not reflect the complexity of many disorders, and its way of categorizing mental illnesses should not guide research.
  • senior figures in psychiatry who have challenged not only decisions about specific diagnoses but the scientific basis of the entire enterprise. Basic research into the biology of mental disorders and treatment has stalled, they say, confounded by the labyrinth of the brain.
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  • The creators of the D.S.M. in the 1960s and ’70s “were real heroes at the time,” said Dr. Steven E. Hyman, a psychiatrist and neuroscientist at the Broad Institute and a former director at the National Institute of Mental Health. “They chose a model in which all psychiatric illnesses were represented as categories discontinuous with ‘normal.’ But this is totally wrong in a way they couldn’t have imagined. So in fact what they produced was an absolute scientific nightmare. Many people who get one diagnosis get five diagnoses, but they don’t have five diseases — they have one underlying condition.”
  • Decades of spending on neuroscience have taught scientists mostly what they do not know, undermining some of their most elemental assumptions. Genetic glitches that appear to increase the risk of schizophrenia in one person may predispose others to autism-like symptoms, or bipolar disorder. The mechanisms of the field’s most commonly used drugs — antidepressants like Prozac, and antipsychosis medications like Zyprexa — have revealed nothing about the causes of those disorders. And major drugmakers have scaled back psychiatric drug development, having virtually no new biological “targets” to shoot for.
  • Dr. Insel is one of a growing number of scientists who think that the field needs an entirely new paradigm for understanding mental disorders, though neither he nor anyone else knows exactly what it will look like.
  • Dr. Hyman, Dr. Insel and other experts said they hoped that the science of psychiatry would follow the direction of cancer research, which is moving from classifying tumors by where they occur in the body to characterizing them by their genetic and molecular signatures.
  • Dr. Insel said in the interview that his motivation was not to disparage the D.S.M. as a clinical tool, but to encourage researchers and especially outside reviewers who screen proposals for financing from his agency to disregard its categories and investigate the biological underpinnings of disorders instead.
Javier E

How Much Do Our Genes Influence Our Political Beliefs? - NYTimes.com - 1 views

  • Why do so many poor, working-class and lower-middle-class whites — many of them dependent for survival on government programs — vote for Republicans?
  • three psychologists write that “authoritarianism, religiousness and conservatism,” which they call the “traditional moral values triad,” are “substantially influenced by genetic factors.”
  • all three traits are reflections of “a single, underlying tendency,” previously described in one word by Bouchard in a 2006 paper as “traditionalism.” Traditionalists in this sense are defined as “having strict moral standards and child-rearing practices, valuing conventional propriety and reputation, opposing rebelliousness and selfish disregard of others, and valuing religious institutions and practices.”
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  • based on the correlations presented here, knowing the scores of one identical twin gives you a pretty good indication of the scores of the other.”
  • the Democratic Party — supportive of abortion rights, same-sex marriage and the primacy of self-expressive individualism over obligation to family — is irreconcilably alien to a segment of the electorate.
  • If these predispositions are, as Friesen and Ksiazkiewicz argue, to some degree genetically rooted, they may not lend themselves to rational debate and compromise.
  • concluded from their study comparing identical and fraternal twins that “the correlation between religious importance and conservatism” is “driven primarily, but usually not exclusively, by genetic factors.” The substantial “genetic component in these relationships suggests that there may be a common underlying predisposition that leads individuals to adopt conservative bedrock social principles and political ideologies while simultaneously feeling the need for religious experiences.”
  • the outcome of the 19 presidential elections since 1940: Nine Republican victories; 10 for Democrats. In those races, the winner received less than 53 percent of the vote in 10 elections. This equilibrium suggests that political opinion may be less volatile, and more firmly grounded, than is sometimes suspected.
  • “To the extent that my political opinions can be predicted by my genome, or by an identical twin separated from me at birth who grew up halfway across the world,” Pinker writes, “I have reason to question whether those opinions are justifiable by reason or evidence rather than a reflection of my temperament.”
  • “the discovery that political ideologies are partly heritable points our attention to what the common psychological threads of competing ideologies are – namely temperamental differences such as authoritarianism, conscientiousness, and openness to experience, together with intellectual differences such as intelligence. These could help pinpoint some of the common denominators beneath competing ideologies which cut across the particular hot buttons of the particular era.”
  • such research can enhance our understanding of the larger framework within which public discourse and debate shape key outcomes.
  • We need every tool available to increase our understanding of our systems of self-governance and of how we came to be the political animals that we are.
cvanderloo

Your genetics influence how resilient you are to cold temperatures - new research - 1 views

  • Some people just aren’t bothered by the cold, no matter how low the temperature dips. And the reason for this may be in a person’s genes. Our new research shows that a common genetic variant in the skeletal muscle gene, ACTN3, makes people more resilient to cold temperatures.
  • Our recent study, conducted alongside researchers from Lithuania, Sweden and Australia, suggests that if you’re alpha-actinin-3 deficient, then your body can maintain a higher core temperature
  • While only 30% of participants with the alpha-actinin-3 protein reached the full 120 minutes of cold exposure, 69% of those that were alpha-actinin-3 deficient completed the full cold-water exposure time.
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  • Our previous work has shown that ACTN3 variants play an important role in our muscle’s ability to generate strength. We showed that the loss of alpha-actinin-3 is detrimental to sprint performance in athletes and the general population, but may benefit muscle endurance.
  • This is because the loss of alpha-actinin-3 causes the muscle to behave more like a slower muscle fibre.
  • Our study shows that ACTN3 is more than just the “gene for speed”, but that its loss improves our muscle’s ability to generate heat and reduces the need to shiver when exposed to cold.
  • The goal of our research is to improve our understanding of how our genetics influence how our muscle works. This will allow us to develop better treatments for those who suffer from muscle diseases, like Duchenne muscular dystrophy, as well as more common conditions, such as obesity and type 2 diabetes.
Zack Lessner

Genetic Knowledge Helps Tailer Treatment - 0 views

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    Interesting article about how genetics are being used as science advances
dicindioha

These Foods Aren't Genetically Modified but They Are 'Edited' - The New York Times - 1 views

  •  
    this is very interesting at the beginning because people may not know that their food was altered in a way, even though they are saying this just cuts short certain aspects of the genes in order to change them, instead of cross breeding or something like that. it seems not all knowledge that is shared is shared to all, and it can depend on status, or even just job here. they regulate gene expression, but that is still an alteration made by humans. this begs the question of if this is a somewhat natural thing or is it still under the category of GMOs? Genetics are an interesting area of science in regards to human editing them, one that is very controversial, and this article presents gene editing as seemingly okay, but it would be interesting to hear another side.
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    I apologize, for some reason my highlights did not come up on this article, and only two on the article about climate change and the incoming trump government that I did right before this. Sorry I'm not sure how to fix that -Hailey
Javier E

How Languages and Genes Evolve Together - The Atlantic - 0 views

  • As human populations disperse, the separation leads to changes both in genes and in language. So if we look at human DNA and languages over time, we should find that they differ along similar geographic lines.
  • researchers decided to match large collections of geographic, linguistic, and genetic data on hundreds of human populations worldwide.
  • A new study, published in Proceedings of the National Academy of Sciences, quantifies the complicated relationship between these three factors. Researchers compared the geographic presence of two things in human populations across the world: alleles (trait-defining stretches of DNA) and phonemes (the distinct units of sound that make up spoken language).
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  • in most parts of the world, languages and genes occupy the same areas and even appear to have traveled along similar trajectories.
  • These data have been available for some time, but never examined in the same place. “The thing we’ve done that no one else has is match worldwide genetic populations to their languages, so that you’re looking at a comparable set,”
  • Another finding is related to isolation: When small populations separate from the gene pool, genetic diversity falls. In language, the opposite is true. The study shows that isolation leads to more diversity in phonemes.
Javier E

Living Another Day, Thanks to Grandparents Who Couldn't Sleep - The New York Times - 1 views

  • A new study, published Tuesday in Proceedings of the Royal Society B, suggests that the way sleep patterns change with age may be an evolutionary adaptation that helped our ancestors survive the night by ensuring one person in a community was awake at all times. The researchers called this phenomenon the “poorly sleeping grandparent hypothesis,” suggesting that an older member of a community who woke before dawn might have been crucial to spotting the threat of a hungry predator while younger people were still asleep. It may explain why people slept in mixed-age groups through much of human history.
  • The Hadza sleeping environment may have similarities to that of earlier humans, researchers said. They sleep outdoors or in grass huts in groups of 20 to 30 people without artificially regulating temperature or light. These conditions provide a suitable window to study the evolutionary aspects of sleep.
  • more than 220 total hours of sleep observation, researchers found only 18 minutes when all adults were sound asleep simultaneously. Typically, older participants in their 50s and 60s went to bed earlier and woke up earlier than those in their 20s and 30s. On average, more than a third of the group was alert, or lightly dozing, at any given time.
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  • “We have a propensity to overcategorize things as disorders in the West,” said David Samson, an author of the study and an assistant professor of anthropology at the University of Toronto. “It might help elderly individuals to know changes they’re experiencing have an evolutionary reason.”
  • “The variation may be partially explained by genetics,” she said, “but there are environmental conditions too.” As people age, their social needs and level of activity change, potentially affecting their sleep patterns.
  • there is evidence of a genetic link, she added, pointing out that sleep quality declined among the older Hadza even while they remained active hunters and gatherers.
Javier E

Synthetic Thinking | Jerome Groopman | The New York Review of Books - 0 views

  • Did you hope to combine chemistry and political philosophy in some way in your medical career?
  • Chemistry requires synthetic thinking. You have to bring disparate pieces of knowledge together in order to look for a chemical structure. Political philosophy, to some degree, also involves disparate aspects of knowledge: economics, sociology, history, pure philosophy
  • I found that in medicine, you don’t have an answer when you start out. You’re looking for clues that are often distributed in different places: family history, as there might be a genetic predisposition; social history, because the person smoked or was exposed to a toxin; the physical examination, where you find that an organ might be disordered. Add to that the blood test, the CAT scan, all of it, but most importantly, the person, the psychology of the person you’re dealing with. It’s the same kind of synthetic process as political philosophy, but in a different dimension.
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  • Writing, especially the kind of writing that I do, brings together narrative, science, sometimes history, and an appreciation for the person who might be at the center of the narrative.
  • The greatest influence on me was Oliver Sacks, because he could capture people as people, and he always integrated serious science into his pieces.
  • The two subjects that were most prominent for him, as I once wrote for you, were identity and adaptation: Who is this person, despite their illness? How does that illness interface with their behavior and their decisions, how do people perceive them from the outside, and how do they try to find meaning and adapt to what looks like a disability, but sometimes—not always, but sometimes—gives them hidden strength?
  • I’ve gone from witnessing the depths of disability and death, like with AIDS: I saw some of the first people with AIDS in California, in 1982 or so. The average lifespan was six months. They were mostly young gay men, and it was devastating, the infections they got, the cancers they got. Now, with all the new drugs that have been developed, someone who gets HIV is projected to have a normal lifespan. From six months to fifty years: it’s miraculous
  • that’s part of what keeps you going: the belief that things can advance in a meaningful way.
  • Are there any major or interesting medical stories that the public doesn’t know enough about? 
  • The idea of genetic treatments. Often when people hear the words “genetics” or “DNA” or “RNA,” they shut down. The challenge is how to make it accessible.
  • There’s a wonderful line in the Talmud that says, “Whoever saves a single life saves the whole world.” There might be only a few hundred people in the whole country who have a particular genetic disorder. I
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