Category Archives: Human Genetics

By Layal Liverpool

A rising global population has led to a resurgence of eugenics-based ideas

Ben Edwards/Getty Images

Control: The dark history and troubling present of eugenics

Adam Rutherford

Weidenfeld & Nicolson

WHAT does the word eugenics bring to mind? For many, it is Nazi Germany and the atrocities that were committed in its name, not least the murder and involuntary sterilisation of people that they deemed unworthy of reproducing. But eugenics didnt begin or end with the Nazis. In fact, writes geneticist Adam Rutherford in his new book Control, the idea persisted and persists.

Eugenics didnt begin with Francis Galton either, even though he coined the term in the 1800s and was responsible for spreading the idea around the world. More than 30 countries, including Germany and the US, had formal eugenics policies in the 20th century, with awful consequences.

In fact, as Rutherford points out, notions of eugenics and population control date back much further in human society to the 4th century BC, when the Ancient Greek philosopher Plato outlined in books V and VI of Republic a detailed plan to control the reproduction of the people in a utopian city-state. Children born with defects would be hidden away, which may well have been a euphemism for killed, writes Rutherford. Platos plan was never enacted, he adds, but infanticide has been a constant feature in human societies throughout history and around the world.

Eugenics became a dirty word after the horrors of the 20th century, yet some of its ideas survived in science and medicine, says Rutherford. Eugenics formed the basis for the modern field of human genetics, with many eugenicists rebranding themselves as geneticists after the second world war, he argues.

Some of the language and phrases of the 20th-century eugenics movement remain in general use today, although their meanings have evolved. Todays casual insults such as imbecile, moron or idiot carried specific psychiatric significance a century ago, and could warrant enforced institutionalisation and, in hundreds of thousands of cases, involuntary sterilisation, writes Rutherford.

Unfortunately, the drive to restrict reproduction to those deemed by some to be the most suitable still exists. In 2020, there were reports that up to 20 women were involuntarily sterilised in Immigration and Customs Enforcement detention centres in the US. And in Canada, a class action lawsuit in response to the coerced sterilisation of hundreds of Indigenous women as recently as 2018 is ongoing. Meanwhile, sex-selective abortion practices continue to skew sex-ratios in India and China, the most populous countries in the world.

Embedded in all of these practices are dangerous notions of inferiority and superiority that are unscientific and laced with prejudice, says Rutherford. And, as the world reckons with climate change, discussions around the idea of population control are increasingly resurfacing.

There is still a question mark over whether eugenics would even work, even if it werent morally offensive

Control s strength is that it provides not only much-needed guidance for these conversations by reminding us of the horrors of the past, but also uses scientific evidence to dismantle the viability of these ideas.

Rutherford makes it clear that there is still a question mark over whether eugenics would even work, which neatly demonstrates how limited our understanding of human genetics actually is and how ill-equipped we are to direct our species evolution, even if it werent morally offensive.

The 2018 births in China of Lulu and Nana, the first gene-edited humans, provide one example. He Jiankui used CRISPR/Cas9 gene-editing technology on two fertilised human embryos in an attempt to introduce a naturally occurring genetic mutation associated with resistance to HIV infection. But, as Rutherford describes, the intended gene editing failed. In the embryo that became Lulu, 15 letters of DNA were deleted, while in the one that became Nana some DNA was added and other parts deleted.

Control ultimately exposes eugenics as a pseudoscience that cannot deliver on its promise and encourages us to instead focus on interventions that we know can improve peoples lives and the state of our planet, such as improved education, healthcare, equality of opportunities and protection of the environment.

More on these topics:

Read more:
Control review: The troubling past, present and future of eugenics - New Scientist

JEDDAH: The King Abdulaziz and His Companions Foundation for Giftedness and Creativity (Mawhiba) and the Arab League Educational, Cultural and Scientific Organization (ALECSO) on Saturday announced the results of the first edition of the Gifted Arabs initiative, which aims to promote innovation by developing Arab talent.

The announcement was made at a press conference, held at the Hilton hotel in Jeddah. It was attended by Mawhiba Secretary-General Dr. Saud bin Saeed Al-Mathami, ALECSO Director-General Prof. Mohamed Ould Amar and Hani bin Moqbel Al-Moqbel, chairman of the executive council at ALECSO.

In a speech, Al-Mathami expressed his gratitude to Saudi Culture Minister Prince Badr bin Abdullah bin Farhan, also chairman of the Saudi National Committee for Education, Culture, and Science, for supporting the initiative through various national, regional, and international educational, cultural and scientific organizations, which resulted in refining the talents of youth in the Arab world.

He added that young talented people will contribute to achieving 2030 sustainable development goals, which will enhance the Arab regions position in the world.

HIGHLIGHT

Mawhiba Secretary-General Dr. Saud bin Saeed Al-Mathami said that 230 Arab students scored the highest marks in the 2021 Gifted Arabs initiative. Of that number, 57 students were from Saudi Arabia, two from the UAE, 34 from Bahrain, eight from Qatar, 30 from Oman, 12 from Palestine, 20 from Jordan, 15 from Iraq, two from Yemen, 15 from Tunisia, nine from Mauritania and 26 from Libya.

Al-Mathami thanked the executive council of ALECSO, its member states and the ministers of education of the participating countries for their support of the initiative and their keenness on its success, which succeeded in serving Arab citizens.

He said that 230 Arab students scored the highest marks in the 2021 Gifted Arabs initiative, representing 12 countries.

Of that number, 57 students were from Saudi Arabia, two from the UAE, 34 from Bahrain, eight from Qatar, 30 from Oman, 12 from Palestine, 20 from Jordan, 15 from Iraq, two from Yemen, 15 from Tunisia, nine from Mauritania and 26 from Libya.

Al-Mathami said that these gifted students were divided into three categories: Exceptional talents, talented students and promising ones.

He added that Mawhiba will provide a package of programs to develop the capabilities of the qualified Arab talents.

Mawhiba will also provide the exceptional talents with several in-person and remote care programs, including an excellence program for enrollment in prestigious universities, he said, adding that this support will also include offering counseling, guidance and leadership programs, along with the Mawhiba Universal Enrichment and Mawhiba Academic Enrichment Programs, which cover scientific studies and skills of the 21st century.

And for students in the promising talent category, Al-Mathami said that they will be enrolled in the Mawhiba Academic Enrichment Program remotely.

Speaking to Arab News, Al-Mathami said that Mawhiba strongly believes in the role that school teachers can play in developing talented students.

He added: School teachers are our main partners. Mawhiba has so far trained more than 200,000 teachers systemically. These teachers have helped in training their colleague teachers in their schools.

Al-Mathami said that most of the talented students Mawhiba has discovered were a result of this fruitful partnership.

All our teachers should further learn how to discover talented students in classrooms so that we dont lose a talent that should have been spotted and nurtured, he said.

It is noteworthy that the Mawhiba secretary-general attended the meeting of the 116th session of the ALECSOs executive council, held in the city of AlUla, during which he announced that the next session of the initiative would take place in February with the participation of all member states.

Meanwhile, Al-Mathami revealed that Mawhiba is collaborating with the Saudi Ministry of Culture to launch a national project that focuses on discovering creative people in the Kingdom.

For his part, the ALECSO director-general extended his appreciation to Saudi Arabia for its interest, support and sponsorship of the initiative, and praised member states for their participation.

Amar said that the discovery of Arab talents and development of their capabilities reflects interest in the scientific, social and cultural challenges posed by the 21st century.

He added that it was is an essential component in shaping Arab identity to ensure a better future for younger generations in light of global trends to achieve sustainable development.

Amar said that ALECSO is keen to cooperate with Mawhiba to promote talent and creativity in the Arab world.

He said that the initiative represents a qualitative partnership to promote talented people in building knowledge, supporting sustainable development in the Arab world and encouraging a culture of innovation.

Mawhiba provides enrichment programs in more than 20 scientific tracks, including mechanical engineering, aviation, robots, electrical engineering, outer space and more.

Its students have won 456 international awards and 83 awards at the International Science and Engineering Fair, of which 53 were medals and certificates of appreciation awarded in 2021.

Read more from the original source:
Who's Who: Malak Abed Althagafi, a senior researcher in the Saudi Human Genome Program - Arab News

Just as we thought Omicron was rolling across the US and into oblivion, a new subvariant has arrived and is, again, taking over. At the same time Moderna is announcing dosing of the first participant in its phase 2 study of an Omicron-specific booster. But Omicrons evolution wasnt unexpected the World Health Organizations recent update cites four lineages of Omicron, dubbed BA.1 through BA.4.

So it goes, to quote Kurt Vonnegut in Slaughterhouse Five. But that statement was in response to death among the Tralfamadorians not the robust activity of a tiny virus.

It seems to me that the continual categorization of SARS-CoV-2 reflects the human urge to group, categorize, and name things to help us understand them. I think the situation is eventually going to dissolve into a continuum of genetic flux as the tango of mutation and selection continues. Thats what nucleic acids do.

Since it still new days for Omicron 2.0, heres a snapshot:

WHAT WE KNOW

BA.2 (newbie Omicron) is all over the world. It is most prevalent, and increasing, in southern and southeast Asia, as BA.1 (original Omicron) diminishes. In many other countries theyre already running neck-and-neck.

BA.2 is here in the USA. This time the president didnt try to stop it by restricting visitation.

The subvariant showed up in November, first in southern Africa. It follows where theres been an (original) Omicron spike.

BA.2 has been dubbed stealth Omicron because it doesnt have a single-base deletion mutation that made BA.1 difficult to detect (the S-gene dropout phenomenon that prompted FDA to quickly retool some PCR tests and fashion a faster Omicron one in December 2021.)

The Venn diagram: BA.1 and BA.2, share 20 mutations in the spike gene, and both share a pair with Delta. Four of the mutations change the hotspot the receptor binding domain, or RBD that antibody treatments target.

We have a bunch of genome sequences of BA.2, but not much more. You can track them and the country-by-country distribution here.

WHAT WE DONT KNOW

The impact of BA.2 on case counts, hospitalizations, and deaths.

Whether BA.2 is more transmissible than BA.2.

If having BA.1 protects against BA.2. When the newbie elicits its own antibody repertoire and T cell profile, it may earn its own Greek letter, countering my idea to just give up on names.

BA.2s origins. Did BA.1 beget BA.2, or did the 20 shared mutations arise by chance? Did the Omicron siblings diverge from a shared ancestor, like humans and chimps? Did BA.2 arise in southern Africa and in parallel in southeast Asia, or jump from one to the other? (Comparing genome sequences will yield answers soon.)

The COVIDization of Scientific Publishing

The pandemic has had a profound effect on the ability of scientists and medical researchers to crank out articles, not to mention we science journalists. This is my 88th COVID article Ive all but abandoned my regular rare genetic disease beat.

And so I was curious to notice a preprint at MedRxiv, Massive covidization of research citations and the citation elite. First author is John Ioannidis of Stanford, a controversial figure from his initial downplaying of COVID (in 2020 he predicted 10,000 total deaths) yet he was also the first to question the validity of Theranos all-in-one bogus blood test.

Ioannidis specializes in studying research, and COVID is an enticing topic. The new study consulted publisher Elseviers Scopus database of many thousands of citations of research papers, published through August 1, 2021. Findings were intriguing.

COVID-19 was the focus of 4% of all papers published and 20% of citations to papers published in 2020-2021.

The share rises when parsing the journals by topic, accounting for >30% of citations for science journals and 79.3% for General and Internal Medicine.

Considering only science, 98 of the 100 most-cited papers published in 2020-2021 were related to COVID-19. 110 scientists received >=10,000 citations for COVID-19 work, but none received >=10,000 citations for non-COVID-19 work published in 2020-2021.

For many scientists, citations to their COVID-19 work already accounted for more than half of their total career citation count.

The paper concludes, Overall, these data show a strong covidization of research citations across science with major impact on shaping the citation elite. I think the quest to understand an emerging and ongoing pandemic is somewhat more than a spitting contest among researchers eager to see their names on papers, but you never know.

Covering COVID in My Textbook

Im presently revising my human genetics textbook with McGraw-Hill for the fourteenth edition. How much COVID to include? It nestles neatly into coverage of mRNA, immunology, vaccines, cell biology, population genetics, and evolution.

The publication date is September 2023. Where will we be by then? Back to some semblance of normalcy? Still masking? Likely something in between.

Looking ahead, I cant help but wonder when well begin to see inklings of the natural selection that will act against those who refuse COVID vaccines. For they continue to perish at staggeringly higher rates than the vaxxed yet inexplicably seem oblivious to this most obvious, stat-backed fact.

Greater knowledge of biological principles could have saved lives.

Read more here:
Omicron Evolves and the Covidization of Scientific Publishing - DNA Science - PLoS Blogs

The Genetic Lottery: Why DNA Matters for Social Equality

Kathryn Paige Harden. 2021. Princeton University Press, Princeton and Oxford. 312 pages.

At the top of a hill sits a ball. When released, where will it roll? Off to the right, or into a valley to the left? Over the hump and down the middle? What commits it to one path or another? Perhaps the slope is a bit steeper on one side. Maybe hidden influences from below push and pull the contours of a surface that is more fluid than solid. And what if the ball isnt perfectly round?

Is the final outcome just chance, unpredictable, a different result for every roll?

The ball on a hill is a figurative way of describing ones life course. Think of the course of your own life: How have you rolled? What path have you followed? Maybe it was a smooth ride, carefree. But likely not. Consider your education: The fact that youre able to read this right now indicates that youve had many successes on your roll down the hill; the seemingly simple ability to read (literacy as well as numeracy) imparts a certain slant to ones life, a bias where one success leads to another. How much did random events chart your course, and how much were various outcomes in your life completely beyond your control? Can we say we deserve to be where we are?

Success or failure in negotiating the hills and valleysthe gateways, so to speakof education alone can change everything. How easy, or tragic, it might have been to travel a different course. Where might you have ended up? Who would you be? If our identities are built up around a certain set of attainments, would you still be you if circumstances had played out differently?

To the extent that we enjoy good things in lifeeducational success, good incomes, stable jobs, good physical health, happiness and subjective well-beingit is, in large part, because we have been massively lucky.

Maybe some of us have the bootstrap gene and some do not. Achievers often attribute their success to that ability to overcome challenges through hard work and determination: I pulled myself up by the bootstraps. If others worked like I did, they would have success too. But is self-will all there is to it? While its highly unlikely that we will ever find individual genes that turn something as complex as self-will on or off, we are learning more about the genetic influences that impact each of us in unique ways.

The debate over how much nature, nurture and simple chance influence success is longstanding. Might genesour naturebe so powerful that our life course is determined practically from conception? Some have the essential it, and some do not? Or, on the other hand, are we so genetically similar that it must be nurturewhat we experience, our social situationthat creates different outcomes? Since our parents provide both our social and genetic inheritance, teasing out a conclusion is daunting.

Ideas of a level playing field, equal access or privilege may come to mind. If one could ask 19th-century scientist Francis Galton, known as the father of eugenics (the theory that purported to explain the hierarchy of racial success), he would answer that life outcomes are predetermined by heredity.

Galton insisted, to use our ball-and-hill analogy, that some of usputting it bluntly, the nonwhite among uswere simply doomed from the beginning to roll off course. Best to help the haves rather than the have-nots, he said. The stream of charity is not unlimited, and it is requisite for the speedier evolution of a more perfect humanity that it should be so distributed as to favour the best-adapted races.

Because there simply was not enough support available for all (nor should there be, in his opinion), the less successful nonwhite races would fade away in time due to intrinsic inferiority. This was just the nature of evolution, as described by his cousin Charles Darwin in On the Origin of Species (1859). I have not spoken of the repression of the rest, Galton continued, believing that it would ensue indirectly as a matter of course; but I may add that few would deserve better of their country than those who determine to live celibate lives, through a reasonable conviction that their issue would probably be less fitted than the generality to play their part as citizens (Inquiries Into Human Faculty and Its Development).

Thats a frightening proposition and, most would agree, no longer to be taken seriously. Yet for anyone who looks at the human condition and hopes for a better future for both individuals and society overall, inequality and the needs of the less successful among us remain urgent problems.

Can genetics help us understand how to help those who arent achieving their full potential?

As geneticist Theodosius Dobzhansky remarked decades ago, every talent is crucial as society presses forward: Even those who are convinced that their substance is finer than the common clay can no longer demand that the growth of others be stunted so that they themselves may blossom. To say that equality of opportunity is a necessary condition for human self-realization and self-fulfillment is not to solve problems, it is merely to state them.

As implied by US president Bill Clinton in announcing the results of the Human Genome Project in 2000 (called the first draft of the sequence of all 3 billion base pairs of our genome), at that time genes didnt seem to account for our differences.

Increasing knowledge of the human genome must never change the basic belief on which our ethics, our government, our society are founded, Clinton said. All of us are created equal. ... I believe one of the great truths to emerge from this triumphant expedition inside the human genome is that in genetic terms, all human beings, regardless of race, are more than 99.9 percent the same.

According to behavioral geneticist Kathryn Paige Harden, however, equality by genome was a wrong conclusion: Tying genetic sameness to egalitarian ideals was, I believe, one of Clintons mistakes. The egalitarian ideal says that all of us are equal and must be afforded opportunity without prejudice; but if we seek the best outcomes for all people, then the influence of those small differences is important.

Race is not a valid biological category. But to hold that there are no genetic differences between groups of people who identify as different races is simply incorrect.

In The Genetic Lottery: Why DNA Matters for Social Equality, Harden explains that discounting that 0.1 percent can actually hobble progress toward egalitarian goals. It may seem a small number, yet it translates to at least 3 million base differences between any two of us. Genetic differences between us matter for our lives, she writes. They cause differences in things we care about.

Some of those things are diseases. In the wrong place, even a one-letter change can have disastrous effects: Sickle cell anemia is caused by a one-letter change in the hemoglobin gene on chromosome 11. A mutation on chromosome 12 can cause PKU, a problem with amino acid digestion leading to the slow degradation of a childs brain. Tay-Sachs, another destroyer of brain tissue, stems from a change found in chromosome 15. Repeating letters on chromosome 4 cause Huntingtons, a fatal neurological disorder.

These are horrible diseases with devastating and oversize outcomes. They represent Game Over holes in the path of life. No one would say that a person deserves to inherit them, or that the parents should have known better. They result from hidden factors that influence the roll of the ball of ones life.

But Harden wants us to understand how research into these small genetic differences is revealing more subtle links between blind inheritance and what we achieve. Like a specific 6-ball combination in [the American lottery game] Powerball, she explains, the fact that you have your specific DNA sequence, out of all the possible DNA sequences that could have resulted from the union of your father and your mother, is pure luck.

It is these sorts of hidden truths, and their consequences, that The Genetic Lottery reveals so well. The critical nature of these heretofore mostly unknowns (at least unknown to those of us who arent behavioral geneticists) should give us pausepause to consider both our own history and how we look on others. For this alone, Harden has done a great service.

She notes further, It is a grave mistake to stake claims for equity, or inclusion, or justice ... on the absence of genetic differences, because we are genetically different. But these are not differences in quality; they dont make us superior or inferior people. What I am aiming to do in this book, Harden explains, is re-envision the relationship between genetic science and equality. ... Can we imagine a new synthesis? And can this new synthesis broaden our understanding of what equality looks like and how to achieve it?

Harden is a professor of psychology at the University of TexasAustin. She doesnt research genetic disease per se, but the possible genetic links to educational outcomes. My scientific research uses twin studies and big genetic datasets to understand why peoples lives turn out differently, she notes in her profile. Genetic data dont just tell us about our biology; they are also a tool for understanding how our environments affect us.

And this is the big takeaway from The Genetic Lottery: genetically influenced tendencies can be liabilities or gifts; the outcomes are determined by what is valued and what is not. Just as organisms thrive or shrivel depending on the conditions of an ecosystem, its the social ecosystem weve created that allows some to pass and pushes others to fail. Thus, for instance, in an educational arena that currently rewards quieter personalities that can also do math, children who have difficulty simply sitting still and find algebra unintelligible are at a huge deficit; they wont go far.

Still the most popular TED Talk ever, Ken Robinsons Do Schools Kill Creativity? is spot on in highlighting this reality.

Many highly talented, brilliant, creative people think theyre not, because the thing they were good at at school wasnt valued, or was actually stigmatized.

Combining this with Hardens work and with Fredrik deBoers The Cult of Smart (2020) is an eye-opener. Although we may give lip service to the idea that every child matters, and that every talent is important, our actual on-the-ground practice leans in the opposite direction. We are glacially slow to reinvent the system for the benefit of all our genetically diverse children.

The one-size-fits-all approach to education isnt working. Whats needed is one that capitalizes on and nurtures each childs strengths and creativity.

Some people, Harden notes, happen to inherit combinations of genetic variants that, in combination with environments provided by parents and teachers and social institutions, cause them to be more likely to develop a suite of skills and behaviors that are currently valued in the formal education systems of Western capitalist societies.

These are not better people, Harden continues. They are not more inherently meritorious. They are, given the ways our society is currently constructed, the least vulnerable. And, if you are reading this book, you are probably one of them.

And yet, she points out, take the power of the genetic lottery seriously and you might be faced with the realization that many of the things you pride yourself on, your high vocabulary and your quick processing speed, your orderliness and your grit, the fact that you always did well in school, are the consequence of a series of lucky breaks for which you can take no credit.

As a mother, Harden said in an interview for WBUR,Bostons NPR news station, if Im looking at what makes a good school, Im not looking for a school thats going to treat all of my kids the same. Im looking for a school thats going to equalize their ability to profit from that school, to learn, to accommodate their uniqueness.

Thats a good lesson, but how many have that opportunity? In sum, Harden hopes those who structure society will begin to take all of our differences into account. Were coming to understand that we all roll down the hill of life together. We dont face the same moguls and jumps, but the more we can make smooth paths for everyone, the better off well all be.

What kind of world do we want to live in, given that every time we conceive a child, we have so little control over whats going to happen there, she concludes. How do we accommodate that role of chance and luck for everyone to participate as equals.

What Im really interested in, Harden told Vision, is coming up with scientifically based, data-driven, empirical solutions to problems that both the Left and the Right can agree on.

She observed that both sides of the political spectrum have end goalsgood things, like reduce child poverty or drug use or abortion, or encourage marriage. You know, insert your political goal here. As a psychologist youre trained in thinking about how good intentions are not enough and that policies can have unintended consequences. We cant just say, Here is the problem and the solution that I think will work, and end there. You actually have to see whether or not what youre doing is achieving its desired end. Its not just how you think people should behave but how they do behave in the real world.

Knowing all of this, were faced with an existential question: If the lottery had rolled out differently for me, what kind of world would I hope to live in? One that helped me overcome my unlucky deficits? Or one that believed that my problems were my own fault and responsibility? Unfortunately, we live in a world that gives with one hand and takes with the other, apparently vacillating between both possibilities.

For the past century, there has been a persistent and malicious drumbeat from those espousing a eugenic ideology that the vulnerable deserve their vulnerability because of their biological inferiority.

Harden is doing today what biologist Dobzhansky sought to make clear in his day: Heredity determines these traits only in the sense that persons with different genes may develop differently when their life experiences are fairly similar. Excepting some pathological conditions, human heredity is not an inexorable fate. Long before we had the ability to do genome-wide data analysis, Dobzhansky understood that genes would play an important role in how we respond to the challenges of life: Human behavior, and all other qualities without exception, can, in principle, be influenced and modified both by genes and by environment.

Now we do have the science to know. According to Harden, When we put together results from fifty years of twin research with results from just a few years of research using measured DNA, the inescapable conclusion is that genetic differences between people cause social inequalitiesincluding inequalities in educational attainment, but also in physical health outcomes such as BMI, psychological outcomes such as ADHD and other mental disorders, and fertility outcomes like age at first birth.

At that Human Genome Project first-draft announcement in 2000, British prime minister Tony Blair joined Clinton at the lectern. The HGP was a global effort, Blair noted, and the rewards that could be drawn from this work would and must have deep impact on improving the human condition. The scientists have presented us with that opportunity that now we, all of us, accept the responsibility to make these advances work for all our people in all our countries for the common good of all humankind.

Understanding the luck of the genetic draw and our obligations to each other is part of that legacy. As Harden concludes, failing to recognize the genetic lottery as a systemic force that creates inequalities does exactly what eugenic ideology would wantpermits those genetically associated inequalities to persist as natural rather than being critically examined.

Knowing what we know now, she contends, we cannot pretend that genetics do not matter. Instead, we must carefully scrape away the eugenicists scientific and ideological errors, and we must articulate how the science of heredity can be understood in an egalitarian framework.

With that framework in place, maybe well begin to see that we must love all our neighbors as ourselves. Only when we reject judgments based on traits over which no one has much (if any) controlrace, gender, caste, class, nationality, ethnicitycan we move beyond ideologies of dehumanization and eugenics.

Excerpt from:
Luck of the (Genetic) Draw - Vision.org

Edward O. Wilson, known as E.O. Wilson, who died last month at the age of 92, was a major figure in the field of evolutionary biology. He made significant contributions to the study of animal behavior, biodiversity, and environmental conservation. However, he is perhaps best known for the controversies stemming from his attempt to found a field of study he called sociobiology, which places great emphasis on the genetic determination of animal and human behavior.

During his career, Wilson wrote, cowrote, or edited over 30 books. He was awarded the Pulitzer Prize twiceonce for On Human Nature (1979) and, as coauthor, for The Ants (1991).

Born in Birmingham, Alabama, in 1929, Wilson earned bachelors and masters degrees at the University of Alabama. He went on to receive his Ph.D. from Harvard University in 1950, and joined the faculty there in 1956, where he remained for a remarkable 46 years.

His early research was focused on insects, ants in particularhow they communicated chemically using pheromones and how they diversified and spread geographically. Through studying the distribution of ant species across islands, he developed mathematical models to predict their spread and differentiationechoing and expanding on Darwins study of species diversity in the Galapagos Islands. He has been dubbed by some, Darwins natural heir.

Wilson tested his model in the Florida Keys by eradicating all insects from small, uninhabited islands and then documenting how immigrants re-established themselves and achieved stable ecosystems. He also conducted extensive field research in the Caribbean and South Pacific during the 1940s and 1950s. During his career, he is credited with having identified and described over 450 species of ants.

Based on this research, Wilson, in collaboration with biologist Robert MacArthur, wrote The Theory of Island Biogeography in 1967, which became a seminal work in the field of ecology. In turn, this approach has been applied to the understanding of biodiversity and the interactions between species, enabling predictions regarding how many species a variety of environments could hold, the impact of habitat destruction on species extinctions and the stability of ecosystems.

Wilsons attention then turned to the study of how natural selection molded animal social behavior, including that of humans. He found that classical evolutionary theory had difficulty explaining the behavior of social animals such as ants. Instead, he drew on the work of William Hamilton, who had proposed the concept of inclusive fitness.

According to classical evolutionary theory, reproductive success, the passing on of ones genes to offspring, defines the concept of fitness of an individual in its environment. The more offspring an individual produces who themselves survive to reproduce, the more that individuals genes increase in its species gene pool (the individual is more fit), compared to other individuals who are less successful in a given environment. This was the standard understanding of natural selection.

In effect, organisms are merely mechanisms for the reproduction of genes (i.e., DNA). Genes that promote the survival of those individuals which bear them tend to be perpetuated themselves and increase in frequency within a population or species. Those genes that are less successful in promoting the survival and reproduction of their bearers in a given environment diminish and eventually disappear. Thus, evolution occurs. Under this model, the effective entity subject to natural selection is the individual organism, which is either successful or not in passing on its genetic material.

Hamilton proposed that among social animals, genes may perpetuate themselves and spread by promoting individual behaviors that benefit not only the individual, but the group to which they belong. In this model, genes that promote the survival and reproductive success of close relatives, or the group as a whole, can spread if an individual with those genes promotes the reproduction (fitness) of others who carry the same genes. Thus, among relatives, an individuals fitness may be inclusive: it may refer not only to their own reproductive success, but to the success of others.

In a 1963 paper, Hamilton described his conception as inclusive fitness, under which the unit of natural selection is the gene, not the individual. According to this model, if an individuals actions, even to the point of that individuals own demise, and consequent failure to reproduce, promote the propagation of the groups genetic information (e.g., altruistic behavior, such as giving an alarm call that alerts other members of the group to the presence of a predator), that fulfills the evolutionary imperative of reproductive success of that set of genes, even if that particular individual does not reproduce.

Wilson sought to interpret the behavior of ants as gene bearers for such a group, and not merely as autonomous, individually reproducing individuals.

Most ants live in highly structured colonies, with a well-defined division of labor. Each colony is composed of a queen, whose primary function is reproduction. The female offspring, the workers, are normally sterile, performing all the tasks necessary for maintenance of the colony, including the collective raising of offspring. Males have only one function, fertilizing future queens. Species in which members of a group have genetically and/or developmentally determined differential reproductive capacities and other highly defined tasks are termed eusocial. This is mostly seen in ants, bees, wasps, termites, and a very limited number of mammals (naked mole-rats). From a reproductive perspective, colonies of ants and other eusocial animals may be viewed as the equivalent of a single, multi-cellular organism, rather than a collection of autonomously reproducing individuals.

It should be noted that, in the overwhelming majority of cases, any single gene is not expressed individually but in combination with many other genes to produce the whole organism, greatly reducing the exposure of single genes to direct selective pressure.

Nevertheless, Wilson sought to apply a gene-centric model, which gained acceptance among biologists in the context of a burgeoning genetic revolution, to understand the behaviors of all animals. Sociobiology: The New Synthesis, published in 1975, presented Wilsons view that The organism is only DNAs way of making more DNA. Based on this understanding, he argued that social behavior, including that of humans, could be explained as a product of natural selection differentially acting on the variety of genetic material in a species.

The publication of Sociobiology initiated a great deal of controversy. So much so that its review in the New York Times was placed on the papers front page. While its proposals regarding social behavior in animals have had an impact on subsequent research, those regarding that of humans have also drawn criticism. Many viewed Wilsons arguments as a form of biological determinism, or reductionism: the attitude that simple processes may explain complex phenomena that in fact require more sophisticated explanation.

Wilson proposed that humans have a weak form of eusociality, such that the behavior of individuals and their roles in the social group is partly controlled by genetics. Some critics, including his Harvard colleagues, Stephen Jay Gould and Richard Lewontin, accused Wilson of biological determinism, Social Darwinism, and even alleged that his ideas logically supported eugenics and genocide.

In his preface to the 2000 edition of Sociobiology, Wilson pushes back against critics who accuse him of reductionism. Specifically referring to Gould and Lewontin, whom he describes as the last of the Marxist intellectuals, Wilson characterizes these critics as advocating a tabula rasa view of human behaviorthat there is no genetic influence at all, which he says suits their aim for socialism to be fitted to the human mind, apparently implying indoctrination.

He goes on to reject the position of other critics, associated with the New Left, who opposed sociobiology on the grounds that it could lead to the conclusion that behaviors such as racism, sexism, class oppression, colonialism, andperhaps worst of allcapitalism! could be genetically based. In one notorious incident, a protester doused Wilson with water, yelling Wilson, you are all wet!

A review of Wilsons discussion of human behavior in Sociobiology reveals that while he seems to take a more nuanced view than some critics suggest, fundamentally, despite protestations to the contrary, he fails to appreciate the qualitative difference between human behavior, based on abstract, symbolic thought, and a huge store of culture, and that of other animals.

He states, Human societies have effloresced to levels of extreme complexity because their members have the intelligence and flexibility to play roles of virtually any degree of specification, and to switch them as the occasion demands. And, furthermore, Roles in human societies are fundamentally different from the castes of social insects.

In his preface to the second edition of Sociobiology (2000), Wilson states, in the creation of human nature, genetic evolution and cultural evolution have together produced a closely interwoven product. And as well: The exact process of gene-culture coevolution is the central problem of the social sciences and much of the humanities, and it is one of the great remaining problems of the natural sciences.

Some of his discussion involves behaviors that are so basic as to be likely to have a substantial genetic component. For example, he proposes that there are epigenetic rules (i.e., in which non-genetic factors, such as environment or learned behavior, modify genetic expression) which provide general frameworks for such things as classification of color, aesthetic evaluation of shapes, acquisition of fears and phobias, communication via facial expression and body language, and so on across a wide spread of categories in behavior and thought. Most of these rules are evidently very ancient, dating back millions of years in mammalian ancestry. Others, like the ontogenetic steps of linguistic development in children, are uniquely human and probably only hundreds of thousands of years old.

However, Wilsons discussion of more complex aspects of human behavior fails to make clear the overwhelming predominance of culture over biology.

An important topic raised by Wilson is that of social class in human societies. A key question of human biology is whether there exists a genetic predisposition to enter certain classes and to play certain roles.

At first, he states, A strong initial bias toward such stratification is created when one human population conquers and subjugates another, a common enough event in human history. Genetic differences in mental traits, however slight, tend to be preserved by the raising of class barriers, racial and cultural discrimination, and physical ghettos.

But then, Yet despite the plausibility of the general argument, there is little evidence of any hereditary solidification of status. And further, Powerful forces can be identified that work against the genetic fixation of caste differences. First, cultural evolution is too fluid.

Scientific research has demonstrated time and time again that there is absolutely no basis for the proposition that there are any differences in intelligence or any other significant behavioral characteristic within or between various modern human populations. Nevertheless, Wilson, leaves the door open to the possibility that such differences may exist. Is this merely a prudent scientists caution or does it betray underlying reservations?

With regard to cultural evolution, again Wilson provides contradictory statements. Ethnographic detail [i.e., different cultures] is genetically underprescribed [i.e., has relatively weak genetic influence], resulting in great amounts of diversity among societies. Underprescription does not mean that culture has been freed from the genes. What has evolved is the capacity for culture, indeed the overwhelming tendency to develop one culture or another.

Few would dispute the first part of this last sentence. However, does this latter statement mean that the humans are somehow genetically driven to cultural diversity? How could that genetic influence be expressed? Again, Wilson is attempting to suggest some degree of genetic influence without providing any evidence to support his contention.

In an even more puzzling statement, Wilson is of the opinion that Human beings are absurdly easy to indoctrinatethey seek it. If we assume for argument that indoctrinability evolves, at what level does natural selection take place? One extreme possibility is that the group is the unit of selection. This suggests that he believes humans capacity for independent thought is somehow genetically limited and that some populations may be more susceptible to indoctrination than others.

There are numerous other examples of Wilsons attempt to have it both ways. One of the more troubling is his contention that warfare promoted a number of what he feels are important human traits: including team play, altruism, patriotism, bravery on the field of battle, and so forth, as the genetic product of warfare. He goes on to suggest that groups with genes for aggressiveness would conquer and replace those that did not, thus creating a positive feedback loop for the spread of aggressive genetics.

But warfare is a recent development in human evolution, a product of class society. To imply that it is somehow a key influencer of human genetics has no scientific basis. Elsewhere, he rejects the contentions of such popular authors as Konrad Lorenz ( On Aggression ) and Robert Ardrey ( African Genesis ) who claim that aggressive behavior was key to early human evolution.

Wilson rejected accusations that he was promoting a right-wing agenda, labeling them as academic vigilantism and criticized Gould and Lewontin in particular for what he labels as their Marxism, which he employs as a derogatory epithet without specific content.

There is no indication that he personally held reactionary views. It appears rather that he was led astray by an excessively mechanical view of human development, and as has happened all too frequently, tried to apply the laws of motion of one sphere of the natural world to another and more complicated sphere. Thus, in Sociobiology, he argued that ethics should be taken out of the hands of philosophers and, instead, biologicized. And, in his later work, On Human Nature (1978), he proposed that in the future, with a much deeper understanding of genetics, a democratically contrived eugenics could be implemented, indicating, at best, a political naivete with regard to its implications within class society. This clearly goes beyond medical interventions for physical ailments, implying behavioral modification through genetic manipulation.

In a more recent work, The Social Conquest of Earth (2012), Wilson appears to step back from rigid determinism. He characterizes humans as the first truly free species, and one which can, based on simple decency combined with the unrelenting application of reason, turn the earth into a permanent paradise. This, apparently, is to be accomplished by somehow freeing humans from the otherwise imperious domination of genetics. However, at the same time, he continued to contend that free will is an illusion.

Wilsons conception of human social organization is a gross oversimplification, betraying a lack of knowledge of anthropology and sociology. Firstly, all members of a human social group can, at least potentially, reproduce (barring illness, etc.), contrary to the condition in eusocial species. There are certainly constraints on reproductive success in class-based societies. However, these are the product of social factors, not on any inherent genetically controlled differentiation. The same is true of all productive tasks, which are based on learned behavior.

Fundamentally, Wilson was unable to bridge the contradiction between a genetically constructed brain that evolved under natural selection and its unique capacity for abstract, symbolic thought, whose content is not genetically programmed. In fact, humans have long since evolved beyond behavior that is primarily controlled by their DNA. The problems facing humanity are social and political, not biological.

In retirement, Wilson devoted his energy to environmental conservation, producing many publications on the subject, including his 1992 book, The Diversity of Life, which became a best seller. He was an advocate of Half Earth which proposed that half of the earths surface, both land and water, be devoted to species conservation.

In sum, E.O. Wilson made historic contributions in the fields of ecology, biodiversity, animal behavior, and evolutionary biology. However, his attempt to explain at least a portion of human behavior as significantly controlled by genetics demonstrates a failure to understand that the development of culture as humanitys primary mode of adaptation has created a qualitatively new level of organization. Just as biology cannot be explained simply by physics and chemistry, human behavior cannot be reduced to biology.

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Dr Roberts work underlined that, as he and Miriam used the New Orleans vampire samples to theorise that the trigger for blood rage is down to human and not creature DNA. Something in Matthew, Jack and Benjamins human genetics was awakened when they became vampires. What does this mean for any potential cure? Thats tbc, as is the precise magical nature of the newborns. Witch? Vampire? Daemon? All three?

It wasnt all celebration as the Mayfair house filled up with returning travellers. There was heartbreak for Gallowglass who understood there was no longer room for him by Dianas side. Dr Bishop took her vampire nephews confession of lifelong love as she does most things with kindness, equability, and entirely in her stride. Diana thanked Gallowglass, recognised his anguish, and quickly moved on. Actor Steven Cree gave us to understand that Gallowglass recovery would take considerably longer. Away he rode into the night on his motorbike of pain. Doubtless there are plenty of A Discovery of Witches fans willing to offer solace to that particular broken heart

Speaking of broken things, Peter Knox has, as they say in the medical profession, totally lost his shit. The mans on a rampage. Dianas method of asking nicely for the book pages has shown far greater success rate than his method, which involves showing up, spitting with rage and threatening everybody with his balls. He swooshed that nice coven witch through a door and then murdered troubled daemon TJ Watson (not to be disrespectful, but has anybody put dibs on his fabulous country house? Call my estate agent). Knox needs to be stopped, and with just three episodes of this show remaining, it needs to happen soon.

Something else that really has to stop for all our sakes, are the tediously intense-yet-moving-zero-forward Venice scenes. Until Gerbert, Benjamin and Satu make their move any move lets stop dropping in on their hostile little exchanges. Even Gerbert told Satu to take a day off and live a little. This is Venice, people, maybe get a gelato and go and look at some Titians? Your centuries-old blood feuds arent going anywhere.

In the time its taken Satu to slink about in black and tell everyone that shes the main witch actually, Diana Bishop has ticked off her to-do list in two different centuries, given birth to twins, and completed her magical training. Knowing Diana, she probably also published several papers in leading journals, supervised a couple of PhD dissertations and was granted tenure at Yale at the same time. Girl gets things done. Satu should give up now, not that she will.

Neither will Baldwin, as proved in his and Matthews could-definitely-have-been-an-email meeting. Support my scion, pleaded Matthew. Cant! Said Baldwin. kay bye, said Matthew.

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A Discovery of Witches Season 3 Episode 4 Review: New Arrivals! - Den of Geek

Researchers hope genetic samples collected from koalas in Victoria's far east will help improve their understanding of how the species deals with challenges including climate change.

Late last year, World Wildlife Fund ecologist Kita Ashman and Desley Whisson from Deakin University collected samples from 20 koalas near Gelantipy in East Gippsland.

The samples are now being processed by the University of Sydney's Koala Genome Project team,which will see how they differ from other koala populations across Australia.

The project, whichwill process samples from450 koalas, aims tobuild a genome map for the species.

The analysis will allow scientists to identify which populations include important genetic diversity orvariants, such as those which provide disease protection or adaptation to climate change.

Researchers could then use that informationto strengthen species' diversity through targeted translocations of koala populations. Those found to have important genescould be moved into areas with low genetic diversity to bolster species' resilience.

Dr Ashman teamed up with Dr Whisson to collect genetic samples from East Gippsland populations to study the koalas' makeup.

They hope to learn whether the East Gippsland koalas were affected by a crash in koala numbers that hit Victoria and South Australia about a century ago.

"We basically put koalas onto islands where they bred up to higher densities, and then a lot of populations across Victoria were re-established from those islands," Dr Ashman said.

"So we're not really sure whether or not the koalas that we sampled from East Gippsland ... went through that population crash, and were re-established from those island populations, which had really low genetic diversity.

"So that's a question mark there that we're trying tofigure out with this research."

To persuade the koalas to come down from their trees, the researchers shook a piece of tarp attached to a pole above their head.

After they were captured, the animalswere weighed, had a teeth check, and a small genetic sample was taken from the skin on their ear.

Koala Genome Project program co-investigator Carolyn Hogg described the first koala reference genome as "a giant puzzle box lid".

"Can you imagine doing a jigsaw puzzle of three-and-a-half billion jigsaw pieces without the puzzle box lid? It's very hard to do," Dr Hogg said.

"So what we call a reference genome is really the piece of information we need to know what's happening with [the] genetics of species."

The koala reference genomewas first published by her colleagues at the University of Sydney in 2018.

The collected samples will be sequenced between 30 to 60 times, whereas most wildlife genetic samples areprocessed five to seven times.

The only other projectthis thorough are Human genetic programs.

"The more times we sequence it, the better resolution we have," Dr Hogg said.

"And the better the resolution, the more information we can gain from the genetic information."

Of the 20 East Gippsland koalas sampled, 14 were females and nine were carrying joeys.

Dr Ashman said the joeys were at a "special age" where they were "really inquisitive and quite fluffy and vocalising".

She said Victoria's koala populations are quite strong and the high number of joeys could be a sign of potential overabundance.

"It's hard to say whether or not that's what's happening in Gelantipy," Dr Ashman said.

"But I suspect that there could be mounting issues of overabundance in that general area potentially."

Dr Ashman said she planned to collect more samples from Victoria for the Koala Genome Project.

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Researchers hope study of East Gippsland koala genes will help protect species in the future - ABC News

Vitamin B12, or cobalamin, is a dietary nutrient essential for normal human development and health and is found in animal-based foods but not in plant-based foods, unless they have been supplemented. Mutations in the genes encoding the proteins responsible for the metabolic processes involving vitamin B12result in rare human inborn errors of cobalamin metabolism.

Vitamin B12diseases can present a complex landscape of characteristics, and to better understand themDr. Ross A. Poch, associate professor ofmolecular physiology and biophysicsat Baylor College of Medicine, and his colleagues have studied two rare inherited vitamin B12conditions that affect the same gene but are clinically distinct from the most common genetic vitamin B12disorder.

Meet three distinct inherited vitamin B12diseases

Patients with the most common inherited vitamin B12disease, calledcblC, suffer from a multisystem disease that can include intrauterine growth restriction, hydrocephalus (the build-up of fluid in the cavities deep within the brain), severe cognitive impairment, intractable epilepsy, retinal degeneration, anemia and congenital heart malformations. Previous work had shown that mutations in theMMACHCgene causecblCdisease.

It also was known that some patients presenting with a combination of typical and non-typicalcblCcharacteristics do not have mutations in theMMACHCgene, but rather in genes that code for proteins called RONIN (also known as THAP11) and HCFC1. The resulting changes in these proteins lead to reducedMMACHCgene expression and a more complexcblC-like disease.

In this study, Poch and his colleagues looked for other genes that also might be affected byHCFC1andRONINgene mutations.

Tackling the complexity oftwoinherited vitamin B12diseases

We developed mouse models carrying the exact same mutations that the patients withcblC-like disease have inHCFC1orRONINgenes, and recorded the animals characteristics, Poch said. We confirmed that they presented with the cobalamin syndrome as expected, but in addition we found that they had ribosome defects. Ribosomes form the protein-building machinery of the cell.

What the findings may mean for patients

The findings have potential therapeutic implications. SomecblC-like patients may respond to some extent to cobalamin supplementation, but we anticipate that will not help the issues due to ribosome defects, said Poch, member of theDan L Duncan Comprehensive Cancer Center.

One step toward designing effective ribosomopathy therapies is to better understand what the defects in the ribosomes are. We plan to functionally characterize the altered ribosomes at the molecular level to identify how their function is disrupted, Poch said.

There are many exciting aspects of this study, from the clinical implications to the basic science. The beauty is in how the work in patients is symbiotic with the work in the mouse model and how each system informs the other, said co-authorDr. David S. Rosenblatt,professor in the departments of human genetics, medicine, pediatrics, and biology at McGill University and senior scientist at the Research Institute of the McGill University Health Centre.

Would you like to learn more about this study? Find it in the journalNature Communications.

Other contributors to this work include co-first authors Tiffany Chern and Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya and James F. Martin. The authors are affiliated with one or more of the following institutions: Baylor College of Medicine; University of Nicosia Medical School, Cyprus; Michael E. DeBakey Veterans Affairs Medical Center, Houston; the Francis Crick Institute, London; Kings College London; McGill University Health Centre, Montreal and Texas Heart Institute, Houston.

This work was supported by the Dan L Duncan Comprehensive Cancer Centers National Institutes of Health (NIH) award P30CA125123 for BCM Mass Spectrometry Proteomics Core, CPRIT Core Facility Award (RP170005) and the following NIH grants: R01 EY024906, R01 DE028298, T32 EY007102, T32 HL007676, R01 HL127717, R01 HL130804 and R01HL118761. Additional support was provided by the Vivian L. Smith Foundation, State of Texas funding and Foundation LeDucq Transatlantic Networks of Excellence in Cardiovascular Research (14CVD01).

ByAna Mara Rodrguez, Ph.D.

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The traditional route to test for a possible genetic disease involves a physician determining what they believe their patient might have. Then, the individual genes for those diseases are tested one by one to discover whether the patient has that condition. When each gene is tested individually, it is called a diagnostic odyssey. The process is expensive and can take years to complete because, at birth, a child might not present any signs of a genetic disease.

Some genetic diseases, like down syndrome, cystic fibrosis, and sickle cell anemia, are easily recognizable, so specific genetic tests can be ordered to diagnose patients. Yet, when young patients show signs of less recognizable genetic disease usually genetic diseases present in the pediatric population there are two avenues to diagnose them.

Its a roller coaster for families, said Ed Smith, M.S., M.B.A., director of UPMC Clinical Genomics Laboratory within UPMC Magee-Womens Hospital, as well as three other UPMC labs at Magee that perform the genetics and genomics testing. With 20,000 genes in the human genome, the variety of potential abnormalities is endless. Some genetic diseases arent curable but having certainty can still bring peace.

By looking at the coding region in the DNA, which contains the genetic material where diseases sometimes manifest, whole exome sequencing tests the entire human genome. The human genome includes every single one of a patients genes, allowing the care team to find a diagnosis for a genetic disease without having to isolate the gene in advance. As of 2020, exome sequencing is offered through the labs at UPMC Magee, which reduces the costs of sending samples to external labs and keeps the entire process within the same system.

Before a patient consents to whole exome sequencing, a UPMC genetic counselor must review the ramifications of the test with their family. Since the test requires a DNA sample, a family could discover non-paternity or end up learning that their child has another disease or unrelated condition that will appear later in their adult life.

You might get valuable information, but the timing isnt always good, said Smith. You could find out that a 3-year-old patient will be at an increased risk for breast cancer in her thirties, so you find clinically important things unrelated to why the child was referred for testing in the first place.

Alex Yatsenko, M.D., Ph.D., director of Clinical Genomics at UPMC, looks forward to improving the costs and efficiency of whole exome sequencing as the field grows. Although sequencing the whole exome can be costly, its worthwhile when its needed and, with prior authorization, covered by many insurers, including UPMC Health Plan.

Even for physicians, whole exome sequencing has required new processes. Physicians must describe their patients symptoms to the UPMC genetics and genomics team using a number system called Human Phenotype Ontology (HPO) terms when referring patients for genetic testing. HPO terms standardize symptom explanations, instead of doctors writing their own descriptions, and the software that the genetics lab uses takes HPO terms and associates genetic changes to the diseases.

Were bringing a digital revolution to UPMC, too, said Yatsenko.

To learn more about genetic sequencing available at UPMC Magee-Womens Hospital, click here.

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A Complex Test of the Genome, Right Here at Home - UPMC & Pitt Health Sciences News Blog - UPMC

A reporter examines a 23andMe DNA genetic testing kit in Oakland, California.

Cayce Clifford | Bloomberg | Getty Images

In this weekly series, CNBC takes a look at companies that made the inaugural Disruptor 50 list, 10 years later.

In 2006, the estimated cost of sequencing a single human genome was about $14 million. That same year, Anne Wojcicki, along with co-founders Linda Avey and Paul Cuszena, started a company that promised to provide direct-to-consumer genetic sequencing for as little as $99.

23andMe stands out as an example of many of the traits we've seen in the most disruptive companies over the last decade: It built a strong consumer brand that has become synonymous with a new business model (personal genetics); it fought off a regulatory challenge that threatened to sink the company in its early years; it partnered with a larger incumbent to expand its business and find a path to profitability; and it rode the wave of popularity of special purpose acquisition companies (SPACs) to reach the public markets. In all, it's a great company for our year-long look back at the inaugural Disruptor 50 list.

By the time the first Disruptor 50 list was published in 2013, and 23andMe earned a spot on the list, the company had raised more than $50 million from investors including biotech firm Genentech, venture capital firm New Enterprise Associates, and Google (Wojcicki's sister, Susan, was an early Google employee and is the CEO of YouTube, and, at the time, Anne Wojcicki was married to Google founder Sergey Brin). Consumers were finding their way to the product, showing both an interest in knowing more about their ancestry and health, and a willingness to pay for it.

Then came the regulators. The FDA stopped 23andMe from making any health-related claims in October 2013, severely slowing its growth and putting it in direct competition with other companies that were more focused on genealogy. The FDA put 23andMe through a two-year review process before finally giving its health data the green light in October 2015. That cleared the way for a period of hypergrowth.

It also cleared the way, following a two year absence, for another appearance on the Disruptor 50 list. The new, regulator-approved 23andMe ranked fifth on the 2016 list, the first of four consecutive appearances from 2016-2019. During that time, it achieved "unicorn" status, announced a critical partnership with pharmaceutical company GlaxoSmithKline to use its genetic data to design new drugs, and the popularity of personal DNA testing soared, becoming somewhat of a cultural phenomenon. The number of people who took 23andMe's test nearly quadrupled from 2017 to 2019, thanks in part to some clever marketing efforts including a commercial voiced by billionaire investor Warren Buffett.

As of last September, the company says, nearly 12 million people have had their DNA sequenced by 23andMe, with 80% of them opting in to research that could lead to new drug discoveries and more. This is its promise as a publicly traded company. In June, 23andMe completed a merger with VG Acquisition Corp, a SPAC backed by Sir Richard Branson. It's been a bumpy road since the stock has lost more than half its value since it began trading under the ticker symbol "ME."

Anne Wojcicki, 23andMe co-founder & CEO (right) celebrates with 23andMe employees after remotely ringing the NASDAQ opening bell at the headquarters of DNA tech company 23andMe in Sunnyvale, California, U.S., June 17, 2021.

Peter DaSilva | Reuters

23andMe now has another thing in common with many Disruptor 50 companies it has to convince investors to believe in the next act. It's thanks in part to 23andMe's initial disruption that the cost of genomic sequencing has fallen by 99.99% in 16 years, but 23andMe's future lies in its ability to power the drug discovery that will help it find a way to sustained profitability as the novelty of sequencing one's own DNA wears off.

The deal with GlaxoSmithKline was extended for another year, the companies announced earlier this month. GSK noted in a release that genetically validated drug targets have "at least double the probability of success" in becoming medicines.

"We want them to truly have a personalized health-care experience and ... benefit the human genome from seeing all of this aggregated data turned into therapeutic programs," Wojcicki said in a CNBC interview on the stock's first day of trading. "When I think about the future of therapeutics, in the next five years it is really about moving these programs forward and getting them into the clinic."

CNBC is now accepting nominations for the 2022 Disruptor 50 list, our annual look at private innovators using breakthrough technology to transform industries and become the next generation of great public companies. Submit your nomination by Friday, Feb. 4, at 3 pm Eastern time.

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One of Google's earliest genetic experiments, 23andMe, paid off here's what will make or break its future - CNBC