Category Archives: Transhuman News

What is DNA? We hear it all the time on crime shows and judicial documentaries, it solves cold cases and points the finger at the guilty party but what is it really? In the short answer, it is the instructions for building a new cell in a living organism.

The molecules, or nucleotides, have four labels A,T,G and C and their order in a DNA strand gives a cell an identity, so to speak. These are coiled into 46 chromosomes and this is split into two sets of 23. All humans have two sets of 23. Most flowering plants have 12 sets, porcupines and red fox have 17 sets. This number does not necessarily dictate the complexity or simplicity of a species, its just the number of chromosome sets.

In Switzerland, 1869 a chemist by the name of Friedrich Miescher accidentally discovered DNA while characterizing protein components in white blood cells. He knew immediately that he had discovered something important but it took over 50 years for the discovery to be recognized in the scientific community. In that time, DNA took a dark turn in research in the bunk field of eugenics which applied a general set of non-scientific rules to all species and did notable damage to the study of DNA.

In 1950, a young biochemist by the name of Emmett Chappelle began his career in plant DNA research. He discovered that even single celled plant organisms photosynthesize and isolated the ATP pair in the plant DNA responsible for this. Later, while working with NASA, he used his research in plant DNA to develop the first real-life space exploration farming situation, the design for which is the current system to be used in potential NASA and Space Force colonization efforts in the future.

DNA research has made leaps and bounds since then and the pursuit for information speeds up every day. In 1986, distinguishing DNA took months and cost thousands, today, it takes a couple minutes and costs pennies. It wins court cases, jails bad guys and liberates innocent people.

It shows us the connection we all have as a species of human across the planet and the origins we all share. DNA research has become so mainstream, even childrens toys come in representations of DNA to teach kids about the instructions for the building blocks of life. With this interest in youth, the future is bright. From DNA detecting disease at the earliest possible moment to taking preventive measures to maybe, one day, eliminating the disease all together with DNA specific medicine and treatment.

From the beginnings and the rocky road out of the gate to the bright future and the attempt at leveling opportunities for all Americans and humans in general, DNA is an important field to understand on the most basic level for humans to appreciate similarities in themselves as a species on Earth.

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What is DNA? A look at the basics - Williston Daily Herald

Early Irish royalty may have been buried in Newgrange tomb, shown at dawn on the winter solstice.

By Andrew CurryJun. 17, 2020 , 11:00 AM

Twenty-five kilometers north of Dublin, a masterpiece of Stone Age engineering rises from the hills: a circular structure 12 meters high, almost the area of a U.S. football field, and made up of more than 200,000 tons of earth and stone. Some of the first farmers to arrive in Ireland erected this monument, called Newgrange, nearly 1000 years before Stonehenge or Egypts first pyramids were built. Archaeologists have assumed it was a ceremonial site and communal tomban expression of an egalitarian society.

Now, DNA from a middle-aged man buried in 3200 B.C.E. at the center of this mighty mound suggests otherwise. His genes indicate he had parents so closely related they must have been brother and sister or parent and child.

Across cultures, incest is almost always tabooexcept in inbred royal families. Its genetic traces at Newgrange suggest social hierarchy took hold in Ireland earlier than thought, according to a new study. Maybe weve been arguing too far that [these people were] egalitarian, says Jessica Smyth, anarchaeologist at University College Dublin who was not part of the team.

The newly sequenced genomes from Newgrange and other Irish tombs are part of a wider re-evaluation of the Neolithic era, which is marked by the advent of agriculture. Over the past decade, researchers have used ancient DNA to track a slow-motion, 5000-year expansion of ancient farmers from Anatolia across Europe. The Neolithic settlers who arrived in Ireland around 3700 B.C.E. were the westernmost limit of that expansion.

Most Irish Neolithic settlements are small scale, with houses of roughly equal size. As seen in Neolithic graves across Europe, their burials show little sign of hierarchy. Even in major monuments like Newgrange, human remains were jumbled together, as if in a communal tomb. Archaeologists [have] argued for a long time for a more egalitarian Neolithic, says co-author Thomas Kador, an archaeologist at University College London.

Newgrange is pierced by a passage that leads to a central chamber; its entrance is oriented so a ray of sunlight illuminates the chamber at dawn on the shortest day of the year. Its clearly a place of public ritual and must have taken a lot of manpower to construct, says geneticist Lara Cassidy of Trinity College Dublin. Hundreds of such passage tomb monuments are found across Ireland.

Most of the bodies in those tombs were cremated. But at the heart of Newgrange, excavators in the 1970s found the unburnt bones of one man, labeled NG10, in a niche decorated with elaborately carved stones. Cassidy and her co-authors were able to extract DNA from NG10s petrous bone, a dense part of the inner ear.

Comparing NG10s DNA and that of other Neolithic burials with DNA from people living on the island centuries earlier shows Neolithic farmers arrived in Ireland as part of a mass migration, and soon swamped or eliminated the genetic legacy of earlier hunter-gatherers, says geneticist Daniel Bradley, a co-author also at Trinity College Dublin.

NG10s DNA also reveals his unusual parentage. In a paper published today in Nature,Cassidy and her co-authorsdraw on parallels in the historical record to argue that the son of an incestuous union buried in such a prominent tomb points to a hereditary ruling class. Matings like that are taboo pretty much universally, with very few exceptions, she says.

Those exceptions include Egyptian pharaohs, who were considered deities who needed to marry each other. Royal siblings in Hawaii and the Incan empire were also known to marry, concentrating power in one family. I believe were seeing a similar social dynamic at play among colonists of Neolithic Ireland, Cassidy says.

Additional DNA from more than 40 people buried at other Neolithic sites, including three passage tombs, supports the existence of a close-knit elite. People buried in passage tomb sites were more closely related to each other than to people buried in other types of tombs, even though the passage tombs were separated by hundreds of kilometers and spanned more than 500 years. Some individuals in the far-flung passage tombs could have been second or third cousins or great-great-great-great-grandparent and child.

Chemical isotopes in their bones show the people in the passage tomb burials ate more meat and animal products than their contemporaries. The burials also include women and children, suggesting social status was inherited rather than won in a single lifetime, for example in battle. Were not talking about strong men, were talking about something that could be inherited and maintained over several generations, Kador says. A small [related] elite called the shots, like in Egypt.

But other archaeologists are cautious. To go from [NG10] to saying these are proto-state societies where you have a godlike elite is pushing it a bit far, says University of Manchester archaeologist Julian Thomas. Its one guy. He notes Newgrange was a burial place for almost 1000 years, too long to make generalizations from a single burial.

Monuments like Newgrange may have been used communally at certain times and co-opted as personal tombs for brief periods, says Alasdair Whittle, an archaeologist at Cardiff University. Its a really stunning discovery, he says of NG10 parentage. But social difference in the Neolithic, when it occurs, was often relatively short lived.

He suggests that in the years before NG10 was born, an elite may have emerged temporarily in response to crisis. A climate downturn in the middle of the fourth millennium B.C.E., around the time the passage tombs reach their peak, could have led to famine, prompting dramatic but temporary change in the way society was organized.

One way to settle the debate is to look at similar passage tombs built on the Orkney Islands and in Wales and France. The question is whether this arose in Ireland or whether they were importing existing social structures into the island, Cassidy says. Its going to be very exciting to see if this is a pattern we see in other areas.

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DNA from ancient Irish tomb reveals incest and an elite class that ruled early farmers - Science Magazine

Researchers from the Okinawa Institute of Science and Technology Graduate University (OIST) have shed light on the reproductive role of 'dark matter' DNA - non-coding DNA sequences that previously seemed to have no function.

Their findings, published today in Nature Communications, have revealed that a specific non-coding genomic region is essential for the proper development of the male and female reproductive organs in rice.

"Rice is one of the major global crops and is the staple food in many countries, including Japan," said Dr. Reina Komiya, senior author of the research paper and associate researcher from the OIST Science and Technology Group. "Further research into how these genomic regions affect plant reproduction could potentially lead to increased productivity and more stable yields of rice."

Many previous developmental studies have focused on genes - the sections of DNA that provide instructions for making proteins. But in complex creatures like plants and animals, a large fraction of the genome - typically between 90-98% - doesn't actually code for proteins.

The vast expanse of this 'junk DNA' has long puzzled biologists, with many dubbing it the 'dark matter' of the genome. But recent research suggests that many of these non-coding genomic regions may have a function after all, giving rise to non-coding RNA.

Scientists have now identified numerous types of non-coding RNA, ranging from small molecules only 20-30 nucleotide bases in length to long molecules of over 200 nucleotides. Although studies show that non-coding RNA plays a vital role in the regulation of gene expression - the process where a gene's instructions are used to make RNA or protein - the precise function of each specific non-coding RNA remains poorly understood.

Dr. Komiya is particularly interested in reproduction-specific RNAs. "These are non-coding RNAs that are produced as the reproductive system forms. I wanted to uncover what role they play in the development of stamens and pistils, the male and female reproductive organs in plants."

In the study, Dr. Komiya's group focused on a reproduction-specific microRNA - a major class of small non-coding RNAs - called microRNA2118.

The scientists created mutant rice strains by deleting a region of the genome that contains multiple copies of the specific DNA sequence that gives rise to microRNA2118. They found that the mutant strains were sterile and showed abnormalities in the structure of the stamens and pistils.

"This means that the role of microRNA2118 in the proper development of the stamens and pistils is essential for plant fertility," said Dr. Komiya.

In order to delve deeper into how microRNA2118 controlled development of the anther, the scientists then identified which other molecules were affected by microRNA2118.

They found that microRNA2118 triggered the cleavage of long non-coding RNA, producing many tiny RNA molecules, called secondary small RNAs.

"Interestingly, these small RNAs were rich in uracil, one of the four nucleotide bases found in RNA, which is very unusual compared to other small RNAs," said Dr. Komiya. "We hope to find out the exact function of these small RNAs - and whether this difference in nucleotide composition is important - in further research."

The scientists also discovered that two Argonaute proteins that were only produced in the stamen were dependent on the presence of microRNA2118. Previous research has shown that Argonaute proteins team up with small RNAs to carry out many regulatory functions, such as silencing genes and cleaving RNA.

Dr. Komiya's group therefore proposes that the Argonaute proteins may interact with microRNA2118 to trigger production of the secondary small RNAs. The proteins may also interact with the secondary small RNAs to silence specific regions of the genome. The team hopes to elucidate exactly how the Argonaute proteins and secondary small RNAs affect development of the plant reproductive system in further research.

"Reproduction is an important phenomenon of passing genetic information to the next generation and is essential for maintaining a stable yield supply. However, development of the reproductive system is complicated, and many aspects remain unknown," concluded Dr. Komiya. "This study shows that non-coding RNAs, derived from regions of the genome that were thought to be non-functional, are vital for plant reproduction. Exploring non-coding RNAs further is an exciting and important area of research."

ReferenceAraki, S., Le, N.T., Koizumi, K. et al. miR2118-dependent U-rich phasiRNA production in rice anther wall development. Nat Commun 11, 3115 (2020). https://doi.org/10.1038/s41467-020-16637-3.

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Essential Role in Rice Reproduction Revealed for "Dark Matter" DNA - Technology Networks

Analysis of genetic variation has uncovered 230,000 differences in DNA among varieties

Scientists have described the genetic underpinnings of 100 different types of tomatoes.

June 18, 2020

A new analysis of genetic variation in tomatoes has uncovered more than 230,000 previously hidden, large-scale differences in DNA among varieties. As tomato plants evolved, segments of DNA were deleted, duplicated or rearranged. These genomic "structural variations" underpin much of the vast diversity in tomatoes, changing flavors, altering yield and shaping other important traits.

The results are published in the journal Cell.

The study, a National Science Foundation-funded effort led by Cold Spring Harbor Laboratory biologist Zachary Lippman and Johns Hopkins University biologist Michael Schatz, is the most comprehensive analysis to date of structural genome variation for a major crop, the researchers say. Breeders and scientists will be able to apply the information to breed or engineer new, more desirable plants with greater efficiency.

Large-scale differences between genomes, known collectively as structural variants, are likely responsible for a wide range of plant features that breeders care about, but these elements have been notoriously difficult to study, leaving much of the genetic basis of tomato diversity unexplained.

New DNA sequencing technology along with powerful new genome editing technology has recently made structural variants easier to detect and enabled the study of how they affect crop traits.

"There was a massive amount of natural genetic variation that we were blind to," says Lippman. "The only way to get at it was through this new technology."

The researchers sequenced and compared the genomes of 100 different varieties of tomato, including robust varieties suitable for industrial agriculture, succulent heirlooms and wild relatives of cultivated tomatoes.

"This research is a great example of the power of taking a comparative approach to functional genomics," says Clifford Weil, a program director in NSF's Plant Genome Research Program. "The wealth of structural variants in this one crop, and how much they explain the wonderful variety in traits we all love about tomatoes, is a fantastic toolkit for breeders and biologists alike."

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The DNA that gave us 100 different kinds of tomatoes - National Science Foundation

Commercial DNA testing can be fun and accurate, but there are pitfalls you should be aware of, particularly when it comes to your privacy

Human nature is punctuated with a desire to understand. To understand the world, our place in it, as well as our place within our own bodies: what am I, where did I come from, and what is going to happen to me?

This need to understand ourselves, our pasts, and our futures could be why genealogy has become the second most enjoyed hobby next to gardening, and the second most visited category of websites, after pornography.

Now thats popularity.

This devotion to tracking family trees has only amplified now that over-the-counter DNA testing kits are so prevalent; not only are they easy to take, but the test itself is relatively free of problems, says Dr. Thomas Merritt, geneticist and Canada Research Chair in Genomics and Bioinformatics at Laurentian University in Sudbury.

DNA sequencing is super easy, this is not rocket science, he says. The accuracy of the testing is as good as it needs to be.

And the actual test-taking, usually a cheek swab or having to put a surprising amount of saliva into a test tube 2 millilitres, or about a half teaspoon is fairly straightforward.

Nothing is ever foolproof; the test is dependent on the fool whos holding it, he says. But from my experience, its really hard to get someone else to spit in the tube that youre filling.

So cross-contamination is not really an issue.

The real issue with the DNA testing services now available comes down to privacy, and privilege.

Currently, companies providing consumer DNA testing are offering a wide range of services based on your sample: you can move beyond finding family members and into your ethnicity or ancestry composition as it is often referred to and even medical testing for predisposition to illness and injury. In fact, there is one company that offers the chance to understand your best diet, physical fitness routine, detoxification pathways, mental wellness and even which supplements are best for you, all based on your DNA. And of course, theyd be happy to sell you the supplements they recommend.

But how accurate can they possibly get with just DNA? That depends on who you are.

Each company has access to public databases, as well as their own data set, a collection of samples from every person that has used the companys service. This information is compiled as each companys proprietary data set. The more people who use a particular company, the bigger the data set they have, and the more accurate their predictions for your ancestral composition.

For instance, when Dr. Merritt took three companies tests two years ago, he was amazed by the accuracy of the results, based on his understanding of his own family history. Not only did the results accurately show his familys pattern of migration within a couple of decades and fifty miles, but it did so only from his DNA, with no additional family information. But, he says, that comes down to what they showed as his ethnic makeup. The first thing they told me is you are surprisingly white. Even for white people, you are translucently white.

Thats because the data set for most of these companies is built from those who would have no issue revealing everything about themselves, down to the base pairs, as Dr. Merritt puts it.

I am a white male from middle-class United States, he says. I grew up in the suburbs of Connecticut, my dad worked in Manhattan, I went to a prestigious university and I was on the crew team.

I am the physical embodiment of privilege. I should be president of the United States. The system is completely designed for me.

He says this made him more apt to take the test, as the system has never done anything to harm him. If I was a person of colour, if I was a woman, if I was queer, if I was Indigenous, those are very different conversations.

There is a great deal of information that can be found out from DNA. For instance, the genetic component to sexual orientation. There is an allele (pairs or series of genes on a chromosome that determine the hereditary characteristics, such as hair colour) that when present means the person is 75 per cent more likely to be gay than the average population. Unfortunately, thats information that could be detrimental to the life of the person behind the DNA and reason to avoid the test in the first place.

And any attention paid to the world right now should give context to why people of colour would want to avoid sending their DNA to an outside source.

This will not only affect the accuracy of ethnicity testing for those who are not reflected in the data set, but also in the medical aspects of what each company offers.

The issues with the medical side are a bit more involved, but come down to sequencing, data sets, and our understanding of medical issues.

Sequencing, the actual reading of DNA strands, would be looking at the six billion pieces of information in an individuals genome genome meaning strands of DNA.

Between two people, there are six million differences.

Most of the differences are actually known, so there are a couple of hundred thousand differences that are really common, says Dr. Merritt. And so you dont have to actually sequence the whole six billion points of information, what you have to do is look at those 250,000 spaces that are different It gives you almost as much information, but it does so in a much more economical way.

And if youre highly reflected in the data set, youll get fairly accurate results from the 250,000 spaces. If youre not, then your answers will be limited.

For example: lets say that within the data set, 99 per cent of people have blue hair, and one per cent have green hair. If the data set contains one million people to compare to, the sample will accurately reflect the makeup of blue versus green. If you only test 100 people, you only have a one-per-cent chance of finding the green.

Thats where the privilege comes in, says Dr. Merritt. If you want to identify markers for a specific disease, and were to look at this population and the disease happens in one per cent of this population, and we look at a million people to be pulled from, youre going to find markers for that disease.

But if were now not doing white middle-class America, lets say your family emigrated from Sri Lanka, and youre female. Youre going to have a different genetic profile than I am. And youre going to be represented by about maybe one per cent of that data set. Are we going to find those markers? We havent sequenced the entire genome, were looking for the markers that are highly variable. If youre underrepresented in the data set, we dont know what markers are more or less variable in the world population.

And thats not to mention the issues surrounding the current understanding or the holes in that understanding of the genetic component to diseases and disorders, as well as the recipients reaction to their test results.

Some people may become obsessed with the information, and occasionally that could result in healthy lifestyle changes; in other cases you could have a smoker who refuses to quit because they dont have a genetic pre-disposition to lung cancer.

Your average biological characteristic is about 10-per-cent genetics, so if I were to go through and look at a genetic predisposition for heart disease, I know that that predisposition for heart disease is going to give me a piece the story, and the fact that I had a fried egg sandwich for breakfast will be another piece of the story.

While many of these companies are putting effort into increasing the diversity of their data set with programs and support, there is still the hesitancy to register such a personal part of you and your history with a company.

Because security is a concern.

In addition to hacking, which is almost a foregone conclusion for personal data, the consumer DNA companies are beginning to partner with pharmaceutical companies, offering their data to them for research and development. Sounds like a logical partnership, until the possibility for impropriety sneaks in.

Anyone who has read an advice column or heard from a friend who took a test might hear of a family blown apart by the results of a test showing siblings or unknown parentage. You might even be contacted by a long lost relative who recently took the test and found their connection to you.

Or, despite having never taken a DNA test, you can be identified because a member of your family did: enter the Golden State Killer. Police had a sample of the serial rapist and killers DNA on file for years, but never anything to compare it to. Then GEDmatch offered the chance to look for even the barest of similarities to the polices DNA sample. There was one. A partial match led them to search within the family of that match for a possible suspect, and he was arrested soon after.

And while that is an amazing story of science stopping a horrific series of crimes, there is the other side of the coin: not only can 60 per cent of white Americans be identified in just the same way, regardless of their DNA sample status, but even anonymous DNA samples can be used to find not only the original donor, but their entire family, just by using the internet.

Starting with 10 entire genomes publicly available as part of the international 1000 Genomes Project, researchers designed an algorithm to mine these genomes, all from men, for specific variations in the Y chromosome. After searching two consumer genealogy databases, as well as public records, the team identified five of the 10 research participants and their entire families, which were also part of the genome research project.

It comes down to this. If you are comfortable with the chance of identification, or having your data sold to a pharmaceutical company, then the consumer testing is an interesting way of finding out more about yourself, down to the base pair. But what that means in terms of accuracy even as the companies specifically state their informational and entertainment only purposes comes down to more than just how well you take the sample.

Its about your privilege in the world.

Jenny Lamothe is a freelance writer, proof-reader and editor in Greater Sudbury. Contact her through her website, JennyLamothe.com.

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Discover: So you want to have your DNA sequenced .... - Sudbury.com

As a Black woman descended from enslaved people, I often see ads for DNA ancestry kits that promise they will connect me to my roots, and I feel sorely tempted. Where in Africa were my ancestors stolen from? What languages did they speak, what beliefs did they hold? Could I somehow recover even the tiniest little piece of those identities stolen so long ago?

It is not a yearning exclusive to the Black community by any means, considering the various populations across the globe that have been forced from their ancestral lands and/or had their heritage and culture forcibly suppressed throughout the ages, but it is particularly common to the Black community. While I dont have hard statistics, from personal experience and anecdotal evidence I do feel that at-home DNA kits have been targeting Black consumers on the ancestry front more and more, realizing the particular allure their claims have for the many descendants of enslaved ancestors stolen from their homelands and purposefully stripped of their identitiestheir beliefs, their families, even their names. Ive started hearing more friends and family talking about using at-home DNA kits; I see more and more Black actors in DNA kit advertisements; at a Juneteenth celebration I attended one speaker openly encouraged the practice, enthusiastically sharing her own results.

I understand the yearning. I feel it myself and I know both sides of the coinI know exactly the sense of place and heritage Im missing on my fathers side because I have it on my mothers. While my fathers ancestry is full of questions and a surname that once belonged to a white man who owned my forebears, my mother is Irish, born and raised in a small town on the same land her family has farmed for generations. I spent most of my childhood summers there, exploring the dilapidated farmhouse that started off as a one-room stone cottage predating the Irish Potato Famine, hearing about how (for reasons I have never uncovered) my ancestors fared better when the blight came than several other nearby tenant farmers, who, so the story goes, would rummage through our garbage heap in search of turnip peels.

There is a sense of belonging and legacy in knowing a place like that, in being able to go to exactly where your ancestors lived and died, to sit in the shade of a tree you know a forebear planted. It is a privilege so widespread in some communities they have little notion of its specialness, or how many people have had that privilege stolen from them, sometimes several times over.

The prospect of being able to reclaim some of that privilege through genetic ancestry testing is hugely alluring. Unfortunately, it is also too good to be true, a promise that cannot really be kept, a stack of half-truths and statistical guesswork presented under a false veneer of certainty.

Consumer genetics companies sell us all a narrativea narrative of ourselves, of science certified self-discovery. Its a very tempting narrative, and theres now a multi-billion dollar industry that indicates they have gotten very good at selling it.

Most of these companies really sell three different thingsancestry, health information, and genealogy (i.e. connecting family trees)and sell them as if all three are equally accurate and scientifically backed. This is absolutely false. If connecting relatives and flagging genetic alleles of potential medical concern is like going outside and seeing what the weather is like, attempting to trace ones ethnicity and ancestral heritage via genomics is a lot more like looking at the tail end of a 30-day forecast. Theres a scientific basis to the projection at some level, but also significant room for error and, in the case of ancestry testing, lots of suppositions at play that can never be fully verified.

Theres been some reportage in the past few years regarding how DNA kit consumers have actually seen their ancestry results shift enormously as companies revamp their predictive models, but not nearly enough discussion of what that means, and exactly what it says about the half-truths and misconceptions on which this hugely profitable sector of the genomics industry is based.

Sure, companies lie through their teeth in advertising all the time, but theres something particularly disgraceful and infuriating about building an entire business around the impossible promise of revealing the truth, so lets break it down.

No matter how tempting the find your heritage message may be, or how adept DNA testing kit companies have gotten at pushing it, the thing that always stops me from succumbing to the siren song is a memory of a single PowerPoint slide from a Genetics course I took in college.

Theres a concept known as gene flow that refers to the transfer of genetic variation between different populations, and on that particular slide was a maxim so popular its often abbreviated: One migrant per generation is enough to conserve gene flow between populations, or OMPG. In other words, if there is any interbreeding at all between two groups, they are not going to diverge in any genetically distinguishable way. To apply this to the big picture, all human beings are 99.9% identical, and the variation in that remaining 0.1% really doesnt break down in a way that will tell you much about an individuals ancestral origins since our species, generally speaking, has long had a propensity for moving around and procreating with other human populations encountered along the way.

At this point, you might be wondering what ancestry DNA tests are actually testing, then, and how exactly they generate all those impressively specific percentages and spiffy graphs they give you in your results. The answer to that involves a whole lot of statistical calculations and banking on frequencies.

Heres a quick, hugely simplified run-down: there are regions within the human genome known as single nucleotide polymorphisms, or SNPs (snips). These are basically hotspots for genetic variation, places where its particularly common for random mutation to lead to one nucleotide being swapped out for anothera C to a T, for examplein a way that usually has no impact on an individuals health or development but is from there passed down through the generations (unless, of course, another mutation occurs somewhere down the line). SNPs are, in other words, silent mutations, but they are the lifeblood of ancestry testing because having a lot of SNPs in common suggests shared ancestry. The more SNPs in common, the more recently individuals likely shared a common ancestor. As for what a lot means in this context, of the 3.2 billion nucleotide base pairs in a human genome, some DNA ancestry tests analyze half a million or more SNPs.

As described earlier, there arent specific Somalian or Nigerian or Irish or Italian genes to look for in the DNA itself. What these companies do is take known reference populations to identify SNPs and patterns of SNPs that are particularly prevalent within particular ethnic groups and then analyze a customers DNA for the presence of these.

So, where do these known reference genomes come from and how can we all be so sure these people accurately know their ancestry dating back hundreds of years when the rest of us are being marketed kits to figure that out? The answer is we dont know, and these companies are incredibly tight-lipped about the whole thing.

I tried clicking around the 23andMe website for a while and eventually came to a very long, graph-filled page about the companys state-of-the-art geographic ancestry analysis which quickly boasts about the 14,000 people with known ancestry providing the basis for their analysis. The page then spends several thousand words giving an introductory genomics lesson that manages to not address how their analysis actually works at all, or why anyone should actually put any stock in the results it spits out. When the foundational reference data-set is brought up again, it is described as including genotypes from 14,437 people who were chosen to reflect populations that existed before transcontinental travel and migration were common (at least 500 years ago), which really, if anything, just begs more questions instead of providing any meaningful answers.

On the one hand, if you really believe in the unparalleled integrity of large corporations, you could make the case that such obfuscation is necessary to protect valuable trade secrets and there is nothing more to it than that. On the other, there is room to suspect between the handwaving and the support pages with fine print disclaimers like predicting inheritance is not an exact science that the secrecy might also have something to do with not wanting potential customers to cotton on to the fact that theyre selling a service that is one part science and two parts snake oil. Regardless, theres a distinct irony to having a whole industry built on the assumed accuracy of a known ancestry reference pool that most frequently promotes its product with ads about people thinking they know their heritage and discovering they were wrong.

Genetic testing isnt fundamentally evil or bad. There is a long list of privacy and ethical concerns surrounding the practice that have worryingly not yet been addressed in any meaningful way, but there are a number of legitimate applications for genetic testing that have the potential to do a lot of good if regulated appropriately. I, myself, have taken a particular kind of genetic test before and found it helpful. I deal with depression, and when trying to find a medication that was a good fit, my psychiatrist at the time suggested I do pharmacogenomics testing, or drug-gene testing, which specifically looks at your genes for variations known to be correlated with limited efficacy or experiencing side effects from a range of medications. My results indicated that the mechanism of action at work in many common antidepressants would be likely ineffective in my case, so the psychiatrist ended up prescribing a relatively new drug that worked differently. It ended up being a good fit for me. Odds are she would have suggested something else if I hadnt done the testing, and I ultimately think the test was worth it.

Genetic testing is a powerful tool, and only growing more so as our understanding of genetics evolves and methods become more and more sophisticated. But genetic testing is not all-powerful. There are certain things it cannot really tell us, not because we need bigger data sets or are still waiting on crucial breakthroughs, but because the shoe just doesnt fit, and it never really will.

Heres the thing about race, ethnicity, and culture: its not genetic. Yes, when you look at things like skin color and hair texture, there are connections, but its a Venn diagram with limited overlap. Thats not to say that race, ethnicity, and culture are somehow not real or not important. They are all very real and incredibly important. They just are not ultimately geneticalthough sometimes genetic-adjacent, if you will.

Were clear upfront that DNA is not identity. DNA is not culture, Robin Smith, the head of 23andMes Ancestry Division told STAT News for an article published last year, although clearly not the companys marketing department. Like other DNA ancestry kit companies, it rakes in millions of new customers every year with the allure of discover who you really are, not well send you a guess of who we think you might be based off of contested hypotheses and dodgy methodologies, then sell your genetic data to third parties for hundreds of millions of dollars because somehow people might not be as interested in forking over $100 or so when presented with the second option.

There are a lot of stories out theresome heartwarming, others heartbreakingabout DNA kit results completely reshaping a persons sense of self and family history. Now, if the results tell you that youre positive for a BRCA1 mutation or you have a long-lost cousin or your uncle is actually your dadthats all relatively straightforward, cut-and-dry genomics, and unless a lab technician processed your tube of spit wrong somehow, the findings are almost certainly accurate. But ancestry is a different matter. If you want to do a DNA ancestry kit as a bit of a lark or out of idle curiosity, thats one thing, but know that whatever results come back are just guesses, and can never be anything more.

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Don't Fall for the Impossible Promise of DNA Ancestry Kits - Pajiba

DetailsCategory: DNA RNA and CellsPublished on Tuesday, 23 June 2020 13:17Hits: 270

Century Therapeutics Canada will develop induced pluripotent Stem Cell (iPSC)-derived allogeneic immune cell therapies against glioblastoma (GBM)

PHILADELPHIA, PA, USA I June 23, 2020 ICentury Therapeutics today announced its acquisition of Empirica Therapeutics to leverage its iPSC-derived allogeneic cell therapies against glioblastoma (GBM).

We are pleased to welcome the Empirica team to the Century family. Their deep expertise and unique capabilities will allow us to accelerate efforts to develop iPSC derived immune effector cell products designed to treat and potentially cure brain cancer, said Lalo Flores, PhD, Chief Executive Officer of Century Therapeutics. GBM is a particularly aggressive, often treatment-resistant form of adult brain cancer with an average survival time of under two years. Together, we are in a stronger position to develop potentially curative cell therapies for this devastating disease.

Empirica Therapeutics was founded by Dr. Sheila Singh, MD, PhD, Professor of Surgery and Biochemistry and chief pediatric neurosurgeon at McMaster Childrens Hospital, and Dr. Jason Moffat, PhD, Professor of Molecular Genetics at the University of Toronto and an expert in functional genomics and gene-editing platforms. The companys science is based on a powerful integrative multi-omics platform, combined with its unique patient-derived, therapy-adapted models of recurrent GBM, that has led to the discovery and validation of novel brain tumor targets. Empiricas cutting edge preclinical models of recurrent GBM, have demonstrated the potential of CAR-T cell therapy in GBM, as published in a May 2020 Cell Stem Cell paper.

Our team is excited to become part of Century Therapeutics, whose iPSC-derived allogeneic cell therapies show immense potential for treating solid as well as hematologic malignancies, said Dr. Singh. Dr. Singh served as Empiricas CEO after co-founding the company with Chief Scientific Officer Dr. Moffat. We look forward to combining our unique patient-based cancer models with Centurys platform to create promising treatments for the patients who need them most, Singh said.

Janelle Anderson, PhD, Chief Strategy Officer at Century Therapeutics, shepherded the deal forming the subsidiary, which will be known as Century Therapeutics Canada and based in Hamilton, Ontario. Financial terms of the deal have not been disclosed.

About Century Therapeutics

Century Therapeutics is harnessing the power of stem cells to develop curative cell therapy products for cancer that overcome the limitations of first-generation cell therapies. Our genetically engineered, universal iPSC-derived immune effector cell products (iNK, iT) are designed to specifically target hematologic and solid tumor cancers. Our commitment to developing off-the-shelf cell therapies will expand patient access and provides an unparalleled opportunity to advance the course of cancer care. Century was launched in 2019 by founding investor Versant Ventures in partnership with Fujifilm and Leaps by Bayer. For more information, please visit http://www.centurytx.com.

About Glioblastoma (GBM)

Glioblastoma (GBM) is one of the most common types of primary brain tumor in adults and is almost uniformly lethal, with less than 5% of patients living beyond five years. GBM has an incidence rate of 3 per 100,000 people annually in the United States of America. The standard of care for GBM consists of tumor resection following by chemotherapy and radiation. Despite aggressive multimodal treatment, almost all patients experience relapse 7-9 months post-diagnosis and median survival has not extended beyond 16-20 months over the past decade. Recent studies suggest that the primary GBM tumor evolves significantly during the course of therapy and presents itself as a much more aggressive tumor at the time of recurrence. The treatment-resistant nature of GBM to standard therapies provides compelling motivation for developing novel treatment approaches.

SOURCE: Century Therapeutics

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