Everything you know about genetics is wrong (Adam Rutherford)

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A brief history of DNA, the story of genetics and how we're culturally predisposed to misunderstand it.

Adam Rutherford is a scientist, author, broadcaster and geek. On radio, he is the presenter of BBC Radio 4 (InSide Science) as well as many documentaries on scientific fraud, inheritance of intelligence, MMR and autism, human evolution, astronomy and art, and the evolution of sex. Being a self-claimed movie geek, he has also been scientific advisor to Björk's movie Biophilia Live,

Adam has a PhD in genetics, is a former Editor at the journal Nature, and will give a brief history of DNA, the story of genetics and how we're culturally predisposed to misunderstand it.

👍︎︎ 4 👤︎︎ u/easilypersuadedsquid 📅︎︎ Feb 29 2020 🗫︎ replies
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what I've discovered over the last 10 years is that compared to subjects like physics particularly quantum physics or astrophysics where the concepts are so distant from us as people but they're almost easier to understand especially they're easier to understand when when there is revelation or when new discoveries are made in contrast genetics human genetics is fundamentally about families inheritance and sex and these are things that we all experience and we think we know about and what science does is remove those biases it removes our the ways that we think we perceive the world and tries to describe how they actually are and so in genetics I find my thesis is though when we talk about inheritance when we talk about genetics when we talk about families and we talk about sex we come with a load of baggage which has turned out to be not quite what is true anyway so the the the the sort of subtitle to this is why we are culturally programmed to misunderstand how genetics works and I'm going to start with a story about this man this is charles ii of spain so carlos ii and he was Carlos was the last ruling member of the Habsburg dynasty in the Habsburgs who many of you will know from studying genetics and from studying history were the most powerful family in Europe for almost 200 years until 1700 during that time the Habsburg family provided six Holy Roman emperors and ruled the largest chunk of of Europe right down to the Spanish Peninsula for almost 200 years but it ended when charles ii died aged 30 1870 1700s because he didn't leave a son or heir and the reason he didn't leave a son or heir was because he was proud profoundly disabled he had an extraordinarily troubled life he didn't learn to walk until he was seven he didn't learned walk until he was about eight he was physically disabled he was mentally disabled and he got weirder and more disabled during the course of his life he was by the time he was 14 the rule was effectively given to his arms but he lived until he was 38 and he was almost certainly sterile several attempts were made to for him to procreate with several different women and they never conceived so he was probably sterile and possibly impotent as well now for all of these reasons the people of Spain gave him a nickname which was carlos el acusado right which means they're hexed or the bewitched and we now think that he was hexed he was bewitched because of the really profound level of inbreeding that existed within this family so the Habsburgs are known for their chin and their lip that very distinctive facial characteristic which is passed down through the Habsburg family probably because of this incredible level of inbreeding and it's it's pretty ugly right but some actually it was considered a badge of honor in terms of it being the stamp of divine rights the stamp of royalty so he's a few of his family members so that's Charles that's his uncle that's another one of his ancestors and another one and and this gentleman here is aren't actually now when we see this this this characteristic this Hapsburg lip all through these people and we think about how inbred this family was let's have a look at this family tree so for the geneticists among you in fact for anyone who knows what a family tree should look like this is not it's a family tree seven generations back if you have two parents and four grandparents and eight grand great-grandparents by the time you get seven generations back you should have 250 odd people on your on your family tree actually most people have fewer than that because most people are relatively inbred as humans are as a species Charles had 29 on this family tree so if we just take an example this is Mary owner of Austria which is his mother and this is Philip the fourth of Spain which is his father now Maria Anna of Spain is Maria Maryana of Austria's mother and Philip the 4th sister said this woman here is his grandmother and aren't at the same time what that means is that this woman Margherita of Austria is his great-grandmother and grandmother at exactly the same time which means that this person Charles here is his great-great grandfather great-grandfather and great-great great-grandfather all the same basically on a family tree you should never see loops like this and like this and like this and like this and what we think this means genetically is this well in fact we know this because it's been calculated in 2011 by a Spanish group of analyzed his genome his inbreeding coefficient is about 0.25 for what that means is more than a quarter of his genes are identical on both chromosomes which means that the possibility there being recessive disorders emerging because they didn't have a dominant characteristic a corrective one on one chromosome he's at a quarter of all of his genomic material is subject to being homozygous and every single allele which is more than if a brother and a sister successfully have a child so basically you know genetically he was a mess and it all starts and facts up here with this woman who Joanna of Castile now her nickname was la loca any Spanish speakers amongst you la loca means the crazy or the insane all the mad she had some some severe mental health issues which we haven't been able to accurately posthumously diagnose but in terms of the family tree at the level that she was at there should be 32 women on one generational line at that level now because there are so many intergenerational breeding processes in this family tree actually we don't have clear generational lines in this family tree but in the two lines that she occupies there should be 32 and 64 women and she occupies 14 spaces which be individual women so the basic point to this is that inbreeding is really really bad for families but really really good for geneticists and then that's not really relevance like that guy there but he's just there that's my next king all right so when we're talking about family trees we just just go through some of the basics of biology which all of you will know very well and so this is the first really important family tree that was ever drawn 1837 Charles Darwin sketched down this in one of his notebooks and where he was beginning to think following his trip on the Beagle he was beginning to think about how characteristics were passed from generation to generation and how that resulted in the diversity and radiation of species and 20 years later he would publish the most important book ever written so that this is a family treatise an incredibly important family tree in terms of what it looks like now well actually in 2003 so this is a very famous phylogenetic tree of well it shows the diversity of life on Earth in general but it actually it's changed since then but what this shows us about 2000 individual species which you can just about make up make out that these are these little hairs on the edge of this circle are in fact individual species so all of bacteria and archaea are crammed in here which is not really representative power the truth is but you've got process which a single-cell eukaryotes here you got plants up here animals there and a big chunk of fungi down here the origin of life is there where the the first living cell that we refer to as Luca the last Universal common ancestor speciated and divided into two branches like archaea and bacteria and that happens roundabout there I've got a whole other talk about why their sentence I just said is entirely wrong but you'll have to you have to come back another time for that and incidentally if you're if you're interested in if you're a little bit anthropocentric if you're interested in humans just focus up there and that is where we are okay so those ideas about the the radiation of life on Earth the tree the branching tree lights structure of how evolution by natural selection works that was all happening in the mid nineteenth century and as all students of genetics and the history of science know round about the same time Gregor Mendel a monk from a monk and scientist I don't really like calling him a monk he may have been a monk but he was a much better scientist than he was a monk actually he was pretty good monk as well so he was a good man kind of good scientist but I'm just going to call him a scientist he was coming up with the the rules of inheritance by breeding his pea plants together 29,000 people arms bred together to produce Mendelian rules the rules of how characteristics are passed on from generation to generation as every school kid has learned and he was prefiguring of course Darwin didn't know about this were but it would all come together in the at the beginning of the 20th century so you know the fruit fly is an incredibly important model species for genetics and in the early 20th century in the fly labs in New York th Morgan was working out that individual characteristics were carried on individual bits of DNA and chromosomes and that these were accounting for characteristics like having red eyes and having white eyes and a fruit fly and we do these experiments at school and as undergraduates where you take white eyed flies and you take red eyed flies and you breed them together and you get proportions of red and white flies and you never get pinkeye flies and so again we began to understand how units of inheritance are passed from generation to generation and how characters how particular traits emerge in organisms and fruit flies and humans and pea plants as a result of those Mendelian rules of inheritance of course in 1953 the double helix the structure of DNA was elucidated the fact that DNA was the hereditary material was known before that and the late 30s by Oswald Avery's studies amongst others but it was quick and Watson who worked out that the the the structure of DNA was the iconic double helix and they did it by using some of the work of Rhea Gosling Morris Wilkins and primarily rosalind Franklin who generated this image actually Rhea Gosling took photo but Roslyn Franklin was the expert on x-ray crystallography generated this image which is known as photograph 51 incidentally just opened in the West End in London last week is the play called photograph 51 with Nicole Kidman playing rosalind Franklin I haven't seen it yet but it's had very good reviews so how about that Crick and Watson acquired that data and over the course of a few months at the beginning of 1953 worked out that the double helix is the structure of DNA and that that allowed the mechanism for the transfer of information for generations to generation now the structure of DNA is probably the most important scientific discovery of the 20th century and it is because the structure the double helix is inherent to its function it's not just that it's pretty it's not just that this is how it's packaged up together but the fact that it is in this double helical shape this twisted ladder is in it gives it it bestows two specific things that DNA can do the first is that it allows replication of that molecule perfect replication where if you take the ladders and I know you all know this but I'm going to go through it anyway if you take the two branches of the ladders which are held together with the struts by the nucleobases AC T and G they pair up in a particular way a pairs with T C pairs with G and if you split them up you have all the a's and t's and c's and g's on one side which means you know what's missing from the other side so you can split this molecule in two and you have all the information on both strands which allows you to replace the missing strands so where you have one molecule at first through the process of replication you have two molecules afterwards and that goes on in every living cell and has been going on in every living cell for the last four billion years in an absolute continuous way this is an animation of that process in action by drew Barry who constructs the best molecular animations around and what you see here is the double helix being fed into a little protein complex here where it's being separated into its two single strands there is one single strand there there is the other single strand there now as the single strands wind out they then fed into another protein complex where the missing strand is replaced so you get one double helix being split in two and then replaced into two double helixes so one double helix one and in the second double helix there okay so this is the process by which replication occurs this is the process going on in your cells right now it's been going on continuously in every cell that has ever existed in every organism that has ever existed since around about 3.9 billion years ago which is pretty impressive so that's that's the first thing that DNA does and the second thing that DNA does is that it is effectively a code or it contains a code because those letters those nuclear bases on the inside of the double helix form a language and this was worked out in the years after 1953 up until the 70s but in fact the way that the letters were arranged in a particular order encoded the basic units of proteins which are amino acids and amino acids string together to form proteins and proteins all life is made of or by proteins right so they worked out by the end of the 1970s and this is this is the the the doctrine the central dogma is what it's known as which everyone knows that DNA is a code and via the intermediate molecule RNA it makes protein and all life is made of or by protein Francis Crick called this the central dogma we don't really like the word dogma in science and in the 1970s he was asked why he named it the central dogma and his answer was that he didn't really know what the word dog moment which was unfortunate but it just shows that geniuses can be idiots anyway so that's a brief history of genetics that takes us up to the 1980s where we had really seriously begun to elucidate how biology works how life works we established effectively three grand unifying theories of biology which also the same thing now I there any physicists here none at all that's good I can make this joke now physicists have been trying to come up with a grand unifying theory of everything for about three thousand years and how are they getting on with that not that well in biology we managed to do it three times in the space of a hundred years and the first is evolution by natural selection by Darwin actually the first chronologically came a few years before that and it's called cell theory it's weirdly uncontroversial cell theory and it's weirdly not focused on when taught but I think in a slightly revisionist way it should be cell theory very clearly states two things which are universally true all life is made of cells and cells only ever come from existing cells with one exception which is the origin of life okay so this is this is just a universal rule and it's good to have universal rules because it means you can set up a framework from which you can conduct your next questions so that's - what was it natural selection cell theory oh yeah and the third one Universal genetics all living organisms all of those cells since Luca for the last four billion years have used exactly the same system to encode their proteins and to reproduce so you know we've got it by the end of the but by the end of 1970s we understood how all biology works except it turned out to be much more complicated than anyone anticipated the real reason that we do genetics or the real reason that genetics gets funded is so that we can begin to understand how human characteristics are passed on from generation to generation and particularly how disease is manifest in order that we might address those diseases so what began to happen in the 1980s once we understood the genetic code once we understood how DNA works once we understood how Mendelian inheritance worked we began to look for the genetic causes of various diseases and one of the first ones was so you know Woody Guthrie was the most famous focusing the most important focusing of the 20th century maybe Dylan well he died of Huntington's disease and Huntington's disease an incredibly penetrative disease it's devastating is inevitably always faithful but it is passed down in families in a very clear Mendelian way in exactly the same way that the eye color and fruit flies is passed from generation to generation and the same way that Mendel had established that the color of his peas or the ring cleanness of his peas of a leaf shape of his petals was passed from generation to generation the others that were just that were beginning to be discussed discovered in the late 80s was also due Shen muscular dystrophy and cystic fibrosis in 1986-87 and so you know we'd really begun to understand the genetic cause the underlying genetic cause the genes that actually bestow particular devastating diseases on people now during the late eighties into the 90s individual labs around the world were working on specific diseases that tended to be how people worked in genetics in those days you looked at a specific disease and tried to establish his underlying metabolic or physiological or genetic cause and so there was a sort of a sort of a gold rush towards trying to establish genes that cause specific disorders and then in in the mid 90s at the behest of people like john sulston and the Wellcome Trust he funded a lot of the research that was to come the Human Genome Project was set up probably the grandest endeavor in science yet certainly the grandest an endeavor in medical science and biological sciences maybe the Large Hadron Collider at CERN has now usurped it but an incredibly collaborative exciting multi lab multidisciplinary global project which basically said look you can have a bunch of money to work out the entire human genome to work out every single base pair every single gene in a human if you start working together and this was it's a great story about about how science progresses it really fundamentally changed the way we do science because science became much more collaborative at this point and some people argue that that is problematic and the grand endeavors like they saw not useful but that is what's happened instead of looking at individual diseases we look at the whole genome we try and establish a database in which we can fish through the human genome the three billion letters of DNA to look for behaviors and traits and characteristics phenotypes 2001 nature published the first draft of the public consortium of the human genome to great fanfare and it was a glorious day back in February 2001 I was still doing my PhD at this time but a year later I was I was working at nature as an editor and it was great fanfare and I don't whether any of you remember but just before they published it well actually six months before they published it Bill Clinton on stage with craig Venter who was the head of the private consortium standing next to or forgot his name the head of the public consortium whose name will come to be animated what no it wasn't Watson it was it'll come to me in a minute Watson stood down in 1996 for interesting reasons maybe he talked about that later anyway stood on stage was a big announcement Bill Clinton talks about the language of God the language of life reports at the time suggested that it would be a matter of months before we had established the cause of every genetic disease and possibly cured many of them all right that was said in 2000 in 2000 July 2000 the publication was in February 2001 actually the greatest thing the greatest reveal from the human genome project was effectively that we didn't really understand how genetics worked at all there were two big really interesting scientific conclusions that came out of it and the first is exemplified in a nice little story that I love telling which is the number of genes that a human has now we like to think that we are pretty sophisticated organisms I think that's not unreasonable at the time we were thinking about genes that relate to individual characteristics or diseases like Huntington's or Duchenne muscular dystrophy so the question one of the big questions was well how many genes do we have the number of genes that is going to correspond to every single characteristic that we had so guy called you and Bernie who's one of the great European genomicists head of the European bioinformatics Institute he was a PhD student at Cold Spring Harbor with Jim Watson at that time in the final year of his PhD and anyone who's ever been to a scientific conference knows of the best place to be at a scientific conference is in the bar right so after these these I can't believe you were reluctant to answer that everyone knows that that's just a fact after one of these meetings in the bar you and Bernie aged 21 or something went round with a betting book and he went rounds the world's greatest human geneticists and for $1 a bet asked them how many genes a human has okay this is that this is the front page of that book which is the definition of what a gene is and it's it's basically what are the rules which keep getting added to because geneticist can't even agree what a gene is but the basic premise was for $1 you predict how many genes a human has and six months later the answer would be revealed the highest number was something like 600,000 right and the lowest was 29,000 that was by a French guy and was an outlet a deliberate outlier you know like betting low lower than everyone else just in case but it was 29,000 in the range I think the average came out at something like 50 or 60,000 genes and the answer was does anyone know 21,000 right so all of the best geneticists on earth had massively overestimated how many genes a human has based on the assumption that one gene accounts for one characteristic and what this says is well we don't really know why we are the way we are based on our genetics alone we have fewer genes than rice this is Daphnia a water flea this is a tapeworm we have fewer genes than a banana and broadly we consider ourselves to be more sophisticated than bananas so it said to us well how does complexity add a sophistication such as a human emerge from fewer genes than an average bus has parts and the answer is we didn't really know the second thing that emerged from the human genome projects was that almost none of your genome is made up of genes about 97% of your genome is not genes so all of that DNA all of those beautiful chromosomes you see in those pictures you know those lovely beautiful X's almost all of that is not genes some of it is we could prefer to its non-coding sequences so here is a little breakdown of it so genes makes up that chunk here pseudogenes they're quite interesting they're things that used to be genes but have been there sort of evolving out of function huge chunks of just massive repeats a bits of DNA they're just repeated thousands and thousands of times with no apparent function unique non-coding well much of that is regulatory sequences for sequences that turn genes on and off and things like that and we do know about about those but also within that loads of chunks of stuff that we just have no idea what it was for so out of this the greatest scientific endeavor that had yet been attempted the result was basically we didn't understand genetics we thought we had the rules those grand unifying theories we thought that we understood inheritance we thought they were understood Mendelian genetics and we thought we understand understood the genetic code and in a sense we did it's just that humans turned out to be much more complicated than anyone anticipated now what that means is that when we the way we talk about genetics at school in general in families is not right it means that we are fed and culturally we talk about inheritance in particular ways which don't really correspond to what we've discovered as geneticists there are some trivial examples so it's school I was taught that eye color was dominantly inherited as was the ability to roll one's tongue right I like doing that because only in my only my dad and my family can't do it so when we were trying to annoy him we just go like this all right now it turns out that there is a genetic components being able to roll one's tongue but you can also learn it so if you if you only if you can't do it and you're really bored then then maybe you can teach yourself to roll your tongue it's slightly trivial and a great big waste of time I color is he is is there a classic example you have a gene which encodes brown eyes and blue eyes and brown eyes are dominant over blue eyes all right every child every school child knows that except there's another gene which is for green eyes and the penetrance the amount the significance of that gene that has on the phenotype the relationship between the genotype which is the DNA and the phenotype which is what it looks like is more complex than the way we're taught it and it is effectively impossible to predict the color of your children's eyes based on the color of your eyes in fact what we have is in a complete spectrum of eye color from incredibly pale you know sort of pastel blue which is common in Scandinavia to almost black where you can't really distinguish between the pupil and the iris and brown eye brown eyes are also common in annoy or common in noise and they are in Sweden so we have genes for particular traits that we once thought would have this direct Mende lien pattern of inheritance but turns out it was a little bit more complex than we originally thought there are plenty of genes that do have specific characteristics associated with them and here's a couple of examples as a form of pollard act here very rare form of politics see we have six fingers sometimes when I put that slide up it takes people a couple of seconds to work out what's wrong with it that's not right by the way and here is the example that I like giving the best does anyone know what that is it wasn't in the talk this morning that's earwax there is one gene which decides whether you have one of two types of earwax which are either wet or dry dry as very common in eastern Asians wet is common in Western and European populations but some you know this isn't exactly the dream of genetic engineering and designer babies that we once thought of you can predict the type of wax your child will have based on the type of earwax that you have there you go genetics so what actually happened then is this geneticists began to invent new ways of scanning genomes to look for how traits were passed from generation to generation and how they affect how they express themselves in populations and one of the ways we did that is by looking at what's known as genome-wide Association studies so what you do is you take a population of people who have a shared characteristic a disease or a trait or something and you scan their entire genome when you look for bits that are similar I and then you you infer that the bits that identify themselves as being similar in one group of people and not in another group may have a role in the phenotype that we're talking about now if we're talking about something like earwax or cystic fibrosis or something which has a strong monogenic characteristic to it you get a results graph that looks like something like this so these are the number of chromosomes at the bottom each one of these dots as an individual person and what we see is our massive peak here which says that's on chromosome 6 there is something which corresponds very closely with whatever we're looking at but these types of pictures this is called a Manhattan plot because they you know looks a bit like the skyline of Manhattan these types of pictures are relatively rare compared to complex disorders which are the interesting ones things like heart disease or neurological functions or mental health issues as they relate to genetics schizophrenia things like that you actually get plots which are you know just have met I mean an unbelievable mess an impenetrable mess we see hundreds of different small variants so things which are just a bit more significant than average and cumulatively they associate with a particular disease or complex trait and that is what the picture of genetics looks like well I think we're going to see more and more of is that human variation is going to be explained by the cute the accumulation of multiple many small variations between us rather than saying there is a gene for this what we are saying is there are dozens of genes which might be for this science is always more complex than we initially anticipate anyway now I that's that's a brief history of genetics and I'm a science communicator now I don't do research anymore much and so I I'm now interested in how we talk about genetics culturally how we report it now all scientists believe that their field is the one that is most misrepresented by the media everyone does I'm telling you it's genetics because I am both the gist and ER and a journalist so you can really happy if you argue with that that statement but you are wrong so when we look at complex traits when we look about how look at how they are talked about in the media when as they relate to genetics there is no more complex traits known than intelligence and we've known for a hundred years that there is a high degree of heritability to intelligence however you measure it there are many problems with looking at metrics like IQ but however you measure intelligence it is highly heritable and so headlines like this emerge when these ideas become into the public discourse as all science shirts and particularly when they enter political discourse I mean this this headline does betray that not this is not exactly what this guy who was the advisor the educational advisor to this guy Michael Gove who was the education secretary when this was in written in 2013 but there was a huge fury I don't know whether it made it across across the North Sea to you guys but the possibility that there was a significant genetic role to in something as complex and mysterious as intelligence and that that might have some impact on education policy was controversial to say the least this this is one example of the interaction between how we understand genetics or I guess how we don't understand genetics how we're trying to understand genetics and how it relates to public policy and how we talk about these incredibly important issues so what I've done is I've collected a few of my favorite headlines this this is a guy called HL Mencken who was the editor of the Baltimore Sun for many years decades and he was known as the sage of Baltimore is very good at coming out with pithy aphorisms and this is my favorite as this this one describes aptly the relationship between genetics and the media for every complicated problem there is a solution that is simple direct understandable and wrong so here's a fun game if you do genetics you go to Google and you type in scientists discover the gene for X and you get thousands of responses from every media outlet from the trivial to the very serious from the BBC where I work for Guardian where I work to the Sun tabloids it's just everywhere and this this is part of my arguments that for a hundred years we've been talking about specific characteristics in genetics genes for things and the answer is we now know that there are virtually no genes for anything and so when they get reported like this people like me go Oh God so I want this to be known as Rutherford's law for no reason other than vanity I want to have a legacy so if you could just promote the idea that this is Rutherford's law then please do that but here's a collection of some of my favorites that I picked out so Guardian I write for The Guardian frequently there scientists discover the gene for cocaine addiction there is no gene for cocaine addiction so scientists didn't I mean that's that's the general rule with this this kind of game well what it is is that scientists discover that one gene has a slightly raised association with people who have particular addictive personalities and who may be prone to taking cocaine there isn't a gene for cocaine addiction this one is from the Daily Mail which admittedly is not the greatest source of scientific accuracy known scientists discovered transsexual gene there isn't a gene for being transsexual it's difficult to imagine in a Darwinian sense how that would work here's another one from the Daily Mail gene that can scare you out of your mind here's one the gene that makes you lean to the left a gene that makes you politically liberal and a third one a love cheat gene a gene that it makes you prone to having adulterous Affairs the fun thing about those last three is that are actually all the same gene as well reported within the space of a few weeks of each other I just can you imagine having that particular phenotype where you're perpetually terrified liberal and unfaithful scientists discover the heighth gene this is a useful example from the V BBC now admittedly the copy of this article the text below it is more nuanced and explain some of the things I'm going to say but headlines really do matter I think this is a good example because height is a single measure right so we know that I am 5 foot 11 which these shoes on so that is a single number and so the idea that culturally transposed idea that there will be a gene that corresponds to that single measure is in grains it's culturally ingrained in us but if you think about it for more than about six seconds it's quite obvious that height is made up of many many different components and behavioral traits they which include relative body dimension sizes right obviously clearly how you were raised yeah the environmental stresses in utero in the womb the environmental stresses and availability of food as you're developing exercise all sorts of behavioral things are going to play a role in how tall you actually are in fact height is incredibly heritable the best predictor for the height of your children is simply the average between the two parents we do know that a component of height is is genetically determined but it's only a small proportion that we can account for so simply by thinking about this for not long and you're not complicated way without having to go to research papers of which there are many about genetics of heights you can simply see well you know when you see that you clearly think well that's not right and it can't be right this one eye Lord only knows what's going on there you know I don't think genetics has a great deal to say about whether you're going to get hit by a bus or eaten by a shark but apparently according to this article it does this one's quite an interesting case study this was a reported which is a gene called monoamine oxidase and mao-a as it is known in a very small what I consider to be an underpowered study a cert petition of this gene was associated with high risk taking behavior in city workers hedge fund managers those types of people and people with gambling addictions right it also was associated in a different version of it was was found to be associated with Mallory's music indigenous New Zealanders and for that reason it earned a nickname in the press which is really stuck which is the warrior gene right warrior as in wars I said this once in a talk and people thought I said warrior as in you worry about things but it's not that it's more it makes you warlike according to the press now that's all very well those studies were problematic in their own ways and for geneticists to analyze but it becomes a really non significant problem in 2009 2010 this is a guy called Bradley waldrop and in a year early Bradley will drop in his home in Tennessee after a day of heavy drinking and Bible reading waited for his wife and her friend to come home at which point he shot his wife and machete her to death and profoundly injured with a blunt instruments the friend now there was blood everywhere he it was premeditated we know that he left a message to his children saying say goodbye to your mom the Bible reading thing I didn't just mention that for a diggit christianity he wrote on his Bible this message so it was premeditated it decided to kill these two women and want one woman and severely injure the other so he was as guilty as hell and um he was charged with premeditated murder and he was sentenced to death and in a year later his lawyers having done genetic test for monoamine oxidase the warrior gene successfully argued that he had a particular genetic version a particular version of this gene which predisposed him to violent crime and as a result of that his sentence was changed from death to life now I am NOT an advocate of the death penalty at all but whatever your views on on corporal punishments so a capital punishment this is a decision which is based on misunderstanding how genetics works right the this this was a comment from one of the jurors a diagnosis is a diagnosis a bad gene is a bad gene there is no such thing as a bad gene right the punchline to this story is that one third of white men have exactly the same variance as Bradley waldrop does in this particular gene so you know in this room I know as two hundred people here probably half of you men most of you look whitish so a third of you carry the same genetic makeup as this guy who is a convicted murder so we've got to this stage this weird stage I mean this is this is a relatively rare example but it's important it's important there's a misunderstanding of how genetics works which is based on a whole history of being culturally programs misunderstand how genetics works back in the 19th century we had a phenomenon called phrenology where the shape of people's skulls was measured because it was as it was asserted and assumed that the shape of people's skulls would determine behaviors including criminal behaviors we now know that that is simply not true um another unfortunate example the Sandy Hook killings by Adam Lanza a couple years ago which was awful you know a complete tragedy all too common in America and of course you guys know about spree killings as well one of the first things that happened after Adam Lanza was after he killed himself and after this unfolded was it was declared by the local hospital that they would take his genome and sequence it in order to try and understand genetically what predisposed him towards this this awful wicked act could they find a gene for evil is how some of the press was reporting it there is no gene for evil there is no gene for spree killing there is nothing in Adam Lanza's DNA that will reveal anything that could account for his crimes and that that's important it's important to know that we've been doing it for many years these two guys are John Wayne Gacy and Peter Kurten who's known as the vampire of düsseldorf they're both serial killers Peter and John Wayne Gacy killed thirty three teenage boys kurtsyn kill was convicted of killing nine when it's thought it might have been up to sixty when they were executed their skulls and brains were taken in order they could analyze them to see if they were different from normal people and of course the answer was no human behavior is incredibly complex and incredibly difficult to unpick and is an interaction between your genetics and the environment in a way which is almost inscrutable not inscrutable because we can understand these things but they're never going to be answers to these complex on complex behavioral trades is going to be there is a gene for this you are not your genes and genes are not your destiny now all of that was very serious so I want to end on a slightly lighter note which is another way that we misunderstands genetics in a non-trivial but sort of annoying way more than anything else this was a this was a this was a headline this is a story that went around the world last year which was worth looking at this is a case study in science communication because that headline as far as I can ascertain there isn't a single sentiment in that headline which is accurate or justifiable and yet this was pretty standard so let's go I'm obviously I'm not a climate change scientist but I had a quick word with some climate change scientists to establish the accuracy of this headline in this story so the first sorry so the first thing is that gingers could become extinct well being being ginger is um it's caused by a mutation in a gene called mc1r and it's relatively rare is more common in scandinavian and scottish populations and we don't really know why there are a number of suggestions as to why it's frequency because it's recessive has been maintained in populations in the north but we don't really know why so as it's a recessive disorder sorry let me please need to edit that bit out as it is a recessive characteristic I mean it's not a disorder I mean is such a beautiful thing I mean that sincerely I don't know why that fell out of my mouth there's one because it's recessive right recessive characteristics are maintained within populations without expressing themselves and so the only way that ginger hair could become extinct is if every single person with either ginger hair so homozygous both carriers or every person who is a carrier of a ginger genotype were to not have sex ever again and I just don't see that happening I don't see that happening to the extent that when I wrote a criticism of this article in The Guardian I volunteered to have sex with ginger people if there was a threat that they actually would go extinct I did run it past my wife before I before I published this and I think I think she gave me the green light I mean you know the other thing is that there's no evidence that climate change is gonna is going to make Scotland more sunny and less cloudy and there's no evidence that ginger hair is an adaptation to cloudy conditions or any sort of weather conditions whatsoever so I'm afraid you know no marks for this as an exercise in science communication and no mark so everyone who published this story all around the world this as a case study is interesting because it says it was actually from a press release from a company who sells genetic geneology testing kits for about 150 pounds and the G the ginger gene testing kit was an add-on for I think 25 pounds to this to this service but just by some sneaky PR and good relations with the press and a story which is exciting to read that's simply not true the story becomes part of our culture again and that there we are there I prefer talking about what science can tell us rather than making jokes about why what it can't and I had my personal genome analyzed by a different company recently and guess what I've got the ginger gene and proud got a little patch here in my beard which actually says something quite interesting because I've spent my entire life I spent 40 years not thinking I was ginger until I started growing you know letting my beard grow and being slightly you know seeing ginger hairs I'm thinking well how you know how is that how is that and that shows something about genetics as well which is that even if you do have a recessive gene for a particular trait which we know how it works it still manages to do weird things and Express in one area of my face rather than on my head or on my body and it just shows again that we don't really know why that would happen we are really really complicated people um here's a nice thing as well this is a one of my favorite pieces of data visualization just you just coming to the end now which is it relates to how we think about how genes are passed on from generation to generation and we used to talk about bloodlines and saying things were in the blood and we now know that blood is not the carrier of hereditary information and that genes ah but we're very interested in own families and we're very interested in our own genealogies it turns out though that you are directly descended from people for whom you carry no DNA at all you can see that this on this beautiful diagram so if you imagine that this black semicircle here is you and that blues are maternal and yellows our pattern also this is your mother and this is your father and you have 50% of your DNA is inherited from your mother and 50% from your father now of course they have grandparents 1 2 3 4 and you they got 50% from their mothers and fathers and so on and so on and so on so grandparents grandparents great-grandparents great-great-great grandparents now by the time you get to this generation which is 5 out he'd be in see dark spots here and what they are is people from whom you are descended for whom you carry no DNA so they are your direct answer as you are their bloodline and you have no genetic relationship to them by the time you get to 11 generations back more than half of your direct ancestors had DNA that you do not have which is just you know that's I I find that kind of mesmerizing and bizarre it also completely makes sense as well because of the way we understand how genes are passed from parent to child but also because when we look at family trees there aren't enough there haven't been enough people on earth for this relationship to keep going back in time if you have two parents and four grandparents and eight great-grandparents and so on by the time you get to the 11th century there should be something like 1.3 trillion people on earth and of course that's not true we we estimate that the number of people and how you measure it that have ever existed is around 107 billion so every time you go back a generation it doubles the number of ancestors you have except it completely doesn't there comes a point when your family trees begin to fold in on themselves and they it becomes on a tree but a web or net and that's how we should think about family trees and inheritance when looking at this this sort of deep genealogy you know when do you have the program who do you think you are here it's a very popular program in there in the UK in the states where people trace their ancestry and they look through records to see if they were related to anyone famous and they love finding out that they're related to someone famous like you know the Duke of somewhere or some criminal and then they say well this is that that explains why I'm like this well that explains why I really want to live in a massive house well things things like that if you go back to the 10th century in Europe according to the statistics which are correct we believe all right you need a second to get your head around what I'm about to say right everyone alive in the 10th century in Europe who left ancestors who are alive today is the ancestor of everyone alive in Europe today ok so if you were alive in the tenth century and you have ancestors alive today they are your ancestors the pool from which our genes come in Europe is incredibly small what that means is that you are all maybe not you maybe not you are descended from Charlemagne directly I mean I can state this is a fact this is a fact all right you are you have royal lineage every single one of you so everyone is special which means that no one is special so next time you see someone saying well it turns out we did my family tree we did my genetics and I'm descended from French royalty from the 11th century you can say well so am i because everyone on earth is around about a 30th cousin sometimes do you get the equivalent if you go further east and say everyone is descended from Genghis Khan also completely true you're descended from Genghis Khan so II you I can't tell so you only have to go back another 3,000 years and you have a population from which everyone on earth is descended and that includes people in the far reaches and darkest Africa the far reaches of Australasia everyone is descended from the same group of people only about 3,000 years ago we're incredibly inbred this is my genome actually this is the analysis that I was talking about earlier which is it's a nice piece of data visualization as well it's an interesting thing to look at not just because it's interesting but also because it tells us something about what not genetics doesn't tell us and these are you know it's attractive to for people to do this cost about I don't know 200 quid or something and you get some data back like this which is kind of fun now in mic my mother is Indian and my father is from northeast England and that is shown almost perfectly in my genetic makeup I have a perfect 50/50 admixture of two separate populations which is incredibly predictable based on my parentage and kind of boring but nice to know so according to this graphic you know 50% of my DNA comes from the subcontinent and 50% comes from northern Europe broadly northern Europe even says broadly northern Europe a nice chunk of scandi there look at that yeah hi brothers it's important to recognize what this means as well this is something that isn't often talked about and talked about genetic genealogy which is that this does not show where I came from it doesn't show historical roots it does not show that I'm part Viking it does not show that I'm partly descended from the Mongols what it shows is the areas on earth where my bits of DNA occur most frequently today right that does not say that I understand it from Vikings it probably well I am descended from Vikings as we all are and not just I don't just I wouldn't I would say this to an audience not in the heart of Viking land but it's just a simple fact of the way populations work the way humans work is a phrase that I'm using in my book and in the articles I write about this quite a lot at the moment the problem with genetics is that humans are two things horny and mobile right so for the last million years we've been moving around and having as much sex as possible and that is reflected on charts like this I mean this one's pretty boring because it's so straightforward it's one interesting thing worth mentioning in this which is this tiny tiny sliver there which is Native American it's a very very small proportion but I like to that thought well that's interesting I you know how do you explain that and again it's a good story for explaining something about the way genetics works what it is in fact is that my mitochondrial DNA so we have our complete genome which has made up the chromosomes where you also have a separate bit of DNA which is a small loop which exists in ourselves which is only inherited down the maternal line it's a very small proportion of the total amount of DNA but quite useful my mitochondrial DNA is quite old so originated in India about 60,000 years ago now that date proceeds when people began to move my grave upwards and across the Bering Straits the Varangian people and come through what is now Alaska and down and populate the Americas so it doesn't show that I have Native American DNA it doesn't show that I'm you know related to Sitting Bull or anyone like that what it shows is that the common origins of Native Americans are shared a long time ago with people from whom I am descended so just be wary of these they're kind of interesting they're sort of trivially interesting I mean there's a lot of data enclosed within that I'm not sure it tells you anything other than trivial interesting things so be wary now I'm better finished right yeah I'm getting them not to finish I just want to end by saying one one final thing I've been quite critical of this field of genetics I've been quite critical of the way it's reported which is largely my responsibility and I've fought quite hard for the last ten years to try and get better genetics talked about in public that is my mission in life there is one field which has been utterly revolutionized by our understanding of genetics and that is paleoanthropology to the understanding of human origins and this is just this wonderful example so about five years ago a bone and subsequently a tooth were found in a cave in southern Siberia just near the border of China and Mongolia placing the old high mountains called Denisova this has been this cave was a rich source of archaeological remains for decades 50,000 articles have been pulled out of it with a time span ranging I think it's a hundred thousand years but this this bone came out that is the distal tip of a finger of a juvenile female now you can't categorize what type of juvenile female that came from based on one single finger bone we know it's a hominin but that's a group that includes all humans monkeys no not monkeys sorry gorillas chimpanzees and an orangutan that is not enough information to say what species that's from but in 2010 a group based in Germany managed to extract its entire genome from this single bone and what we found is that it was an entirely different human species that lived up to 30,000 years ago probably cohabited with Neanderthals probably cohabited with anatomically modern humans people like us but a species that we had no idea existed because it's archeological remains were non-existent but by looking at its DNA and comparing it to the DNA of other humans we knew that it was not Neanderthal and not us therefore something different that was 30,000 years ago last week a famous finds in a place called Atapuerca and southern Spain which we've known about for years was revised based on extracting the DNA from the bones there and places the origin of the Neanderthals hundreds of thousands of years earlier than we thought it was it also shows interbreeding so this was the big revelation it shows that Neanderthals interbred with humans I carry 2.7 percent of my genome is Neanderthal in descent sorry to point pick on you guys again but you guys probably don't have any Neanderthal DNA in you but you probably do have DNA from this the Denisovans because that's the distribution of how these genes float across the earth now we've talked for a century about Neanderthals not being the same species as us they have a different species named home and the end italic Homo neanderthalensis and we know of many other human species now that we didn't know of before I now believe that the whole concept of species is flawed and wrong and needs to be is desperately in need of of revision because if I carry DNA from any Anatole that means that the anna tells were my ancestors right so my ancestors as yours did successfully had sex with another species and produced offspring which would last for tens and hundreds of thousands of years and that according to classic species concepts is impossible so then the ant cells can't be a separate species from us or the whole concept of species is just wrong so you know this is a field where she's bee tipped off at the moment because of how we understand genetics and it's very exciting and pretty controversial and that's what my new book is about but it's not for another year and you come back in a year's time and you can buy it then that is all for me thank you very much Thanks good time questions yeah questions any questions you must have a one question I really don't want you've got a quick front row here do I have to think about being immortal the question was going what was the question you have to say about being immortal at all we're innocent we are immortal right we are all species are immortal because our genes are passed down from generation to generation by having kids you make you render yourself immortal you know you know Richard Dawkins his famous book The Selfish Gene in which he describes how the gene as the unit of selection he wanted to call that book the immortal gene but it was decided that the self-esteem was a better better title I kind of wish it was the immortal team because it does you know that is that is how that is what genetics is it is our our quest for immortality it's just it doesn't have the shortfall is the immortality never happens in our lifetimes so obviously you could not cover everything and you see you didn't touch epigenetics but you think that's where the reason for your ginger patch on their cheek kisser I am I have a little internal bet with myself that if I give a talk on genetics that someone will ask about epigenetics and thank you because I just won that bet I am extremely skeptical about how epigenetics is talked about it is a subject that we've known about for many years it used to be simply called gene regulation and if you don't know your epigenetics is a particular form of how we turn genes on and off and how genes interact with the environment there's one particular mechanism where the bits of DNA something weird happened there the bits of DNA well forget about that the bitters in a are tagged in a particular way with a very small molecule and that has the effect of silence in the gym it has the effect of switching that gene off and we know that it has a very non significant effect in the way that we interact with the environment it has become incredibly fashionable in the last few years in the press but also in science and science is prone to fashions and I believe that's the level of because it's fashion all the level of scrutiny applied to some of the studies that are emerging about epigenetics might not be as high as we would hope for a lot of the talk about epigenetics is that it's transgenerational that it passes not just from mother to child or father to son but also to grandchildren and on and theoretically that it is argued sometimes so that makes it non Darwinian it makes it more like sort of quasi Lamarckian right that you can acquire characteristics during your life where your parents can pass on characteristics they've been exposed to down the generations I do not believe there is any evidence to suggest that is true we have seen transgenerational epigenetic slashed for three or four G nations in mammals and no longer now the the unit of selection is the gene that gene has to be permanently transformed in order for it to be selectable so that makes it epigenetics and a non selective medium so I I don't think we have evidence for transgenerational epigenetics to being non Darwinian at the moment I also don't see any evidence that it is permanent so transgenerational is permanent and the third thing is calm what the third thing is in there's this and quite interesting human studies which are great stories but slightly incomplete one of them was the called The Hunger vinter so towards the end of the I got time for this yeah towards the end of the in October 1944 mostly out of seemingly out of spite more than anything else the Nazis withdrew were being pushed back out of Holland and decided to blockade a region and prevented any food from going in as as they retreated as the war was beginning to wind down as the Third Reich was being crushed so they blockaded this route this region of Holland and starvation ensued and so until the Allies came in in Easter 1945 in what was called Operation manor where they simply brought food but for a period of about six months that population in western Holland was subject to profound starvation now because it was in the modern era and because it was in a scientifically literate country those people have been studied intensely then and continue to be studied now as to the effects of what severe malnutrition has on human physiology I mean basically it was an experiment a quite a well-designed experiment that we could never do but was effectively done by the heinous cruelty of the Nazis many women were pregnant and became pregnant during that six-month period and we've studied those children 70s and we studied their children because they now have children now predictably their children suffered very high levels of a number of disorders including psychiatric mental health disorders but also thick complex things like obesity you know cardiovascular problems and so on and this was that's not that surprising what was surprising is that it seemed to be carried on to the next generation as well and that their children had higher frequency of of several disorders now that that is fascinating and demands more study and more understanding it isn't a clear-cut example of transgenerational epigenetic genetics the passing of acquired traits down the generations it is very interesting but it's one of those cases where you need to look at it very carefully I don't know whether you saw there's a headline about three weeks ago and in August that Holocaust survivors had passed on stress and trauma to their children and to their grandchildren did you anyone see that yeah it's I don't think that study was very good and I don't think it's necessarily true for complex reasons but I think that again it's an example of how the story is a little bit better than the mundane 'ti of actual science shout out speak up great the story is actually debunking it or wait wait for the mic because it's interesting well it's described and often post as an example of epigenetic inheritance and and the promise that epigenetic inheritance generational inheritance gives to medicine and everything but as you say the the evidence is very is very bad and not not conclusive well having not seen that that does sounds to me like something which is probably not correct which is which is unfortunate because we we try to tell stories that are right and are also good stories there's another transgenerational study which is based in in överkalix and sweden I may have mispronounced that which is a similar sort of thing where due to fluctuations in crop availability and I won't be able to remember the details right now but I use something like children exam children exposed to starvation one year and rich years the next year had different something different about them to do with weight compared to ones who didn't didn't have that pattern and it was also different and reversed in boys and girls as well so again one of those things that you look out and go well that if that it a is that real that's the first question you should ask when you make those observations if it is real then that's extraordinary and very interesting and but you know the phrase we sometimes use in the skeptical world is extraordinary claims require extraordinary evidence and for any of these studies I don't think we yet have extraordinary evidence even if they are true it doesn't mean they're non Darwinian if it were true and we could show a permanent change that had been acquired as a result of epigenetics it would still make up only a minuscule proportion of the amount of genetic information we have which is transferred from generation to generation in a way that we've understood for 50 years so you know I am I am as a sceptic about the significance of epigenetics compared to processes that we already understand that's not to say that epigenetics is no important it is but it's I think be wary of of exceptional claims thank you all for coming and thank you Adam for a great talk so we are moving up again we have a course in science communication but we all welcome you back on Thursday for a talk information designer Andrew Angela Morelli she will give a talk about how to use information design in research
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Channel: UiO Realfagsbiblioteket
Views: 141,169
Rating: 4.4683814 out of 5
Keywords: Adam Rutherford, Genetics (Field Of Study)
Id: GNER3M20WnU
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Length: 72min 1sec (4321 seconds)
Published: Tue Sep 15 2015
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