As someone who has undergone extensive genetic testing, we’re still in the dark ages of medicine. We basically know nothing at all about jack.
The vast majority of what we do is just trying to get the body to a spot where it can manage the issue itself because we don’t have the means to do it ourselves.
Personalized medicine is the frontier that everyone has been trying to break into since the race to decode the human genome. What a lot of people don’t realize is that for every drug that goes to market there are thousands of promising candidates that are shelved due to a small population of adverse effects.
Now imagine what we can do if we can screen for those effects. Overnight the market would be flooded with powerful, effective medications with much fewer side effects. And that’s just medical drugs.
Personalized medicine is going to be much more of a political problem than a technical one, at least in my country. We have a hard enough time screening for things like cancer and diabetes.
As someone with chronic issues, the amount of timed doctors just shrug and give up is kinda high.
Thats what I like House M.D. though, because it’s basically a Sherlock show, there’s always an answer. Unlike in real life, where they just send you home without actually figuring things out. I’ve had like 8 seizures in the last 10 years and still the best I’ve got it “idk, MRI seemed clear” and that’s all.
There was a similar case of a woman who absorbed her twin brother in the womb. Only a small patch of cheek had her brothers DNA, but that is exactly where DNA is taken from when they want to take a DNA sample. This was discovered when she took a DNA test which came up as male.
I’m shocked to learn that this isn’t a joke about Greek mythology I didn’t get.
I think there was a similar case, but about the mother. The courts took her baby and she was on trial for kidnapping.
Eventually a geneticists saw it on the news and suggested she got tested again using DNA samples from other parts of her body and they found out she also was a chimera.
Some racism was involved as she was working class and black, so the courts were just looking for a reason to take her baby and throw her ass in jail…
Yes, it was the case of Lydia Fairchild
From Wikipedia
Fairchild stood accused of fraud by either claiming benefits for other people’s children, or taking part in a surrogacy scam, and records of her prior births were put similarly in doubt. Prosecutors called for her two children to be taken away from her, believing them not to be hers. As time came for her to give birth to her third child, the judge ordered that an observer be present at the birth, ensure that blood samples were immediately taken from both the child and Fairchild, and be available to testify. Two weeks later, DNA tests seemed to indicate that she was also not the mother of that child.
A breakthrough came when her defense attorney,[1] Alan Tindell, learned of Karen Keegan, a chimeric woman in Boston, and suggested a similar possibility for Fairchild and then introduced an article in the New England Journal of Medicine about Keegan.[2][3] He realized that Fairchild’s case might also be caused by chimerism. As in Keegan’s case, DNA samples were taken from members of the extended family. The DNA of Fairchild’s children matched that of Fairchild’s mother to the extent expected of a grandmother. They also found that, although the DNA in Fairchild’s skin and hair did not match her children’s, the DNA from a cervical smear test did match. Fairchild was carrying two different sets of DNA, the defining characteristic of chimerism.
Some racism was involved
Not surprised after reading the first paragraph
I remember that one, it was the first time I heard of this scenario. It really sucks for folks involved, but it is kind of interesting too.
You’d think they’d change DNA test methodologies so this sort of thing doesn’t happen again
It’s rare enough for them not to give a fuck. especially since it’ll only hurt poor people who cant afford a genetic consultant
I think they are saying this dude is so cuck that he is raising his wife and non-existent brothers child.
Biology is complicated. Never forget when you try to make an argument based on it.
𝘣𝘜𝘵 𝘪𝘛’𝘚 𝘉𝘢𝘚𝘪𝘊 𝘉𝘪𝘖𝘭𝘖𝘨𝘠! is always said about how trans people can’t be trans.
I mean, 2+2 is just basic math but quantum physics is a little more complicated than basic math. Biology tends to get more complicated when you pass Grade 2.
The issue with that comparison is that math is constructed from pure logic based on axioms, whereas the real world just is and our mental models can always only approximate reality.
So basic math still applies at any higher level, whereas basic biology is contextualized by the exceptions and limitations pointed out by advanced biology.
Apparently this is more common with cats. If you see a cat with two different coat patterns, either divided down the middle or along the neck (as if they only had spare parts left at the cat factory), they may also be a chimera.
Venus!!! I love Venus. She long predates AI for the curious. She’s an ig celeb.
I saw this one too the other day on the other site, I think.
Half scraggle muffin, half had enough of your shit.
Cool looking cat. I wants one
“I’m not black! I’m a tabby, like you officer!”
I wonder… is this more common in all animals that have average litter size >= 2? Or is there something else special to cats that explains this phenomenon?
In-utero growth rate + chromosome counts play a big role. I admit, ashamedly, that I have largely forgotten the reason they matter, but they do.
Source, trust me bro
“Source, trust me bro”
Seems legit to me. I trust you as an authoritative source on the subject.
Half and half chimera is just the more unique variant, iirc, at least for humans. The more common type would just look splotchy if the different parts even happen to color differently. The patterns usually follow Blaschko’s lines but don’t have to.
There are also more basic forms where people will just have certain body parts with different DNA, like an extra blood type or other less consequential things.
Whoa, that’s crazy. It’s basically like having two cats in one!
Why does this make DNA scary? I think it’s awesome that our understanding of DNA makes us able to unravel things like this.
Imagine your dead twin using your penis to impregnate your wife with his DNA.
“You may have defeated me in the womb brother, but I impregnated your wife. I win.”
The child is then born, gets to around 18 years old and challenges the father to a boxing match:
“Brother, it is me, beyond the grave! I have come to reclaim my rightful place in the world, and seek my vengeance!”
Go Team Venture!
Yeah, I get it. Chimerism is scary, but not DNA
I would say that he’s not really dead, his consciousness has taken shelter in some dark cranny of his mind, and slips out to cause trouble now and then.
It’s like if that carnie episode of X-Files had been on Cinemax at 3am
Imagine you are le innocent wife, but your son does not have your father’s DNA
Can’t even trust a brother you ate in utero
her eggs were cheating
Nah, his sperm was unfaithful
That means every time that guy has masturbated in his life he was really jerking off his dead brother.
I’m pretty sure he was jacking himself off, powered by his brother’s testosterone, and ejaculating brother jizz
We need more data! The guy needs to flog his donkey for science and the good of humanity.
Hey now his brother has never been more alive.
The brothers ghost, after cucking him for revenge:
Ultimate cuck
but why would you assume he’s one brother or the other? he’s both brothers simultaneously, and neither, like Tuvix.
Tuvix was a blend of both, not parts of each. Chimeras end up having different DNA in different parts of their body but due to close enough biological relation there isn’t organ rejection.
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There was a woman who went to prison for this, her chimera baby’s dna contradicted her story, I think to get public assistance of some kind, and the dna test convinced the state assholes she was lying and they sent her to prison, I think some researchers exonerated her eventually.
Are you thinking of Lydia Fairchild? In her case she wasn’t sent to prison. However, her two children were taken from her and placed in foster care. Lawyers had refused to represent her at first, due to the belief that DNA evidence is too strong to fight. On the plus side, she became pregnant again. So a court officer was present during her third child’s birth.
Despite being at the birth and witnessing blood draws from both mother and child, the court still claimed she was being untruthful somehow. Thankfully, that birth and its evidence were peculiar enough to attract a lawyer to finally represent her. Only after that did the investigation into potential chimerism arise.
More info here - https://embryo.asu.edu/pages/case-lydia-fairchild-and-her-chimerism-2002
Might be I just heard it on a podcast, Poor Historians, Misadventures in Medical History, and I may have gotten the story wrong.
Why are they assholes? Because they didn’t know about chimeras?
Because they don’t know the limits of their tools and were convinced they’re infallible, and as a result an innocent woman was punished by the state. Just a guess.
Nobody knows the limit of their tools until those limits are known. Where did you decide they thought they were infallible? They followed the law they have, as is their job. Justice is not perfect, we don’t have all the answers, jumping to such vicious conclusions speaks more about you than them. The entire incident, and her successful appeal after further investigation, was like a year. Nobody threw the woman into prison for a decade or something. Seriously, people are so reactionary.
Nobody knows the limit
I’m not sure, but let’s say that’s true. They usually also don’t care to know the limits. Another interesting case is Patricia Stallings (emphasis mine):
an American woman who was wrongfully convicted of murder after the death of her son Ryan on September 7, 1989. Because testing seemed to indicate an elevated level of ethylene glycol in Ryan’s blood, authorities suspected antifreeze poisoning, and arrested Stallings the next day. She was convicted of murder in early 1991, and sentenced to life in prison.
Stallings gave birth to another child while incarcerated awaiting trial; this next child was diagnosed with methylmalonic acidemia (MMA), a rare genetic disorder that can mimic antifreeze poisoning. Prosecutors initially did not believe that the sibling’s diagnosis had anything to do with Ryan’s case. Stallings’ lawyer was forbidden from producing available evidence as proof of the possibility. After a professor in biochemistry and molecular biology had some of Ryan’s blood samples tested, he was able to prove that the child had also died from MMA, and not from ethylene glycol poisoning.
One incident does not prove another.
That kinda depends on the circumstances, but I’ll try to stop arguing after this reply
Respect the self control.
I mean unless they proved she was not providing for the kid I think they’re assholes. But I shouldn’t assume
If the state has good reason to believe someone had abducted children, I would want them to intervene, would you not?
If no one is missing those children, that’s not good reason to believe she kidnapped them at all. I want the children to be happy, and regardless of genetics taking them from the parents that raised them into a foster home will just damage them (unless parents are just very abusive)
There are plenty of missing children, of all kinds of ages that went missing at all kind of times. So yes, they could have been. What was known of the situation more than justified taking some kind of action on behalf of the children, incase they were not hers.
The last time I did a deep dive on the research, they estimated somewhere around 3% of the population had some form of chimerism, and I calculated my personal chances around 6%. And then I did some family research and anecdotal evidence pushed that number much higher, including being a single born twin.
One of the articles I recall postulated the number is much higher than 3% due to the condition only being confirmed or discovered through rare circumstances that result in multiple genetic testing.
Another fun-ish, kinda fucked up, weird story… There’s a woman, Henrietta Lacks, who had a biopsy for her cervical cancer in January of 1951 before passing in October of that year. These cells were found to be incredibly resilient and quick to replicate. Most cells only lasted a few days before dying, but hers seemed to be functionally immortal under controlled lab conditions.
So, unbeknownst to her as consent wasnt required for such things at the time, her cancer cells were cultured and grown into large samples to be used in research. Those samples were split off and passed off to other labs. They’ve since spread around the entire world for a ton of research and commercial purposes.
They were used in the development of the polio vaccine, for example, as well as having been used in research on cancer (obviously), AIDS, the effects of radiation and toxic materials, gene mapping, etc. They are used to test safety of cosmetics as well. Approximately 11,000 patents involve these specific cancer cells.
In the 1970s, there was an incident where these cells contaminated other cell cultures, so the researchers needed DNA samples from the Henrietta’s family to differentiate her cells from the others. This is the first time anyone in her family learned that her cells had been used in research at all, let alone that her cells were being cloned and used in research and commercial product development across the entire world. It became a legal issue after this, and after a couple decades of litigation, it made it to the Supreme Court of California where they ruled that “discarded biological materials” is no longer ones property and could be commercialized freely. They continue to occasionally fight against aspects of her cells’ usage, and there are health privacy concerns for her family as well, but results have been mixed for them.
Henrietta the person died in 1951 at age 31, but her immortal cancer cells which still contain her full DNA sequence continue to live to this day, 75 years later. One source claims that as much as 50 million metric tons of tissue has been generated from these cells.
HeLa is extremely interesting, but still requires humans to cultivate her cells.
Canine transmissible venereal tumor however, is an immortal, contagious dog tumor from a dog thousands of years ago that evolved into its own lifeform - a sexually transmitted parasitic cancer - that has continued to this day to spread from host to host. Yet, genetically, it is still “dog”.
Anyway, this is my answer when the job interviewer asks me about long-term goals.
In the 1970s, there was an incident where these cells contaminated other cell cultures, so the researchers needed DNA samples from the Henrietta’s family to differentiate her cells from the others.
I don’t understand. First, what was the point? I doubt there was a way to split the sample attacked by a cancer cells, they probably weren’t going to recalibrate the transporter and untuvix them.
Second, weren’t there thousands of the copies of the sample? Why wouldn’t they compare it to one of them, instead of bothering the family?
That confused me as well. The stuff I read didn’t elaborate on how that would help.
They detected allozymes (differences in proteins) by electrophoresis in the 1970’s.
This could tell the difference between species and maybe if they were lucky large family groups. It wasn’t as exact as using DNA.
I worked with HeLa cells as a molecular biology student. The ethics weren’t a great look, and I’m happy that today there has to be informed consent for stuff like that.
Without having an immortalized cell line like this genetics would have taken even longer to get going tho, and she’s actually one of the few people whose genes will be preserved for near eternity. Creepy, but it’s closer to actual immortality than any of us will ever be.
To add that the general understanding of how DNA works and is used can be scary, just like other measurements. I bet there’s still a lot of people that believe fingerprint analysis is some kind of rock solid science based evidence, but my understanding is that it’s very much prone to errors and interpretation.
I don’t mean to say that DNA analysis suffers the same flaws, just trying to illustrate with an example.
I hate the generalized concept of “AI”, but I love the concept of “Machine Learning”
If you think LLMs are good at anything, I am almost 100% certain to disagree with you about pretty much everything, to help you understand this distinction.
Anyhow, some computer scientists found that a machine learning algorithm could predict beyond a null hypothesis that A fingerprint belonged to a person given a different fingerprint (different finger but still same person)
“Criminology” expers were just like “no, it’s settled science”
This is the state of discourse.
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why do I even feel the compulsion to preface by saying my bit about ai and llms?
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how tf is “settled science” even a concept in a science
I get a similar vibe from psychology. There’s a number of “experts” that are out in the field, doing the hard work day after day, putting in those hours… And hopelessly blinded by their own confirmation bias and survivorship bias. Clinical therapists in surveys prove very willing to overlook strong research in support of certain methods because they believe they see results in their clinical work that can’t be reproduced in a lab.
Then each field also has a research wing, slowly carving a path towards useful ideas, expending tremendous effort for each new finding, method, and result (even negative results!).
Psychology has been going through the replication crisis for some years now.
https://en.wikipedia.org/wiki/Replication_crisis
TLDR: half of what you ever heard about psychology is false, they are working on figuring out which half it is. But there is not as much promotion on this as the initial false claims.
If you think LLMs are good at anything, I am almost 100% certain to disagree with you about pretty much everything, to help you understand this distinction.
Depends on what you mean by “anything.” The current obsession in the tech world of trying to shove LLMs into the AGI box? Yeah, not a good fit. Pure language stuff like translation or brainstorming? Very useful. LLMs now even surpass DeepL.
why do I even feel the compulsion to preface by saying my bit about ai and llms?
I have a similar compulsion to clarify that my interest in LLMs centers mainly around local open-source models that can run on consumer hardware.
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Same with bite mark analysis, polygraph, and bullet/gun rifling matching. CSI, Law and Order, etc. all have convinced people these things are just the pinnacle of evidence.
At the end of the day, nothing is really beyond any doubt. Witnesses can imagine things, cops can be bribed, judges can have a newborn kid and maybe slept 3h last night
I’m a data analyst at a medical nonprofit, primarily doing analyses on germline variants for rare forms of cancer. I’m new to this kind of work, but had a decent educational background in biology.
Something I’ve learned is that genetics are complicated as hell. A single gene can produce multiple different proteins, and proteins change over time due to somatic variation. Only 1% of the genome are protein coding, called exomes. Exomes can be affected by variations to start and stop codons, non coding regions, and untranslated regions. There are entire fields dedicated to studying genome-wide, exomics, transcriptomics, proteomics, phenomics, and probably several others that I don’t know about. The amount of data involved with these fields is in the tebibytes region. Have you ever seen a “small” 3GiB csv? I have. The filtered and cleaned data frames created by genetics are over 100 columns wide and have nearly 5 million entries.
There are companies creating artificial life by generating custom chromosomes. There’s a whole field of computer science dedicated to biological computing, using DNA as a storage medium. There are companies dedicated to simply classifying genes.
DNA is cool as hell.
If you really want to blow your mind, look into the theoretical alternatives to DNA. we are all taught about RNA and how it is a precursor to DNA, but what if it went another way? Look up PNA, PNA-O, or even GNA. If life existed on other worlds, there is a decent chance it follows an xNA structure, but not necessarily DNA.
There are companies creating artificial life by generating custom chromosomes.
My dude, not a fun thing to think about who might have control over that. Is it a musk, zuck, cook or epstein?
No, none of those guys are involved afaik. The one that made the first breakthrough in artificial life is ran by the same dude who competed with the Human Genome Project to map 99% of the human genome. They modified an extremely simple bacteria that only had something like 300 base pairs
We still don’t know what type of person they are. Them being smart and focused on the research, doesn’t give them a pass. They could even not care who else has the info.
Yup. Many Nazi scientists only cared about the research. A lot of medical and physics breakthroughs last century directly resulted from those experiments.
Like what?
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Pervitin was an early form of methamphetamine, in large use by the Nazi military. Kept soldiers awake and alert and minimized appetite to stretch rations. Research around it and similar things helped further addiction and psychological distress.
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Elektroboot was the first electric submarine able to stay submerged for large lengths of time without needing to vent things like diesel exhaust. Even being able to charge while submerged.
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The Intramedullary Rod, an essential part of modern orthopedic surgery to heal broken bones.
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The Horton Ho 229 was an early attempt at stealth and flying wing aircraft. While never fully produced, the development led to further research after resulting in modern stealth aircraft and overall aircraft efficiency, and by extension detection and tracking.
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The Enigma Machine was a marvel of cryptographic security. Pretty sure this stands on its own.
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Messerschmitt Me 262 was the first mass produced fighter jet. Much of even modern jet propulsion technology stemmed from this research.
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3D Films were used to enhance their propaganda well before Hollywood considered it.
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The Z4 Computer was one of the earliest commercial digital computers.
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Of course the V2 rocket. And by extension every Project Paperclip scientist brought back to the US to develop space technology at NASA, up to and including the Saturn V rocket and Apollo missions.
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The jerrycan, for fuel transport. Literally named after the British slang for German soldiers. So useful the Allies adopted it during the war.
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Chloroquine, an anti-Malaria drug developed by the Nazis, initially toxic but further refined after the war.
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Night vision technology also had massive developments made by their military scientists.
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Interesting, could you enlighten what types if data is in those 100 columns? I’m aware of ATGC and thought it would be just one column, but maybe the rest are some that indicate intensity or activity. Or what sequence they are part of.
Well it varies depending on what the file is meant for. Usually there’s columns like chromosome, variant position, reference nucleotide, observed nucleotide, type of variation, codon sequence, gene name, etc.
There’s also columns that result from various analyses. In the file I’ve been working on lately, there are columns such as variant impact, level of confidence, pathogenicity, clinical significance, etc.
That sounds like a marker file. It’s a bit different than a sequence file.
Molecular markers are linked to specific sequences in the DNA. These markers are generally close by or in the gene of interest. All the extra columns described its characteristics and results. Anyplace in the entire genome where there is one nucleotide difference (polymorphic) can be another marker. There’s millions of these and they add up to massive files.
A sequence file is basically just a long boring sequence of nucleotides and are not that large. Now some of the files you use to generate the sequence. Let’s just say they had to wait almost 20 years for computers to get fast enough to process those files in a reasonable time. Those make the marker files look like childs play.
I’m not familiar with the name of the file I’m currently working with tbh. It’s used to create the annotation files for regenie analyses. It has every variant for every gene within the biobank. There’s far more than just missense; there are stop/start gain/loss, splice donor/acceptor, frameshifts, and ptv. It contains primateAI scores, spliceAI scores, cava data, clinvar data, and more.
Sweet, thanks for the reply. I didn’t expect to fully understand what they would contain but I got the idea.
There’s a Japanese artist Ryoji Ikeda who you might like, he has visualised DNA and all sorts of data. I like his data.gram exhibition’s style the most esthetically amusing and he has published some albums too.
https://www.taronasugallery.com/en/exhibitions/ryoji-ikeda「data-gram」/
I have no context/knowledge on topic. Are you saying DNA has that much data that can be extracted from it? If so, that’s nuts.
yes, all that data is extrapolated directly from DNA. It’s a huge amount of information. All the DNA in a single human cell is directly translated to about 750MiB. Now, add in the fact that genomic studies use biobanks, like the UK Biobank, which contains the genetic info of hundreds of thousands of people. The data we can extrapolate from DNA is absolutely massive.
We have 3/4 of a GB of data in every cell? I need to read more into this. Wish I’d bothered with biology at school. 😂
That’s too much science. We, as a people, need less sci- wait, no. No, no. Uh - We need bett-er? Science? Hmm.
Look just make it an animated cartoon with fun music for now and we’ll circle back.
