Industrious Dad Finds the Genetic Culprit To His Daughters Mysterious Disease 204
First time accepted submitter bmahersciwriter writes "Hugh Rienhoff has searched for more than a decade for the cause of a mysterious constellation of clinical features in his daugther Bea: skinny legs, curled fingers and always the specter that she might have a high risk of cardiovascular complications. He even bought second hand lab equipment to prepare some of her genes for sequencing in his basement. Now, he has an answer."
Origin (Score:4, Funny)
Alas, this kind of origin story is less suited to a superhero, more suited to a supervillain.
Good to see people bucking the trope.
Re:Origin (Score:5, Interesting)
If this was in a comic universe, that'd be the obvious outcome: Bio-tinkerer dad is working on a treatment, long-delayed by red tape, protesters and activists attacking his lab for the use of animal testing. When his daughter's heart starts to fail he becomes desperate to cure her before she dies. Short on time tests his prototype serum on the closest biological relative to hand - himself. The treatment grants him the opposite of her symptoms: Great strength and incredible powers of regeneration. As he rushes to hospital he arrives at her room moments after she dies, syringe in hand. Quickly prosecuted for his unauthorised genetic experimentation and unlicensed human testing, he escapes to become BioDad: Doctor on the run, medical consultant for the villain population, stealing supplies as he goes for his last desire: To exact revenge upon those who slowed down the march of science, and cost his daughter her life.
Re:Origin (Score:5, Funny)
reminds me of that dude that created the t-virus to cure his daughter... and instead created... Milla Jovovich... fucking genius!
Re:Origin (Score:5, Funny)
I just like the idea of a villain who goes around infecting alternative medicine advocates with terrible but treatable diseases, forcing them to either demonstrate their lack of confidence by seeking conventional medical help or demonstrate how ineffective their quackery is by depending upon it and dying.
Re:Origin (Score:5, Informative)
Whenever I see a serious advocate of alternative-only medicine and vegan diets for treating/preventing terrible or even terminal illness, I point to the highest-profile example and how that did not work for him: Steve Jobs. What a damn waste--he had a type of pancreatic cancer that 95% of victims they had, i.e. the treatable, survivable kind of pancreatic cancer, and he squandered his luck by delaying conventional treatment for almost a year.
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Andy Kaufman also.
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Upon rereading, I realize you were responding to the "serious advocate of alternative-only medicine and vegan diets for treating/preventing terrible or even terminal illness" part...
However, at first it seemed like you were giving another example of pancreatic cancer.
Just to be clear, Kaufman died (or did he?? just kidding) of a form of lung cancer, despite not smoking.
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he had a type of pancreatic cancer that 95% of victims wish they had, i.e. the treatable, survivable kind of pancreatic cancer
Fixed that for me... sigh...
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Why are you unable to respect _his_ decision?
Simply because the outcome isn't what _you_ wanted??
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This has zip to do with respecting his decision. He is quite simply a perfect example that despite being 100% committed to his diet and lifestyle, he *still* got cancer, and afterwards did *not* cure him. This flies in the face of those who claim a certain diet or lifestyle choices is far more effective at protecting you from diseases. Most undoubtedly help improve your chances, but take it to extremes (like refusing any modern medical treatment or drugs) at your own peril... or at your dependents' peril [abc.net.au]).
T
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Don't forget the Beastie Boy that did the same thing. He was a vegan and tried alternative medicine before seeing a real doctor.
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The hell you on about? The guy said nothing about prevention.
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Dammit, a key word got deleted during editing. Most got it from context I think, but it definitely should have read:
he had a type of pancreatic cancer that 95% of victims wish they had, i.e. the treatable, survivable kind of pancreatic cancer
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The Whipple operation didn't save Dick Wilson http://www.youtube.com/watch?v=nbOuv2CipFE [youtube.com]
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Or maybe we could infect politicians on the take from pharma companies with deadly diseases so the R&D departments would have to actually work on cures for diseases instead of drugs that alleviate symptoms while adding nasty side effects.
I think the pharma companies would love that! They can bribe the politicians with free medication that they will be dependent on. They'll also want tax breaks to increase research and development on better versions that have less side effects. But cures will still be rare. They make more money being drug dealers to a continuously increasing market.
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Stan Lee, is that you?
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I'd have gone with Osamu Tezuka, but I guess Stan Lee could do in a pinch.
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Just FYI, I would watch that movie.
Re:Origin (Score:4, Funny)
Re:Origin (Score:5, Interesting)
The problem is that science fiction and other forms of literature, including comic books often have a heavy anti-science, reactionary attitude. Look at the most egregious examples- things like the rebooted Outer Limits where almost every episode was of the form "scientists makes new discovery, something goes drastically wrong in a marginally related way which shows how bad humanity's hubris is." And it connects to another issue: supervillains are active, while superheros are generally passive. The Joker goes to poison Gotham, and Batman stops him, and look at how many villains are geniuses, Brainiac, Lex Luthor, Doc Oc are but three of the more well-known ones, while the heroes are often superstrong people who punch really hard (remind me again why nerds actually like this genre)? And when there is a genius on the side of "good" it is someone like Richard Reed who despite brilliance has done nothing at all to better the lives of the everyday person.
Let's look at another example. Suppose there were a billionaire who made his money making crappy products and pushing those products on people. Suppose that man decided to then dedicate his life to wiping out a series of specific species completely from their native environments. Sounds like a supervillain, right? Well, that man is Bill Gates, and the species in question are the four species of malaria.
Bottom line, if one wants to actually help the world, don't think like a superhero. Think like a supervillain.
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Are you trying to argue that there's a specific subgenre of scif that is the only "real Science Fiction"? Because that sounds pretty close to a No True Scotsman situation.
Yes. Written Science Fiction. All else is SyFy.
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The "anti-science, reactionary attitude" must be a part of human nature. Early examples include Icarus, Prometheus, the biblical story of the Tower of Babel, etc. We seems to love cautionary tales, and somehow an achievement or advancement based on science or engineering (sometimes indistinguishable from magic) is at the heart of many of them. They stem from asking, "What if someone could do this, or have this power?" For some reason, thoughts turn negative such that the outcome must be bad, because it can'
Fools, all of you! (Score:3)
The updated version is in Ghostbusters, where the Ghostbusters have been riding around in their salvaged ambulance rounding up ghosts in reponse to calls from worried property owners, and they have these ghosts confined in their "confinement grid" inside the one-time firehouse that they have converted into their place of business/headquarters.
The "anal reten
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I think you missed the point of the "Outer Limits".
See, if you are mean to the aliens, it turns out they were nice but you've blown it and now you are screwed.
So you should be nice to aliens, except when you are it turns out they were mean and you've blown it and now you are screwed.
Pretty much whatever answer you choose, you lose (oh, sorry, you "loose").
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IMHO, the problem is not so much that the villains are active and the heroes are passive. Nor is the problem that the writers are anti-science reactionaries (most of the times).
The actual problem is that the writers need to come up with a story, and the story needs to fit the genre.
For example, in the Marvel universe, teleportation is common enough that SHIELD agents can use it. (Or at least they could in one comic I saw. For all I know, an infinite crisis war could have rebooted the entire universe and
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This is a tautology; everyone already knows Bill Gates is a super-villain.
And like most power-mad supe
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Then WWI and WW2 happened. Chemical weapons, eugenics, genocide, nuclear weapons, all of these horrible uses of advanced technology caused a tremendous amount of fear in people. The romantic era
Phenotipyc variance (Score:4, Interesting)
With technology becoming cheaper and easier to use, from genetic lab equipment to computers I guess we will discover that various individuals diverge from the otherwise "normal" genetic make-up.
We might find the tolerance for faults in the genetic mechanism is higher than previously thought and features such as big eyes, long fingers,big hips, small breasts etc will start to be pinpointed to a single gene, protein or step malfunctioning and producing (semi)benign traits.
The line between benign and malign variance will be very blurry.
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There was a science fiction story about what happened when it became possible to screen for the "gay" gene, and that screening was expected to lead to the extinction of homosexuality.
We'd better think about this stuff before it becomes possible.
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Why worry about that? Now that homosexuality is acceptable and they can marry, they will not be accidentally "contaminating" the heterosexual gene pool (Oscar Wilde had 3 children with his wife, England's Edward II had 4 legitimate and at least 1 illegitimate offspring; both were notoriously homosexual according to history), and any genes which lead to likely homosexuals will quickly breed themselves out (or unbreed themselves, or however you describe it). Soon, only the genes which lead to somewhat higher
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This happens occasionally in animal breeding. Blue eyes in a white-furred cat has a high chance of indicating deafness.
That being said, however, the definition of "proper" biochemical function is relative, so you can't really say that a developmental gene that produces healthy results is really malfunctioning. A lot of subtle differences between people are caused by changes in how long or how tightly two proteins interact. You could call the European light skin phenotype evidence of a defective gene, becaus
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I never said that THOSE traits were malfunctions, read again.
But you had to be a smart-ass, didn't you?
I wonder what gene made you do that... Was it passed on by your mother or was that just bad education from her part?
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I've read it a dozen times and I still don't see a different meaning. At best you called them semi-benign traits.
All of those traits are desired by somebody out there so I'd say it was just natural selection doing its job, no need to 'correct' anything.
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big eyes, long fingers,big hips, small breasts etc will start to be pinpointed to a single gene, protein or step malfunctioning
Those things are a "malfunction"?
(But not your small dick, right? That's 'normal'...)
To be fair, he never said anything about those demonstrated traits being exhibited by a female of the species. I'd be disconcerted to have small breasts as a male... and possibly excited.
industrious dad (Score:5, Insightful)
Who happens to be a biotech entrepreneur...
it's like saying
charismatic dad leads hundreds of millions, when writing about obama.. let's not leave out key pieces of information here.
Re:industrious dad (Score:4, Interesting)
i agree...the summary sounds like he's a regular guy with no biology training that self-taught himself so that he could help his daughter, leaving out these tidbits from the article: "...who had trained as a clinical geneticist..." "...Johns Hopkins University School of Medicine in Baltimore, Maryland, where Rienhoff trained as a geneticist..." "Rienhoff had long been tapping experts such as Dietz for assistance..."
I'm not taking anything away from the dad's effort and dedication to his kid, just the "industrious dad" angle.
Re:industrious dad (Score:5, Informative)
In 2008, Jay Flatley, chief executive of Illumina, [wikipedia.org] offered Rienhoff the chance to sequence Bea's transcriptome -- all of the RNA expressed by a sample of her cells -- along with those of her parents and her two brothers.
Unsatisfied, Rienhoff went back to Illumina in 2009 to ask for more help. He proposed exome sequencing, which captures the whole protein-encoding portion of the genome, and is in some ways more comprehensive than transcriptome sequencing. At the time, Illumina was developing its exome-sequencing technology, and the company again took on the Rienhoff family as a test group.
The answer to his daughter's health problems was not found in his garage, with second hand equipment.
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Oh, but you didn't read the article, then. The sequencing was done for him as a favor, for free. He only spent money on preparing the samples, that's not very expensive.
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Who happens to be a biotech entrepreneur...
Yeah, good point. But let's not discourage industrious dads, either. When my daughter was three she began exhibiting symptoms of a diagnosed syndrome that were pretty brutal and after the pediatricians wound up at "let's see if she grows out of it" I decided to spend a week at our local medical center's library, for access to the journals I couldn't get online. Working backwards from symptoms to possible metabolic pathways I came up with a no-downside possible
Father of the Year (Score:4, Insightful)
So it’s fitting that retired defence chief Angus Houston today joined the ranks of famous Aussie dads like TV personality David Koch, sportsman Steve Waugh, politician and illegal invader of iraq leaving thousands of kids fatherless former PM John Howard to be named as 2011’s Father of the Year and tv personality Steve Vizard.
Similar genetic search (Score:2)
Seriously? (Score:3, Insightful)
Summary: "Hugh Rienhoff has searched for more than a decade..."
Story: "Hugh Rienhoff says that his nine-year-old daughter, Bea, is..."
So he's searched for more than a decade for an answer to questions about the medical conditions of his nine-year-old, hmm? Well done, folks.
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A bit like the biblical use of the number 40, then.
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Re:Seriously? (Score:4, Insightful)
No problem there - you need to count like a journalist.
He started in 2003 (the 2000s) and stopped in 2013 (the 2010s) ... that 2 decades which more than a decade - easy !
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One of the symptoms of the disease is that time passes more slowly for her.
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He's such a good geneticist that he sequenced himself and his wife and PREDICTED that his daughter would be born with this syndrome.
No? What? You're saying that journalists can be WRONG? UNPOSSIBLE!
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FTA: "Now nearly a decade into his quest, Rienhoff has arrived at an answer."
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The original article said "nearly a decade."
This is journalism. You want fact-checking. That's a different department.*
_____
*And they all got laid off.
Old Links (Score:4, Informative)
wait, what? (Score:3)
That sounds far beyond the capabilities of our current technology. How the heck would they do that?
Re:wait, what? (Score:5, Informative)
"A collaborator of Rienhoff is now engineering a mouse that shares Bea’s gene variant"
That sounds far beyond the capabilities of our current technology. How the heck would they do that?
Genome editing has gotten a lot better; here is a recent example [cell.com], but I'm sure this isn't the only way to do it. Of course deliberately generating mutant mice is one thing; genetically manipulating live humans to make them healthy is much more difficult. (Hint: there's a lot of attrition in these mouse studies!)
Re:wait, what? (Score:4, Interesting)
This has been possible for decades. Short and simplified answer to "how":
1. Put the gene of interest (e.g., Bea's variant) into mouse embryonic stem cells (mESCs) in place of the "normal" (wild type) allele.*
2. Make a female mouse super-ovulate and harvest eggs.
3. Transfer nucleus of engineered mESCs into denucleated eggs.
4. Allow re-nucleated eggs to undergo initial cleavage events in vitro. (These are effectively clones, but with one genetic change.)
5. Take best developing clones and implant into pseudo-pregnant female, ala IVF.
6. Profit!
*In the case of a knock-in (adding or replacing a gene), you need to use vectors that will insert in place of an existing "normal" gene, "knocking in" a mutant or variant. In the case of a knock out, you can either make a copy that doesn't transcribe into mRNA or just use the flanking DNA sequences without the gene you want to remove.
Please proofread before posting. (Score:3)
To "his daughters mysterious disease"?
"daughters" is plural meaning more than one daughter
It's "to his daughter's mysterious disease".
The daughter has the disease. It's the daughter's disease.
Come on. This is fourth grade English. If you're old enough to use a computer, this should be second nature by now.
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Scanning... scanning...
Dammit. No ironic errors found.
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thanks to you and your kind for changing the big white mints in the jourinals.
Hutchinson–Gilford progeria (Score:3)
Another example of parents who studied their own child's genetic disease was Leslie and Scott Gordon, whose son Sam had Hutchinson–Gilford progeria. They were both physicians. They organized a major research project, found the gene and the mechanism, and identified some plausible therapeutics, including a clinical trial of the farnesyltransferase inhibitor lonafarnib. http://en.wikipedia.org/wiki/Progeria [wikipedia.org] http://www.progeriaresearch.org/ [progeriaresearch.org]
Needless to say, it was a dramatic story that got a lot of news coverage that you can find on Google.
The Hollywood movie would end with a cure, but unfortunately that didn't happen. These are the kind of scientific breakthroughs that would make a scientist's career, but even after this combination of talent, funding, hard work and luck, the only clinical accomplishment they have now is a drug with a small, statistically significant improvement. OTOH there are a few diseases that were inevitably fatal 20 years ago, that now have a long-term treatment that amounts to a cure. I hope it works out for them.
According to Science: "Gordon's foundation set up a cell and tissue bank, launched a clinical and research database, and gave out seed grants for research. The foundation successfully lobbied for the disease to be included in the Children's Health Act of 2000, getting the National Institutes of Health (NIH) to come up with a plan for progeria research. A 2001 workshop led to the creation of a genetics consortium, whose members went on to discover the gene responsible for the disease."
Spoiler alert (Score:2)
Excuse me, but (Score:2)
I WANT MORE LIFE, FUCKER.
Ahem. Sorry, all this talk about DNA and genome sequencing and stuff all got me thinking of Blade Runner again.
Truth be told, I've been practicing this line quite a lot since I read this article. Earlier, I even had a watermelon that I carved little holes into it for eye sockets and grapes for eyes for practicing the finishing move head-squish-eye-gouge technique, but I hate to admit that I got a little hungry waiting and ate my Eldon Tyrell practice dummy.
So now what I really sho
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not quite applicable sentiment here, as the man wanted more life for someone else (admittedly with half his DNA).
Maybe more like Leon, who had current photos of friends in his pocket and became enraged when Decker shot one of them. He had some care for others.
So get the rind of that watermelon back, and smack it a few times "wakey wakey....time to die!" Or shoot it with shotgun, "Let me tell you about my mother!"
The power of love (Score:5, Insightful)
TFA may be filled with references to genetic sequencing and names of various names of genetic-mutations, such as "TGF-B" (sorry, /. can not display "beta")
But at the base of it all, it was the love of the father for his daughter that led to the tireless search for answer, for almost a decade
It's heartwarming, to say the least
Re:The power of love (Score:5, Interesting)
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Look up Tale-Nucleases.
They're still in the research phases, but they're the sort of technology needed to do targeted alterations as you suggest. The difficulty in the human case would be to get the protein into every single cell... but you might be able to get away with altering a batch of stem cells, which would then added back into the heart/etc to ameliorate specific clinical pathologies.
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Because rich people are inherently evil and therefore their love and dedication does not count as much.
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Well, if he actually earned that money (hey, it's possible), I don't see how this is a bad thing.
Sure there are plenty of bastards scamming their way into great wealth, but some actually become rich by providing goods or services that people are entirely willing and happy to pay for.
Re:The power of love (Score:5, Insightful)
The world is not fair or equal but when someone is presented with an chance to do something and has the ability and resources to do so, that does not take away from what they did. All your comment does is highlight how jealous you are because he has money and you do not and he did something that you can never do.
Re:The power of love (Score:4, Insightful)
I don't know if it's intentional but you are trivializing what he did because he used money to get there. Yes there are plenty of parents out there that don't have the resources(which to me seemed more like connections because of his training than money) to get this looked at.
You don't have to be poor to care and that's how you make it sound. He did work out of his basement yes he most likely spent a some cash on it. That doesn't trivialize the process. People like him are why we have improvements in diseases like ALD. If this genetic mutation starts showing up in others now that they know about it then we are one step ahead of the game on finding a cure.
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I'm not trivializing it, I'm just pointing out that it wasn't his industrious nature, it was his money that permitted him to get the result. Not to mention the fact that he has relevant training.
The headline and the summary trivialize the impact that money and training had in it and convey the same anti-poor attitude that you see all over the place. It wasn't the work that got the result, it was the work + training + money, without any one of those ingredients he wouldn't have gotten the result he did.
Re:The power of love (Score:5, Insightful)
The sequencing was done, according to the article, by a friendly company, not in his basement, and it was done for free. I don't think money played a huge role. His connections and education did, for sure.
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You don't seem to grasp the asymmetry between life and death. I was configuring a FreeBSD jail the other day. The guide I consulted expressed strongly recommended that you begin with a fully featured jail and then subtract until it breaks rather than start with a bare jail and add until it works. There's usually about a 100,000 ways you can yank out a
Re:The power of love (Score:4, Informative)
By far the most expensive part of the process was donated by Illumina, a company which makes gene sequencing equipment and accepted his family as a test group. That probably would have cost hundreds of thousands of dollars. (The summary's misleading; he only prepared the samples in his basement. The sequencing equipment was bleeding-edge.)
As Xeno man said, the real treasure this fellow had was his knowledge of molecular biology and biochemistry, although as a player in the biotech industry his connections weren't insignificant.
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That's not how that works, the hardest working folks are the kitchen staff and janitors in many buildings and similarly the hardest working people are usually not the best paid.
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Funny, given that this place if full of betas
This is just because you are looking at the story to early.
Later on after finding the culprit gene damaging her body the good parent uses all of his skills to create a mutation that will protect her and her children from ever having any malady or cancer ever again. He then hatches a plan to infect the entire world with his creation and saving humanity from the pain of disease.
The only cost is looking a little lizard like.
Spiderman though being such a vain asshole decides that the good parent trying to save
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And as the technology gets cheaper and more accessible those bits and pieces we can identify become even smaller and more subtle and the genetic expression of those bits of pieces will be stuff we don't even consider malfunctions now but just variance.
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All variance is caused by "malfunction" in the genetic process.
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Since our DNA is decided the moment the sperm enters the ovule and the 2 parents' DNA mixes, I guess we're bound to be diverse, right? But my dilemma is about where will we draw the line about syndromes and people who just have "very long fingers". Because they will actually be identified by a faulty "something".
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Since our DNA is decided the moment the sperm enters the ovule and the 2 parents' DNA mixes, I guess we're bound to be diverse, right?
Your DNA isn't exactly decided then, because of replication errors/mutations.. I guess the earlier any errors occur, the greater chance that something goes drastically wrong, because then those mutations serve as the template for further replication.
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All variance is caused by "malfunction" in the genetic process.
Except of course the variance observed from epigenetic processes (such as DNA methylation which may have a role in cancer and obesity)
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That doesn't say "all sex partners", it says any partners that she's had a baby with. Which is quite an important distinction..
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Well, to be fair he does make a compelling point that environmental input may, in fact, impart genetic conditions. How else would you explain the bible giving him the retards?
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"when you raise your children as vegans"
Well TFS says "or the cause of a mysterious constellation of clinical features in his daugther Bea:"
constellation sounds like its as valid as astrology. The star Vega (where Vegans come from) is in the contellation Lyra
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What a small,sterile little world you live in, where the only source of genetic material in a child is its mother and father. Do a little bit of research on viruses, especially retroviruses, and horizontal gene transfer.
The likelihood of that being the culprit in any specific case is abysmal. Now, it seems like this girl has a de novo mutation, but most likely one due to traditional errors in the replication machinery, or chemical modification. While viral activity and HGT are important to recognize in the evolutionary tree as a whole, they are not critical to everyday mundane genetic variability.
Re:Fluoride? (Score:5, Funny)
Searching for "fluoride and elvis" leads to 2,500,000+ web pages, so I'd be much more worried about fluoridated water driving me to wear jumpsuits than about birth defects.
Re: Fluoride? (Score:5, Insightful)
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Searching for "cat urine birth defects" leads to 559,000+ of web pages, obviously this is a more important problem and needs to be solved first.