Industrious Dad Finds the Genetic Culprit To His Daughters Mysterious Disease

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."

Comments

Origin

[Sasayaki]

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

[SuricouRaven]

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

[crutchy]

reminds me of that dude that created the t-virus to cure his daughter... and instead created... Milla Jovovich... fucking genius!

Re:Origin

[SuricouRaven]

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

[quacking duck]

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.

Re:Origin

[Anonymous Coward]

Your claims are inconsistent with this google result:

http://healthland.time.com/2011/10/05/the-pancreatic-cancer-that-killed-steve-jobs/

Source?

Re:Origin

[operagost]

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.

Re:Origin

[JonnyCalcutta]

Stan Lee, is that you?

Re:Origin

[JoshuaZ]

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.

Re:Origin

[Anonymous Coward]

It's possible his panceas problems were caused by his Fruitarian diet that he had done for years in the 80's.

Re:Origin

[NeoMorphy]

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.

Re:Origin

[Anonymous Coward]

No it is not possible. Human physiology is never "A caused B". It is always "A in the presence of X,Y,Z leads to B under condition C".

Further, the current state of medical science is too primitive to say much about X,Y,Z and how well the phenomenon can be generalized to conditions other than C. If this were not true you wouldn't see all this focus on average patients and clinical trials.

Re:Origin

[Richy_T]

Andy Kaufman also.

Re:Origin

[Anonymous Coward]

Or he could become a superhero running around at near light speed injecting all the lawyers and politicians with random diseases and then sits back and watches as actual cures become a world wide priority rather than selling high priced medications that alleviate the symptoms for the rest of your life.

Re:Origin

[SoldierII]

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.

That is pretty sweet, looking for the movie...

Re:Origin

[Jmc23]

Perhaps you just don't understand what real Science Fiction is about? It's not just fantasy/fiction in space!

Re:Origin

[drunken_boxer777]

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't always be good. Right?

As for the the heroes relying more on strength than intellect, that is interesting. Perhaps nerds like them because they think, "I am already smart, so if I were strong as well I'd be a real hero." Or maybe, they think about how bigger stronger bullies use strength, against which their intellect usually does little good, and project that in a role-reversing fashion.

Anyway, you raise interesting points about archetypes in literature spanning millenia.

Re:Origin

[Anonymous Coward]

Jobs delayed having the Whipple surgery. The Whipple has a high mortality rate. Having been there myself, it was very scary. It isn't your place to judge someone else making life and death decisions for himself.

Re:Origin

[Anonymous Coward]

Next thing you know, the pharma companies will be infecting entire populations just to keep them in check, and bribe politicians with the cure. Then terrorists will rise up, blow the head off of the statue of liberty, and UNATCO will be formed. Soon after that, everyone will be running around in slums, it will perpetually be nighttime, and cool guys with sunglasses will be hailed as heroes because they shoot everyone.

Damn that game was prophetic.

Re:Origin

[JoshuaZ]

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.

Re:Origin

[Anonymous Coward]

Its called minmax strategy. If we want to minimize the maximum amount of danger to ourselves we first need to consider what that may be.

Re:Origin

[Anonymous Coward]

No. It's simply what's needed for a good story. Imagine the superhero story that goes like this: person makes ground breaking discovery (say cold fusion), said discovery is quickly incorporated into the lives of billions world wide, in short order, everyone's lives are marginally improved by said discovery.

How many times are you going to shell out $2 to read that story? Comic books go the other way because while it's worse in real life, it's still a better story.

Re:Origin

[Anonymous Coward]

i believe you misspelled malaria: its polio.

Re:Origin

[Anonymous Coward]

You know what they call alternative medicine that works? Medicine!

Re:Origin

[quacking duck]

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...

Re:Origin

[Patch86]

Just FYI, I would watch that movie.

Re:Origin

[UnknownSoldier]

Why are you unable to respect _his_ decision?

Simply because the outcome isn't what _you_ wanted??

Re:Origin

[Anonymous Coward]

I think the anti-science reaction comes from using the science to drive the plot. If the plot was that new scientific device makes everything great for everyone, then it would probably be a boring read or, at the very least, a much more difficult book to write and make interesting. Movies and single shot stories (outer limits, etc) are often reduced to this idea where the one scientific discovery is driving the plot and so they generally focus on the negative for story telling reasons.

If you look at series, on the other hand, they often portray science much differently since the scientific discoveries are the backbone of the universe. This does not mean they will not portray some science negatively though (Terminator & BSG series for instance). Look at Star Trek: TNG for an example where science is generally well regarded... All problems on earth are pretty much solved, all conflicts usually end up with some scientific change to the deflector dish to fix everything, and of the main characters only Worf is really muscle bound.

Re:Origin

[Jewfro_Macabbi]

The kind of pancreatic cancer Tommy Chung used the alternative treatment hemp oil to eliminate?

Re:Origin

[hublan]

Why are you unable to respect _his_ decision?

Simply because the outcome isn't what _you_ wanted??

I don't think it was the outcome he wanted either. But he chose to believe in medical quackery first, and now his children don't have a dad.

Re:Origin

[Maxo-Texas]

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").

Re:Origin

[Jmc23]

Science fiction is the use of story telling to explore the impact of technology on humanity regardless of the actual setting. You might be a youngin if you think it's something else.

Re:Origin

[quacking duck]

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).

This also has nothing to do with modern medicine being 100% effective. Of course it's not, and no one claims that.

Moderation in anything is key.

Re:Origin

[JThundley]

Don't forget the Beastie Boy that did the same thing. He was a vegan and tried alternative medicine before seeing a real doctor.

Re:Origin

[Kaenneth]

The Whipple operation didn't save Dick Wilson http://www.youtube.com/watch?v=nbOuv2CipFE

Re:Origin

[LeadSongDog]

Surely that's the premise of "Breaking Dad"?

Re:Origin

[JoshuaZ]

Yeah, so it does seem strongly like you are disputing definitions http://lesswrong.com/lw/np/disputing_definitions/. Words don't have absolute Platonic meanings. But even if we grant that and that and say that, it doesn't change the initial point. All those Outer Limits episodes I mentioned clearly fall into the cateory of exploring the impact of technology on humanity. The impact in all of them "awful terrible stuff because scientists are arrogant". So I fail to see your point.

Re:Origin

[dwye]

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.

Re:Origin

[Anonymous Coward]

Reminds me of a joke--

A guy's feeling ill, and he goes to the doctor for a checkup.
The doctor says it's a minor infection; just take some antibiotics and he'll be fine in a week. The man refuses, saying that god will watch over him.
A month later, he's even worse and gets sent to the hospital. A surgeon shows up saying that it's progressed, but it's entirely curable if they schedule for an operation. Again, the man refuses, saying that god will watch over him.
Soon after, the man's wasting away when a researcher comes in saying that they have a novel new treatment that can save him, but it has to be done immediately. Again, the man refuses, saying that god will watch over him.
The man dies, and he's standing before god, furiously demanding an explanation as to why he died, despite his complete faithfulness.
God shrugs and answers, "Why do you think I sent the doctor, surgeon, and researcher?"

Re:Origin

[Anonymous Coward]

Why are you unable to respect _his_ decision?

We are driven to survive. Natural selection makes a goddamn beeline for this trait. It's so ingrained in our nature that we have difficultly comprehending that someone would actually want to die. The only way we can rationalize it is by assuming they are in severe physical or mental anguish. Jobs displayed no overt signs of either at the time is cancer was still treatable. Therefore, we assume his decision was not rational and therefore not valid.

Re:Origin

[holmstar]

Yes it is. Saying "It's possible that A caused B" is very different than saying "A caused B". Your point about complexity and multiple causes is true, but not necessarily in competition with the parent's statement. If A+C+D causes B, but C+D alone doesn't, is it really so wrong to say that A caused B?

Re:Origin

[Qzukk]

I'd have gone with Osamu Tezuka, but I guess Stan Lee could do in a pinch.

Re:Origin

[steveha]

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 retconned this. But never mind.) Teleportation is a seriously world-changing invention, and for it to be even remotely possible, related tech needs to exist. Yet the world looks pretty much like our world.

For another example, Tony Stark has invented "repulsors", which seem to directly turn electrical energy to momentum. Jet fighters need to carry lots of fuel, but Iron Man can fly rings around them carrying nothing but a micro fusion reactor. Again, this is a world-changing invention: maybe it needs the smartest man in the world to invent this, but once he has done it, others will reverse-engineer it and then the world changes.

I give you two reasons why world-changing inventions don't change the world in comics: 0) Figuring out the impacts of this technology could tie up a writer full-time for weeks; a science fiction writer might do this, but the comics writer wants to spend time writing comics stories. 1) If the writer did spend the time, he/she would then be telling science fiction stories about the impact of technology on society, not about the comic characters.

A related problem is the desire to never change the formula too much. For example, the iconic villains always come back (e.g. Batman never seems to be done with the Joker). So, like an episode of Star Trek: The Next Generation, the storyline often ends up with everything returned to the status quo ante. Inventions not changing the world is part of this. We identify with Spider-Man partly because he lives in recognizably the same world as we do... he's sort of a "blue-collar" hero, no mansion with hidden cave for him. If he lived in a futuristic society with teleporters and personal flying cars, he might be largely the same character but I don't know if I would have thought of him as "blue-collar".

One of the things I really liked about the Watchmen story: at the end, we see that Ozymandias has actually invented some world-changing stuff (really clean electric power, really efficient electric cars, etc.) and the world actually changed. Watchmen was able to do this because it was conceived as a limited series, so they didn't need to be able to tell stories in the changed world after the ending.

TL;DR It's hard work to figure out how society would change, and stories about how society has changed don't fit the desired template for comics.

P.S. As for actual science fiction stories, sure there are some about how technology screws the world up, but there are plenty of other stories that don't take that approach.

Re:Origin

[Jmc23]

You said it was a 'problem'.

Re:Origin

[Anonymous Coward]

I haven't seen most of her recent movies, but they sure blurred her face a lot in Ultraviolet. Actually, I think everybody's faces were blurred. It was horrible.

Re:Origin

[Anonymous Coward]

Why are you unable to respect _his_ decision?

Simply because the outcome isn't what _you_ wanted??

No, it's because the decision was absolutely freaking moronic by any reasonably objective standard.

Re:Origin

[Anonymous Coward]

Saying A caused B makes it sound like everyone should avoid A (the fruitarian diet).

Just hypothetically:
Fruitarian diet + genetic variant A -> pancreatic cancer
Fruitarian diet + genetic variant B -> no pancreatic cancer
USA food pyramid diet + genetic variant A -> no pancreatic cancer (instead cardiovascular disease)

Re:Origin

[Anonymous Coward]

Also dont forget all the people who went to the doctor first and died anyway. Or the people who tried alternative medicine you dont hear about since they didnt die and their health is none of your business.

Most alternative medicine is crap, true. But these arguments against it are very close to argument from authority/consensus fallacy.

Re:Origin

[JoshuaZ]

Yes, it is a problem that they so frequently take this knee-jerk, anti-technology attitude.

Re:Origin

[ewhac]

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.

This is a tautology; everyone already knows Bill Gates is a super-villain.

And like most power-mad super-villains, I'm quite certain Gates hasn't bothered to consider the possible long-term downsides to putting his fumbling thumb on the scale of evolution and genociding several species of pathogen.

Re:Origin

[mattack2]

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.

Re:Origin

[JoshuaZ]

I think you missed the point. The malaria parasite is unambiguously a bad thing. It doesn't do much in the general ecosystem, simply preying on people. Wiping out malaria will be a net benefit. Labeling doing so the act of a "power-mad super villain" if anything serves to illustrate my point even more. You've been so subject to literature portraying every attempt at improving quality of life that you have to imagine some fantastical bad result of something simply because it pattern matches to what super villain would do. Of course, it also helps when one is living in a country without malaria. It is much easier for someone who doesn't have a problem to worry about upsetting the natural order when it isn't their children dying. I have to wonder if you would have had the same attitude about small pox before we eradicated it.

Re:Origin

[crutchy]

steve jobs ate one too many apples

Re:Origin

[Anonymous Coward]

You're equivocating respect as in "respect his right to make decisions for himself" with respect as in "thinking that his decision was something a reasonable person might choose." Once you disentangle those two senses, your post makes no sense at all.

Re:Origin

[HiThere]

Yes.

I will grant that this *incorrect* use is very common, but there's usually an at least implicit understanding that "C+D" applies is common knowledge. This thing about the "fruitarian diet" is the first I've ever heard of it...and apparently it took place decades ago and was not maintained (if I'm understanding the proposal correctly), so it's an unreasonable supposition that it would be common knowledge.

P.S.: I'm also not aware of any studies that show that a "fruitarian diet" leads to pancreatic cancer. I'd be more inclined to suspect barbequed ribs or bacon. High temperature cooking of fatty meat in the presence of nitrites (and/or nitrates?) *has* been shown to produce carcinogens. (Not saying that no such studies exist, but if so I sure don't know about them.)

Re:Origin

[HiThere]

Sorry, but it's not that simple. Many forms of alternative medicine often work, but the problem is in diagnosis. And most of the practitioners are not skilled enough to tell when to send the patient to someone with a different specialty.

Also, there are still some medical problems for which there is no solution.

Non-alternative medicine is both better at detecting when there is a need to refer the patient to a specialist in a different area and in insulating the practitioner from blame when things go wrong. But this doesn't mean that many forms of alternative medicine don't have a fairly high success rate. In fact, it has recently been proven that, e.g., many anti-depressant pills have no greater success rate than does a placebo, but they have much worse side-effects.

Re:Origin

[Anonymous Coward]

Words don't have absolute Platonic meanings.

So, you mean words do it with each other too?

Re:Origin

[HiThere]

Given his examples, his comments don't apply to science fiction, but only to Super-Hero comics and hollywood movies. And for those genres it's correct. Perhaps there are print works on the same theme, that aren't takeoffs on the comics or movies, but I've never encountered one.

OTOH, Science Fiction, or even Science Fantasy, seems to be a dying genre. Fantasy has more or less killed it and swallowed it whole. (I will admit that even at the top of it's form there was an awful lot of Space Opera that was disguising itself as Science Fiction, and at other periods there was an immense amount of Jingoism and Militarism, though that often actually blended into a real Science Fiction story.

To me Science Fiction is epitomized by E.E.Smith, Cordwainer Smith, Hal Clement, and Isaac Asimov. There were others, of course. And note that it was shaped and driven by one person: John W. Campbell, Jr., as editor of Astounding/Analog. It pretty much collapsed under the weight of the "New Wave" where style and characterization triumphed over substance. Some or Charles Stross' works are Science Fiction in this sense. So, IIUC, though I've never read them, are some of Neal Stephanson's works. So it's not dead. Stross' "Halting State" is a good example of extremely good Science Fiction.

OTOH, most fantasy in it's reincarnation since around 1990 or a bit earlier, is much more "scientific" than the versions were that existed in the 1930's or earlier. There are logical rules for what works. If there are all powerful entities that are ruling things, either they remain off stage, or they are humanized. Even if they are off stage, they are no more inscrutable than is a corporation. Usually they are more predicatable than are the human characters. Compare this with Lovecraft or Dunsay. (OTOH, it's not that different than Mallory [Le Morte de Artur], though the mood is generally less implacable.)

P.S.: Do note that Science Fiction always had the accent on Fiction. Even the hardest of hard Science Fiction tended to do so. Actually, I suspect that Stross' "Halting State" is the hardest Science Fiction ever written. An argument could be made for "When Worlds Collide", but that would need to be based on the lack of knowledge when it was written. This justifiable, but I still feel that "Halting State" is a better example. For one thing several of it's "predictions" have already come true. (Prediction is in quotes because actually stories aren't making predictions, they are taking plausible possibilities and presuming that they have occurred, as a device to allow one to more easily suspend disbelief. If they really are high probability occurrences, then it's not too surprising if some of them happen.)

P.P.S.: Partially this is to answer another respondent to you who accused you of the "No True Scotsman" fallacy. I was demonstrating that I *do* know and recognize actual Science Fiction, as well as some associated genres.

Re:Origin

[Nyder]

It's possible his panceas problems were caused by his Fruitarian diet that he had done for years in the 80's.

It's possible that God and Satan decided to have a Job sequel and gave Steve Jobs cancer to test his faith.

https://en.wikipedia.org/wiki/Job_(biblical_figure)

come on, Job, Jobs, it's genius.

Re:Origin

[HiThere]

Read "The Best of John W. Campbell" (or, possibly, "The Best Short Stories of John W. Campbell". Every one of them is a story where there is no, or next-to-no, anti-science theme present.

The reason that we get the same hackneyed theme over and over again is that producers buy that same theme, suitably repacked, in preference to alternative themes. Even when they buy the right to use a decent story they frequently (usually?) so pervert it's basic story line that it ends up falling in the standard groove.

I have given up watching movies because I've been so disgusted every time I have done so.

OTOH, "I Love Lucy" ran for decades based around essentially the same formula for most of the shows. And it was one of the most popular shows on TV. So my tastes are clearly not those of the majority. But don't blame the crappy selection on the lack of options. Plenty of options exist. A plethora of options. But producers don't choose to produce much of anything else. Just like (IIUC) most games are currently first-person shooters. It's not that no other games are possible, or even exist. It's what is easy to build, and fairly certain to sell. (As a counter example, I still prefer to play Alpha Centuari alternating with Civilization: Call To Power [both from Loki] over any moder game with which I am familiar, baring a couple of variations of solitaire. I prefer this to such an extent that I keep a virtual machine around purely for the purpose of playing those games. [They won't play on a modern Linux system due to system library incompatibilities.])

Re: Origin

[ceoyoyo]

Um, no. Alternative medicine that works is called "medicine." There are lots of examples of drugs or treatments that are based on plants, animals and other alternative medicine favourites, but when they're purified, researched and tested they become real medicine.

A lot of money has been spent testing alternative medicines. They don't work in any clinically relevant way. With one exception - ginger relieves nausea.

Re:Origin

[slimjim8094]

I am unable to respect his decision because his decision was stupid, and I don't respect stupidity.

Note that I would not try to prevent him from making it - people should be allowed to be stupid, so long as it's only hurting them. But respect it, no.

Re: Origin

[Anonymous Coward]

Clinically relevant being determined via clinical trials which assess the effectiveness of a treatment towards an imaginary average patient?

Information can be gained from such studies but treating them as the gold standard has resulted in practically no unequivocal progress during the last 20 years. Find papers about discovery of insulin, penicillin, chemo, etc. No averages except if accompanied by an apology about how crappy it is you have been forced to use an average, either you understand the system enough to get an effect every time or not.

Re:Origin

[bogjobber]

A lot of that can be traced directly to WWI and WW2. Before the World Wars you saw quite a bit more utopian thinking. The thought that science would lead us to a new era of enlightenment, technology was going to solve all problems, cure all of the diseases, end all wars, etc. was quite prevalent at the time.

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 (think Mary Shelley's Frankenstein) started the mad scientist trope, but it really exploded in the mid-20th century. And since that's when the Golden Age of Comics and Golden Age of Science Fiction happened to occur, that's why so many comic book villains and sci-fi stories deal with that concept. People were just reacting to their environment.

Re:Origin

[Anonymous Coward]

Jobs also received a replacement organ that is denied to all other people with terminal illnesses. Apparently, his life was more valuable than the average person's life.

Re:Origin

[Anonymous Coward]

Your phobia of heretical treatment is unfounded. I was given a 5% chance to survive my renal cancer so I did cesium chloride as outlined by Kenneth Brewer. I am cured.

Phenotipyc variance

[cripkd]

I'm starting to think that in the following decades we will discover and categorize more and more syndromes like this.
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.

Re:Phenotipyc variance

[cripkd]

That was what I was trying to say: that once this gets really easy to check for, those things might prove a "mulfunction" of a certain gene or genetic process.
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?

Re:Phenotipyc variance

[GeekWithAKnife]

I'm sure many people would be keen to cure such genetic faults as small breasts...of course I do wonder if BBW lovers could simply be suffering from a genetic fault themselves.

Re:Phenotipyc variance

[Dexter Herbivore]

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.

Re:Phenotipyc variance

[Anonymous Coward]

I'd be disconcerted to have small breasts as a male

You'd prefer to have large ones?

Re:Phenotipyc variance

[Anonymous Coward]

I'm male and I have small breats. In fact, if I was femaie I believe I'd be classified as "ironing board".

PS: capcha is "hangars" heh

Re:Phenotipyc variance

[Joce640k]

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.

Re:Phenotipyc variance

[Anonymous Coward]

So, let me guess. It was the small breasts that set you off right?

Re:Phenotipyc variance

[Anonymous Coward]

He'd never have to leave his mom's basement.

Re:Phenotipyc variance

[Bruce Perens]

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.

Re:Phenotipyc variance

[Samantha Wright]

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, because it's defined by a shortage of melanosomes, which protect the body from UV light. (On the other hand, it improves vitamin D production, which requires UV light.)

There are even plenty of cases in the human body where healthy behaviour depends on what should be, by all rights, improper gene function: the cervical plug is made up largely of malformed virus particles (just the shells) which our ancestors commandeered millions of years ago. Without this strange adaptation, most pregnancies would fail. The attached placenta also owes its heritage to viral genes; without it, newborn human babies wouldn't be much larger than newborn rats.

Re:Phenotipyc variance

[thelovebus]

Agreed, but I think it's a hard issue to have a rational discussion about, without emotions outweighing reason. On the one hand, if society at large decides a genetic trait is undesirable, is it wrong to prevent people from screening for that trait? Heck, even if society decides a genetic trait is desirable, is it right to prevent people from screening out that trait for their own reasons? I know it's cliche or a platitude, but most of the time, determining right and wrong (to the extent that we could create effective rules or regulations) in these cases is really, really hard.

Re:Phenotipyc variance

[dwye]

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 chances of homosexuality in 5th and later sons will survive, as they express too infrequently to matter except over hundreds of generations. Perhaps they should have thought about that before they decided to come out of the closet.

Re:Phenotipyc variance

[Luckyo]

The traits are distinctly harmful. She has:
1. Severe problems putting on muscle mass, to the point of having to wear ankle bracers for balance
2. Likely has problems swallowing, specifically food ending up in nasal cavity.
3. Unknown complications (and likely trouble in finding a mate) from widely set eyes, which may trigger a natural rejection response in human males, similar to facial shape of people with down's.

Re:Phenotipyc variance

[HiThere]

Doesn't work that way. Natural selection appears to perfer to maintain homosexual preferences at as species dependent level (at least amoung mammals). And the leve doesn't appear to ever be 0%. Guesses about why are many, but I'm aware of no successful proof of any of them. (Among humans one guess is that single uncles are more supportive of their sisters children. I have my doubts that this factor is currently significant, but it could have been historicly important.)

P.S.: Natural selection is often a very slow process, when multiple genes are involved. My best guess is that homosexuality is, indeed, a process in which numerous genes are involved, and that many of them are adaptationally useful. Note that Kinsey measured many degrees of homosexuallity, ranging from totally homosexual to never homosexual, but with many (9?) shades inbetween. (If the number was nine, that's an artifact of his measurement tool, and not to be taken as otherwise significant.)

Re:Phenotipyc variance

[infinitelink]

I thought all of this^ was already true, that is, from my biological and genetics studies in school. I think your thinking is on the right track: it's similar to how I started to think about it while taking a bunch of science credits and...I also learned that some of these things (and similar) should go unmentioned at least for a time, if'n you want to do work in labs instead of getting blacklisted as a threat to their own egos (and theories): not to mention that, despite that it's illegal, a professor might just tell everyone all the work you ever did was actually done by the dipshit undergrad you just trained a few months ago: I know this because it's happening to a friend right now whose academic counsel, lawyers, well-connected friends and acquaintances, have all warned her that, say anything, she'll be blacklisted for life.

Re:Phenotipyc variance

[uninformedLuddite]

If homosexuality was genetic would it not breed itself out after a few(however many) generations?

Re:Phenotipyc variance

[Bruce Perens]

I am no authority on homosexuality. All I really know is that I meet a lot of gay folks here in Berkeley, and they are every bit as nice as anyone else.

Nor am I a genetics expert. But I know enough to hold a discussion.

You are right that there may be no genetic connection with homosexuality, because it doesn't seem to be inherited in general. But there are intriguing differences such as digit ratio, and we know that many developmental differences can have a genetic factor. Who knows what we will find?

I think the flaw with your argument is that you are assuming that homosexuals don't breed. Not true, and there may also be factors increasing the success of their offspring such as small, educated and relatively affluent families.

Next, do not assume that direct reproductive success is the only possible pro-survival factor. The contribution of homosexuals to the reproductive success of their close genetic relatives or even their community may be a pro-survival factor for genes like their own.

Re:Phenotipyc variance

[uninformedLuddite]

I wasn't really arguing just wondering that maybe in X generations that gene may be gone. Your last paragraph makes a lot of sense. In all honesty I have never really thought about the subject. Once again though someone has published a link that is taking me down another fascinating rabbit hole. Thank you.

industrious dad

[crossmr]

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

[Collin]

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

[Anonymous Coward]

I have a daughter with a similar disorder that I never thought I'd see fixed (we found that it was congenital myasthenic syndrome about 6 months ago). While searching for answers I got pricing on what kind of money is required to pull off what he did and I'd say that his title of "BioTech entrepreneur" played a bigger part in this discovery than where he went to college.

I applaud this man and I'm glad to see he went the distance for his daughter, but if he said that he did it for under 8 figures, I'd call him a liar to his face.

Re:industrious dad

[TubeSteak]

In 2008, Jay Flatley, chief executive of Illumina, 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.

Re:industrious dad

[Anonymous Coward]

This is no 'ordinary' hacker/maker. This is like calling Mr. Trovolds a guy who happened to come up with a bit of code every few months that runs millions of devices.

This dude had the training and ability and connections to do exactly what was needed. Also if you look at most medical bills 99% of it is pure profit to someone. Do you really think it costs 80 dollars for a cotton swab? I probably could buy a pallet for that. The medical profession becomes retarded cheap when profit is taken out of the picture. We have too much money in the process and the doctors/hospitals/clinics take advantage of that. Why? Because there are more people willing to spend more (not my money, its insurance money).

For example I have the ability to fiddle and manage a xbmc device and change the code if needed. My wife on the other hand. If the remote does not work? Well she would have to pay for someone to fix it (lucky she has me). Training and ability are also important. If I were to pay someone to set this up for me? Prob start around 10k just to get it up and running the way I have it.

Re:industrious dad

[tibit]

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.

Re:industrious dad

[bill_mcgonigle]

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 treatment that could work if a potential pathway (the only one I'd not eliminated) was correct and, after beginning treatment (nutritional) the symptoms of the syndrome went away. My sample size was too small, so I posted what I'd come up with to the relevant Yahoo Group where the parents and clinicians had gathered to discuss. Frankly, I didn't need another job, so I didn't pay attention beyond answering questions about my notes - my goal was accomplished and our lives became much easier.

But, I wasn't ostensibly 'qualified' to do the work. Yeah, I'd taken biochemistry and physiology in high school and follow the science nerd new sites, and can do research on Medline, but I'm definitely not a PhD endocrinologist. Sometimes you just skip 'inspiration' and go right for 'perspiration' if the motivation is sufficient.

Re:industrious dad

[crossmr]

It takes nothing away from industrious dads. I'm not saying he wasn't industrious, I'm saying they're implying he managed this because he was an industrious dad which is just false. He was an entrepreneur, trained in the field, and had friends /contacts that worked in the field and let him use equipment.

Really Interesting

[Anonymous Coward]

My son has both of those same conditions (hypertelorism and a bifid uvula). He inherited his hypertelorism from my wife's brother (who is the only one in the family I know of), and his bifid uvula from my wife's father's sister.

Is the linkage of hypertelorism and a bifid uvula in both children a co-incidence, or are they linked in some manner, given that they're both cranio-facial defects?

Btw, I would describe (and others describe) my son as being very handsome.

Re:Really Interesting

[Anonymous Coward]

Okay, now don't take this the wrong way, but what you are telling us is that your son was fathered by your wife's brother, and your wife is your wife's father's sister's daughter?

Anybody else see another way the traits could be inherited from those 2 people other than that way?

Re:Really Interesting

[cripkd]

This is exactly what I was saying above, that a lot of the aesthetic traits we find pleasing (or not) might prove to be small malfunctions of all sorts of bits and pieces in the whole genetic process.
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.

Re: Really Interesting

[Anonymous Coward]

Your mom.

Re: Really Interesting

[Anonymous Coward]

If a mother's older sibling had a disorder, she will carry the DNA for that sibling in her and pass it on. She may also carry DNA from all her previous sex partners and pass those on as well. Google microchimerism male DNA female brain (previous sex partners' DNA will also become part of her body via grafts). Read up and have a vomit-bag ready.

Re: Really Interesting

[somersault]

That doesn't say "all sex partners", it says any partners that she's had a baby with. Which is quite an important distinction..

Re:Really Interesting

[somersault]

All variance is caused by "malfunction" in the genetic process.

Re:Really Interesting

[cripkd]

Hmm, wouldn't that be true if we were all just cloned?
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".

Re:Really Interesting

[Anonymous Coward]

Because they will actually be identified by a faulty "something".

A "something" that isn't like the norm, sure, but that's still just "different". There's no formal syntax that lets us say that a piece of DNA is objectively invalid. Most of our DNA doesn't even do anything, so who cares whether or not a persons "short inferior fingers" gene is expressed.

OTOH, lots of people would prefer not to die of heart problems in their twenties, which was the main concern in this case. Classification by the social and physical problems they cause should work fine, not unlike what we do for addiction.

Re:Really Interesting

[somersault]

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.

Re:Really Interesting

[slew]

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)

Re:Really Interesting

[ArhcAngel]

Remember...one man's malfunction is Microsoft's feature.

Re:Really Interesting

[Jmc23]

No. But comments like this are all malfunctions in information gathering.

Re: Really Interesting

[curiousJan]

Actually it says the DNA is from the baby not from the partner, an even more important distinction.

The power of love

[Taco Cowboy]

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

[Dr Max]

Yet sad that we don't have any genetic mutation techniques to fix it. That said, the way this guy is going i wouldn't be surprised if he cures it as well.

Re:The power of love

[GeorgeMonroy]

This is awesome

Re:The power of love

[Anonymous Coward]

isn't that what they are for.

Re:The power of love

[hotrodent]

... such as "TGF-B" (sorry, /. can not display "beta")

TGF-B: FTFY (well, at least linked to a site that can display "beta"!

Re:The power of love

[hedwards]

That's one way of looking at it.

Another way of looking at it is that he had the opportunity to do this because he has a ton of money. Think of all the children with various rare conditions for whom there isn't any answer at all because their parents aren't well off.

Yes he was industrious, but the head line and summary would do well to note that he also has boatloads of money compared with most other dads.

Re:The power of love

[Anonymous Coward]

(sorry, /. can not display "beta")

Funny, given that this place if full of betas

Re:The power of love

[Dishevel]

Because rich people are inherently evil and therefore their love and dedication does not count as much.

Re:The power of love

[Shark]

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

[Dishevel]

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 humanity from pain is just making everyone ugly like his daughter murders the man and calls him an evil Supervillian.

Now, All is well.

Re:The power of love

[Xeno man]

What does it matter how much money the guy has? He was fortunate enough to have the skills, resources and dedication to do what he did. Think of all the parents that have a shit ton of money but are to stupid to do their own research or give up after a month because it's too hard.

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

[Anonymous Coward]

Monsanto might have a fix

Re:The power of love

[prelelat]

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.

Re:The power of love

[Samantha Wright]

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.

Re: The power of love

[Anonymous Coward]

Douse it with roundup, yeah... baby!

Re:The power of love

[hedwards]

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

[hedwards]

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.

Re: The power of love

[Anonymous Coward]

How little are you?

Re:The power of love

[tibit]

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.

Re:The power of love

[epine]

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.

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 coloured wire and cause something complicated to break. Which one is the God wire?

Sure he started 28,000 feet up the mountain. I've heard the last 1000 feet poses more difficulty than most humans wish to endure. The reason a paraplegic can haul himself arm over arm out of the Grand Canyon is because he has a T10 injury rather than something higher up. Your weird subtractive calculus totally misses the point.

Re:The power of love

[the biologist]

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.

Re:The power of love

[HiChris!]

Alt-225 gives you this "ß" and generally works for beta it doubles for the german es-tset , there isn't an alt-code for the typical lower case beta.

Re:The power of love

[kilfarsnar]

What, are you a biologist or something?

Re:The power of love

[Luckyo]

Finding a genetic problem is very easy in comparison to fixing it. To find, you need to grab any available cell, sequence DNA and then run analysis comparing it to previously known mutations and their effects against sympthoms of the patient.

This is doable with a second hand lab equipment and a computer with access to some medical databases. It's also doable by a decent lab researcher.

To treat the problem, you'd need extensive and actually working gene therapy. We do not have one yet, and it's highly unlikely that we will have one any time soon. Problems are simply too big to surmount, you need to create a version of DNA with changed genome, and somehow insert it into nucleus of all relevant cells of the patient.

Comparing this to what has been done here is akin to comparing invention of a wheel to inventing a modern airliner engine. It's a first, easiest step on the very long and difficult road.

Re:The power of love

[Amorymeltzer]

It's amazing to see how fast the field is shifting away from TALENs to CRISPR systems. The latter is just unbelievably powerful.

Father of the Year

[Anonymous Coward]

Why don't they give Father of the Year awards to people like this? instead of:

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.

Re:Father of the Year

[Anonymous Coward]

To be fair, many of those killed didn't have children yet, mostly due to being quite young. Don't forget to include the fathers left childless.

(I didn't say it would make him look better, just be more fair.)

Re:Father of the Year

[Anonymous Coward]

Who really cares about a bunch of elites patting eachother on the back? That's plainly all these awards are. I always thought "Father of the Year" was a quaint figure of speech and that they stopped giving it out in the 50s or something. You learn something new every day...

My dad hates me so much...

[atari2600a]

...that he went all Lorenzo's Oil on me until he invented a new disease.

Re:Culprit

[Anonymous Coward]

Do you have to work at being a dipshit or does it just come naturally to you?

Comment removed

[account_deleted]

Comment removed based on user account deletion

Similar genetic search

[billfen]

The blog of Dr. Matt Might (U of U) documents a similar case. http://matt.might.net/articles/my-sons-killer/

Seriously?

[Anonymous Coward]

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.

Re:Seriously?

[cripkd]

Someone just thinks "a decade" means "a lot of time".

Re:Seriously?

[mister2au]

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 !

Re:Seriously?

[SuricouRaven]

A bit like the biblical use of the number 40, then.

Re:Seriously?

[cripkd]

YES! So you've read it too???

Re:Seriously?

[Anonymous Coward]

Nowadays you can buy partial or full genome sequencing for just a couple hundred bucks! I guess you couldn't do that back in 2003.

Re:Seriously?

[MiniMike]

One of the symptoms of the disease is that time passes more slowly for her.

Re:Seriously?

[idontgno]

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!

Re:Seriously?

[HungryMonkey]

You know damn well that the summary is just a close guess to what the story is about based on the first paragraph, if that. If they read the whole thing someone else might /. it before them!

FTA: "Now nearly a decade into his quest, Rienhoff has arrived at an answer."

Re:Seriously?

[nbauman]

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.

Re:Seriously?

[betterprimate]

Idiot.

Re:Culprit

[crutchy]

i'm pretty sure dipshit is a genetic disorder... i have a huge lab in my basement that told me so

News for Nerds. Stuff that Matters:

[Anonymous Coward]

Check and Check.

In the parlance of Generation XYZZY: w2g, /.!

Re:liberalism is these disease

[ciderbrew]

So you think genetic conditions are caused by diet?

Old Links

[necro81]

I remember first reading about this guy, his daughter, and his DIY genomics in Make and Wired magazines back in 2009. I'm glad to see that, several years on, they at least have a likely culprit identified. It's still a long ways from describing the actual mechanism, effects, and potential treatments, but you have to start somewhere. I am also pleased to see that he has been able to get collaborators in industry and academia, who can put greater resources to it than just his own.

Questions

[Anonymous Coward]

Can she be treated now that she's been effectively diagnosed. 2. Does she even need treatment. She seems happy and ebullient enough.

Reminds me

[Anonymous Coward]

This reminds me of Lorenzo's Oil

Re:Culprit

[Anonymous Coward]

Instead of "Mr. Glass"

I hereby christen you "Mr. Ass"

Re:liberalism is these disease

[Anonymous Coward]

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?

"Hallelujah"?

[Anonymous Coward]

Really? How is that people don't "curse the Lord" for the illness but "praise the Lord" for when the infliction is not so bad?

Re: "Hallelujah"?

[Anonymous Coward]

Because if there is a lord, and he's anything close to the omniscient, omnipotent, angry dude christians think of him as, he's apt to hear you cursing him and start fucking with your life for his own amusement and your punishment. Praising him, OTOH, can only have good outcomes.

Re: "Hallelujah"?

[Anonymous Coward]

Tell that to Job. He only praised the Lord.

Re:Culprit

[camperdave]

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.

wait, what?

[slashmydots]

"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?

Re:wait, what?

[the gnat]

"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, 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?

[drunken_boxer777]

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.

Re:Culprit

[cnettel]

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.

Fluoride?

[justthinkit]

San Carlos, California is fluoridated. Anyone systematically rule this out? Searching "fluoride and birth defects" leads to 500,000+ of web pages. Here's the first one that came up for me: Fluoride linked to infertility, birth defects and low IQ.

Re:Fluoride?

[Anonymous Coward]

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?

[jd2112]

searching for vaccines and autism turns up a lot of hits too. Despite being debunked multiple times.

Re:Fluoride?

[KingMotley]

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.

Re:Fluoride?

[laejoh]

Fluoridated water is just a commie plot.


I'm more amazed myself by the fact that no one has yet referred to this job as a debugging job! This is debugging at its finest, gentlemen!

Re: Fluoride?

[Anonymous Coward]

That big titted playboy bunny said it was so, and she should know. She has big boobs, and a kid with autism.

Please proofread before posting.

[azav]

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.
   

Re:Please proofread before posting.

[XcepticZP]

Not only that, but they didn't spell the word daughter correctly: "daugther".

Re:Please proofread before posting.

[Anonymous Coward]

Three years ago I couldn't even spell the word "journalist". Now I is one!

Re:Please proofread before posting.

[wonkey_monkey]

Scanning... scanning...

Dammit. No ironic errors found.

Re:Please proofread before posting.

[iggymanz]

thanks to you and your kind for changing the big white mints in the jourinals.

Re:Why

[Anonymous Coward]

Only reason no one likes your analogies are they aren't compatible. Preventing someone from running into the street, or preventing them from swallowing drano, yeah, totally not even remotely similar to alternative "medicine".

Re:liberalism is these disease

[rossdee]

"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

Re:Why

[liamevo]

The hell you on about? The guy said nothing about prevention.

Hutchinson–Gilford progeria

[nbauman]

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 http://www.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."

95% die, not survive

[Anonymous Coward]

I think you have your numbers backwards. The vast, vast majority of pancreatic cancer cases are fatal, only a certain uncommon types are survivable.

Re:95% die, not survive

[quacking duck]

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

Re:95% die, not survive

[holmstar]

I understood that the high mortality is because most pancreatic cancers are not detected until the cancer has already spread. At which point it usually has already mutated enough to pick up a number of tricks that make it harder to kill, and thus less responsive to chemotherapy.

Re:95% die, not survive

[kinko]

I understood that the high mortality is because most pancreatic cancers are not detected until the cancer has already spread. At which point it usually has already mutated enough to pick up a number of tricks that make it harder to kill, and thus less responsive to chemotherapy.

most solid tumours in organs are like that... they are asymptomatic until they get to an advanced stage.

But in this case, 95% of pancreatic cancers are in the tissue around the pancreatic duct. The other 5% are in a different type of pancreatic tissue and aren't as aggressive, so if they are detected and removed then most patients survive.

Fools, all of you!

[Latent Heat]

I am trying to pin down the movie trope that I call "Fools, all of you!", but I am not finding the right references or calling it by the right name.

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 retentive dude" "from the EPA" shows up, not fully understanding what they Ghostbusters are doing, and demands that the Ghostbusters shut off their confinement grid as he charges is is an "illegal hazardous waste storage facility."

In a classic movie, this would be the peasants charging Dr. Frankenstein's castle, demanding that he stop doing what the peasants are afraid of but don't understand but is claimed to be done for their "own good" anyway, releasing The Monster (i.e. "Frankenstein's Monster" or simply "Frankenstein") in the process, with Dr. Frankenstein (the mad scientist, not the monster) yelling, "fools, all of you!" (for unleashing the Monster out of the peasants' ignorance).

Bill Murray's hip version of this is that the Mayor is in the entourage with anal EPA dude, after the Mayor hears from the Ghostbusters that disconnecting the "confinement grid" will bring great harm "to the city", the Mayor asks Murray, "Is this all true" to which Murray responds, "Yes, this is true, this man (EPA dude) has no d__k (a retort Murray's character had made to the EPA dude in response to EPA dude's officious bluster).

Any ideas? Maybe what I am looking for isn't called "Fools, all of you!" (my Web searches turn that up as spoken by the sci-fi Lovecraft-esque villian, that the citizenry cannot resist the bad supernatural forces unleashed by the villian, rather than a "good guy" made scientist who is made out to be the villian because of the Luddite attitude of the peasants-with-pitchforms?)

Re:Fools, all of you!

[Anonymous Coward]

You are trying to track down a trope. Therefore, I send you to: http://www.tvtropes.org/ It's not just for TV anymore.

Start by looking up the movies you know with the trope, and see if anyone has called out that trope (and given it a name). Failing that, try searching the tropes directly.

And even if you don't find the trope you were looking for, it will suck you in and you will spend hours going "haha, yeah... so true". http://xkcd.com/609/

And if the trope you want isn't in there at all, you can add it. You might get to be the trope namer.

Re:Fools, all of you!

[Anonymous Coward]

I am glad you clarified that point.

Medical Community Attitude

[Anonymous Coward]

I have known Hugh for many years. What the article does not mention is that when he first started on his quest he was vilified by the medical community for 'experimenting' on his daughter. He blew it off but it definitely rankled. Now, it seems, opinions may slowly be changing.

Re:Medical Community Attitude

[RockDoctor]

"Experimenting on" implies that he applied a treatment TO her .... which I didn't see any report of, though I admit to skimming the article.

Samples have been taken, to a degree of invasiveness that peaks at taking a blood sample ( a procedure that anyone with strange symptoms is going to be bored with). A wide variety of experiments may then be preformed on those samples, but they affect the source of the sample as much as a yeast culture (say, the one that brewed the beer beside me) is affected by an aliquot (said beer, in it's can) being poured into a pit of warm strong acid (beer ; stomach ; apply!).

Samples and testing samples are not the same as strapping the sample source onto a table and applying the shark-mounted laser to her.

Spoiler alert

[wonkey_monkey]

It was the milkman.

Excuse me, but

[The Wild Norseman]

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 should be saying is, I WANT MORE WATERMELON, FUCKER.

Re:Excuse me, but

[iggymanz]

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!"

Re:Excuse me, but

[The Wild Norseman]

Both excellent ideas! :D

Did no one else notice ...

[RockDoctor]

a biotech entrepreneur in San Carlos, California, who had trained as a clinical geneticist in the 1980s, went from doctor to doctor looking for a diagnosis.

(My emphasis.)

Now, I don't know about you, the specific reader, but I do know that I've learned more about genetics as a geologist than the average man. (I'm interested in the OOL problem and in evolutions in general (a day-to-day tool for the working man, like hammers and chisels, I should say)

So, guesstimating reasonably that I know more about genetics than 99% of the population, and more than (say) 80% of the (biased) sample from that population who post on Slashdot, then I'm pretty damned near certain that someone who has trained as a clinical geneticist has forgotten more genetics than I've ever known. Which makes him a pretty good person to carry out this sort of investigation.

Well done that man!

(Incidentally, I hold Nature's reporters to far higher standards of technical accuracy than, say, a national newspaper with a multi-national audience.)