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Industrious Dad Finds the Genetic Culprit To His Daughters Mysterious Disease

samzenpus posted about a year ago | from the doing-your-own-research dept.

Medicine 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."

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204 comments

LAWN DARTS ANYONE ?? (-1)

Anonymous Coward | about a year ago | (#44120187)

Up for a game ??

The power of love (5, Insightful)

Taco Cowboy (5327) | about a year ago | (#44120265)

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 (4, Interesting)

Dr Max (1696200) | about a year ago | (#44120515)

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 (0)

Anonymous Coward | about a year ago | (#44122323)

Monsanto might have a fix

Re:The power of love (-1)

Anonymous Coward | about a year ago | (#44120747)

You keep posting to shitty frist paost threads to keep your replies on top.

Stop that.

Re:The power of love (1)

GeorgeMonroy (784609) | about a year ago | (#44120819)

This is awesome

Re:The power of love (0)

Anonymous Coward | about a year ago | (#44120829)

isn't that what they are for.

Re:The power of love (1)

hotrodent (1017236) | about a year ago | (#44121175)

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

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

Re:The power of love (0)

hedwards (940851) | about a year ago | (#44121581)

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 (1)

Dishevel (1105119) | about a year ago | (#44121873)

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

Re:The power of love (1)

Shark (78448) | about a year ago | (#44121889)

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 (4, Insightful)

Xeno man (1614779) | about a year ago | (#44122051)

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 (1)

Anonymous Coward | about a year ago | (#44121831)

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

Funny, given that this place if full of betas

Re:The power of love (1)

Dishevel (1105119) | about a year ago | (#44121955)

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.

Origin (3, Funny)

Sasayaki (1096761) | about a year ago | (#44120199)

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 (5, Interesting)

SuricouRaven (1897204) | about a year ago | (#44120333)

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 (5, Funny)

crutchy (1949900) | about a year ago | (#44120427)

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

Re:Origin (5, Funny)

SuricouRaven (1897204) | about a year ago | (#44120667)

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 (4, Informative)

quacking duck (607555) | about a year ago | (#44120831)

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 (0)

Anonymous Coward | about a year ago | (#44121269)

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 (0)

Anonymous Coward | about a year ago | (#44121979)

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

Re:Origin (0)

Anonymous Coward | about a year ago | (#44122057)

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.

Why (-1)

Anonymous Coward | about a year ago | (#44121539)

Why do you group treating and preventing?

Let's take the case of child running into the street and getting hit by a car. You are saying all that matters is that she get conventional treatment. That trying to prevent this is worse than a waste of time.

I bet you don't like my analogy. Here's another:

You adorable little child poured some Drano down his throat. You are saying that preventing this would be a waste of time.

OR, in trying to untangle your mess of a post, you are really just saying you are pro-conventional chop-and-medicate medicine. In that case, who gives a flying frog what you in favor of?

Re:Why (0)

Anonymous Coward | about a year ago | (#44122047)

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:Why (1)

liamevo (1358257) | about a year ago | (#44122103)

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

Re:Origin (1)

Richy_T (111409) | about a year ago | (#44122247)

Andy Kaufman also.

Re:Origin (1)

operagost (62405) | about a year ago | (#44121471)

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 (1)

NeoMorphy (576507) | about a year ago | (#44122023)

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 (-1)

Anonymous Coward | about a year ago | (#44121037)

Milla Jovovich

Well, in some of the movies I saw with her in them, she was quite overdue for a visit at the dental hygienist, and like some other women her age had quite substantial cellulite. I was just amazed that they didn't use their genius to edit those visuals. I have my illusions shattered.

Re:Origin (1)

JonnyCalcutta (524825) | about a year ago | (#44121887)

Stan Lee, is that you?

Re:Origin (0)

Anonymous Coward | about a year ago | (#44122451)

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 (1)

SoldierII (2785237) | about a year ago | (#44122469)

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 (5, Interesting)

JoshuaZ (1134087) | about a year ago | (#44121909)

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.

Culprit (-1, Troll)

Anonymous Coward | about a year ago | (#44120201)

Himself? The mother?

No one ever takes responsibility for the troubles they cause others.

Re:Culprit (1)

Anonymous Coward | about a year ago | (#44120309)

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

Re:Culprit (2)

crutchy (1949900) | about a year ago | (#44120437)

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

Re:Culprit (0)

Anonymous Coward | about a year ago | (#44120987)

Instead of "Mr. Glass"

I hereby christen you "Mr. Ass"

Re:Culprit (1)

camperdave (969942) | about a year ago | (#44121429)

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.

Re:Culprit (1)

cnettel (836611) | about a year ago | (#44121529)

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? (0)

justthinkit (954982) | about a year ago | (#44121587)

San Carlos, California is fluoridated [just-think-it.com] . 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 [naturalhealth365.com] .

Re:Fluoride? (5, Funny)

Anonymous Coward | about a year ago | (#44121883)

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? (4, Insightful)

jd2112 (1535857) | about a year ago | (#44122015)

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

Phenotipyc variance (3, Interesting)

cripkd (709136) | about a year ago | (#44120213)

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 (-1, Flamebait)

Joce640k (829181) | about a year ago | (#44120283)

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'...)

Re:Phenotipyc variance (1)

cripkd (709136) | about a year ago | (#44120385)

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 (1)

Joce640k (829181) | about a year ago | (#44121145)

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 (1)

Dexter Herbivore (1322345) | about a year ago | (#44120717)

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 (0)

Anonymous Coward | about a year ago | (#44120757)

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

You'd prefer to have large ones?

Re:Phenotipyc variance (0)

Anonymous Coward | about a year ago | (#44121465)

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

Re:Phenotipyc variance (0)

Anonymous Coward | about a year ago | (#44120971)

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 (0)

Anonymous Coward | about a year ago | (#44121427)

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

Re:Phenotipyc variance (1)

GeekWithAKnife (2717871) | about a year ago | (#44120525)

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 (1)

Bruce Perens (3872) | about a year ago | (#44122355)

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.

industrious dad (4, Insightful)

crossmr (957846) | about a year ago | (#44120233)

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 (4, Interesting)

Collin (41088) | about a year ago | (#44120367)

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 (1)

Anonymous Coward | about a year ago | (#44121023)

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 (0)

Anonymous Coward | about a year ago | (#44121983)

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 (5, Informative)

TubeSteak (669689) | about a year ago | (#44121189)

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.

Really Interesting (0)

Anonymous Coward | about a year ago | (#44120251)

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 (1)

Anonymous Coward | about a year ago | (#44120341)

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 (0)

Anonymous Coward | about a year ago | (#44120573)

Your mom.

Re: Really Interesting (0)

Anonymous Coward | about a year ago | (#44120595)

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 (2)

somersault (912633) | about a year ago | (#44120715)

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 (2)

cripkd (709136) | about a year ago | (#44120423)

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 (1)

somersault (912633) | about a year ago | (#44120737)

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

Re:Really Interesting (1)

cripkd (709136) | about a year ago | (#44120835)

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 (0)

Anonymous Coward | about a year ago | (#44121113)

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 (1)

somersault (912633) | about a year ago | (#44121691)

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 (1)

slew (2918) | about a year ago | (#44121739)

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 (1)

ArhcAngel (247594) | about a year ago | (#44121849)

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

Father of the Year (4, Insightful)

Anonymous Coward | about a year ago | (#44120289)

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 (0)

deego (587575) | about a year ago | (#44120339)

>> illegal invader of iraq leaving thousands of kids fatherless former PM John Howard

Iraqi kids count as kids as well. ;-). Thus, the figure should be more like "hundreds of thousands."

Re:Father of the Year (0)

Anonymous Coward | about a year ago | (#44121221)

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 (0)

Anonymous Coward | about a year ago | (#44121461)

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... (1)

atari2600a (1892574) | about a year ago | (#44120303)

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

liberalism is these disease (-1)

Anonymous Coward | about a year ago | (#44120361)

This is what happens when you raise your children as vegans.

Re:liberalism is these disease (2)

ciderbrew (1860166) | about a year ago | (#44120619)

So you think genetic conditions are caused by diet?

Re:liberalism is these disease (2, Funny)

Anonymous Coward | about a year ago | (#44121301)

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?

Re:liberalism is these disease (2)

rossdee (243626) | about a year ago | (#44122095)

"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

Seriously? (3, Insightful)

Anonymous Coward | about a year ago | (#44120387)

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? (1)

cripkd (709136) | about a year ago | (#44120425)

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

Re:Seriously? (1)

SuricouRaven (1897204) | about a year ago | (#44120673)

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

Re:Seriously? (2)

cripkd (709136) | about a year ago | (#44120811)

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

Re:Seriously? (3, Insightful)

mister2au (1707664) | about a year ago | (#44120489)

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? (0)

Anonymous Coward | about a year ago | (#44121071)

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? (1)

MiniMike (234881) | about a year ago | (#44121235)

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

Re:Seriously? (1)

idontgno (624372) | about a year ago | (#44121631)

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? (2)

HungryMonkey (1887382) | about a year ago | (#44121951)

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."

News for Nerds. Stuff that Matters: (0)

Anonymous Coward | about a year ago | (#44120501)

Check and Check.

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

Old Links (3, Informative)

necro81 (917438) | about a year ago | (#44120657)

I remember first reading about this guy, his daughter, and his DIY genomics in Make [makezine.com] and Wired [wired.com] 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 (0)

Anonymous Coward | about a year ago | (#44120727)

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 (0)

Anonymous Coward | about a year ago | (#44120975)

This reminds me of Lorenzo's Oil

"Hallelujah"? (0)

Anonymous Coward | about a year ago | (#44121423)

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"? (0)

Anonymous Coward | about a year ago | (#44121591)

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"? (0)

Anonymous Coward | about a year ago | (#44122203)

Tell that to Job. He only praised the Lord.

wait, what? (2)

slashmydots (2189826) | about a year ago | (#44121479)

"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? (4, Informative)

the gnat (153162) | about a year ago | (#44121683)

"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!)

Please proofread before posting. (2)

azav (469988) | about a year ago | (#44121653)

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. (1)

XcepticZP (1331217) | about a year ago | (#44122211)

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