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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."
Alas, this kind of origin story is less suited to a superhero, more suited to a supervillain.
Good to see people bucking the trope.
Check out my sci-fi book "Lacuna" at http://goo.gl/MVxX8
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.
Curiously yours, crip.
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.
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
Muchas Gracias, Señor Edward Snowden !
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.
...that he went all Lorenzo's Oil on me until he invented a new disease.
Do you have to work at being a dipshit or does it just come naturally to you?
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?
The blog of Dr. Matt Might (U of U) documents a similar case. http://matt.might.net/articles/my-sons-killer/
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.
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.
Curiously yours, crip.
i'm pretty sure dipshit is a genetic disorder... i have a huge lab in my basement that told me so
So you think genetic conditions are caused by diet?
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.
That doesn't say "all sex partners", it says any partners that she's had a baby with. Which is quite an important distinction..
which is totally what she said
All variance is caused by "malfunction" in the genetic process.
which is totally what she said
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".
Curiously yours, crip.
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?
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.
When our name is on the back of your car, we're behind you all the way!
"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?
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.
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.
- Zav - Imagine a Beowulf cluster of insensitive clods...
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.
which is totally what she said
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)
Remember...one man's malfunction is Microsoft's feature.
"A person is smart. People are dumb, panicky dangerous animals and you know it." - K
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.
searching for vaccines and autism turns up a lot of hits too. Despite being debunked multiple times.
Any insufficiently advanced magic is indistinguishable from technology.
"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
The hell you on about? The guy said nothing about prevention.
No. But comments like this are all malfunctions in information gathering.
Don't complain about syntax, grammar, or spelling. There is no.hell like input on android.
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."
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.
Actually it says the DNA is from the baby not from the partner, an even more important distinction.
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
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?)
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!
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.
It was the milkman.
systemd is Roko's Basilisk.
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.
"A government is a body of people usually -- notably -- ungoverned." -Shepherd Book
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.
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.
Birds are not dinosaur descendants;birds are dinosaurs, for all useful meanings of "birds", "are" and "dinosaurs"
(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.)
Birds are not dinosaur descendants;birds are dinosaurs, for all useful meanings of "birds", "are" and "dinosaurs"