Monday, 2 February 2009

One father's epic quest to save his daughter

quote [ Whenever he has a spare moment, Rienhoff sequesters himself in this cluttered, carpeted room and sifts through his daughter's DNA, one nucleotide at a time. ]

This guy is a genetic scientist. His daughter has a genetic abnormality that couldn't be diagnosed, so he has taken on the huge task of crawling through his daughter's DNA in the hope that he can find the problem.
[by iqqy@9:15pmGMT] [+10 Interesting]

Comments

kang said @ 9:17pm GMT on 2nd Feb
When I first read the title, I thought, "Hey I just saw that movie."
Baxter_UK said @ 9:27pm GMT on 2nd Feb
I imagined it being dropped a few octaves and being preceded by 'Coming this Fall ... '
iqqy said @ 10:13pm GMT on 2nd Feb
Right I'm moving to HHHHollywood. Successful career as a writer of boring cliche, here I come!
Aidentas said @ 10:38pm GMT on 2nd Feb [Score:5 Funny]
He has a particular set of skills. Skills that make me a nightmare for abnormalities in DNA.
kang said @ 1:26pm GMT on 3rd Feb
Protagonist: Mr. Sense

Antagonist: Ms. Sense
jetimus said @ 10:41pm GMT on 2nd Feb
http://www.imdb.com/title/tt0104756/
not a bad flick
Baxter_UK said @ 10:50pm GMT on 2nd Feb
Taken.
blacksun said @ 12:11am GMT on 3rd Feb
agh, I just watched that. Decent action but an insulting and minimal plot.
pleaides said @ 12:15am GMT on 3rd Feb
I thought it was great fun, if predictable, but I wasn't expecting a tour-de-force of writing genius.

As a Dad, I was throwing air punches every time he fucked those dudes up.
tomecat said @ 11:13pm GMT on 2nd Feb
Actually, this one came to my mind:
http://www.imdb.com/title/tt0963194/
I thought it was a pretty good movie myself.
Baxter_UK said @ 9:34pm GMT on 2nd Feb [Score:2]
"Whenever he has a spare moment, Rienhoff sequesters himself in this cluttered, carpeted room and sifts through his daughter's DNA, one nucleotide at a time."

Really, who cares if the room is carpeted? It's nonsense description-filler.

Just write to the point. Do a Hemingway. (I don't mean shoot yourself in the face with both barrels of a shotgun.)
robotroadkill said @ 10:06pm GMT on 2nd Feb
Or cluttered!
Spleen23 said @ 10:18pm GMT on 2nd Feb [Score:1 Informative]
Do you know how hard it is to find a nucleotide when you drop it on carpeting? DNA work is best done on a tile or hardwood floor.
Equinophobe said @ 9:41pm GMT on 2nd Feb
I just finished rerereading Hyperion Cantos.

So +1 for you any anyone else who immediately understands why i made the connection.
robotroadkill said @ 10:08pm GMT on 2nd Feb
It's because characters in Hyperion Cantos and the people in the story both have DNA.

Bring on the karma.
radioelectric said @ 1:15am GMT on 3rd Feb
Because you wanted to find out who else had read Hyperion Cantos?
Lord of the Barnyard said @ 2:16am GMT on 3rd Feb
is anything past hyperion itself any good? the terror was amazingly good.
Misanthrope said @ 2:19am GMT on 3rd Feb
Isn't her father a bioandriod or something?
Misanthrope said @ 2:26am GMT on 3rd Feb
Never mind thats not backwards in time girl.
KropperPrime said @ 10:01pm GMT on 2nd Feb [Score:2 Insightful]
Good luck with that.

It is like looking at Windows compiled binary code and try to find out why it is so shitty.
Narrenschiff said @ 1:26am GMT on 3rd Feb
I wonder why he doesn't hire a bioinformatics guy or even just a regular CS person and use a program to find irregularities.
Misanthrope said @ 2:18am GMT on 3rd Feb
Not at all familiar with genetics or anything, but I'm pretty sure there are countless irregularities in our genes. Part of that evolution thing I think.
soulecho said @ 2:24am GMT on 3rd Feb
There is a bioinformatics program called BLAST that does sequence comparisons. I can't imagine that he wouldn't know about it, given his demonstrated skill set... Especially considering that BLAST searches are something you have to do in a genetics 101 course these days.
Narrenschiff said @ 9:33am GMT on 3rd Feb
Well, you wouldn't use BLAST for this, it's a sequence similarity finder, not a irregularity finder.
valen85 said @ 10:04pm GMT on 2nd Feb
His PgDn key must get worn out real fast.
pleaides said @ 11:05pm GMT on 2nd Feb [Score:3 Insightful]
You've gotta admire his determination, I mean REALLY admire it.

What a fucking legend. THAT"S FATHERHOOD RIGHT THERE!
fuckb4ll said @ 12:02am GMT on 3rd Feb
psychotim said @ 12:05am GMT on 3rd Feb [Score:3 Funny]
Let's see:

Adenine, thymine, thymine, guanine, thymine, adenine, thymine, guanine, adenine, adenine, guanine, adenine, guanine, thymine, adenine, adenine... sucralose?
mwoody said @ 12:53am GMT on 3rd Feb
If this were a movie, he'd suddenly realize that her genetic disorder somehow magically gives her the savant ability to process genetic code extremely quickly.

And they'd be sexy.
maryyugo said @ 2:19am GMT on 3rd Feb
i don't see how this works-- what is he comparing the sequences to? how does he know where he is within the genome? how does he know what any set of bases actually means and whether it's normal or not?

if he can do the above-- amazing. i didn't know the science had advanced that far.
Misanthrope said @ 2:24am GMT on 3rd Feb
tl;dr I assume.
Compared to this
maryyugo said @ 5:03pm GMT on 3rd Feb
uhhun... but that assembly doesn't necessarily say what is normal and how different sequences may cause defects. it seems like a pretty desperate scavenger hunt with a very small likelihood of success in discovering the problem, much less in fixing it. still, i wish him luck!
Nostrildamus said @ 12:00pm GMT on 3rd Feb
Because he's a genetic scientist and is much, much smarter than you.
yevishere said @ 2:45am GMT on 3rd Feb [Score:3 Informative]
Well,
This is actually my job. The thing is, he is approaching the problem all wrong. With the 100k dollar budget he can actually run her genome on one of the new sequencing machines that can sequence a human in a week. Then, run all that sequence through a supercomputing cluster to start trying to pin point the problem. The thing is, there are many nucleotide variations that could potentially cause the problem. Even if you sequence one of them, you might be looking at it and have no idea that it is actually the cause of the disease.
The right way to approach the problem is to start with the DNA of >100 little girls with an identical disease. Then, I could sequence all of them and compare them to 100 normal girls. Then, you want to look at the mutations they have in common that the normal girls do not have. This is called a Genome Wide Association Study. The budget for this would be approximately 5-10 million dollars.
However, people estimate that in 10 years we will be able to do genome sequencing for less than 1k a person. Then the budget for this study will drop to 100k total. That may be something this guy can afford. The biggest problem however is this: Even if you know what the problem is, you might not know what the solution is. The solution might end up being genetic therapy, stem cell therapy, or developing a specific drug. Developing such a therapy costs > $100 million dollars today with no guarantee of success.

This guy has a long road ahead of him.
yevishere said @ 3:04am GMT on 3rd Feb
Hmm, the transcriptome is a good idea, but I am doubtful it will work.
I think a better idea would be doing microarray analysis on her muscle biopsy. That would be a good bang for the buck. I think it could be done for less than 5k. She could make a nice PhD thesis for someone =).
donnie said @ 8:35am GMT on 3rd Feb
I think it's pretty obvious from reading the article that

1) No such 100 girls are known to exist.
2) This is the desperate and borderline irrational act of a distraught father.

He's doing it for himself, not for his daughter. He can't stand feeling like he's incapable of "doing something" about it, so he is.
maryyugo said @ 5:05pm GMT on 3rd Feb
just this time, i agree with donnie. still, some people equally desparate have come up with things-- google lorenzo's oil for reference to one.
maryyugo said @ 5:05pm GMT on 3rd Feb
thanks-- basically what i said above less cleverly.
happyman said @ 6:11am GMT on 3rd Feb
I hope this guy finds what he's looking for in due time. This is devotion if there ever was a living definition of it.
sacrelicious said @ 6:43am GMT on 3rd Feb
Daughter Quest was a little known Sierra point-and-click title back in the early nineties.
KingPellinore said @ 3:33pm GMT on 3rd Feb
Yeah, and if you didn't pick up the rag doll at the very beginning, you could play to the very end of the game, but couldn't win.
superargo said @ 6:53am GMT on 3rd Feb
I crawled through his daughter's DNA last night.
Vernes said @ 1:21pm GMT on 3rd Feb [Score:2 Insightful]
Wait a minute... THIS is how evil geniuses are born!
When his daughter dies dispite his effort, he will turn his back on the world and will try to get vengence through his army of mutant monsters!

...
I need to know where I can apply as henchmen!
KingPellinore said @ 3:36pm GMT on 3rd Feb [Score:1 Insightful]
Here?


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