First Children Have Been Diagnosed In 100,000 Genomes Project (bbc.com)

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First Children Have Been Diagnosed In 100,000 Genomes Project (bbc.com)

Posted by timothy on Tuesday January 12, 2016 @03:27AM from the steps-into-the-future dept.

Zane C. writes: The 100,000 Genomes project, an organization dedicated to diagnosing and researching rare genetic disorders, has just diagnosed its first 2 patients. After painstakingly analyzing about 3 billion base pairs from the parents of one young girl, and the girl herself, "doctors told them the genetic abnormality — in a gene called KDM5b — had been identified". The new information will not yet change the way the young girl, named Georgia, is treated, but it opens up a path for future treatments. For the other girl, Jessica, the genetic analysis provided enough information to diagnose and begin a new treatment. A mutation had occurred "[causing] a condition called Glut1 deficiency syndrome in which the brain cannot get enough energy to function properly." Jessica's brain specifically had not been able to obtain enough sugar to power her brain cells, and as such, doctors prescribed a high fat diet to give her brain an alternate energy source. She has already begun showing improvement.

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Good luck ... by gstoddart · 2016-01-12 03:33 · Score: 4, Interesting

And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.
Medical technology is growing FAR faster than either medical ethics, or the laws surrounding what can be done with this information.
In 20 years when she has issues related to the high-fat diet they'll tell her they can't insure her, and some asshole corporation will claim to own the genes and therefore any possible treatment.
These days you have to ask yourself ... just who is going to profit from this, and in how many ways is this girl going to be denied services?

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Lost at C:>. Found at C.
1. Re:Good luck ... by Anonymous Coward · 2016-01-12 03:49 · Score: 0
  
  And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.
  That's the American way. Next step is euthanize to remove the mutants from the gene pool, until we're left with a perfect race. I'm pretty sure someone tried this once before...
2. Re:Good luck ... by Anonymous Coward · 2016-01-12 03:53 · Score: 0
  
  You are the asshole, not him. He never suggested that we stop research but rather we curb the ability for insurance companies to use this against you. You read that into his post.
3. Re:Good luck ... by Anonymous Coward · 2016-01-12 03:59 · Score: 0
  
  Medical technology is growing FAR faster than either medical ethics,
  
  Hippocrates had a pretty good and solid standard of medical ethics, the only part I remember the translation of is his primary rule: "do no harm."
  
  or the laws surrounding what can be done with this information.
  That's the part where the real problem sneaks in. Properly, all medical discovery about a patient is restricted by a big bundle of legislation that prevents anyone from using any of that information for any purpose other than diagnosis and determining treatment. In practice, it isn't that secure and there are leaks. Insurance bureaucracies (corporate or governmental) look for every excuse not to pay, and often get into data that they are not supposed to access, but have some tricks to avoid actual criminal behavior. Some employers (possibly most, but not all) find ways to get information about what treatments employees are taking, backtrack that to their common uses, and then find ways to use that information against the employees.
4. Re:Good luck ... by interval1066 · 2016-01-12 03:59 · Score: 2
  
  The whole point of this is to avoid that sort of thing. You can say a lot about the US but the one thing we've got going here are legions of researchers looking for ways to make people healthier, and not go the euthanasia route. No matter what it costs.
  
  --
  Python: 'And then suddenly you have a language which says "we're all stuck with whatever the whiniest coder wants".'
5. Re:Good luck ... by Gr8Apes · 2016-01-12 04:00 · Score: 1
  
  Human genes cannot be patented.
  
  --
  The cesspool just got a check and balance.
6. Re:Good luck ... by Anonymous Coward · 2016-01-12 04:03 · Score: 0
  
  And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.
  Medical technology is growing FAR faster than either medical ethics, or the laws surrounding what can be done with this information.
  In 20 years when she has issues related to the high-fat diet they'll tell her they can't insure her, and some asshole corporation will claim to own the genes and therefore any possible treatment.
  These days you have to ask yourself ... just who is going to profit from this, and in how many ways is this girl going to be denied services?
  You are about two years out of date. Since 2014, due to the Patient Protection and Affordable Care Act (a.k.a. Obama-Care), health insurance plans have been prohibited from denying coverage for any medical treatment due to any pre-existing condition. Furthermore, affordably subsidized individual health care plans are available to all Americans via a high-tech government-run web site. The health care system has been fundamentally transformed and that is why you need never worry about receiving affordable health care ever again.
7. Re:Good luck ... by Zontar_Thing_From_Ve · 2016-01-12 04:07 · Score: 1
  
  And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.
  Actually in the USA the Affordable Care Act (aka Obamacare) specifically prevents insurance companies from denying coverage because something is a "pre-existing condition". The article linked to seems to imply that the girl lives in the UK so ACA/Obamacare worries are not in play anyway. I can't speak to whether some company would patent her genes in the UK as I don't know the law there, but off the top of my head I would guess that European privacy laws would likely prevent that.
8. Re:Good luck ... by Anonymous Coward · 2016-01-12 04:08 · Score: 0
  
  You are about two years out of date. Since 2014, due to the Patient Protection and Affordable Care Act (a.k.a. Obama-Care), health insurance plans have been prohibited from denying coverage for any medical treatment due to any pre-existing condition.
  And thankfully, there are no republicans in congress trying to repeal that act. God help us if they maintain that control AND win the presidency.
9. Re:Good luck ... by Anonymous Coward · 2016-01-12 04:11 · Score: 0
  
  1) Health insurers in the US are prohibited from denying coverage based on pre-existing conditions thanks to the Affordable Care Act, aka "Obamacare".
  2) The US Supreme Court decided unanimously in 2013 that naturally occurring gene sequences cannot be patented; see Association for Molecular Pathology v. Myriad Genetics.
10. Re:Good luck ... by the+gnat · 2016-01-12 04:12 · Score: 1
  
  In 20 years. . . some asshole corporation will claim to own the genes and therefore any possible treatment.
  Aside from the unpatentability of genes in the US, the patent term is less than 20 years anyway.
11. Re:Good luck ... by Dcnjoe60 · 2016-01-12 04:15 · Score: 2
  
  And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.
  That's the American way. Next step is euthanize to remove the mutants from the gene pool, until we're left with a perfect race. I'm pretty sure someone tried this once before...
  That is only recently the American way. Previously, medical advances/techniques weren't patented. Polio would still be a problem, as would most advances in medicine in the past 100 years if today's American way was also yesterdays.
12. Re:Good luck ... by pastafazou · 2016-01-12 04:19 · Score: 1
  
  Maybe you haven't been following the news lately, but the Republicans won't need to repeal it, as it's imploding all on it's own. http://www.washingtonexaminer....
13. Re:Good luck ... by Dcnjoe60 · 2016-01-12 04:21 · Score: 2
  
  Medical technology is growing FAR faster than either medical ethics,
  Hippocrates had a pretty good and solid standard of medical ethics, the only part I remember the translation of is his primary rule: "do no harm."
  Too bad doctors stop taking the Hippocratic oath, at least in the US and now do a Declaration to Geneva. As such, they no longer profess to do no harm. It is more about not discriminating than doing no harm.
14. Re:Good luck ... by EvilSS · 2016-01-12 04:26 · Score: 2
  
  In most states in the US genetic testing done during the course of a medical diagnosis is protected from insurance discrimination. Important to note that the testing needs to be done at the order of a doctor, then the information obtained and given to the patient. Going the other way (patient initiated testing disclosed to the doctors) may trigger a loophole found in many of the laws where the protection does not apply when the information is provided voluntarily by the patient. When I did 23 and me I discussed with with my doctor, but we both agreed to keep it "off the record" because of this very situation. It was more of an interesting new tech thing for the doctor anyway (I don't have any known genetic diseases so not much to be done with it).
  
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  I browse on +1 so AC's need not respond, I won't see it.
15. Re:Good luck ... by Anubis+IV · 2016-01-12 04:29 · Score: 1
  
  Medical technology is growing FAR faster than either medical ethics, or the laws surrounding what can be done with this information.
  No, the technology is growing faster than your awareness of the changes to medical ethics and law. For instance, it's quite apparent that you're unaware of the 2008 Genetic Information Nondiscrimation Act, which specifically prohibits exactly the sort of behavior you're talking about. It's been the case for nearly a decade that insurers are prevented from denying coverage on the basis of a disorder that has been detected via genetic testing but that has not yet presented any symptoms.
  And medical practitioners and lawmakers (not to mention the general public; see: Gattaca) have been considering the ethics surrounding these questions for decades. We, as a society, are still sorting through all of the ramifications, of course, but suggesting that the laws and ethics are behind the tech seems wrong to me. If anything, I'd suggest that the ethics and laws have been ahead of the tech when it comes to most of these questions, with a clear path marked for what's considered acceptable by the time the tech is ready for widespread use.
16. Re:Good luck ... by Anonymous Coward · 2016-01-12 04:33 · Score: 0
  
  What issues with a high fat diet? By all not-junk research, high-fat diets are perfectly healthy. Healthier than the official diet endorsed by the government you clearly (and rightfully) distrust.
17. Re:Good luck ... by RDW · 2016-01-12 04:44 · Score: 1
  
  And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.
  This is a publicly funded project in the UK, which has universal healthcare free at the point of delivery (the NHS). Any IP will be owned by Genomics England, a company owned by the UK Government. They intend to set up licensing agreements with the commercial sector on 'favourable terms'. These terms aren't precisely defined, at least publicly, and I imagine the drug and medical testing companies (who must pay to join a consortium with Genomics England if they want to work with them) may have a different definition of 'favourable' to the IP holders! The intention is presumably to make sure that the NHS doesn't get screwed in the process, but we'll see how this works out in practice. The Conservative Government has something of a conflict of interest between wanting to spend as little as possible on the NHS, while also promoting the UK pharma and genomics industry.
18. Re:Good luck ... by Zaowulf · 2016-01-12 04:53 · Score: 2
  
  ACA has nothing to do with patients and everything to do with insurers and special interests protecting their bottom line. Calling the plans available on the exchange affordable is a joke. And calling that site high-tech is a flat-out lie. I've tried to sign up multiple times. I was told twice that my account didn't exist, despite having confirmation emails from just a few days prior. When I lost my coverage due to not having a job and checked the site again, I was told I was ineligible for coverage. A rep confirmed that that was incorrect but said there was nothing they could do about it.
19. Re: Good luck ... by Anonymous Coward · 2016-01-12 04:53 · Score: 0
  
  That's only really an American issue since the Uk health system is publicly funded.
  Genetic illness falls under NHS treatment, unless it is just mild visual deformation.
  Some people want it revised because visuals directly affect employment opportunities. (Which my friend suffered from for years due to severe acne issues, not even a huge thing)
  But there are cases where it can be abused, like blatantly silly things such as general plastic surgery.
  It'd be easy to prevent abuses like that, since there is a very simple separation between fixing and improving visual appearance, but politicians are fucking grade A retards.
20. Re:Good luck ... by smooth+wombat · 2016-01-12 04:59 · Score: 2
  
  Furthermore, affordably subsidized individual health care plans are available to all Americans via a high-tech government-run web site.
  
  Yes, those plans are so affordable their costs are skyrocketing by double digits in many cases.
  
  So while I have to be leeched off by the smokers, drug users, alcoholics and obese, who never have to change their ways because someone else gets to pick up the tab, the costs keep rising and the insurance companies keep getting richer.
  
  Which is not unexpected. When you have a captive audience you can charge almost what you want because people are forced to hand over their money to a private company. Quite an odd situation to be in considering all the anti-government/big government/thieving business rantings on this site. One wouldn't expect people to be so happy to give corporate CEOs that much more money.
  
  --
  We will bankrupt ourselves in the vain search for absolute security. -- Dwight D. Eisenhower
21. Re:Good luck ... by parkinglot777 · 2016-01-12 05:05 · Score: 1
  
  For now... You don't know when they are going to redefine the definition as they did before on other types of genes...
22. Re:Good luck ... by Anonymous Coward · 2016-01-12 05:13 · Score: 0
  
  "The whole point of this is to avoid that sort of thing. You can say a lot about the US but the one thing we've got going here are legions of researchers looking for ways to make people healthier, and not go the euthanasia route. No matter what it costs."
  And the US being the US, THAT's the problem right there. Any treatment derived will be patented by whatever company financed the research and sell it at such a price the patient will literally be paying for it for the rest of their life - assuming they can afford it even then.
23. Re:Good luck ... by Anonymous Coward · 2016-01-12 05:28 · Score: 0
  
  p>Medical technology is growing FAR faster than either medical ethics, or the laws surrounding what can be done with this information.
  Personal genome sequencing is about where personal computers were in the 1980s.
  Sure, there was the hype claiming that personal computers would lead to self-aware AI. And today there's the hype claiming that personal genome sequencing will cure aging.
  But if you actually look at what happened with personal computers, most of the advances were things that already existed in narrow research contexts (e.g. email) - but that them got rolled out on a large scale. And that's more or less what we can expect with personal genomics: diagnosis and treatments that are currently only available in limited research contexts will become widely available.
  Certainly, there were some companies with questionable ethics that made lots of money off of the personal computer revolution. And that's also likely to happen with personal genome sequencing. But it's unlikely to be total doom and gloom either - just the usual annoyance of knowing that you're getting shafted by the man far more than is even remotely fair.
24. Re:Good luck ... by Anonymous Coward · 2016-01-12 05:30 · Score: 0
  
  What a strange response given that we 'euthanize' millions of babies every year (world wide btw not just the 'American way') 'just because we want to'...e.g. legalized abortion...so yeah why would it NOT be ok to have an abortion if you know the growth in the mother is not healthy?
25. Re:Good luck ... by crmarvin42 · 2016-01-12 05:31 · Score: 2, Interesting
  
  You all seem to be missing that the 100,000 Genome project is based in the UK, not the US. US insurance policy won't affect her. Even if she emigrated to the US later in life, the "Pre-existing conditions" copout has been removed under the Affordable Care Act (ACA, or Obama care).
  
  Being jaded and conspiratorial may make you feel cool, but at least make sure you've got your basic facts right first. Otherwise you just look like a stark raving fool.
  
  --
  Bureaucracy expands to meet the needs of the expanding bureaucracy.-Oscar Wilde
26. Re:Good luck ... by Anonymous Coward · 2016-01-12 05:37 · Score: 0
  
  This is some REALLY good sarcasm! I must commend you, very well done.
27. Re:Good luck ... by sjames · 2016-01-12 05:50 · Score: 2
  
  It really wasn't. You could as easily read it as a call to ban patenting genes found in people or to ban insurance companies taking your genetics into account, or even a call to ban insurance and socialize healthcare.
28. Re:Good luck ... by sjames · 2016-01-12 05:52 · Score: 1
  
  No, but using the information from them for any meaningful purpose can and has been.
29. Re:Good luck ... by fahrbot-bot · 2016-01-12 06:42 · Score: 1
  
  And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.
  Actually in the USA the Affordable Care Act (aka Obamacare) specifically prevents insurance companies from denying coverage because something is a "pre-existing condition".
  And I hope that all the people who want to repeal the ACA remember that ... Though -- to be fair -- sometimes (usually?) proof of continuous insurance coverage satisfies the waiting period for pre-existing conditions, so it may be a wash. I imagine that there are other things in the ACA that people will actually miss, once they're gone (like dependents using their parent's insurance until age 26) ...
  
  --
  It must have been something you assimilated. . . .
30. Re:Good luck ... by fropenn · 2016-01-12 07:38 · Score: 1
  
  Sure, you pay for the smokers, drug users, alcoholics, and obese now...but if you get cancer or get hit by a bus then they will be paying for you. See how that works?
  
  The ACA also has requirements on the portion of premiums insurance companies are required to spend on care, which limits the predatory profit approach you describe by insurance companies (https://www.healthcare.gov/health-care-law-protections/rate-review/).
31. Re:Good luck ... by Anonymous Coward · 2016-01-12 08:09 · Score: 0
  
  And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.
  Sounds like a legacy problem specific to the US.
  Placing insurance companies between people and healthcare only works when you know more about your medical conditions than the insurance company does.
  If the health care is going to be tax funded anyway the insurance company is just a middle man that siphons money out of the system without providing anything, the cost distribution is already done.
32. Re:Good luck ... by Anonymous Coward · 2016-01-12 08:15 · Score: 0
  
  Pssh. Thanks, Obama.
33. Re:Good luck ... by Anonymous+Cow+Ward · 2016-01-12 08:49 · Score: 1
  
  A company can't patent her genes. Companies can (and do) patent tests for genes, or synthetic genes they created, but not hers. Also, wasn't a big part of Obamacare the new stipulation that insurance companies can't deny you coverage due to pre-existing conditions?
  
  --
  Examine even your most deeply held beliefs. Nobody is always right.
34. Re:Good luck ... by smooth+wombat · 2016-01-12 09:02 · Score: 1
  
  I can pay for my own medical care.
  See how that works?
  
  --
  We will bankrupt ourselves in the vain search for absolute security. -- Dwight D. Eisenhower
35. Re:Good luck ... by JesseMcDonald · 2016-01-12 09:08 · Score: 1
  
  Sure, you pay for the smokers, drug users, alcoholics, and obese now...but if you get cancer or get hit by a bus then they will be paying for you. See how that works?
  False equivalence. The expected cost (risk times cost) which you pay for them is higher than the expected cost which they pay for you. It doesn't balance out. You are paying more than you should because the insurance company isn't allowed to set proper premiums which reflect each customer's actuarial risk.
  
  --
  "The state is that great fiction by which everyone tries to live at the expense of everyone else." - Bastiat
36. Re:Good luck ... by Applehu+Akbar · 2016-01-12 10:16 · Score: 1
  
  "some asshole corporation will claim to own the genes and therefore any possible treatment."
  Problems with the legal system are not faults of the technology. We are breeding too many lawyers, which is also not a problem with the technology.
37. Re:Good luck ... by Applehu+Akbar · 2016-01-12 10:23 · Score: 2
  
  The problem with ACA is that it while it makes an initial attempt at bringing more people into the insurance system, it does nothing to control cost. It needs to be modified to allow governments - any government that pays for health care - to buy in bulk and negotiate on the worldwide market. Just as importantly, the same power should be extended to private buying organizations, including groups of patients.
38. Re:Good luck ... by Gr8Apes · 2016-01-12 11:30 · Score: 1
  
  I believe that's limited to specific testing techniques. That BRAC1 is related to increased breast cancer risk has no meaningful restriction on it.
  
  --
  The cesspool just got a check and balance.
39. Re:Good luck ... by Duncan+J+Murray · 2016-01-12 11:31 · Score: 2
  
  Hang on...
  The data for the 100'000 genomes project is held securely as confidential data and is not available to companies. Not that I'm sure what they'd be patenting anyway.
  Luckily this child lives in the UK, so there is no need to worry about being denied medical care for her condition.
  Just understanding the mutation is a long step from being able to do something about, so yes, maybe sometime in the future there will be a patented and very expensive treatment available (or not available as the case may be). However, if someone else wants to develop that treatment and provide it cheaply no one is stopping them. This is not how I'd like the world of pharma to work, but unless a democracy are consciously happy to pay a lot of taxes into a high-risk world of pharmaceutical development, it isn't going to change soon.
40. Re:Good luck ... by Anonymous Coward · 2016-01-12 12:08 · Score: 1
  
  It is already illegal to patent genes found in people. It is already illegal for insurance companies to take your genetics into account.
41. Re:Good luck ... by Anonymous Coward · 2016-01-12 15:02 · Score: 0
  
  you also pay for car drivers and bike drivers and pedestrians crossing the roads. All these people have increased chances of accidents and, hence, paid care!
42. Re:Good luck ... by ChrisMaple · 2016-01-12 17:19 · Score: 1
  
  You've never heard the phrase "patent medicine"? Granted, it usually applied to "snake oil", but the concept has long been valid. For example, U.S. patent 2834711 (1958) is a production method for bacitracin, a continuation of an abandoned patent application first made in 1953.
  
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43. Re:Good luck ... by Dcnjoe60 · 2016-01-13 03:36 · Score: 1
  
  You've never heard the phrase "patent medicine"? Granted, it usually applied to "snake oil", but the concept has long been valid. For example, U.S. patent 2834711 (1958) is a production method for bacitracin, a continuation of an abandoned patent application first made in 1953.
  Patent medicines were never patented, they were trademarked. Bacitracin was first discovered to be an antibiotic in the early 1930s. Like penicillin, it occurred naturally. And was pretty effective. The patent you are referring to was for a way to produce it in greater quantities. In reality, it was about culturing and growing it on a larger scale. That patent didn't prevent anybody from producing it the old way.
  Today's drug patents can't be separated from the process to produce them. You cannot come up with a different method to produce them. 100 years ago, this would be unthinkable. Today's pharmaceuticals are more like the former patent medicine/snake oil sellers, trying to bilk the public for whatever they can get. But back then, real pharmaceutical research was about doing things for the common good.
44. Re:Good luck ... by KingMotley · 2016-01-13 04:06 · Score: 0
  
  Or ban insurance companies, and everyone goes back to paying for their own stuff.
45. Re:Good luck ... by thoughtlover · 2016-01-13 06:51 · Score: 1
  
  And now a company will patent her genes...
  Nope. Not unless her mutation isn't found in nature and had to be manipulated to be created.
  From SCOTUS' ruling in 2013 about BRCA1/2: "A naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated."
  
  --
  No sig for you! Come back one year!
46. Re:Good luck ... by Anonymous Coward · 2016-01-14 01:52 · Score: 0
  
  Sure, you pay for the smokers, drug users, alcoholics, and obese now...but if you get cancer or get hit by a bus then they will be paying for you. See how that works?
  
  What now?
  The premise you agree to initially: The above people are paying in less to the system than they require in care; therefore, "you" pay for them.
  You then propose: "You" get cancer or hit by a bus...which suggests that now "you" now also pay in less to the system than you require in care.
  Your conclusion: Is then that the intial grouping of people now somehow pay for "you['re]" care.
  That doesn't make any sense...instead it means you now have ADDITIONAL people who aren't paying for their healthcare. So now there is a previously mentioned third party...let's call them "Me". "Me" now pays for all listed parties (plus "Me-self"). So "Me" is getting screwed.
  If only there was a way to ecourage (not force) smokers, drug users, alcoholics, and the obese to change their unhealthy habbits so that not only would "Me" not have to pay for their additional health care costs due to these habbits, but the reduced stress on the healthcare system could provide better care. They may also be more productive and live healthier for a longer period, meaning they will pay in to the system in a nuetral to positive way for a longer period, reducing the overall financial burden. I'm just spit-balling here, but what do you think about maying charging people more like,smokers, drug users, alcoholics, and obese, who are going to have higher risk? If they want to keep the dangerous habbits, thats fine, they can pay for the additional costs. If they don't want to pay the additional costs, they can stop the behaviors. I think I'm on to something...seriosuly, doesn't this sound like a good idea? I'm not sure why no one thought of it before. I think I'm going to write a letter to Obama to let him know I figured out the solution which can save Obamacare! It will reduce costs AND encourage people to live healthier lifesystles! Win Win! Even the "freedom nuts" will be happy, because they can still choose to engage in unhealthy behavior, the government isn't forcing them to change their lifesytle! And the conservatives should be happy because it will reduce governmental costs, and therefore size and control. And with the lower costs, it will be easier to include more people and provide more care so the Progressives will be happy! I mean seriously, I think this AC should run for POTUS next cycle! Oh wait...whats that? We just had that system? And all those groups were unhappy? I don't get it....how was that any worse than what we have now?! Oh well, maybe 2024 will be my year then.
Re:Hey by gstoddart · 2016-01-12 03:38 · Score: 0

We are all moocow guy. Moo you damned moocow guys, MOO!!
You too can be moocow guy!

--
Lost at C:>. Found at C.
Re:Hey by Errol+backfiring · 2016-01-12 03:58 · Score: 1

He's trying the high fat diet, I suppose.

--
Nae king! Nae laird! Nae yurrupiean pressedent! We willna be fooled again!
How can this be possible??! by Anonymous Coward · 2016-01-12 04:10 · Score: 0

Everyone knows its all calories in calories out every calorie is the same!
1. Re:How can this be possible??! by pastafazou · 2016-01-12 04:23 · Score: 1
  
  Sure, every calorie is the same, but not every source of calories is the same. 1lb of potatoes is 350 calories. 1lb of sugar is 1750 calories.
2. Re:How can this be possible??! by Anonymous Coward · 2016-01-12 04:48 · Score: 0
  
  In the case of Jessica it is not the calories but how they are delivered. We have two sources of energy (yes I know there are more, but bear with me): lipids (fat) and glucose (sugar). The brain readily uses glucose, but glucose is not always available. After not eating for bit we deplete our glucose stores and the organism switches to stored fat. Some cells use lipids directly for energy source (muscle for example, that's why exercise is good for you). Others like the cells in the brain are not that good at it. Here is where the liver kicks in. The liver takes lipids and converts them to glucose and keton bodies (acetoacetate and beta-hydroxbutyrate), all of which can be used as energy source by the brain. Jessica's brain cannot use glucose because it lacks a protein that transports the glucose into the cells, however ketone bodies work just fine. By feeding her ketogenic diet (bacon), they force her organism to use only fat as energy source (no sugar in the food) and her brain is fed ketone bodies from the liver. Problem solved (partially at least).
Re:Hey by Vermonter · 2016-01-12 04:24 · Score: 1

Or he *is* the high fat diet
Where did they find the changes? by tibit · 2016-01-12 04:57 · Score: 1

Were the mutations found in the genome or the exome? Is this project sequencing the entire genome, or just the exome? Given that exome mutations are thought responsible for 85% of genetic disease out there, wouldn't it be more useful to have a 100,000 exomes project first?

--
A successful API design takes a mixture of software design and pedagogy.
1. Re:Where did they find the changes? by Anonymous Coward · 2016-01-12 05:19 · Score: 0
  
  ...wouldn't it be more useful to have a 100,000 exomes project first?
  Whole genome sequencing is now down to about $1,000 per person (and can use DNA from just a milliliter or so of saliva). So, at this point, you might as well just sequence the whole genome - and diagnose an extra 15% of cases, so to speak.
2. Re:Where did they find the changes? by RDW · 2016-01-12 05:52 · Score: 1
  
  This project does whole genomes. Even at commercial rates, a 30x depth whole genome is only 2-3x more expensive than an equivalent exome (the difference may be smaller on the scale they are doing this, and sequencing is probably getting cheaper more quickly than target capture, narrowing the gap further). Genomes also give more even coverage at similar depth (capture bias means that some regions are never represented well in exomes, and it's possible to miss exonic mutations that are supposedly covered by the probe set). They are also looking to the future - the aim is to put the infrastructure in place so that genome sequencing can be used routinely by the NHS, they want to boost the UK genomics industry, and they'll have a very large well-documented data set that can be mined in the future.
3. Re:Where did they find the changes? by Anonymous+Cow+Ward · 2016-01-12 08:54 · Score: 1
  
  This project does the whole genome. Whole genome is arguably easier and more useful - it's easier in that collecting samples for a whole exome project would require a lot of different tissues, and technically speaking it's also a bit easier.
  
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  Examine even your most deeply held beliefs. Nobody is always right.
4. Re:Where did they find the changes? by Anonymous Coward · 2016-01-12 15:16 · Score: 0
  
  you make an assumption of linearity as regards source information, which would rather not hold true. the amount of process robustness and certainty that whole genome sequencing provides (and ability to cover future needs) is such, that it makes little sense not to do that.
5. Re:Where did they find the changes? by tibit · 2016-01-13 01:35 · Score: 1
  
  That's great to know! Is such depth enough to do meaningful random mutation detection without dealing with a lot of sequencing errors? I don't really know how it works, that's why I ask.
  
  --
  A successful API design takes a mixture of software design and pedagogy.
6. Re:Where did they find the changes? by RDW · 2016-01-18 11:51 · Score: 1
  
  30x is generally considered adequate for variant calling from routine whole genome sequencing using standard Illumina technology, which has a reasonable error rate. But this figure (30 reads covering each base) is just the average of a Poisson distribution - according to Illumina 'the data would be expected to fall to 15x or below about 0.2% of the time', so there will always be some poorly covered bases where we can't confidently call variants.
  The biology can also make things interesting - e.g. mosaicism and copy number variations can mean that there are interesting variants at low allelic ratios (i.e., much lower than the 50% you'd expect from a heterozygous change). Cancer is a major challenge, partly because the tumour may be mixed (effectively diluted) with normal tissue (e.g. from blood) reducing our ability to detect purely somatic changes confined to the cancer, and also because of heterogeneity (many, even most, somatic mutations are not in every cell of the tumour). Because of this, tumours are routinely sequenced at higher depth than normal 'germline' DNA by the UK 100k genome project (and others).
7. Re:Where did they find the changes? by tibit · 2016-01-19 03:07 · Score: 1
  
  Thanks! I've learned something new.
  
  --
  A successful API design takes a mixture of software design and pedagogy.
Re:Hey by Anonymous Coward · 2016-01-12 05:11 · Score: 0

-coke swilling buffoon?
97.9 FM by Anonymous Coward · 2016-01-12 05:21 · Score: 0

97.9 FM
1. Re:97.9 FM by Anonymous Coward · 2016-01-12 07:23 · Score: 0
  
  97X, BAM! The future of rock and roll.
pre-existing condition only in the USA and even th by Joe_Dragon · 2016-01-12 05:27 · Score: 1

pre-existing condition only in the USA and even then all-kids, st jude will cover it up to the age limit after that the ER, JAIL , prison takes of the slack.
I knew prayer would work! by Anonymous Coward · 2016-01-12 06:04 · Score: 0

See this is proof! /sarcasm
Gattaca by Anonymous Coward · 2016-01-12 07:28 · Score: 0

"Consider God's handiwork; who can straighten what He hath made crooked?"
Science can, Bitches!
Not *ALL* People by Roger+W+Moore · 2016-01-12 08:06 · Score: 2

You can say a lot about the US but the one thing we've got going here are legions of researchers looking for ways to make people healthier...
That's not quote correct is it though. You have legions of researchers looking for ways to make RICH people healthier. The conditions which often attract the most research are the ones which affect patients who tend to be more affluent. For life-threatening conditions this is ethically no better than holding a gun to someone's head: pay us lots of money for your treatment or die.
1. Re:Not *ALL* People by Anonymous Coward · 2016-01-12 13:41 · Score: 0
  
  So the rich people pay top dollar to be beta testers, and the rest of us get to enjoy cheap treatments once all the bugs have been worked out? I'm not seeing the downside here.
  I mean, sure, there's a chance I could contract $horrible_condition_x and die of it 5 years before the treatment becomes affordable, but what of it? People have been dying of condition_x for hundreds of thousands of years. If I miss the window by a few years... eh. I still had a better run than the guys living in the paleolithic.
2. Re:Not *ALL* People by ChrisMaple · 2016-01-12 17:10 · Score: 1
  
  Poor people tend to be hurt by things like bullet holes, poor hygiene, poor nutrition, cigarette smoke, and mind-degrading drugs. Preventing those things doesn't require difficult research.
  
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US has at 1,000,000 genomes project or two by peter303 · 2016-01-12 08:33 · Score: 1

Craig Ventor, who supplied the first genome, intends to sequence a million by 2020. Not a shy guy.
http://www.technologyreview.co...
Glut1 by Anonymous Coward · 2016-01-12 08:50 · Score: 0

Glut1 deficiency
If you have a dearth of Glut1, wouldn't that even out?