Forgot your password?
typodupeerror
Medicine Biotech

Industrious Dad Finds the Genetic Culprit To His Daughters Mysterious Disease 204

Posted by samzenpus
from the doing-your-own-research dept.
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."
This discussion has been archived. No new comments can be posted.

Industrious Dad Finds the Genetic Culprit To His Daughters Mysterious Disease

Comments Filter:
  • Origin (Score:4, Funny)

    by Sasayaki (1096761) on Thursday June 27, 2013 @04:15AM (#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 (Score:5, Interesting)

      by SuricouRaven (1897204) on Thursday June 27, 2013 @04:58AM (#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 (Score:5, Funny)

        by crutchy (1949900) on Thursday June 27, 2013 @05:35AM (#44120427)

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

        • Re:Origin (Score:5, Funny)

          by SuricouRaven (1897204) on Thursday June 27, 2013 @07:20AM (#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 (Score:5, Informative)

            by quacking duck (607555) on Thursday June 27, 2013 @08:03AM (#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.

            • by Richy_T (111409)

              Andy Kaufman also.

              • by mattack2 (1165421)

                Upon rereading, I realize you were responding to the "serious advocate of alternative-only medicine and vegan diets for treating/preventing terrible or even terminal illness" part...

                However, at first it seemed like you were giving another example of pancreatic cancer.

                Just to be clear, Kaufman died (or did he?? just kidding) of a form of lung cancer, despite not smoking.

            • he had a type of pancreatic cancer that 95% of victims wish they had, i.e. the treatable, survivable kind of pancreatic cancer

              Fixed that for me... sigh...

            • Why are you unable to respect _his_ decision?

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

              • This has zip to do with respecting his decision. He is quite simply a perfect example that despite being 100% committed to his diet and lifestyle, he *still* got cancer, and afterwards did *not* cure him. This flies in the face of those who claim a certain diet or lifestyle choices is far more effective at protecting you from diseases. Most undoubtedly help improve your chances, but take it to extremes (like refusing any modern medical treatment or drugs) at your own peril... or at your dependents' peril [abc.net.au]).

                T

            • by JThundley (631154)

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

      • Stan Lee, is that you?

        • by Qzukk (229616)

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

      • by Patch86 (1465427)

        Just FYI, I would watch that movie.

      • Re:Origin (Score:4, Funny)

        by LeadSongDog (1120683) on Thursday June 27, 2013 @01:59PM (#44124207)
        Surely that's the premise of "Breaking Dad"?
    • Re:Origin (Score:5, Interesting)

      by JoshuaZ (1134087) on Thursday June 27, 2013 @10:43AM (#44121909) Homepage

      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.

      • by Jmc23 (2353706)
        Perhaps you just don't understand what real Science Fiction is about? It's not just fantasy/fiction in space!
        • by JoshuaZ (1134087)
          Are you trying to argue that there's a specific subgenre of scif that is the only "real Science Fiction"? Because that sounds pretty close to a No True Scotsman situation.
          • by Jmc23 (2353706)
            Science fiction is the use of story telling to explore the impact of technology on humanity regardless of the actual setting. You might be a youngin if you think it's something else.
            • by JoshuaZ (1134087)
              Yeah, so it does seem strongly like you are disputing definitions http://lesswrong.com/lw/np/disputing_definitions/ [lesswrong.com]. Words don't have absolute Platonic meanings. But even if we grant that and that and say that, it doesn't change the initial point. All those Outer Limits episodes I mentioned clearly fall into the cateory of exploring the impact of technology on humanity. The impact in all of them "awful terrible stuff because scientists are arrogant". So I fail to see your point.
          • by dwye (1127395)

            Are you trying to argue that there's a specific subgenre of scif that is the only "real Science Fiction"? Because that sounds pretty close to a No True Scotsman situation.

            Yes. Written Science Fiction. All else is SyFy.

      • The "anti-science, reactionary attitude" must be a part of human nature. Early examples include Icarus, Prometheus, the biblical story of the Tower of Babel, etc. We seems to love cautionary tales, and somehow an achievement or advancement based on science or engineering (sometimes indistinguishable from magic) is at the heart of many of them. They stem from asking, "What if someone could do this, or have this power?" For some reason, thoughts turn negative such that the outcome must be bad, because it can'

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

        The updated version is in Ghostbusters, where the Ghostbusters have been riding around in their salvaged ambulance rounding up ghosts in reponse to calls from worried property owners, and they have these ghosts confined in their "confinement grid" inside the one-time firehouse that they have converted into their place of business/headquarters.

        The "anal reten

      • I think you missed the point of the "Outer Limits".

        See, if you are mean to the aliens, it turns out they were nice but you've blown it and now you are screwed.

        So you should be nice to aliens, except when you are it turns out they were mean and you've blown it and now you are screwed.

        Pretty much whatever answer you choose, you lose (oh, sorry, you "loose").

      • by steveha (103154)

        IMHO, the problem is not so much that the villains are active and the heroes are passive. Nor is the problem that the writers are anti-science reactionaries (most of the times).

        The actual problem is that the writers need to come up with a story, and the story needs to fit the genre.

        For example, in the Marvel universe, teleportation is common enough that SHIELD agents can use it. (Or at least they could in one comic I saw. For all I know, an infinite crisis war could have rebooted the entire universe and

      • by ewhac (5844)

        Let's look at another example. Suppose there were a billionaire who made his money making crappy products and pushing those products on people. Suppose that man decided to then dedicate his life to wiping out a series of specific species completely from their native environments. Sounds like a supervillain, right? Well, that man is Bill Gates, and the species in question are the four species of malaria.

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

        And like most power-mad supe

      • by bogjobber (880402)
        A lot of that can be traced directly to WWI and WW2. Before the World Wars you saw quite a bit more utopian thinking. The thought that science would lead us to a new era of enlightenment, technology was going to solve all problems, cure all of the diseases, end all wars, etc. was quite prevalent at the time.

        Then WWI and WW2 happened. Chemical weapons, eugenics, genocide, nuclear weapons, all of these horrible uses of advanced technology caused a tremendous amount of fear in people. The romantic era
  • Phenotipyc variance (Score:4, Interesting)

    by cripkd (709136) on Thursday June 27, 2013 @04:21AM (#44120213) Homepage
    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.
    • 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.

      • by dwye (1127395)

        Why worry about that? Now that homosexuality is acceptable and they can marry, they will not be accidentally "contaminating" the heterosexual gene pool (Oscar Wilde had 3 children with his wife, England's Edward II had 4 legitimate and at least 1 illegitimate offspring; both were notoriously homosexual according to history), and any genes which lead to likely homosexuals will quickly breed themselves out (or unbreed themselves, or however you describe it). Soon, only the genes which lead to somewhat higher

    • This happens occasionally in animal breeding. Blue eyes in a white-furred cat has a high chance of indicating deafness.

      That being said, however, the definition of "proper" biochemical function is relative, so you can't really say that a developmental gene that produces healthy results is really malfunctioning. A lot of subtle differences between people are caused by changes in how long or how tightly two proteins interact. You could call the European light skin phenotype evidence of a defective gene, becaus

  • industrious dad (Score:5, Insightful)

    by crossmr (957846) on Thursday June 27, 2013 @04:27AM (#44120233) Journal

    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 (Score:4, Interesting)

      by Collin (41088) on Thursday June 27, 2013 @05:12AM (#44120367) Homepage

      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 (Score:5, Informative)

        by TubeSteak (669689) on Thursday June 27, 2013 @09:15AM (#44121189) Journal

        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.

    • Who happens to be a biotech entrepreneur...

      Yeah, good point. But let's not discourage industrious dads, either. When my daughter was three she began exhibiting symptoms of a diagnosed syndrome that were pretty brutal and after the pediatricians wound up at "let's see if she grows out of it" I decided to spend a week at our local medical center's library, for access to the journals I couldn't get online. Working backwards from symptoms to possible metabolic pathways I came up with a no-downside possible

  • Father of the Year (Score:4, Insightful)

    by Anonymous Coward on Thursday June 27, 2013 @04:43AM (#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.
  • The blog of Dr. Matt Might (U of U) documents a similar case. http://matt.might.net/articles/my-sons-killer/ [might.net]
  • Seriously? (Score:3, Insightful)

    by Anonymous Coward on Thursday June 27, 2013 @05:22AM (#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.

    • by cripkd (709136)
      Someone just thinks "a decade" means "a lot of time".
    • Re:Seriously? (Score:4, Insightful)

      by mister2au (1707664) on Thursday June 27, 2013 @05:58AM (#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 !

    • by MiniMike (234881)

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

    • by idontgno (624372)

      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!

    • 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."
    • by nbauman (624611)

      The original article said "nearly a decade."

      This is journalism. You want fact-checking. That's a different department.*

      _____
      *And they all got laid off.

  • Old Links (Score:4, Informative)

    by necro81 (917438) on Thursday June 27, 2013 @07:15AM (#44120657) Journal
    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.
  • by slashmydots (2189826) on Thursday June 27, 2013 @09:54AM (#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? (Score:5, Informative)

      by the gnat (153162) on Thursday June 27, 2013 @10:20AM (#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!)

    • Re:wait, what? (Score:4, Interesting)

      by drunken_boxer777 (985820) on Thursday June 27, 2013 @12:12PM (#44122819)

      This has been possible for decades. Short and simplified answer to "how":

      1. Put the gene of interest (e.g., Bea's variant) into mouse embryonic stem cells (mESCs) in place of the "normal" (wild type) allele.*
      2. Make a female mouse super-ovulate and harvest eggs.
      3. Transfer nucleus of engineered mESCs into denucleated eggs.
      4. Allow re-nucleated eggs to undergo initial cleavage events in vitro. (These are effectively clones, but with one genetic change.)
      5. Take best developing clones and implant into pseudo-pregnant female, ala IVF.
      6. Profit!

      *In the case of a knock-in (adding or replacing a gene), you need to use vectors that will insert in place of an existing "normal" gene, "knocking in" a mutant or variant. In the case of a knock out, you can either make a copy that doesn't transcribe into mRNA or just use the flanking DNA sequences without the gene you want to remove.

  • by azav (469988) on Thursday June 27, 2013 @10:16AM (#44121653) Homepage Journal

    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.
       

  • by nbauman (624611) on Thursday June 27, 2013 @11:48AM (#44122535) Homepage Journal

    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 [wikipedia.org] http://www.progeriaresearch.org/ [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."

  • It was the milkman.
  • 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 sho

    • by iggymanz (596061)

      not quite applicable sentiment here, as the man wanted more life for someone else (admittedly with half his DNA).

      Maybe more like Leon, who had current photos of friends in his pocket and became enraged when Decker shot one of them. He had some care for others.

      So get the rind of that watermelon back, and smack it a few times "wakey wakey....time to die!" Or shoot it with shotgun, "Let me tell you about my mother!"

Nothing is more admirable than the fortitude with which millionaires tolerate the disadvantages of their wealth. -- Nero Wolfe

Working...