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Industrious Dad Finds the Genetic Culprit To His Daughters Mysterious Disease

Posted by samzenpus on 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."

44 of 204 comments (clear)

  1. Origin by Sasayaki · · Score: 3, Funny

    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
    1. Re:Origin by SuricouRaven · · Score: 5, Interesting

      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.

    2. Re:Origin by crutchy · · Score: 5, Funny

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

    3. Re:Origin by SuricouRaven · · Score: 5, Funny

      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.

    4. Re:Origin by quacking+duck · · Score: 4, Informative

      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.

    5. Re:Origin by JoshuaZ · · Score: 5, Interesting

      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.

    6. Re:Origin by drunken_boxer777 · · Score: 2

      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't always be good. Right?

      As for the the heroes relying more on strength than intellect, that is interesting. Perhaps nerds like them because they think, "I am already smart, so if I were strong as well I'd be a real hero." Or maybe, they think about how bigger stronger bullies use strength, against which their intellect usually does little good, and project that in a role-reversing fashion.

      Anyway, you raise interesting points about archetypes in literature spanning millenia.

    7. Re:Origin by LeadSongDog · · Score: 3, Funny

      Surely that's the premise of "Breaking Dad"?

      --
      Oh, I'm sorry sir, I thought you were referring to me, Mr. Wensleydale.
    8. Re:Origin by dwye · · Score: 2

      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.

    9. Re:Origin by steveha · · Score: 2

      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 retconned this. But never mind.) Teleportation is a seriously world-changing invention, and for it to be even remotely possible, related tech needs to exist. Yet the world looks pretty much like our world.

      For another example, Tony Stark has invented "repulsors", which seem to directly turn electrical energy to momentum. Jet fighters need to carry lots of fuel, but Iron Man can fly rings around them carrying nothing but a micro fusion reactor. Again, this is a world-changing invention: maybe it needs the smartest man in the world to invent this, but once he has done it, others will reverse-engineer it and then the world changes.

      I give you two reasons why world-changing inventions don't change the world in comics: 0) Figuring out the impacts of this technology could tie up a writer full-time for weeks; a science fiction writer might do this, but the comics writer wants to spend time writing comics stories. 1) If the writer did spend the time, he/she would then be telling science fiction stories about the impact of technology on society, not about the comic characters.

      A related problem is the desire to never change the formula too much. For example, the iconic villains always come back (e.g. Batman never seems to be done with the Joker). So, like an episode of Star Trek: The Next Generation, the storyline often ends up with everything returned to the status quo ante. Inventions not changing the world is part of this. We identify with Spider-Man partly because he lives in recognizably the same world as we do... he's sort of a "blue-collar" hero, no mansion with hidden cave for him. If he lived in a futuristic society with teleporters and personal flying cars, he might be largely the same character but I don't know if I would have thought of him as "blue-collar".

      One of the things I really liked about the Watchmen story: at the end, we see that Ozymandias has actually invented some world-changing stuff (really clean electric power, really efficient electric cars, etc.) and the world actually changed. Watchmen was able to do this because it was conceived as a limited series, so they didn't need to be able to tell stories in the changed world after the ending.

      TL;DR It's hard work to figure out how society would change, and stories about how society has changed don't fit the desired template for comics.

      P.S. As for actual science fiction stories, sure there are some about how technology screws the world up, but there are plenty of other stories that don't take that approach.

      --
      lf(1): it's like ls(1) but sorts filenames by extension, tersely
    10. Re:Origin by ewhac · · Score: 2

      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 super-villains, I'm quite certain Gates hasn't bothered to consider the possible long-term downsides to putting his fumbling thumb on the scale of evolution and genociding several species of pathogen.

      --
      Editor, A1-AAA AmeriCaptions
    11. Re:Origin by bogjobber · · Score: 2

      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 (think Mary Shelley's Frankenstein) started the mad scientist trope, but it really exploded in the mid-20th century. And since that's when the Golden Age of Comics and Golden Age of Science Fiction happened to occur, that's why so many comic book villains and sci-fi stories deal with that concept. People were just reacting to their environment.

  2. Phenotipyc variance by cripkd · · Score: 3, Interesting

    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.
  3. industrious dad by crossmr · · Score: 4, Insightful

    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.

    1. Re:industrious dad by Collin · · Score: 4, Interesting

      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.

    2. Re:industrious dad by TubeSteak · · Score: 5, Informative

      In 2008, Jay Flatley, chief executive of Illumina, 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.

      --
      [Fuck Beta]
      o0t!
  4. The power of love by Taco+Cowboy · · Score: 5, Insightful

    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 !
    1. Re:The power of love by Dr+Max · · Score: 4, Interesting

      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.

      --
      Rocket Surgeon.
    2. Re:The power of love by Xeno+man · · Score: 4, Insightful

      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.

    3. Re:The power of love by prelelat · · Score: 3, Insightful

      I don't know if it's intentional but you are trivializing what he did because he used money to get there. Yes there are plenty of parents out there that don't have the resources(which to me seemed more like connections because of his training than money) to get this looked at.

      You don't have to be poor to care and that's how you make it sound. He did work out of his basement yes he most likely spent a some cash on it. That doesn't trivialize the process. People like him are why we have improvements in diseases like ALD. If this genetic mutation starts showing up in others now that they know about it then we are one step ahead of the game on finding a cure.

    4. Re:The power of love by Samantha+Wright · · Score: 3, Informative

      By far the most expensive part of the process was donated by Illumina, a company which makes gene sequencing equipment and accepted his family as a test group. That probably would have cost hundreds of thousands of dollars. (The summary's misleading; he only prepared the samples in his basement. The sequencing equipment was bleeding-edge.)

      As Xeno man said, the real treasure this fellow had was his knowledge of molecular biology and biochemistry, although as a player in the biotech industry his connections weren't insignificant.

      --
      Bio questions? Ask me to start a Q&A journal. Computer analogies available for most topics!
    5. Re:The power of love by tibit · · Score: 4, Insightful

      The sequencing was done, according to the article, by a friendly company, not in his basement, and it was done for free. I don't think money played a huge role. His connections and education did, for sure.

      --
      A successful API design takes a mixture of software design and pedagogy.
    6. Re:The power of love by the+biologist · · Score: 2

      Look up Tale-Nucleases.

      They're still in the research phases, but they're the sort of technology needed to do targeted alterations as you suggest. The difficulty in the human case would be to get the protein into every single cell... but you might be able to get away with altering a batch of stem cells, which would then added back into the heart/etc to ameliorate specific clinical pathologies.

    7. Re:The power of love by HiChris! · · Score: 2

      Alt-225 gives you this "ß" and generally works for beta it doubles for the german es-tset , there isn't an alt-code for the typical lower case beta.

  5. Father of the Year by Anonymous Coward · · Score: 4, Insightful

    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.

  6. Similar genetic search by billfen · · Score: 2

    The blog of Dr. Matt Might (U of U) documents a similar case. http://matt.might.net/articles/my-sons-killer/

  7. Seriously? by Anonymous Coward · · Score: 3, Insightful

    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.

    1. Re:Seriously? by mister2au · · Score: 3, Insightful

      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 !

    2. Re:Seriously? by cripkd · · Score: 2

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

      --
      Curiously yours, crip.
    3. Re:Seriously? by HungryMonkey · · Score: 2

      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."

  8. Re:Really Interesting by cripkd · · Score: 2

    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.
  9. Re:liberalism is these disease by ciderbrew · · Score: 2

    So you think genetic conditions are caused by diet?

  10. Old Links by necro81 · · Score: 3, Informative

    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.

  11. Re: Really Interesting by somersault · · Score: 2

    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
  12. Re:liberalism is these disease by Anonymous Coward · · Score: 2, Funny

    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?

  13. wait, what? by slashmydots · · Score: 2

    "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?

    1. Re:wait, what? by the+gnat · · Score: 4, Informative

      "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, 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!)

    2. Re:wait, what? by drunken_boxer777 · · Score: 3, Interesting

      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.

  14. Please proofread before posting. by azav · · Score: 2

    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...
  15. Re:Fluoride? by Anonymous Coward · · Score: 5, Funny

    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.

  16. Re: Fluoride? by jd2112 · · Score: 4, Insightful

    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.
  17. Re:liberalism is these disease by rossdee · · Score: 2

    "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

  18. Hutchinson–Gilford progeria by nbauman · · Score: 2

    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."

  19. Fools, all of you! by Latent+Heat · · Score: 2
    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 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?)