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Industrious Dad Finds the Genetic Culprit To His Daughters Mysterious Disease

First time accepted submitter bmahersciwriter writes "Hugh Rienhoff has searched for more than a decade for the cause of a mysterious constellation of clinical features in his daugther Bea: skinny legs, curled fingers and always the specter that she might have a high risk of cardiovascular complications. He even bought second hand lab equipment to prepare some of her genes for sequencing in his basement. Now, he has an answer."

16 of 204 comments (clear)

  1. 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!
  2. 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 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.
  3. 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.

  4. 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.

  5. 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!

  6. 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.

  7. 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.

  8. 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!)

  9. 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.

  10. 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.

  11. 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.