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."

Comments

Origin

[Sasayaki]

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

[SuricouRaven]

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

[crutchy]

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

Re:Origin

[SuricouRaven]

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

[quacking duck]

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.

Re:Origin

[JoshuaZ]

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.

Re:Origin

[LeadSongDog]

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

Phenotipyc variance

[cripkd]

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.

industrious dad

[crossmr]

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

[Collin]

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

[TubeSteak]

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.

The power of love

[Taco Cowboy]

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

Re:The power of love

[Dr Max]

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.

Re:The power of love

[Xeno man]

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.

Re:The power of love

[prelelat]

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.

Re:The power of love

[Samantha Wright]

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.

Re:The power of love

[tibit]

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.

Father of the Year

[Anonymous Coward]

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.

Seriously?

[Anonymous Coward]

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.

Re:Seriously?

[mister2au]

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 !

Old Links

[necro81]

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.

Re:wait, what?

[the gnat]

"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!)

Re:Fluoride?

[Anonymous Coward]

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.

Re: Fluoride?

[jd2112]

searching for vaccines and autism turns up a lot of hits too. Despite being debunked multiple times.

Re:wait, what?

[drunken_boxer777]

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.