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

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.

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

[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

[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 !

Re: Fluoride?

[jd2112]

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