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