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Hunting Disease Origins By Whole-Genome Sequencing
ChocSnorfler writes "James Lupski, a physician-scientist who suffers from a neurological disorder called Charcot-Marie-Tooth, has been searching for the genetic cause of his disease for more than 25 years. Late last year, he finally found it — by sequencing his entire genome. While a number of human genome sequences have been published to date, Lupski's research is the first to show how whole-genome sequencing can be used to identify the genetic cause of an individual's disease."
Maybe not yet, but it sure is hard to begin fixing something before you know why it's broken.
This is my sig. There are many like it but this one is mine.
Your genome has a lot of differences from the reference genome. They narrowed down the differences based on a lot of previous work discovering genes linked to the disorder.
Only then were they able to zero in on precisely what gene in his specific genome caused the problem, and confirm it by testing other family members.
They ARE contaminating the gene pool, and whether you like it or not, they should not be allowed to reproduce. Here's my idea: You want society's help? Get sterilized, and then we'll help you. We won't sterilize you forcefully, but if you want our help, that's our price.
In the past, weak people died, strong people lived, and eventually that lead us to where we are. Instinct brought us here, and It wasn't the instinct of the weak and diseased.
We, as a society, can help and fix the diseased, but doing that messes with evolution, effectively shutting it down. In today's society, the weakest, less intelligent and poorly educated reproduce more than the rest of us. Yes, there's a very funny movie about it that gets quoted just a little bit too often.
So, it's our duty to make up for that. We either stop treating them, stop giving them social help, etc. , or we help them fully, but make sure they don't reproduce.
It's either that, or face our own destruction a few centuries from now, when most of us will be a hoard of diseased and retarded individuals.
WTF am I doing replying to an AC at 5 A.M on a Friday night?
What if the gene pool that YOU choose to eliminate might save mankind one day?
http://en.wikipedia.org/wiki/Sickle-cell_disease
>Since the gene is incompletely recessive, carriers can produce a few sickled red blood cells, not enough to cause symptoms, but enough to give resistance to malaria.
For the bathrooms, we do discriminate based on a specific genetic difference right now.
I have two distinctly different mental illnesses, a neurological condition that affects my brain, and a circadian rhythm disorder that more or less makes it impossible for me to hold any kind of nine-to-five job.
I have Bipolar-Type Schizoaffective Disorder, which is just like being Schizophrenic and Manic Depressive at the same time. That was diagnosed in 1985. I also have Obsessive-Compulsive Personality Disorder. That's quite a different thing than the more well-known Obsessive Compulsive Disorder (OCPD vs OCD). I was told of the diagnosis in 1994 but I have reason to believe the diagnosis was made long before, but my therapist chose to wait many years to give me the bad news.
The neurological condition is Attention Deficit Hyperactivity Disorder. I got that diagnosis in 2008. ADHD isn't taken very seriously by a lot of people, with some believing that it's not a real illness. It's no joking matter: I got the diagnosis in a psychiatric hospital where I committed myself rather than go off the Golden Gate Bridge as a result of my profound inability to focus on my work. I had been begging all manner of medical and mental health practitioners for help with it for ten years, but none of them had the first clue as to how to help me. It was only the shrink in 2008 who was able to make a real difference.
My circadian rhythm disorder is Delayed Sleep Phase Syndrome. It is the main reason I am a software engineer - my degree is in Physics, and not Computer Science. When I noticed that many of my programmer friends worked at night, I figured that being a coder would be the only way I would ever be able to hold a real job. All of my life I have slept during the day and stayed up all night. My mother said I was this way even when I was a newborn in the hospital.
My reason for wanting my genome sequenced is not at all to help myself, but to help others with my conditions. Besides understanding my various illnesses, I also want the medical community to figure out why I have done so well despite what would normally be a profound disability:
It is very, very rare for someone with Schizoaffective Disorder to live independently, let alone hold any kind of real job. I have a degree in Physics and have been a coder for twenty-two years. But most who share my diagnosis have to live off the disability check, be cared for by their families, spend their lives in institutions, or survive somehow on the streets, tormented by despair and madness.
There was a time when I was so hopelessly in the grip of my delusions that when God Almighty Himself sent me visions in the sky, I would photograph them. But when the pictures came back from the developer without my visions in them, I figured it was due to my inexperience as a photographer and not because those hallucinations were the products of my own demented imagination.
My hope is that by having my genome sequenced, I might not only ease the sufferring of others, but prevent a lot of otherwise needless suicides.
I am absolutely serious: mdcrawford at gmail dot com
Request your free CD of my piano music.
Also known as "Cheney's disease"
The entirety of your argument is based on a logical fallacy that there is some "obligation" that humans have towards evolution, which you keep repeating on and on. It carries with itself the idea that we are entirely capable of understanding the complexity of the ecosystem and we should actively intervene so that we don't "break" it in any way.
"Diversity is no good if there's no natural selection" - this argument, while it sounds nice and logically founded, is really not much more than a nicely-presented opinion. How do you know that diversity is "no good" if there's no natural selection? For what we know, humans are the first species that has allowed themselves to advance to a level where natural selection does not happen by predators. Which brings me to the point that "there's no natural selection" is an untrue statement - we still suffer from diseases and natural disasters. What's really naive in your argument however, is the fact that we simply don't know where the evolution will lead us as a species. You talk in a way that would suggest you can predict the future, and the way we're acting is "no good" for us and the future generations.
The irony here is that this inner need to care after the weaker and the sick, the desire to form relationships not based on a materialistic purpose and many other characteristics have allowed Homo sapiens to reach this civilizational and technological level - a level where someone, using a device that showcases the genius of the species, communicates through another medium that showcases the genius of the species, that this approach is wrong and "no good". What you're saying is fundamentally no different than the arguments touted by eugenicists in the twentieth century. It feels comfortable and good telling other people that they should be sterilized, in a way projecting your sense of superiority on them. That is, until it turns out that someone decides you should be sterilized as well.
Stop trying to decide other's fate based on your false sense of understanding the complexity of nature.
I can't believe this got modded insightful. Even without the racist insinuations, it's just plain wrong.
First, evolution does not have a purpose, and we surely don't have a "duty of doing our part in evolution". Evolution is just a natural process. Saying we have a duty to evolution makes about as much sense as saying we should stop building airplanes because we're neglecting our duty to gravity.
Second, the idea that we need to "weed out" the undesired traits in the human species is wrong because evolution does not work that way. Major changes in the genome generally happen within small, isolated populations. With such a huge population as humans on Earth is, evolution will be an extremely slow process. The gene pool will be mixed and mingled and these undesired traits will come and go.
Third, it's not clear what would represent "good" and "bad" traits (let alone genes) in humans. For example, people suffering from sickle-cell disease are more resistant to malaria. It would also be extremly difficult and costly to determine which genes are good and which are bad. Evolution, on the other hand, doesn't care. It only cares about if the genes are good enough to let the individual survive and reproduce. For this reason, eugenics is generally considered a pseudoscience.
Fourth, and I really shouldn't have to mention this, no one in their sane mind wants a government that gets to decide who can reproduce and who can't. If you don't see why this is a bad idea, then maybe YOU should refrain from breeding because we surely don't want anyone who lacks imagination to reproduce, right?