Mom pushed scientists to check her daughter's DNA; researchers hope step will soon be more commonplace
Article Source: msnbc.com
from:msnbc.comPersonal genome map solves Calif. teen's illness
Seeded on Wed Jun 15, 2011 7:22 PM EDT (msnbc.com)
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very cool and i hope mom didn't sign away the kid's rights to their own DNA / genome
They didn't say but if I had to guess they may have. I can't imagine any insurance company picking up the $70K tab for the sequencing. It's encouraging to hear that the cost may be down to around $1000 in a few years. This eventually could lead to huge breakthroughs in medicine.
The sequencing technology is already here, about 2 years ago they predicted the $1000 genome would come, well, now. The problem is the data analysis, interpretation, and genetic counseling, which will all cost a lot more (and rightly so). This is an awesome step in the right direction, and will absolutely lead to huge breakthroughs with the more understanding we have.
We took a med law class in grad school, where we talked about issues like who would own the genome and could ins. use it to deny coverage (i.e. pre-existing condition). What I think it boils down to, is that like blood type, like gender, like skin color....your DNA is your own, an inborn trait which the law says you cannot discriminate against. Laws around patenting/owning genes at the corporate level are also being examined as we speak. Ultimately I think the decision (and legislation) will show that our genomes are OURS and cannot be owned or used by anyone else without our consent.
Perhaps the serotonin producing medication could benefit asthma sufferers. Maybe asthma is caused by a similar mutation. It sure would be nice not to have to use an inhaler so much.
Unfortunately not. Asthma, (specifically allergic asthma) is caused by changes in lung biology and an inapproriate response by the immune system, not by the brain. The genetic associations of asthma have been studied extensively and it is very very complicated with many genes that are important. Asthma isn't usually caused by all-or-nothing mutations in one or a few genes, but instead by small and subtle changes in the function or expression of many genes and proteins that tip the balance of the immune system towards overreacting to allergens. Thousands of labs have been working for decades to figure out those tiny changes and how to exploit them for treatment. From that research, inhalers came about, even though they are inconvenient.
Even if it is one or two genes are mutated in a human, there are rarely drugs available to correct those mutations. This family just happens to be very lucky that the effect of their mutation could be treated by a drug already in existence.
I wish there were more stories like this one in the news. As I was reading I kept picturing the mom as a never-give-up lady who WILL find out what's wrong with her children. I nominate her for the mom of the year award.
Twelve years ago, my right leg became paralyzed. There has been no clear diagnosis since. This sounds fasinating but, as ususal, it is granted to very few lucky recipients. If they say it'll be available to the masses in five years, you can count on 15 or 20.
gio, you need to do the research yourself. that mom figured it out early on and later, when new symptoms presented she had to fight for the gnome mapping. it wasn't just handed to them. i would love to hear her story, because i'm certain she had to fight like hell to bend the medical establishment to her will.
Go science!
This is what I like to see, science helping people.
In the future I hope we will get better at curing people, and not just treating.
Targeted genomics are the future of health care. Like everything else, the early uses are prohibitively expensive but as time goes on - it will (Hopefully) be the norm. Advances in molecular biology are stunningly useful in difficult diagnostic scenarios like this one, but in cancer we have already discovered that everyone's CANCER IS DIFFERENT, based on their genome. I live for the day when YOUR medication is TARGETED specificially for YOU and vice versa, only THEN can we envision a disease free earth. I prefer to see the glass half full, so I believe it will happen. It will cost money, however. But remember the first hand held calculators? They cost thousands of dollars! Now you can get a case of them for stocking stuffers at the Dollar Store! Personal Computers used to be a province of only the rich a mere ten years ago. Today, most Americans have some type of computer in their homes.
The other bright light on the horizon is the ability of skin cells to be pluripotent. We are already witnessing harvested skin cells which can regrow healthy tissue in multiple organ systems.
The BIGGEST joy on the cardiology horizon is the double ventricular assist which has, in effect, become the best 'mechanical heart', thus freeing the patient from a 'beating' unit. Two VADs implanted in place of a real heart or a single VAD is the new MOTOR which REPLACES a beating heart and thus keeps blood flowing through the body WITHOUT systole/diastole! Incredible development likely to save THOUSANDS with heart DZ!
HOPE SPRINGS ETERNAL....human ingenuity is a remarkable spark of GENIUS!
Bravo to Reeta--the "with-it" Mom who was persistent on behalf of her kids! And also pushing medical frontiers...a true researcher.
how dare that woman advocate for her children! how dare she challenge those very expensive medical degrees! and be right! the nerve!
you go betty. i recently had an experience where i was condescended to by my own practitioner and told i did not have a medical degree. i had exhaustively researched my condition and asked for my medication to be changed to another brand- a brand more commonly used in europe, where pharmaceutical companies don't rule the day. sure enough, after the fight and the med change, i am dramatically improved. p.s. if you have hashimotos thyroid disease, then demand to be switched from synthroid to armour thyroid- you won't believe the difference!
Will we catch up to Star Trek sooner than they did? Or will Obamacare stop research to be replaced by mediocre healthcare? That is the direction its been going.
If we received more real news you would see that everywhere Countries with socialized healthcare are scrambling to pay for it with cuts, raised taxes, and supplemental fees for first in line treatments.
Research takes time and lot, billions, of dollars before actual treatments and cures. The consumer or patient ultimately pays for it, one way or another.
Healthcare is expensive? Try illness or death. Not that long ago my illness would have been categorized as "Consumption" but, in only the past few years the sysmptoms were recognised as Dyostolic heart failure and after much experimental Rx tryouts came to one that helps me. 2yrs. ago they would have called it COPD and been wrong. My test results are now being used to teach Residents of Pulminary desease at the local University hospital.
I'm glad they were able to help the twins and I hope they can keep working.