For some diseases, ‘genetic destiny’ can be averted: study

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Genetic Diseases

Scientists said Monday they had found a handful of healthy people each carrying a genetic mutation that should have condemned them to crippling disease or death.

The discovery, made by scanning the genomes of nearly 600,000 normal people, opens up a new approach to finding treatments for cystic fibrosis and dozens of other rare and incurable conditions linked to specific variations in a single gene.

Up to now, medical science assumed that anyone unlucky enough to have one of these so-called Mendelian mutations — named after the 19th-century founder of modern genetics — was doomed.

“Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy,” said Eric Schadt, a professor at the Icahn School of Medicine in New York City, and a main architect of the study.

“Millions of years of evolution have produced far more protective mechanisms than we currently understand,” he said in a statement.

Together with colleagues Stephen Friend and Rong Chen, Schadt led a team of 30 researchers in sifting through data on nearly 900 genes from each person’s genome, looking for the telltale mutations leading to any of hundreds of distinct genetic diseases.

A rigorous process of winnowing left them with 13 individuals who had gene variants that would normally result in one of eight debilitating conditions.

Besides cystic fibrosis, which inflicts severe damage on the lungs and the digestive system, these included Pfeiffer syndrome, characterised by a severe deformation of skull bones, and Smith-Lemli-Opitz syndrome, a disorder linked to multiple malformations and intellectual disability.

The results were published in Nature Biotechnology.

“These rare individuals must possess some combination of factors — genetic or environmental — that protects them from an otherwise crippling disease,” Daniel MacArthur, a genomics researcher at Massachusetts General Hospital who was not involved in the study, commented in the same journal.

The next step would be to locate enough cases of people who have survived to adulthood despite these genetic flaws to identify — and eventually duplicate — these protective mechanisms.

– ‘Genetic superheros’-

Until recently, it would have been technically unfeasible to scan hundreds of thousands of human genomes in this manner.

“This study demonstrates the power of using big data to ask new biological questions,” said Anne Wojcicki, co-founder and CEO of personal genomics company 23andMe, which participated in the project by providing access to data on more than 400,000 of its customers.

In a frustrating twist, however, the researchers were unable to follow up with any of the 13 people found because of limitations in the consent policies they had signed.

Experts commenting on the study said this was a regretable shortcoming that limited the value of the findings and would need to be changed in future research.

“Some of the patients may have had disease that went unreported,” said Scott Hebbring, a scientist at the Marshfield Clinic Research Foundation and a professor at the University of Wisconsin.

Ada Hamosh, clinical director of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University, said mutation for cystic fibrosis were so unlikely in healthy people that the results may have stemmed from a “technical error.”

The two cases of Pfeiffer syndrome, he added, could have been so mild as to not be detected as such.

But commentators agreed that the idea of scanning large populations to find individuals who are healthy despite carrying gene variants known to cause disease holds great promise.

“Achieving this goal will require incredibly large sample sizes,” measured in millions not thousands, said MacArthur.

It will also need what he called “genetic superheros” to step up and dotate their genomic and clinical data so researchers can pick through them.

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  • Why does Raila keep asking for this or that assistance from the West? And why is it that everytime he speaks, its only about elections?

    • Pratt

      Its because the pretender in him has to feign genuine concern for the country. Its also a foresight, albiet elaborate plan, in case of obvious defeat. He would demand repeat of elections and claim to have “fought” so hard to have free and fair elections! In nutshell, its a smokescreen to hide his devious intentions. Obviously, with leeway for fake opinion polls withdrawn by legislation, other ways of fooling the masses have to be found and quickly. Am sure you saw how hard he fought against opinion poll regulation bill. But unfortunately, he no longer commands majority in parliament. He is now a toothless bulldog. However, the fellow never changes despite pretentious claims of being a reformer. Every other time, he tries to push through his ever selfish agenda. Only to be confronted by embarrassing defeat. Remember he lost the election date, the East African legislative nomination and now the opinion polls bill. The chain of losses is pretty long. Nevertheless, I dare say the guy is not a leader but a fake. He has spent 5 long long years pretending and fighting to be number two in the government. Needless to say, the law is very clear on that. He is even lower than the speaker of the national assembly. But am sure you do remember the ever sickening “Kibaki pande hii na Raila pande hii, hakuna mtu mwingine!” Severally, Raila has rushed to be on the right side of the president, just to be seen as the right hand man, protocol not withstanding. President and Vice president just resolved to ignore those childish antics. After all, they dont change anything at all. Am sure you have seen Raila running to catch up with the president and even try to position himself on the right hand side. Raila embarrasses himself but his tribal spin doctors in the press try to justify that.. Thats done by cooking up plausible excuses. A real leader cant spent solid 5 years trying to fight for space when its not even necessary. Only a conman can spent lifetime trying to depict the opposite. Unless, given his low numbers, the guy screams some one else “tosha,” expect some ugly drama once he is overwhelmed on the polling day.

  • sisemi

    Raila should just stop begging, it is below his dignity and is not necessary!!!

  • Pratt is a bratt. does he live on the internet!! why is he ever ready to oppose whatever RO says!! When you hate someone there is no time you will ever speak positively about him even when he is right. I did not want to commend on what RO says but on this Pratt of a man. He is a negative person who is ready to oppose his enemies even though they are right.

    • Pratt

      Wow! My dear you seem to have misplaced understanding of issues. This is because when your RO or whatever, called for mass murder in the name of mass action, you were there. I guess as far as you are concerned, he did the right thing! When he wallowed neck-deep in the blood of innocent Kenyans to become a do-nothing pm, I guess, that to you was right too. And when he falsely claimed ownership of the new constitution you were still in deep sleep. Am sure you dont know when he was purportedly admitted at Nairobi hospital he wasnt sick at all. It was just a smart way to keep his bad mouth from “yes campaign team!” By the way, how would such an important person be injured by car door thats normally opened for him? And with slowness of which our VIPs come out of their vehicles, is there any chance for one to be injured? Let me answer you about “hating your hope,” I actually dont. However, I cant stand the lies, malice and poisonous propaganda that surrounds the man. It can only be associated with mental patients! Furthermore, do you know any achievements that can be attached to your “hope?” Do you know any names that he has called people and never turned out to be his reals? Finally, tell me one thing thats right from Raila and I have oposed. May be we can then pick it from there!

    • Pratt

      When I put forward the below response, I was actually headed to a meeting. I therefore, didnt reply as I should. First, tell us what facts are there to suggest I “hate” your “hope.” Also do say which facts I have posted that are not correct. I hardly dwell on generalities, only hard facts and facts alone! I have not said anything about Raila that cant be proved. However, it seems your fixation with him cant allow you to face the truth. RO as you call him, is a character built on quicksand. There is no single thing that he claims to have done or helped to do that can stand any shred of scrutiny. You dont even need to do any serious research! You need only to check records and then you are left wondering whether the fellow is not something close to a conman. Just check the record about his jailing and subsequent detention. Then move to multiparty records down to the new constitution. And dont ever forget these are his main pillars in his claim to leadership! They all clearly suggest that either he twisted facts to build his credentials, or he blatantly lied for very same reasons. And true leaders for liberation of the people DONT climb on rooftops to declare their purported good deeds! Only usurpers and mental patients can do that pal. I suggest you check your facts properly before crying “hate” just to insulate your idol. If my negativity is hard facts that cant be disputed, but only make your dislike for truth resort to insults, then I have no idea what negatives are pal! And how come you are bothered my presence on these posts? For your information, I dont walk in cyber cafes for that, I do it from the comfort of my house! I dont cry about so called historical injustices when I actually mean my jealousy is overwhelming me!!!!

    • prophet6

      Pritt is clearly a man who is driven by a critical look at the man Raila. His views are spot on and factual. I share the same views and belief that the man RAO is a con and a master at it. He is trying to create an impression that the next election will not be fair because of lack of funds. In 2007, he created the perception that there will be rigging of votes if he fails to win. Most of is supporters rushed to the streets causing havoc because they already believed that the elections were not fair.

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