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February 6, 2014 12:02 am GMT
When Max Good was born, it was clear that something was off. At first, he was a colicky baby. But then he wouldn’t make eye contact, revealing that he was almost 100 percent blind at birth. Occasionally, he would have seizures. Then feeding became so impossible and difficult that his parents, Paul and Janis, eventually had to insert a tube up his nose. “For his entire life, we’ve been trying to figure out what’s up,” said his father Paul Good. “He’s never been mistaken for a normal, healthy child and we’ve run every test on the under the sun.” Initially, doctors gave Max a cerebral palsy diagnosis. But cerebral palsy captures a set of symptoms or movement disorders that arise from damage to the motor control centers of the brain. It doesn’t describe an exact cause. It’s like how the word “cancer” actually describes a multitude of ways in which normal cell death and division break down for different kinds of cells. “I’m going to live for decades with this kid. He’s my son. I have to deal with whatever fate throws at us,” said Paul. “But I don’t like the idea of not knowing what this is.” So after running tests for years — MRIs, EKGs, metabolic testing, you name it — Paul Good decided to explore Max’s DNA on the recommendation of his brother Otavio. With sequencing costs falling faster than Moore’s Law would suggest, it’s becoming possible for people to get their entire genomes sequenced for a few thousand dollars. In fact, Illumina, the leading company the in the space, announced a machine a few weeks ago that could bring full sequencing costs down to the symbolic milestone of $1,000. It’s important to stress that full sequencing is different from the tests that well-publicized companies like 23andMe offer, which are SNP (single nucleotide polymorphism) tests that examine only small parts of person’s genome. The dirt-cheap costs mean that it’s possible for computer scientists and hackers to go and literally sort through gigabytes and gigabytes of a person’s raw genomic data. This code is made up of strings of As, Ts, Cs and Gs, the four nucleobases found within DNA. It opens the next challenge: how do you leverage computer science, statistics and mathematics to make sense of this new flood of data? “That’s the secret sauce. How do you take all of this stuff and narrow it
Original Link: http://feedproxy.google.com/~r/Techcrunch/~3/3Eb4X-w99SY/
Bio-Hackers Pore Through A Childs DNA For The Source of A Mysterious Disease
When Max Good was born, it was clear that something was off. At first, he was a colicky baby. But then he wouldn’t make eye contact, revealing that he was almost 100 percent blind at birth. Occasionally, he would have seizures. Then feeding became so impossible and difficult that his parents, Paul and Janis, eventually had to insert a tube up his nose. “For his entire life, we’ve been trying to figure out what’s up,” said his father Paul Good. “He’s never been mistaken for a normal, healthy child and we’ve run every test on the under the sun.” Initially, doctors gave Max a cerebral palsy diagnosis. But cerebral palsy captures a set of symptoms or movement disorders that arise from damage to the motor control centers of the brain. It doesn’t describe an exact cause. It’s like how the word “cancer” actually describes a multitude of ways in which normal cell death and division break down for different kinds of cells. “I’m going to live for decades with this kid. He’s my son. I have to deal with whatever fate throws at us,” said Paul. “But I don’t like the idea of not knowing what this is.” So after running tests for years — MRIs, EKGs, metabolic testing, you name it — Paul Good decided to explore Max’s DNA on the recommendation of his brother Otavio. With sequencing costs falling faster than Moore’s Law would suggest, it’s becoming possible for people to get their entire genomes sequenced for a few thousand dollars. In fact, Illumina, the leading company the in the space, announced a machine a few weeks ago that could bring full sequencing costs down to the symbolic milestone of $1,000. It’s important to stress that full sequencing is different from the tests that well-publicized companies like 23andMe offer, which are SNP (single nucleotide polymorphism) tests that examine only small parts of person’s genome. The dirt-cheap costs mean that it’s possible for computer scientists and hackers to go and literally sort through gigabytes and gigabytes of a person’s raw genomic data. This code is made up of strings of As, Ts, Cs and Gs, the four nucleobases found within DNA. It opens the next challenge: how do you leverage computer science, statistics and mathematics to make sense of this new flood of data? “That’s the secret sauce. How do you take all of this stuff and narrow itOriginal Link: http://feedproxy.google.com/~r/Techcrunch/~3/3Eb4X-w99SY/
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