Daily Archives: May 3, 2014

Jesus or Genome Fire and Wood LIVE w/Violin and Cello
Preparing for my CD release show May 3rd 3014 at the shred shed. Amazing string musicians backing me up!

By: M.Cundick Music and Activism

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Jesus or Genome Fire and Wood LIVE w/Violin and Cello - Video

GENESIS Precision Genome Editing with CRISPR and rAAV
Horizon Discovery offers both nuclease based gene editing using CRISPR technology and homologous recombination based editing using rAAV. Horizon Discovery #39;s ...

By: GENNews

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GENESIS Precision Genome Editing with CRISPR and rAAV - Video

Hana Clone GENOME First Look with 2 Lipo battery bags sold by Atozvaporworld
First look, and use of the GENOME sold by Atozvaporworld.com which is a clone of the Hana mod box in Black with the vendors logo on it that has two 500 mah Lipo battery bags on connectors...

By: Smokie

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Hana Clone GENOME First Look with 2 Lipo battery bags sold by Atozvaporworld - Video

Genome Grand Rounds 4.17.2014
The Miller School proudly welcomed Vence L. Bonham, J.D., Senior Advisor to the National Human Genome Research Institute (NHGRI) Director on Genomics and Hea...

By: UHealthTV

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Genome Grand Rounds 4.17.2014 - Video

Whole genome sequencing has officially entered the medical mainstream and kicked off an era of truly personalized medicine.

California-based Illumina is now selling high-throughput sequencing equipment that will deliver a patient's entire genetic blueprint for about $1,000. That's down from about $2.7 billion for the first human genome just 11 years ago.

Whether the technology can reduce health care costs depends on how we choose to use the information and whether the targeted treatments promised are affordable.

Brad Popovich, chief scientific officer of Genome British Columbia, foresees a time in the not-too-distant future when all babies will have their genome sequenced at birth, much as we do now with blood tests for a handful of common and rare diseases. As many as three million Canadians could develop a rare disease during their lifetime and many of those need never become ill.

"There are targeted therapies or lifestyle changes you can make to modify that risk," he said.

However, people given information about their genetic risk for disease tend not to change their lifestyle, diet or even stop smoking, according to several recent studies of patient behaviour.

That means the value of whole genome sequencing, in terms of individual behaviour, is conditional on developing techniques to get people to change, wrote the authors of an article published in the journal PLOS Biology.

Whole genome sequencing could replace many of the laboratory tests that the medical community has relied on to diagnose illness for decades, according to Popovich.

"Rather than running a dozen tests to track down exactly what illness they are dealing with, doctors may soon be able to replace nearly all of them with a single test for everything," he said. "Right now the system is spending money, money, money trying to figure out what's going on."

Sometimes there are several drugs that will work against an illness, but one may be more effective against a particular genetic variant of the illness. Similarly, one particular drug may work better in patients with a particular genetic profile. Genomics helps remove the guesswork, according to Larry Lynd, a pharmaceutical sciences professor at the University of B.C. and a member of the B.C. Ministry of Health expensive drug and rare diseases advisory committee.

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A costly way to save

In the course of his early research, the chief scientific officer of Genome BC routinely drew his own blood to compare with the DNA of people who were known to have disorders such as cystic fibrosis or spinal cerebral ataxia.

"I would draw blood weekly ... and provide that to extract DNA," said Brad Popovich. "The reason I was very comfortable doing that is that knew I didn't have any one of those diseases. So, I was a good control."

But over all those years, dating back to the late 1980s, Popovich never allowed his DNA to be tested for the APOE e4 gene. Having a single copy of the APOE e4 gene increases the carrier's risk of late-onset Alzheimer's disease. Having two copies - the e4e4 configuration - dramatically increases the risk yet again.

"I basically said to the lab: 'I'm not a control for that test, I don't want you ever to use me as a control for that test, because I don't want to know and I don't want you to know if I have that,'" he recalled.

"Both my maternal grandmother and my mom died of dementia and so there was a significant risk there," said Popovich.

But when Popovich the son and grandson was faced with the opportunity to have his whole genome sequenced, Popovich the scientist had to come to terms with what the test would certainly reveal.

"When I did my whole genome, the biggest question was Alzheimer's and is this going to show that I have a significantly increased risk," he said. "Then, if so, what would I do with that information? We lived through what happened with my mom and I lived through it with my grandmother and if there is a higher probability of that happening to me ... why not know that?" Popovich's decision, made with his wife Nicola, was made simpler because the two have no children. The presence of hereditary disease in his genome has no downstream impact, but a positive result for an Alzheimer's-associated gene would have significantly changed both their lives.

"I'm at the point in my life where I just decided that if I had that information I actually could work with (it) in a constructive way, as constructive a way as not knowing," he said. "I wanted to do this to become a consumer, to find out how you and I are going to access this information."

Nicola said she was more concerned about the immediate emotional impact on Brad of "profound" findings from the process than the long-term consequences of any potential illness.

The $5,000 whole genome sequence and medical interpretation provided to Popovich by the Illumina Genome Network in San Diego, Calif., did not find an e4e4 configuration, or even a single APOE e4. So, that was a relief.

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The test for everything