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Category Archives: Transhuman News
The Big Data Savings Fallacy – Video
Posted: November 11, 2014 at 5:43 pm
The Big Data Savings Fallacy
How to use Google Trends and Google Correlate properly:The original unabridged version of the video that went viral (with the cute donkey).By A. Skeptic.2014 Big Data is the business equivalent...
By: Klaus Gottlieb
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The Big Data Savings Fallacy - Video
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The Human Genome Project – Sanger Sequencing Part 2 – Video
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The Human Genome Project - Sanger Sequencing Part 2
In this video we discuss the Human Genome Project and specifically look at how the fragments within genome libraries are sequenced.
By: Ben Garside
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The Human Genome Project - Sanger Sequencing Part 2 - Video
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Thousands of never-before-seen human genome variations uncovered
Posted: at 5:42 pm
Thousands of never-before-seen genetic variants in the human genome have been uncovered using a new genome sequencing technology. These discoveries close many human genome mapping gaps that have long resisted sequencing.
The technique, called single-molecule, real-time DNA sequencing (SMRT), may now make it possible for researchers to identify potential genetic mutations behind many conditions whose genetic causes have long eluded scientists, said Evan Eichler, professor of genome sciences at the University of Washington, who led the team that conducted the study.
"We now have access to a whole new realm of genetic variation that was opaque to us before," Eichler said.
Eichler and his colleague report their findings Nov. 10 in the journal Nature.
To date, scientists have been able to identify the genetic causes of only about half of inherited conditions. This puzzle has been called the "missing heritability problem." One reason for this problem may be that standard genome sequencing technologies cannot map many parts of the genome precisely. These approaches map genomes by aligning hundreds of millions of small, overlapping snippets of DNA, typically about 100 bases long, and then analyzing their DNA sequences to construct a map of the genome.
This approach has successfully pinpointed millions of small variations in the human genome. These variations arise from substitution of a single nucleotide base, called a single-nucleotide polymorphisms or SNP. The standard approach also made it possible to identify very large variations, typically involving segments of DNA that are 5,000 bases long or longer. But for technical reasons, scientists had previously not been able to reliably detect variations whose lengths are in between -- those ranging from about 50 to 5,000 bases in length.
The SMRT technology used in the new study makes it possible to sequence and read DNA segments longer than 5,000 bases, far longer than standard gene sequencing technology.
This "long-read" technique, developed by Pacific Biosciences of California, Inc. of Menlo Park, Calif., allowed the researchers to create a much higher resolution structural variation map of the genome than has previously been achieved. Mark Chaisson, a postdoctoral fellow in Eichler's lab and lead author on the study, developed the method that made it possible to detect structural variants at the base pair resolution using this data.
To simplify their analysis, the researchers used the genome from a hydatidiform mole, an abnormal growth caused when a sperm fertilizes an egg that lacks the DNA from the mother. The fact that mole genome contains only one copy of each gene, instead of the two copies that exist in a normal cell. simplifies the search for genetic variation.
Using the new approach in the hydatidiform genome, the researchers were able to identify and sequence 26,079 segments that were different from a standard human reference genome used in genome research. Most of these variants, about 22,000, have never been reported before, Eichler said.
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Thousands of never-before-seen human genome variations uncovered
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Dr Ang Yong Guan – Emotional Resilience Workshop – Video
Posted: at 5:42 pm
Dr Ang Yong Guan - Emotional Resilience Workshop
Organised by Leo Pharma and supported by the Psoriasis Association of Singapore, Psoriasis patients and friends were invited for this insightful talk by Dr A...
By: The Psoriasis Man Ray Chua
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Dr Ang Yong Guan - Emotional Resilience Workshop - Video
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Psoriasis Revolution Review | Amazing Psoriasis Revolution Review By Dan Crawford – Video
Posted: at 5:42 pm
Psoriasis Revolution Review | Amazing Psoriasis Revolution Review By Dan Crawford
http://www.tinyurl.com/psoriasisrevolutionnow Psoriasis Revolution Review: Lots of people around the globe suffer from a horrible skin disease known as psoriasis, a chronic dermatological condition...
By: Ana Castle
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Psoriasis Revolution Review | Amazing Psoriasis Revolution Review By Dan Crawford - Video
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Amgen Reveals Positive Data For Brodalumab In Patients With Plaque Psoriasis
Posted: at 5:42 pm
By RTT News, November 11, 2014, 04:14:00 PM EDT
(RTTNews.com) - Amgen ( AMGN ) and AstraZeneca ( AZN ) Tuesday announced that AMAGINE-3, a pivotal, multi-arm Phase 3 trial evaluating two doses of brodalumab in more than 1,800 patients with moderate-to-severe plaque psoriasis, met its primary endpoints when compared with both Stelara (ustekinumab) and placebo at week 12.
In the trial, Brodalumab was shown to be superior to Stelara on the primary endpoint of achieving total clearance of skin disease, as measured by the Psoriasis Area Severity Index (PASI 100).
When compared with placebo, a significantly greater proportion of patients treated with brodalumab achieved at least a 75 percent improvement from baseline in disease severity at week 12, as measured by the Psoriasis Area Severity Index (PASI 75).
A significantly greater proportion of patients treated with brodalumab also achieved clear or almost clear skin at week 12 compared with placebo, according to the static Physician Global Assessment (sPGA 0 or 1). All key secondary endpoints comparing brodalumab with Stelara and placebo were also met.
Results showed that 36.7 percent of patients in the brodalumab 210 mg group, 27.0 percent of patients in the brodalumab 140 mg group, 18.5 percent of patients in the Stelara group and 0.3 percent of patients in the placebo group achieved total clearance of skin disease (PASI 100).
In addition, 85.1 percent of patients in the brodalumab 210 mg group, 69.2 percent of patients in the brodalumab 140 mg group, 69.3 percent of patients in the Stelara group and 6.0 percent of patients in the placebo group achieved PASI 75.
"Despite a variety of treatment options available for psoriasis, many patients still do not meet skin clearance goals," said Sean Harper, executive vice president of Research and Development at Amgen. "These results are of particular importance as they are the first to demonstrate superiority to Stelara in achieving total skin clearance, and the second positive pivotal Phase 3 study evaluating brodalumab in patients with moderate-to-severe plaque psoriasis."
The most common adverse events that occurred in the brodalumab arms (more than 5 percent of patients in either group) were common cold, joint pain, upper respiratory tract infection and headache. Serious adverse events occurred in 1.4 percent of patients in the 210 mg group and 1.6 percent of patients in the 140 mg group compared with 0.6 percent for Stelara and 1.0 percent for placebo during the placebo-controlled period.
Brodalumab is the only investigational treatment in development that binds to the interleukin-17 (IL-17) receptor and inhibits inflammatory signaling by blocking the binding of several IL-17 cytokines (A, F, A/F and C) to the receptor. The IL-17 receptor and cytokine family play a central role in development and clinical manifestation of plaque psoriasis.
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Amgen Reveals Positive Data For Brodalumab In Patients With Plaque Psoriasis
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The Psoriasis Association launches series of leaflets for people living with the condition
Posted: at 5:42 pm
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There is an estimated, 1.8 million people in the UK who are living with psoriasis, a chronic autoimmune condition that affects the skin and joints.
The condition causes red, flaky, crusty patches of skin covered with silvery scales which normally appear on the elbows, knees, scalp and lower back but can appear anywhere on your body.
It can start at any age, but most often develops in adults under 35 and can affect men and women equally.
To mark Psoriasis Awareness Week, the Psoriasis Association has launched a new range of leaflets to provide patients with comprehensive information about their psoriasis and the care options available on the NHS so patients do not have to suffer in silence.
The leaflets have been developed in response to a mounting call for high quality patient information - revealed in a number of independent reports published over the last 18 months.
A report published last month Patients in Control: why people with long-term conditions must be empowered found more than half of respondents were not offered support or information on their long-term condition at diagnosis.
The series of leaflets aims to address that information gap with information beyond the basics of what the condition is and are available through doctors and on the Psoriasis Association website.
Chairman Ray Jobling, who lives in Cambridge and has suffered with psoriasis for nearly 60 years, said they wanted to make people aware of the different treatments available.
People who have psoriasis, and in some cases sadly have it for quite a long while, they get stuck on the same form of treatment, he said. We like to try and keep people up to date, theres lots of new treatments coming in, and good ways for how people can support themselves.
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The Psoriasis Association launches series of leaflets for people living with the condition
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Multiple models reveal new genetic links in autism
Posted: at 5:42 pm
PUBLIC RELEASE DATE:
11-Nov-2014
Contact: Scott LaFee slafee@ucsd.edu 619-543-6163 University of California - San Diego @UCSanDiego
With the help of mouse models, induced pluripotent stem cells (iPSCs) and the "tooth fairy," researchers at the University of California, San Diego School of Medicine have implicated a new gene in idiopathic or non-syndromic autism. The gene is associated with Rett syndrome, a syndromic form of autism, suggesting that different types of autism spectrum disorder (ASD) may share similar molecular pathways.
The findings are published in the Nov. 11, 2014 online issue of Molecular Psychiatry.
"I see this research as an example of what can be done for cases of non-syndromic autism, which lack a definitive group of identifying symptoms or characteristics," said principal investigator Alysson Muotri, PhD, associate professor in the UC San Diego departments of Pediatrics and Cellular and Molecular Medicine. "One can take advantage of genomics to map all mutant genes in the patient and then use their own iPSCs to measure the impact of these mutations in relevant cell types. Moreover, the study of brain cells derived from these iPSCs can reveal potential therapeutic drugs tailored to the individual. It is the rise of personalized medicine for mental/neurological disorders."
But to effectively exploit iPSCs as a diagnostic tool, Muotri said researchers "need to compare neurons derived from hundreds or thousands of other autistic individuals." Enter the "Tooth Fairy Project," in which parents are encouraged TO register for a "Fairy Tooth Kit," which involves sending researchers like Muotri a discarded baby tooth from their autistic child. Scientists extract dental pulp cells from the tooth and differentiate them into iPSC-derived neurons for study.
"There is an interesting story behind every single tooth that arrives in the lab," said Muotri.
The latest findings, in fact, are the result of Muotri's first tooth fairy donor. He and colleagues identified a de novo or new disruption in one of the two copies of the TRPC6 gene in iPSC-derived neurons of a non-syndromic autistic child. They confirmed with mouse models that mutations in TRPC6 resulted in altered neuronal development, morphology and function. They also noted that the damaging effects of reduced TRPC6 could be rectified with a treatment of hyperforin, a TRPC6-specific agonist that acts by stimulating the functional TRPC6 in neurons, suggesting a potential drug therapy for some ASD patients.
The researchers also found that MeCP2 levels affect TRPC6 expression. Mutations in the gene MeCP2, which encodes for a protein vital to the normal function of nerve cells, cause Rett syndrome, revealing common pathways among ASD.
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Multiple models reveal new genetic links in autism
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Tinkering with a gene could control addiction, depression
Posted: at 5:42 pm
New York, Nov 11 (IANS): Effecting changes to a single gene called FosB could help control both addiction and depression, says a new research.
Researchers have also developed a DNA regulatory technique that modifies the environment around this gene to control gene expression and behavioural consequences.
Using mouse models, the researchers introduced synthetic-transcription factors into a brain region called the nucleus accumbens near the gene FosB.
They found that changes to this single gene brought on by the transcription factors made the study mice more resilient to stress and less likely to become addicted to cocaine.
Transcription factors act by epigenetic mechanisms: chemically modifying either the DNA itself, or the histone proteins packaged around DNA.
"Because such epigenetic regulation occurs at hundreds or thousands of genes, until now it had been impossible to determine the difference between the mere presence of an epigenetic modification and its functional relevance to neuropsychiatric disease," said lead researcher Eric Nestler from Icahn School of Medicine at Mount Sinai.
To directly address this issue, the researchers developed an innovative method to control epigenetic regulation of FosB.
Heller introduced synthetic transcription factors called Zinc Finger Proteins (ZFPs), designed to target only a single gene out of 20,000, by incorporating them into a virus and injecting that virus into the reward-related brain region.
Upon binding to that one gene, the FosB-ZFPs modified histones in the vicinity of the FosB gene, in order to either activate (turn on) or repress (turn off) expression.
The study appeared online in the journal Nature Neuroscience.
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Tinkering with a gene could control addiction, depression
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Sci-fi meets wi-fi in a mind over gene experiment
Posted: at 5:42 pm
Playing a computer game or letting your mind go to its happy place might one day ease a migraine, administer drugs or prevent epileptic seizures, according to Swiss bioengineers who pulled off a strange mind-over-gene trick.
The researchers took advantage of a technique that engineers genes to switch into action in response to light input. But instead of just flipping on a light, they got brain waves to trip the switch.
Neither element by itself is all that novel these days. Synthetic biology and cybernetics have brought us the ability to insert DNA that responds to light into the regulatory programming of a gene. Electroencephalogram (EEG) receivers, which detect voltage changes from brain cells, have been linked to computers to control movement of prosthetic limbs or to play computer games. Hooking that up in tandem was the trick.
A brain is essentially nothing else but electricity the nerve cells firing electricity around as our brain thinks, said bioengineer Martin Fussenegger of the Swiss Federal Institute of Technology, lead investigator of the study published online Tuesday in Nature Communications. So we have electricity, which can then be linked to the light, and the light can then be linked to gene expression. If we daisy-chain these features, it allows us to control transgenes by the power of our thoughts.
The gene they used isnt as important as the concept itself at least not yet. They chose one that triggered production of a protein thats easy to see and measure, to figure out if their synthetic signalingpathway would work. Still, these were human brain waves controlling the inner workings of cells derived from human kidney stem cells -- albeit injected in a mouse.
The human volunteers needed little training beyond learning to play Minecraft, or taking relaxing breaths and thinking pleasant thoughts, Fussenegger said. Once they learned to associate such mental states with the light rigged to the mouse, they readily tinkered with the rodents genetic biochemistry.
Scientists aren't really after this kind of purposeful mind control of genetic activity - after all, it's a lot easier to just push a button to turn on implanted light-sensitive DNA.
What we intend to do is to capture pathological brain wave patterns, Fussenegger said.
That way, Fussenegger said, the brain waves could automatically trigger genes involved in pain mitigation, or perhaps genes engineered to administer medicine for those who are "locked in" by degenerative brain diseases.
A proof of concept is always a crucial step in science, but its also a baby step. Even if this strange bit of sci-fi wi-fi leads in the right direction, there are some foreseeable chasms to bridge en route to a world in which we think our way to health.
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Sci-fi meets wi-fi in a mind over gene experiment
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