Daily Archives: March 11, 2014

Detecting, testing, treating rare diseases: Technology delivers new era of personalization

Posted: March 11, 2014 at 5:43 pm

PUBLIC RELEASE DATE:

10-Mar-2014

Contact: Sandy Van sandy@prpacific.com 808-526-1708 Cedars-Sinai Medical Center

LOS ANGELES (March 10, 2014) A team of researchers from the National Institutes of Health, Emory University and Cedars-Sinai specialists in identifying and treating very rare diseases used three innovative tools to detect a previously unknown gene mutation, test potential therapies in the lab, and initiate personalized drug treatment for a boy with a lifelong history of uncontrollable seizures that caused significant impact on his cognitive and social development.

"This personalized medical approach exemplifies the power of current research tools and shows the immense potential of applying these technologies for future patients," said Tyler Mark Pierson, MD, PhD, a pediatric neurologist and member of the Department of Pediatrics and the Department of Neurology at Cedars-Sinai. Pierson, a member of the research faculty at the Cedars-Sinai Regenerative Medicine Institute, is first author of an article in Annals of Clinical and Translational Neurology that published online March 3 ahead of print.

Pierson was a member of the National Institutes of Health's Undiagnosed Diseases Program when he was introduced to the patient and his family. The child was first seen at the NIH-UDP when he was 6; he was diagnosed with early-onset epileptic encephalopathy of unknown etiology. The patient had experienced treatment-resistant seizures since 3 months of age, which caused significant issues with brain development resulting in global developmental delay. The NIH-UDP is a program of NIH's National Human Genome Research Institute (NHGRI), Office of Rare Diseases Research, and Clinical Center.

The researchers identified a "de novo" gene mutation one that occurs for the first time in a member of a family in a gene called GRIN2A. The discovery required an analysis of the patient's genetic makeup in search of the one gene that changed, setting this detrimental series of events in motion. Pierson and his colleagues at the NIH-UDP and Emory University used a recently developed technique called exome sequencing, which focuses on this "functional" part of the genome. They further employed a unique set of data bases and "filters" to streamline their search and screen out false positive results, which are fairly common with new-generation technology that rapidly analyzes thousands of genetic sequences.

"Genome-scale sequencing is a powerful new tool in medical diagnostics. The data it returns, however, can be challenging to interpret, especially for ultra-rare disorders. The rapid bench-to-bedside story of the GRIN2A variation in this family is an example of the coalescence of expertise in medicine, medical genomics and basic science around a single child. This is the type of collaboration that will be needed in an age where we will struggle to connect vast data-collecting capability with the health of individual people," said David Adams, MD, PhD, pediatrician and biochemical geneticist at NHGRI.

Pierson added that many other genes have been associated with several forms of epilepsy in infancy, but only few other instances of early-onset epileptic encephalopathy involved the GRIN2A gene. The GRIN2A gene influences electrochemical events that affect the flow and strength of electrical impulses in the brain.

Having identified the de novo gene defect, the researchers conducted laboratory experiments to confirm the resulting protein dysfunction and its effects on electrical-regulating mechanisms.

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Detecting, testing, treating rare diseases: Technology delivers new era of personalization

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Artform Gallery presents – "Politically Incorrect" Meet The Artists 3 – Video

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Artform Gallery presents - "Politically Incorrect" Meet The Artists 3
Saturday March 1st Artform Gallery introduced a new art show benefiting and exploring human rights called "Politically Incorrect". The show features amazing ...

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Artform Gallery presents - "Politically Incorrect" Meet The Artists 3 - Video

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TGBSR Ep. 1: Politically incorrect – Video

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TGBSR Ep. 1: Politically incorrect
Fonte: http://www.spreaker.com/user/thegoldenboyshow/tgbs-ep-1-politically-incorrect.

By: The GoldenBoy Show

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TGBSR Ep. 1: Politically incorrect - Video

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South Park Stick Of Truth: Censorship In Europe Is Bullshit! + Ololol Swastika Censored In Germany. – Video

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South Park Stick Of Truth: Censorship In Europe Is Bullshit! + Ololol Swastika Censored In Germany.
As you may know the new South Park game is censored in Europe and elsewhere. Anyone else think this is just complete shit?! Comment - Rate - Subscribe. Sourc...

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South Park Stick Of Truth: Censorship In Europe Is Bullshit! + Ololol Swastika Censored In Germany. - Video

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Yu-Gi-Oh! Censorship – Discussion With AlintheaYoh – Video

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Yu-Gi-Oh! Censorship - Discussion With AlintheaYoh
Check Them Out: https://www.youtube.com/user/AlintheaYoh --------------------------- Want To Find Me!? My Cardfight Vanguard Channel: http://www.youtube.com/...

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Ernie does what? (Unnecessary Censorship) – Video

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Ernie does what? (Unnecessary Censorship)
What is normally used to make something more kid friendly, is now used to do the opposite.

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Ernie does what? (Unnecessary Censorship) - Video

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The Sad Truth Of International Censorship, Part II – Video

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The Sad Truth Of International Censorship, Part II
You guys made some good points! Let #39;s talk about them!

By: Gaijin Goombah

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Censorship by CMHR alleged

Posted: at 5:40 pm

Brandon Sun - ONLINE EDITION

By: Bartley Kives

Tuesday, Mar. 11, 2014 at 8:09 AM | Comments: 0

KEN GIGLIOTTI / WINNIPEG FREE PRESS FILES Enlarge Image

The Canadian Museum for Human Rights says the facility has expectations of guest bloggers' content.

The Canadian Museum for Human Rights is weathering a censorship allegation after deleting a blog post it commissioned from a Tyrell Historical Medal-winning Canadian historian.

To coincide with International Women's Day, the Winnipeg-based museum asked Veronica Strong-Boag, a historian specializing in the history of women and children in Canada, to pen a blog post in her area of expertise.

The post appeared on March 4, but was removed hours later after museum staff deemed a passage criticizing the federal Conservative government unacceptable.

The passage in question described the Conservatives as having an "anti-woman record." She said museum staff first asked her to back up that claim, but ultimately rejected a footnoted posting as a partisan statement.

In a letter to Strong-Boag, museum communications director Angela Cassie apologized for failing to explain what was expected from blog-post authors.

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Censorship by CMHR alleged

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Being Human: Too Far, Fast Forward!

Posted: at 5:40 pm

[This is a review ofBeing HumanSeason 4 Episode 9. There will be SPOILERS.]

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Whereas last weeks episode ofBeing Human,Rewind, Rewind, almost felt like a new beginning for the series as it heads for its end, this weeks episode felt very aware of Being Humans mortality, pivoting off of last weeks cliffhanger with predictability and a sprint back toward the shows prime timeline comfort zone.

Inevitable? Probably, but in doing this so quickly, the writers shorthand Aidans emotional arc from vengeance monster to Bishops duplicitous house pet to penitent man following a convenient epiphany, robbing both the character and this episode of virtue and value.

Speaking of Bishop, last night was most likely a series wrap for Mark Pelligrinos wonderfully evil father-figure/blood monster and he parted with a mix of bombast and grace. Pellegrino is one of those actors that seem to pop up everywhere, but he really had a chance to put down roots with Being Human and he shined as a well-drawn character; particularly in later seasons after the characters death, when he appeared as a dominant figure in Aidans past -someone who represented Aidans debauched old ways, and an ideal to push back against.

Its symbolic that Bishops finest moment from last nights episode (though, his death-bed speech about Aidans move away from all the light in his life to become, essentially, the King of everything and nothing, was well-played and affecting) came in, presumably, the same warehouse where he died in season 1. This time, Bishop is devil-shouldering Aidan into killing Ray and Josh, with Aidan ultimately phasing through Josh (he can do that?) to jam Rays eyes out and toss him off the catwalk. An act that, once again, reveals Aidans monstrous capacity to Sally while also showing the ease with which Bishop can steer Aidan off a cliff.

One thing that Bishop couldnt push Aidan to do was kill Josh. Instead, Aidan put guilt on his shoulders and assigned him to a fate far worse for his role in Sallys death: life as a beanie wearing pie maker with the ghost of Sally trying to play matchmaker for Josh and his customers.

An Aiden-centric episode, Joshs arc does prove valuable as he is used to facilitate Sallys search for Alana (the medium that introduced her to Donna) and eventually Donna. Joshs blood also proves useful when the vampire virus rears its head, saving Aidan and equipping him with the tools needed to rebel against Bishop out of envy, not out of conscience.

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Being Human: Too Far, Fast Forward!

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Town Futurist – The ingredients – Video

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Town Futurist - The ingredients
Town Futurist - The ingredients.

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