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Category Archives: Transhuman News

Examining potential of clinical applications of whole-genome sequencing

Posted: March 11, 2014 at 5:43 pm

PUBLIC RELEASE DATE:

11-Mar-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5271 The JAMA Network Journals

In an exploratory study involving 12 adults, the use of whole-genome sequencing (WGS) was associated with incomplete coverage of inherited-disease genes, low reproducibility of detection of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable findings, although in certain cases WGS will identify genetic variants warranting early medical intervention, according to a study in the March 12 issue of JAMA.

As technical barriers to human DNA sequencing decrease and costs approach $1,000, whole-genome sequencing (WGS) is increasingly being used in clinical medicine. Sequencing can successfully aid clinical diagnosis and reveal the genetic basis of rare familial diseases. Regardless of context, even in apparently healthy individuals, WGS is expected to uncover genetic findings of potential clinical importance. However, comprehensive clinical interpretation and reporting of clinically significant findings are seldom performed, according to background information in the article. The technical sensitivity and reproducibility of clinical genetic findings using sequencing and the clinical opportunities and costs associated with discovery and reporting of these and other clinical findings remain undefined.

Frederick E. Dewey, M.D., of the Stanford Center for Inherited Cardiovascular Disease, Stanford, Calif., and colleagues recruited 12 volunteer adult participants who underwent WGS between November 2011 and March 2012. A multidisciplinary team reviewed all potentially reportable genetic findings. Five physicians proposed initial clinical follow-up based on the genetic findings.

The researchers found that the use of WGS was associated with incomplete coverage of inherited-disease genes (important parts of the genome for diseases that run in families are not as easy to read as other regions); there was low reproducibility of detection of genetic variation with the highest potential clinical effects (disagreement around the types of variation particularly important for disease); and there was uncertainty about clinically reportable WGS findings (experts disagree on which findings are most meaningful). Two to 6 personal disease-risk findings were discovered in each participant. Physician review of sequencing findings prompted consideration of a median (midpoint) of 1 to 3 initial diagnostic tests and referrals per participant.

The authors write that their clinical experience with this technology illustrates several challenges to clinical adoption of WGS, including that although analytical validity of WGS is improving, technical challenges to sensitive and accurate assessment of individual genetic variation remain. In addition, the human resource needs for full clinical interpretation of WGS data remains considerable, and much uncertainty remains in classification of potentially disease-causing genetic variants.

"These issues should be considered when determining the role of WGS in clinical medicine."

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Microbes and Metabolites Fuel an Ambitious Aging Project

Posted: at 5:43 pm

Craig Venters new company wants to improve human longevity by creating the worlds largest, most comprehensive database of genetic and physiological information.

Last week, genomics entrepreneur Craig Venter announced his latest venture: a company that will create what it calls the most comprehensive and complete data set on human health to tackle diseases of aging.

Human Longevity, based in San Diego, says it will sequence some 40,000 human genomes per year to start, using Illuminas new high-throughput sequencing machines (see Does Illumina Have the First $1,000 Genome?). Eventually, it plans to work its way up to 100,000 genomes per year. The company will also sequence the genomes of the bodys multitudes of microbial inhabitants, called the microbiome, and analyze the thousands of metabolites that can be found in blood and other patient samples.

By combining these disparate types of data, the new company hopes to make inroads into the enigmatic process of aging and the many diseases, including cancer and heart disease, that are strongly associated with it. Aging is exerting a force on humans that is exposing us to diseases, and the diseases are idiosyncratic, partly based on genetics, partly on environment, says Leonard Guarente, who researches aging at MIT and is not involved in the company. The hope for many of us who study aging is that by having interventions that hit key pathways in aging, we can affect disease.

But despite decades of research on aging and age-related diseases, there are no treatments to slow aging, and diseases like cancer, heart disease, and Alzheimers continue to plague patients. A more comprehensive approach to studying human aging could help, says Guarente. The key is to go beyond genome sequencing by looking at gene activity and changes in the array of proteins and other molecules found in patient samples.

To that end, Human Longevity will collaborate with Metabolon, a company based in Durham, North Carolina, to profile the metabolites circulating in the bloodstreams of study participants. Metabolon was an early pioneer in the field of metabolomics, which catalogues the amino acids, fats, and other small molecules in a blood or other sample to develop more accurate diagnostic tests for diseases (see 10 Emerging Technologies 2005: Metabolomics).

Metabolon uses mass spectrometry to identify small molecules in a sample. In a human blood sample, there are around 1,200 different types; Metabolons process can also determine the amount of each one present. While genome sequencing can provide information about inherited risk of disease and some hints of the likelihood that a person will have a long life, metabolic data provides information on how environment, diet, and other features of an individuals life affect health.

Metabolic data can also help researchers interpret the results of genome-based studies, which can often pinpoint a particular gene as important in a disease or a normal cellular process without clarifying what that gene actually does. If a particular metabolite is found to correlate with a particular genetic signal in a study, then researchers have a clue as to the function of the DNA signal.

And changes in blood metabolites are not just caused by changes in human cell behavior: the microbes that live in our bodies produce metabolites that can be detected in blood, says John Ryals, CEO and founder of Metabolon. When you get certain diseases, we believe your gut microbiome is changing its composition, and that leads to changes in what molecules are being made, he says.

Ryals says his company, working with collaborators, has already shown that blood biochemistry changes with aging: You can tell how old someone is just by looking at their metabolites.

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Microbes and Metabolites Fuel an Ambitious Aging Project

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Free Help # 30 – Vegan Diet with Acne, Eczema as a Kid – Video

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Free Help # 30 - Vegan Diet with Acne, Eczema as a Kid
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Detecting, testing, treating rare diseases: Technology delivers new era of personalization

Posted: 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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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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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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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.

By: Hue Jass

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Ernie does what? (Unnecessary Censorship) - 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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