Archive for October, 2013

PUBLIC RELEASE DATE:

18-Oct-2013

Contact: Robin Mackar rmackar@niehs.nih.gov 919-541-0073 NIH/National Institute of Environmental Health Sciences

A gene important in skin tanning has been linked to higher risk for testicular cancer in white men, according to a study led by scientists from the U.S. National Institutes of Health and the University of Oxford in England. Nearly 80 percent of white men carry a variant form of this gene, which increased risk of testicular cancer up to threefold in the study.

The research appeared online October 10, 2013 in the journal Cell, and is the result of an integrated analysis of big data supported by laboratory research. The team suspected that variations in a gene pathway controlled by the tumor suppressor gene p53 could have both positive and negative effects on human health.

"Gene variations occur naturally, and may become common in a population if they convey a health benefit," said Douglas Bell, Ph.D., author on the paper and researcher at the National Institute of Environmental Health Sciences (NIEHS), part of NIH. "It appears that this particular variant could help protect light-skinned individuals from UV skin damage, like burning or cancer, by promoting the tanning process, but it permits testicular stem cells to grow in the presence of DNA damage, when they are supposed to stop growing."

Bell explained that p53 stimulates skin tanning when ultraviolet light activates it in the skin. It then must bind a specific sequence of DNA located in a gene called the KIT ligand oncogene (KITLG), which stimulates melanocyte production, causing the skin to tan.

To conduct the analysis, Xuting Wang, Ph.D., of NIEHS, co-author and lead bioinformatics scientist on the paper, led a data mining expedition to sieve through many different data sets. The team selected possible leads from the intersection of more than 20,000 p53 binding sites in the human genome, 10 million inherited genetic variations genotyped in the 1000 Genomes Project, and 62,000 genetic variations associated with human cancers identified in genome-wide association studies (GWAS). These data sets were gathered through joint efforts of thousands of researchers from around the world.

"In the end, one variant in the p53 pathway was strongly associated with testicular cancer, but also, surprisingly, displayed a positive benefit that is probably related to tanning that has occurred as humans evolved," Wang noted.

The group at the Ludwig Institute for Cancer Research at the University of Oxford, led by Gareth Bond, Ph.D., performed complex experiments to confirm the molecular mechanism that linked the variant with cancer and tanning.

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Tanning gene linked to increased risk of testicular cancer, according to NIH scientists

I am 99.9% sure that there will never be commercial production of genetically engineered wine grapes ("GMO" to use the common misnomer). Even so, I'd like to indulge in imagining what could be if we lived in some parallel universe where rational scientific thinking prevailed.

Wine grapes are an extremely logical crop for genetic engineering because there is no tolerance for changing varieties. For annual crops like grains or vegetables, new varieties are bred on a regular basis to solve pest issues or to improve features like taste or shelf life. Breeding of perennial fruit crops is a much, much slower process, but entirely new varieties are still introduced from time to time (e.g. Jazz or Pink Lady apples). Even what we call "heirloom varieties" of most vegetable or fruit crops are mostly quite young by wine grape standards.

Chardonnay grown in Colorado

Conventional breeding just isn't a viable option for wine grapes, not because it couldn't be done, but because in an industry so focused on quality and tradition, no one would consider it. The wine industry is based on specific varieties which are hundreds of years old and for which no new variety would ever be acceptable. That is true for varieties in their original appellations (e.g. Pinot Noir and Chardonnay in Burgundy or Cabernet Sauvignon and its blending partners in Bordeaux). It is also true for those same varieties that now make great wines in "New World" (e.g. Malbec in Argentina, Zinfandel in California, or Syrah in Australia).

Therefore, wine grape varieties have been cloned for hundreds of years, specifically to avoid any genetic change (they have always been grown from rooted cuttings or from grafted buds). Grapes make seeds, but the seed won't grow up to be the same variety as the parent, thus they are never used as a way to grow new vines.

Of course, by sticking to very old varieties, wine grape growers must deal with many problems which might otherwise have been solved through breeding. Grape growers have been able to deal with some pests that attack the roots by grafting onto diverse "root stocks" with novel genetics. That was the solution to the great Phylloxera epidemic of the 19th century. But rootstocks can only help with a limited number of grape growing challenges.

Biotechnology is a perfect solution for wine grape issues because it allows changes to address one specific problem without disrupting any of the characteristics that determine quality. Of course, each variety would have to be individually transformed, but in our imaginary rational universe the regulatory regime would be made easier for multiple uses of the same basic genetic construct.

So, genetic engineering could be a very cool solution for various challenges for grapes. I'll list a few of the diseases that might be fixable this way.

As I described in an earlier post, the noble grapes of Europe must now be rather intensively sprayed with fungicides because a disease called Downy Mildew was introduced in the mid-1800s from New World grape species. Those same North American species have a good deal of resistance to that disease, and the genes for those traits could probably be identified and moved into the traditional, high-quality varieties.

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Why Genetically Engineered Grapes Would Make Great Wine

"We can fit another stop codon over here next to the kitchen."

Yes, their creators call the Genomically Recoded Organisms they madeGROs. But they are not quite as menacing as they sound.

Genetic engineering had, until Y2K at least, was not exactly what it sounds like. No one was really engineering completely new genes that encoded completely new proteins that generated completely new life forms. But the newest generation of tinkerers thought: why not?

The genetic code that is used universally by all life on Earthgiant sequoias, daddy long legs, bakers yeast, barracudas, ring tailed lemurs, you get the idea. It dictates that specific amino acids are encoded by specific combinations of three nucleotide DNA sequences, called codons.

These tinkerers decided that this doesn't need to limit us. And ,just because this genetic code, and the entire variety of life defined by it uses only twenty amino acids; again, why should we? The researchers' attempt to work around these limits is reported in this weeks Science. These upstarts, led by Farren Isaacs at Yale but including people at Harvard, MIT, Columbia, and the Scripps Research Institute, decided to alter the genetic code and generate proteins with nonstandard amino acids.

Why would they do such a thing? The fact that all organisms share a genetic code means we can share genes, which can be good or bad. Notably, viruses hijack cellular machinery so whatever cell they are infecting makes viral proteins instead of what the cell itself needs; GROs might not have this problem. And there are those that are concerned about genetically modified organisms (GMOs) releasing DNA into the environment; if these were genomically recoded in addition to being genetically modified (GRO-GMOs?) this should pose less of a risk.

You might think that they'd start small, with a virus. But this is the super cool part: the organism they genomically recoded is a bacterium, a strain of Escherichia coli. Like all other life forms, E. coli uses three distinct stop codons to signal a halt to protein production. These researchers changed all the instances of one of these stop codons (UAG) into another, AUG. (We've covered the technology that enables this.) This enabled them to get rid of the cellular machinery that recognizes the UAG as a signal to stop making proteins.

Once that was eliminated, they reinserted UAG codons along with new machinery that recognized it as a regular codon, encoding a particular amino acidonly a nonstandard one not used by or found in any other life form. They reassigned a codon to create an alternate genetic code. Nifty right?

This GRO grew even more efficiently than the strain form which it was generated, and it exhibited significantly enhanced resistance to T7 bacteriophage, probably because it would mistranslate any viral proteins containing UAG codons. Oops from the virus' perspective, but good for the bacteria.

The authors note that they have identified an additional twelve codons that may be amenable to removal and eventual reassignment in E. coli, helping them achieve their goal of incorporating nonstandard amino acids that expand the chemical diversity of proteins in vivo. Whether or not they enhance virus resistance, the whole genomic recoding thing is cool as hell.

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Meet the genomically recoded organisms

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Researchers have identified hundreds of variants in a patient's genetic code that predict which people are more susceptible to persistent chronic pain following amputation.

Dr. Andrew D. Shaw, associate professor of anesthesiology and critical care medicine at Duke University Medical Center in Durham, NC, and colleagues conducted the study on 49 military service members who had amputations and persistent pain.

The International Association for the Study of Pain (IASP) states that 80% of all amputees experience pain in the missing body part - known as phantom limb pain.

Patients complain that the pain is similar to that prior to amputation and is more likely to occur after the amputation of a chronically painful limb.

The IASP explains that large-scale surveys of amputees have revealed that treatments for phantom limb pain are often ineffective, suggesting that they fail to address the underlying mechanisms.

The new Duke University Medical Center study claims that new DNA sequence variations may be "pathways of biological importance as the possible source of chronic, persistent pain."

Dr. Shaw explains:

"Persistent phantom pain after amputation is a serious problem with no effective treatments. By identifying these 'pain genes,' we may be able to discover the reasons why pain occurs and predict which patients are more likely to have it. In the future, we hope to discover the biology of persistent pain and develop ways to combat it."

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'Pain genes' identified by DNA sequencing

Association of Molecular Pathology v. Myriad Genetics, Inc, SCIPR 2013

By: IIT Chicago-Kent College of Law

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Association of Molecular Pathology v. Myriad Genetics, Inc, SCIPR 2013 - Video

Newswise BETHESDA, MD (October 18, 2013) -- The Genetics Society of America (GSA) welcomes the election of five members to its Board of Directors. The new members include a vice presidentwho will serve as president of the Society in 2015a treasurer, and three directors. They are:

Jasper Rine, PhD (University of California, Berkeley). Dr. Rine will serve as vice president in 2014 and as GSA president in 2015. Sue Jinks-Robertson, PhD (Duke University Medical School), treasurer. Angelika Amon, PhD (Howard Hughes Medical Institute and Massachusetts Institute of Technology), director. Lauren McIntyre, PhD (University of Florida), director. Dmitri Petrov, PhD (Stanford University), director.

We are gratified that such talented scientists and thoughtful educators will volunteer their expertise and limited time to provide leadership for GSA, said GSA Executive Director Adam P. Fagen, PhD. As we welcome these new Board members, we thank the outgoing officers and directors for their dedicated service and look forward to their continued involvement in the Society.

These new officers and directors begin their tenure on January 1, 2014, and will remain on the GSA Board until December 31, 2016.

New Members of the GSA Board of Directors

Vice President (and President-Elect): Jasper Rine, PhD, Professor of Genetics, Genomics and Development, University of California, Berkeley, CA

Dr. Rine investigates epigeneticschanges in gene expression or cell traits not caused by changes in DNA sequenceusing brewers yeast (Saccharomyces cerevisiae), a powerful model organism in genetics. His lab is currently focused on exploring yeast and human genetic and epigenetic variation with the eventual goal of understanding gene silencing and identifying human gene variants whose impact can be addressed through diet. Dr. Rine is an elected member of the National Academy of Sciences and the American Academy of Arts and Sciences and a fellow of the American Association for the Advancement of Science. He serves as a Reviews Editor for GSAs journal GENETICS and an associate editor for GSAs journal G3: Genes|Genomes|Genetics.

Treasurer: Sue Jinks-Robertson, PhD, Professor of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC

Dr. Jinks-Robertson and her lab are examining the regulation of DNA repair and surveillance mechanisms, essential for preventing mutagenesis and maintaining genome stability, using brewers yeast (Saccharomyces cerevisiae) as a model system. Dr. Jinks-Robertson is a fellow of the American Academy of Microbiology and the American Association for the Advancement of Science. She previously served on the GSA Board as a Director from 2010 to 2012 and is founding chair of the Societys Women in Genetics Committee.

Directors: Angelika Amon, PhD, Investigator, Howard Hughes Medical Institute, and Professor of Biology, Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA

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Genetics Society of America Welcomes 2014 Board Members

New York, NY and Stamford, CT (PRWEB) October 18, 2013

More than 100 prominent donors, scientists, biotech representatives, and physicians attended Alliance for Cancer Gene Therapys Achieving Cancer Remission with Cell and Gene Therapies Tuesday night at the Harvard Club of New York City, 35 W. 44th Street.

The evening highlighted recent tremendous strides made in combating cancer with cell and gene therapy treatments, and served as appreciation for donors who have committed time and funds to furthering research and clinical trials across the nation.

Our donors have allowed top scientific minds to explore this new and promising avenue of cancer treatment, and their philanthropy is directly linked to the lives saved so far, said Barbara Netter, who co-founded Stamford-based ACGT in 2001 alongside her husband, Edward. Mrs. Netter stressed that much additional research needs to be funded in order to achieve the goal of the fully successful treatment of all types of cancer. To further that goal, Mrs. Netter has assumed the mantle of President of ACGT to chart a strategic course for the organizations continued success.

Guests were treated to an elegant reception at the Harvard Club, followed by a salutation from host Dr. Savio Woo. Dr. Woo Chairman of ACGTs Scientific Advisory Council and Professor of Hematology and Oncology at the Tisch Cancer Institute at Mount Sinai School of Medicine in New York City was instrumental in ACGTs founding over a decade ago. Also in attendance was Connie Burnett-West, a cancer survivor who overcame a critical case lung cancer with gene and cell therapy treatment.

Surgery and radiation werent options, and I was told I had limited hope for recovery, Burnett-West said. But after a sixth-month course of gene therapy, Ive been in remission for over 10 years. I could not have imagined a treatment so easy and effective.

The evenings capstone was a presentation from three of ACGTs esteemed and award winning Research Fellows. Carl H. June (M.D., University of Pennsylvania), Laurence Cooper (M.D., Ph.D., MD Anderson Cancer Center) and Michel Sadelain (M.D., Ph.D., Memorial Sloan-Kettering Cancer Center) spoke of the breakthroughs and growing momentum that gene and cell therapy has achieved with the support of ACGT.

ACGT has the potential to provide less expensive and less harrowing cancer treatment and, ultimately, a cure, Dr. Carl June said. And all of ACGTs life-saving work was funded through philanthropy.

Moving forward, Barbara Netter noted that ACGT will continue its outstanding commitment to treating all forms of cancer. Exclusive interviews with Research Fellows are available on ACGTs YouTube channel.

For interview opportunities with Research Fellows and/or survivors, please contact Kat McKee at kat(at)cocommunications(dot)com, or (914) 666-0066. For additional information on the Research Fellows and Dr. Woo, see the final page of this release.

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ACGT’s Top Researchers and Physicians Discuss the Success of Gene and Cell Therapy

Motivational speaker author and mentor. how I received my spinal cord injury, quadriplegic)
Motivational speaker author and mentor Charles Fleisher speaks about how received his spinal cord injury, quadriplegic)

By: Charles Fleisher

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Motivational speaker author and mentor. how I received my spinal cord injury, quadriplegic) - Video

Public release date: 17-Oct-2013 [ | E-mail | Share ]

Contact: Kevin Jiang kevin.jiang@uchospitals.edu 773-795-5227 University of Chicago Medical Center

Changes in gene regulation have been used to study the evolutionary chasm that exists between humans and chimpanzees despite their largely identical DNA. However, scientists from the University of Chicago have discovered that mRNA expression levels, long considered a barometer for differences in gene regulation, often do not reflect differences in protein expressionand, therefore, biological functionbetween humans and chimpanzees. The work was published Oct. 17 in Science.

"We thought that we knew how to identify patterns of mRNA expression level differences between humans and chimpanzees that would be good candidates to be of functional importance," said Yoav Gilad, PhD, Professor of Human Genetics at the University of Chicago. "Now we see that even such mRNA patterns are not translated to the protein level. Which means that it is unlikely that they can affect a functional phenotypic difference."

For genes to be expressed, DNA must be transcribed into messenger RNA (mRNA), which then code for proteins, the biological building blocks and engines that drive cellular function. Although humans and chimpanzees share highly similar genomes, previous studies have shown that the species evolved major differences in mRNA expression levels. Many of these differences were thought to indicate areas of evolutionary divergence, thus pointing to genes important for human-specific traits.

To test this, Gilad, Jonathan Pritchard, PhD, currently at Stanford University, and their team, spearheaded by postdoctoral fellow Zia Khan, PhD, used high-resolution mass spectrometry to compare the expression levels of thousands of proteins with corresponding mRNA expression data in human and chimpanzee cell lines.

The team found 815 genes with differing mRNA expression levels but only 571 genes that differed in protein expression. In total, they identified an estimated 266 genes with mRNA differences that did not lead to changes in protein levels. They found similar results in rhesus macaque cell lines when compared to both chimpanzees and humans, confirming the trend.

"Some of these patterns of mRNA regulation have previously been thought of as evidence of natural selection for important genes in humans, but this can no longer be assumed," Gilad said.

The study raises questions over why mRNA expression levels differ between species if they do not necessarily cause protein differences. Although further study is needed, Gilad believes this study suggests that protein expression levels evolve under greater evolutionary constraint than mRNA levels, via a yet-uncharacterized compensation or buffering mechanism.

For now, research that uses mRNA expression levels as a measure of the functional importance of a gene requires reassessment, and not just in studies on evolution.

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Gene regulation differences between humans and chimpanzees more complex than thought

Public release date: 17-Oct-2013 [ | E-mail | Share ]

Contact: Phil Sahm phil.sahm@hsc.utah.edu 801-581-2517 University of Utah Health Sciences

(SALT LAKE CITY)A 30-year-old woman with a history of upper respiratory infections had no idea she carried an immunodeficiency disorder until her 6-year-old son was diagnosed with the same illness.

After learning she has common variable immunodeficiency (CVID), a disorder characterized by recurrent infections, such as pneumonia, and decreased antibodies, the woman, her husband, their three children and parents joined a multidisciplinary University of Utah study and researchers identified a novel gene mutation that caused the disease in the mom and two of her children. The researchers discovered that a mutation in the NFKB2 gene impairs a protein from functioning properly, which interferes with the body's ability to make antibodies and fight infection. The children's father did not have the mutation, nor did a third sibling or the woman's parents.

Another 35 people with CVID were tested for the gene mutation, and one other unrelated person was found to have it. His father wasn't tested, but no one else in his family immediate family had the mutation, so the researchers don't know whether he could have inherited the disorder from his father or developed the gene mutation sporadically.

CVID typically doesn't present with symptoms until adulthood and it's not uncommon for someone to reach their 20s, 30s or beyond before being diagnosed, according to Karin Chen, M.D., co-first author of the study published Thursday, Oct. 17, 2013, in the American Journal of Human Genetics online. Identifying the NFKB2 mutation will make it easier to recognize and treat the disorder, particularly after a test developed in conjunction with the study by ARUP Laboratories becomes available as early as next May.

"If we can screen patients for genetic mutations, we can identify disease complications associated with that gene, start looking for them and treating them sooner," says Chen, instructor of pediatric immunology at the University's School of Medicine.

There's no cure for CVID, but it can be treated with monthly infusions of antibodies at a cost of $5,000 to $10,000 per treatment.

Identifying the gene mutation and developing the test for it took approximately two years, a fast turnaround made possible because of the multidisciplinary research that the University of Utah Health Sciences encourages and is known for doing. The study involved researchers from the U School of Medicine's Departments of Pediatrics, Pathology, Human Genetics and Program in Molecular Medicine and ARUP, which is a University-owned, nationwide testing laboratory.

Emily M. Coonrod, Ph.D., a research scientist with the ARUP Institute for Clinical and Experimental Pathology, is co-first author with Chen. Karl V. Voelkerding, M.D., also of the Institute for Clinical and Experimental Pathology and a U professor of pathology, is the senior author.

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Mutation in NFKB2 gene causes hard-to-diagnose immunodeficiency disorder CVID

WEDNESDAY, Oct. 16 (HealthDay News) -- People who carry a certain genetic mutation associated with Alzheimer's disease have double the rate of debilitating brain-tissue loss, a new study finds.

People with this mutation, known as the TREM2 gene variant, may also develop the disease three years earlier than expected, the researchers said.

"Our lab studies the rate of brain-tissue loss in elderly people, trying to discover factors that protect you as you age. We have never seen such a dramatic effect as with this genetic variant," study lead author Paul Thompson, a professor of neurology at the University of Southern California, said in a news release.

"If you carry this genetic mutation, we've found that there is this wildfire of tissue loss in the brain," he said.

In the study, the researchers mapped the effects of the gene mutation on the living brain using MRI scans. "This is the first study to use brain scans to show what this gene variant does, and it's very surprising," Thompson said.

The two-year study, published Oct. 17 in The New England Journal of Medicine, showed that people with the TREM2 gene variant associated with Alzheimer's lose their brain tissue much more quickly.

The research involved nearly 500 adults from North America, averaging 76 years of age. One hundred had Alzheimer's disease, 221 had some impairment in memory or thinking, and 157 were healthy.

People with the gene mutation lost 1.4 percent to 3.3 percent more of their brain tissue than those who did not carry the mutation. This more extensive brain loss, which took place primarily in areas of the brain responsible for memory, also proceeded twice as quickly in those with the mutation.

"This gene speeds up brain loss at a terrific pace," Thompson said. "Carriers of this genetic mutation, who comprise about 1 percent of the population, lose about 3 percent of their brain tissue per year. This is a silent time bomb in 1 percent of the world."

Although healthy people usually lose less than 1 percent of their brain tissue per year, this loss is offset by the creation of new normal tissue from mental stimulation. For those with Alzheimer's, however, symptoms typically appear once about 10 percent of their brain tissue has been destroyed.

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Gene Mutation May Double Rate of Brain Tissue Lost to Alzheimer's

Public release date: 17-Oct-2013 [ | E-mail | Share ]

Contact: David Cameron david_cameron@hms.harvard.edu 617-432-0441 Harvard Medical School

In two parallel projects, researchers have created new genomes inside the bacterium E. coli in ways that test the limits of genetic reprogramming and open new possibilities for increasing flexibility, productivity and safety in biotechnology.

In one project, researchers created a novel genomethe first-ever entirely genomically recoded organismby replacing all 321 instances of a specific "genetic three-letter word," called a codon, throughout the organism's entire genome with a word of supposedly identical meaning. The researchers then reintroduced a reprogramed version of the original word (with a new meaning, a new amino acid) into the bacteria, expanding the bacterium's vocabulary and allowing it to produce proteins that do not normally occur in nature.

In the second project, the researchers removed every occurrence of 13 different codons across 42 separate E. coli genes, using a different organism for each gene, and replaced them with other codons of the same function. When they were done, 24 percent of the DNA across the 42 targeted genes had been changed, yet the proteins the genes produced remained identical to those produced by the original genes.

"The first project is saying that we can take one codon, completely remove it from the genome, then successfully reassign its function," said Marc Lajoie, a Harvard Medical School graduate student in the lab of George Church. "For the second project we asked, 'OK, we've changed this one codon, how many others can we change?'"

Of the 13 codons chosen for the project, all could be changed.

"That leaves open the possibility that we could potentially replace any or all of those 13 codons throughout the entire genome," Lajoie said.

The results of these two projects appear today in Science. The work was led by Church, Robert Winthrop Professor of Genetics at Harvard Medical School and founding core faculty member at the Wyss Institute for Biologically Inspired Engineering. Farren Isaacs, assistant professor of molecular, cellular, and developmental biology at Yale School of Medicine, is co-senior author on the first study.

Toward safer, more productive, more versatile biotech

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Researchers advance toward engineering 'wildly new genome'

Public release date: 17-Oct-2013 [ | E-mail | Share ]

Contact: Kathryn Ruehle kruehle@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, October 17, 2013 -- An individual's recovery months after a traumatic brain injury (TBI) is difficult to predict, and some of the variability in outcomes may be due to genetic differences. Subtle variations in genes that regulate a person's inflammatory response to injury can impact clinical outcomes in TBI, according to a new study published in Journal of Neurotrauma, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Neurotrauma website at http://www.liebertpub.com/neu.

In the article "Cytokine Gene Polymorphisms and Outcome after Traumatic Brain Injury," (http://online.liebertpub.com/doi/full/10.1089/neu.2012.2792) Ryan Waters and coauthors from University Hospital Southampton, University of Edinburgh, University of Glasgow, School of Social and Community Medicine, Bristol, and Southampton General Hospital, UK, explore natural variations between individuals in the genes that encode cytokines. These signaling chemicals play an important role in neuroinflammation, which is a key part of the secondary response to head injury. Genetic variability in cytokine genes can impact the magnitude and duration of an individual's neuroinflammatory response to TBI, affecting long-term repair processes and recovery.

John T. Povlishock, PhD, Editor-in-Chief of Journal of Neurotrauma and Professor, VCU Neuroscience Center, Medical College of Virginia, Richmond notes, "This study analyzes a relatively large cohort of patients in whom novel genetic associations were found and correlated with outcome. These studies are considered particularly important in that they join with emerging information in the field that tumor necrosis factor alpha (TNF-alpha) expression is associated with unfavorable outcome and thus, may be a target of future studies focusing on the treatment of traumatic brain injury."

###

About the Journal

Journal of Neurotrauma is an authoritative peer-reviewed journal published 24 times per year in print and online that focuses on the latest advances in the clinical and laboratory investigation of traumatic brain and spinal cord injury. Emphasis is on the basic pathobiology of injury to the nervous system, and the papers and reviews evaluate preclinical and clinical trials targeted at improving the early management and long-term care and recovery of patients with traumatic brain injury. Journal of Neurotrauma is the official journal of the National Neurotrauma Society and the International Neurotrauma Society. Complete tables of content and a sample issue may be viewed on the Journal of Neurotrauma website at http://www.liebertpub.com/neu.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in promising areas of science and biomedical research, including Therapeutic Hypothermia and Temperature Management, Tissue Engineering, and Brain Connectivity. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 70 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website at http://www.liebertpub.com.

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Does genetic variability affect long-term response to traumatic brain injury?

Washington, Oct. 17 : Scientists have revealed that after studying 12 major types of cancer, they have discovered 127 frequently mutated genes that seem to force the development and progression of a range of tumors in the body.

The research, which was conducted at the Washington University School of Medicine in St. Louis, shows that some of the same genes commonly mutated in certain cancers also occur in seemingly unrelated tumors, for example, a gene mutated in 25 percent of leukemia cases in the study was found in tumors of the breast, rectum, head and neck, kidney, lung, ovary and uterus.

Based on the findings, the researchers envision that a single test that surveys errors in a swath of cancer genes eventually could become part of the standard diagnostic workup for most cancers.

The new research analyzed the genes from 3,281 tumors - a collection of cancers of the breast, uterus, head and neck, colon and rectum, bladder, kidney, ovary, lung, brain and blood.

In addition to finding common links among genes in different cancers, the researchers also identified a number of mutations exclusive to particular cancer types.

These genetic errors occur frequently in some cancers and rarely in others but are nevertheless thought to be important to cancer growth.

While the average number of mutated genes in tumors varied among the cancer types, most tumors had only two to six mutations in genes that drive cancer. This may be one reason why cancer is so common, the researchers said.

Results of such testing could guide treatment decisions for patients based on the unique genetic signatures of their tumors.

The discovery also sets the stage for devising new diagnostic tools and more personalized cancer treatments.

The research is published in the journal Nature.

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Genetic errors in 12 major types of cancer identified

October 17, 2013

Brett Smith for redOrbit.com Your Universe Online

Commonly referred to as blood poisoning, sepsis is a deadly condition caused by the bodys inflammatory reaction to a bacterial infection that often results in tissue and organ damage.

Now, preliminary studies at Kings College London indicate that a simple genetic test can diagnose the condition in two hours instead of the two days required for a traditional diagnosis, according to a new study in the open access journal PLOS ONE.

Sepsis is a hidden killer, causing nearly a third of all hospital deaths. Rapid antibiotic treatment for the condition is vital every minute counts, said study author Graham Lord, a professor of medicine at Kings College London. Yet current diagnostic methods can take up to two days, so an accurate diagnostic test that can be carried out at the patients bedside is urgently needed.

To find a biomarker for sepsis, the international team of researchers looked at bits of genetic material known as microRNAs, which encode and regulate DNA particularly with respect to an immune response. The study scientists took blood samples from three groups of patients at two hospitals in the UK and Sweden: those with sepsis, patients with a similar condition called Systemic Inflammatory Response Syndrome (SIRS), and healthy patients.

Genetic material from the blood samples was amplified to determine which microRNAs were more prevalent as a result of sepsis. According to their report, the team was able to find a group of microRNAs that were more active in the sepsis patients, denoting a potential biomarker for the condition.

We have for the first time identified a group of biomarkers in the blood that are good indicators of sepsis, Lord said. We have shown that it is possible to detect these markers by screening a patients blood in the ward, a process which can deliver results within two hours. This is an extremely exciting development which has the potential to completely transform the management of this severe disease and save thousands of lives worldwide every year.

These are promising early findings, and now we need to test this approach in a large clinical trial, he added.

The researchers noted that sepsis appears similar to SIRS, but only sepsis responds to treatment with antibiotics. This distinction makes it vital for clinicians to be able to differentiate the two conditions as using antibiotics in non-sepsis cases can be both ineffective and potentially add to the development of antibiotic resistant bacteria.

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New Genetic Blood Test Diagnoses Sepsis In Hours, Not Days

Minecraft Advanced Genetics Mod 1.6.4 forge
Este mod te permite tener habilidades de otros mobs del juego. Link Del Mod: http://www.minecraftforum.net/topic/1988826-164-forge-advanced-genetics-mod/ Lin...

By: DrCreeper

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Minecraft Advanced Genetics Mod 1.6.4 forge - Video

Seedlings Started Reserva Privada Genetics #1
Starting the grow with Reserva Privada genetics Glass Slipper and Citrix. These are grown from feminized seeds. I also discuss picking the right phenotypes.

By: TheDudegrows

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Seedlings Started Reserva Privada Genetics #1 - Video

Beef and Lamb New Zealand wants to combine its genetics investments into one entity so it can use science to help farmers cope with new challenges such as growing productive animals on hill country. Photo by Ruth Grundy.

Industry-good organisation Beef and Lamb New Zealand is holding a series of meetings this month to get levy-payers' support, before a referendum it will hold next month on its proposal to combine its genetic research and development services into one entity.

It wants to combine Sheep Improvement Limited (SIL), its Central Progeny Test (CPT) and Ovita into Beef and Lamb New Zealand Genetics, with support from the Government.

It promises to make an additional investment in beef genetics to support systems used by New Zealand bull breeders.

Beef and Lamb Genetics manager Mark Young said it wanted to set the direction for its breeding industry for the next 20 years. There were several key considerations behind its proposal and the meetings were to ''begin the debate'' of ''where we should be going'', Dr Young said.

One challenge already identified by farmers was that competition for land was pushing sheep and beef finishing into harder country, so there was a need to look at breeding objectives and to determine which genetics suited which environments, he said.

''Some traits which we have been selecting for, for beef and lamb improvement, are near their optimum now - like fatness of meat.''

There were other beneficial traits which could be brought into breeding programmes, such as animal longevity, eating qualities and storage life, which would increase profitability, he said.

And there was potential to exploit the new opportunities the rapidly changing DNA technology offered.

Another outcome sought by Beef and Lamb was to make it easier for farmers to use the genetic information produced.

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Chance for say on genetics

CAMBRIDGE, Mass.--(BUSINESS WIRE)--

Good Start Genetics, Inc.,an innovative molecular diagnostics company harnessing a powerful, proprietary next-generation DNA sequencing (NGS) capability, today announced that new data further exemplifying the clinical value of the GoodStart SelectTM carrier screening test were presented this week at the at the 2013 American Society for Reproductive Medicine (ASRM) Annual Meeting being held in conjunction with the International Federation of Fertility Societies (IFFS). The data demonstrate that 8.4% of carriers of genetic diseases would have been missed using other available technologies.

Accurate carrier screening provides couples with the personalized genetic information needed to best understand the risks of conceiving a child with a debilitating or fatal inherited disease prior to becoming pregnant, stated Don Hardison, president and chief executive officer of Good Start Genetics. Our goal is to deliver the premier solution for genetic screening in reproductive medicine, and be the preferred partner for the development of clinically relevant and commercially viable NGS-based diagnostics in reproductive medicine and beyond. These data further reinforce the differentiated accuracy and clinical relevance our product brings to the carrier screening market and to couples seeking to make informed decisions prior to undertaking the financial and emotional investment of in-vitro fertilization.

Enhanced Detection through Next Generation Sequencing

In a poster presentation titled, Carrier Screening Of 16,500 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Mutations Across Society-Recommended Diseases, data demonstrate that Good Start Genetics NGS platform detected significantly more mutations than common screening assays, specifically 39% of distinct disease causing mutations detected by NGS would have been missed with traditional screening. In a clinical setting (in vitro fertilization (IVF) centers across the US), evaluating 16,481 patients, 771 pathogenic mutations among 15 genes were detected. Had traditional screening assays been used, 8.4% (95% CI: 6.6-10.6) of all carriers identified across these diseases would have been missed. Excluding cystic fibrosis (a well-characterized disease), 19.4% (95% CI: 14.7-24.7) of carriers would have been missed, vastly increasing the risk of a reproductive couple conceiving a child with a debilitating or fatal genetic disorder. The data were presented in program number P048.

Validation of Disease-Causing Mutations

In a second poster presentation, A Rigorous Process for Selecting an Optimal Mutation Set for Population-Based Carrier Screening, the authors describe the identification, pathogenic confirmation and curation of known human genetic mutations that cause genetic disorders recommended for screening by leading medical societies. Through a clinically-focused review of more than 1,000 publications and annotation of more than 2,700 variants, the researchers built and validated a comprehensive yet highly specific set of 975 mutations for 15 genes, with the clinical goal of increased carrier detection rates and avoidance of variants of unknown significance. The data were presented in program number P018.

ASRM is a multidisciplinary organization dedicated to the advancement of the art, science and practice of reproductive medicine. The 2013 ASRM Annual Meeting is dedicated to transforming reproductive medicine worldwide and is attended by global thought-leaders and practitioners from the reproductive health community, including reproductive endocrinologists, embryologists and allied health professionals.

IFFS represents most of the worlds scientific and clinical societies working with IVF, and assisted reproduction generally. Founded in 1951, the mission of IFFS is to stimulate basic and clinical research, disseminate education and encourage superior clinical care of patients in infertility and reproductive medicine worldwide.

About GoodStart Select

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New Data Show That ~10% of Carriers Good Start Genetics Detects Are Missed by Conventional Screening Tools

Newswise AveXis and BioLife, synthetic biology platform companies, today announced that The Research Institute at Nationwide Childrens Hospital received Fast Track designation from the U.S. Food and Drug Administration for its scAAV9.CB.SMN gene therapy product for the treatment of spinal muscular atrophy (SMA). This new gene therapy product created by scientists at The Research Institute was granted Fast Track status after demonstrating preliminary effectiveness in mouse models of SMA, potentially addressing this unmet medical need.

"Fast track," an important hastened phase in the nation's drug review and approval process, signifies that the FDA can expedite the review and development of the scAAV9.CB.SMN gene therapy product which, in preclinical work, has shown to slow the progression of SMA symptoms.

SMA is the most common genetic cause of infant death. SMA is an autosomal recessive disease caused by a genetic defect in the SMN1 gene that encodes for the SMN protein. SMA manifests in various degrees of severity which all have in common general muscle wasting and mobility impairment.

The scAAV9.CB.SMN gene therapy product currently being developed by The Research Institute, received an IND approval in September 2013 to initiate Phase I clinical testing in SMA Type 1patients.The clinical trial is sponsored by The Sophias Cure Foundation and AveXis/BioLife.

Todays notice of Fast Track designation is welcomed news. This demonstrates to the families afflicted with SMA, the FDAs regulatory priority for addressing this orphan disease, said Chief Executive Officer John A. Carbona.

About Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is an autosomal-recessive genetic disorder characterized by progressive weakness of the lower motor neurons. SMA is caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons. SMA kills more infants than any other genetic disease in today's world.

About Nationwide Childrens Hospital Ranked in all 10 specialties in U.S. News & World Reports 2013-2014 Best Childrens Hospitals and among the Top 10 on Parents magazines 2013 Best Childrens Hospitals lists, Nationwide Childrens Hospital is one of the nations largest not-for-profit freestanding pediatric healthcare networks providing care for infants, children, adolescents and adult patients with congenital disease. As home to the Department of Pediatrics of The Ohio State University College of Medicine, Nationwide Childrens Hospital faculty train the next generation of pediatricians, scientists and pediatric specialists. The Research Institute at Nationwide Childrens Hospital is one of the top 10 National Institutes of Health-funded free-standing pediatric research facilities in the U.S., supporting basic, clinical, translational and health services research at Nationwide Childrens Hospital.

About AveXis, Inc. Based in Dallas, Texas, AveXis is a synthetic biology platform company establishing unique industry alliances to create innovative treatments for people with unmet medical needs. Spinal muscular atrophy (SMA) is the companys first focus.

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AveXis and BioLife Announce The Research Institute at Nationwide Children's Hospital Received Fast Track Status for ...

Using a sponge to secure stability and relieve back pain. Its no ordinary sponge it stays in the body after surgery. Come with us into the OR and see it in action.

It doesnt look like much, but this tiny lattice work called Osteosponge has powerful potential. Its a bone graft taken from a donor cadaver and treated so its safe for transplant, yet its living stem cells have been preserved.

Dr. Daniel Laich, Swedish Covenant Hospital Neurosurgeon: There are cells within that that help bone grow, that help bony defects grow together. We are so amazingly made that our body can recognize the structure and say, Wow, this is bone. I have to grow it, or This is incomplete bone. I have to fill it in. Its just opened up another reason for bone donation, for organ donation, bone being one of those because we can do so much with it now.

On the day we visited Swedish Covenant Hospital neurosurgeon Dr..Daniel Laich, he was performing a cervical fusion removing a damaged disc and rebuilding the bony structure in a patients spine.

Dr. Daniel Laich: If that disc has degenerated or herniated or collapsed down, we take it out, we put in a device to replace it to maintain this curve and this curve.

But first, its injected with the patients own blood another bone-growing boost.

Dr. Daniel Laich: If I stick a needle in a bone marrow spot in the patient and draw out some of those cells, the patients own stem cells, I inject that into the matrix, the bone graft, and that will lead to a faster fusion, faster growth. The device goes in and that bone product goes right in that device.

Dr. Daniel Laich: The device goes in and that bone product goes right in that device. On x-rays youll see the device and black and over time youll see that turn white it will look from one piece of bone all the way to another. It will allow the symmetry or balance of the body to be re-established quicker, and that will lead to a quicker recovery and a long-term goal without pain.

In addition to use for back problems, the Osteosponge can be used after traumatic brain injuries or stroke to help rebuild bone in the skull and for facial bone reconstruction after an accident.

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Back pain? A special sponge could help

Dr. K. Krishnaiah talks about Stem Cell therapy to TV7
Mediciti Hospitals is bringing to India a novel stem-cell based technique for "cartilage regeneration" which can replace knee replacement procedures. Our chi...

By: Mediciti Hospitals

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Dr. K. Krishnaiah talks about Stem Cell therapy to TV7 - Video

Purtier Placenta Live Stem Cell Therapy Miracle - Mr Lee Kay Hoy - Osteoporosis, Sensitive Nose
Purtier Placenta Live Stem Cell Therapy Miracle - Mr Lee Kay Hoy - Osteoporosis, Sensitive Nose For more information please email us with your contact number...

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Purtier Placenta Live Stem Cell Therapy Miracle - Mr Lee Kay Hoy - Osteoporosis, Sensitive Nose - Video

WASHINGTON: A rare genetic mutation associated with Alzheimer's disease has been found to accelerate the loss of brain tissue and lead to quicker mental decline, researchers said Wednesday.

People with the TREM2 gene variant lost brain tissue twice as fast as healthy elderly people, according to research published in the New England Journal of Medicine.

"This is the first study to use brain scans to show what this gene variant does, and it's very surprising," said co-author Paul Thompson of the University of Southern California.

"This gene speeds up brain loss at a terrific pace."

Thompson and colleagues did magnetic resonance imaging (MRI) scans on 478 adults, whose average age was 76, over the course of two years.

They found that mutation carriers lost 1.4 per cent to 3.3 per cent more of their brain tissue than non-carriers, and the deterioration happened twice as fast.

Brain tissue loss was concentrated in memory centers of the brain, including the temporal lobe and hippocampus.

The TREM2 variant was first described in January as rare mutation, existing in about one percent of the North American and European population, that could triple a person's lifetime risk of Alzheimer's disease.

Subsequent study has confirmed the mutation's link to Alzheimer's in blacks as well.

The genetic mutation has also been linked to an increased likelihood of Parkinson's disease and a rare form of early brain decline called Nasu-Hakola disease.

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Gene mutation speeds up brain decline in Alzheimer's

SLIP, SLOP, SLAP: New research shows there are now even more reasons to wear sunscreen.

Sunscreen not only prevents sunburn but protects a "superhero gene" that fights all three forms of skin cancer, Australian researchers have discovered.

Researchers at the Queensland University of Technology have conducted a "world-first" human study examining the impact of sunscreen at the molecular level.

They have found that sunscreen not only provides 100 per cent protection against sunburn, but also shields the important p53 gene, which works to prevent all three forms of skin cancer - BCC (basal cell carcinoma), SCC (squamous cell carcinoma) and malignant melanoma.

Lead researcher Dr Elke Hacker said the study found repeated sunburn could damage the p53 gene, preventing it from doing its life-saving work.

"As soon as our skin becomes sun damaged, the p53 gene goes to work repairing that damage and thereby preventing skin cancer occurring," Hacker said.

"But over time if skin is burnt regularly the p53 gene mutates and can no longer do the job it was intended for - it no longer repairs sun damaged skin and without this protection skin cancers are far more likely to occur."

Fifty-seven people who participated in the study underwent a series of skin biopsies to determine how UV exposure affected molecular changes in their skin.

Two skin spots on each particpant were exposed to a mild dose of UV light, but sunscreen was applied to only one spot.

Researches tested the two skin spots after 24 hours and found that where sunscreen had been applied there were no DNA changes and no damage to the p53 gene.

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Sunscreen protects cancer-fighting gene