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

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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

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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'

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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?

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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

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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

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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...

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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

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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

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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

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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 ...

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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

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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...

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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

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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

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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

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NEW YORK, NY--(Marketwired - October 16, 2013) - The Breast Cancer Research Foundation (BCRF) today announced its dedication of $45 million to breast cancer research at its annual Symposium and Awards Luncheon yesterday. The 2013-2014 grants, awarded to 207 doctors and scientists, build on the foundation's 20-year commitment to advance the world's most innovative research and address such critical areas as genetics, immunotherapy, tumor biology, quality of life and metastasis.

BCRF Scientific Director Dr. Larry Norton and Dr. Clifford Hudis, Chairman of BCRF's Scientific Advisory Board and President of the American Society of Clinical Oncology, moderated the Symposium, titled "You Are Living in the Renaissance of Medical Science." The two doctors were joined by BCRF researchers Robert Vonderheide, MD, D.Phil (University of Pennsylvania Abramson Cancer Center), Nancy Davidson, MD (University of Pittsburgh Cancer Institute) and Titia de Lange, PhD (The Rockefeller University), who discussed a number of topics including the genetic connections between cancers andimmunotherapy as a means of vaccinating breast cancer. During the Symposium, many of the world's cancer experts who are also BCRF grantees, such as Mary-Claire King, PhD (University of Washington) and Funmi Olopade, MD, FACP (University of Chicago Medical Center), spoke openly with the audience about everything from BRCA gene mutations to obesity's role in increased breast cancer risk.

After the Symposium, more than 165 BCRF researchers joined 1,000-plus guests for the Awards Luncheon, which honored their work and paid tribute to two remarkable individuals. Longtime donor, Gail Siegal, received the Sandra Taub Humanitarian Award for her unending efforts to support lifesaving research. The Jill Rose Award for outstanding research excellence was presented to Dr. de Lange, who won the 2012 "Breakthrough Prize in Life Sciences" established by Facebook's Mark Zuckerberg and Google's Sergey Brin, among others. Dr. de Lange was recognized for her groundbreaking contributions to research on telomeres (the protective ends of chromosomes) and their relationship to aging and the spread of breast cancer.

During her acceptance speech, Dr. de Lange talked about how BCRF was instrumental in getting her to focus on breast cancer. "This award is particularly important to me because it symbolizes what BCRF has done for me and my research. I will never turn away from this problem now. I will stick with the cancer problem and continue to work hard to better understand, treat, and prevent breast cancer in the future."

In addition to the grant awards, beloved BCRF board member and prominent New York philanthropist, Cynthia Lufkin, who passed away in July, was commemorated by longtime friend, Muffy Potter Aston, and through a moving performance by rising country singer and star of Lifetime TV's Chasing Nashville, Autumn Blair.

The annual Symposium and Awards Luncheon is BCRF's premier fundraiser, bringing together the leading minds in medical science with the philanthropic community dedicated to the fight against breast cancer. This year's event, which took place at the Waldorf Astoria, raised $2.1 million.

Event co-chairmen and notable guests included William Lauder, Tory Burch, Caryn Zucker, Gigi Mortimer, Clarissa Alcock Bronfman, Dan Lufkin, Anne H. Bass, Gail Hilson, Laura Lauder, Betsy S. Green, Arlene Taub, Rebecca Amon, Marjorie Reed Gordon, Ronnie F. Heyman, Wendi Rose, Marisa Acocella Marchetto, Jeanne Siegel, Adrienne Vittadini, Libby Pataki and Roz Goldstein.

Sponsors: Bloomberg, Cond Nast, Conquer Cancer Foundation of ASCO, Hazen Polsky Foundation, Alexandra Herzan, Kinga Lampert, Polo Ralph Lauren Foundation, Rolex Watch USA, and The Henry and Marilyn Taub Foundation.

Follow @BCRFcure and join the conversation via #BCRF and #ResearchCan.

About The Breast Cancer Research Foundation Founded by Evelyn H. Lauder in 1993, The Breast Cancer Research Foundation has raised more than $450 million in the last 20 years to advance the world's most promising breast cancer research to achieveprevention and a cure in our lifetime. In October 2013, BCRF awarded $45 million to support the work of more than 200 researchers at major medical institutions across sixcontinents.By spending 91 cents of every dollar onresearch and awareness programs, BCRF remainsone of the nation'smost fiscally responsible charities.It hasearned four stars from Charity Navigator since 2002 and is the only breast cancer organizationawardedan "A+" from CharityWatch. For more information,visitwww.bcrfcure.org. To donate, go to donations.bcrfcure.org/donate-now.

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The Breast Cancer Research Foundation Announces $45 Million in Research Grants

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October 16, 2013

redOrbit Staff & Wire Reports Your Universe Online

A persons willingness to volunteer and help others could be influenced by a gene that also impacts his or her level of social anxiety, according to research published in Septembers edition of the journal Social Neuroscience.

The paper, which the authors believe is the first to describe this particular pathway, explained that prosocial behavior is related to the same gene that predisposes certain men and women to anxiety disorders. Helping those people cope with that anxiety could ultimately result in an increase in their prosocial behaviors.

Prosocial behavior is linked closely to strong social skills and is considered a marker of individuals health and well-being, said Gustavo Carlo, a professor at the University of Missouri College of Human Environmental Sciences. Social people are more likely to be healthier, excel academically, experience career success and develop deeper interpersonal relationships that may help alleviate stress.

He and fellow study author Scott Stoltenberg, a behavioral geneticist at the University of Nebraska-Lincoln, explained that the gene, officially identified as the 5-HTTLPR triallelic genotype, has an effect on the amygdala, a region of the brain that plays a role in emotional reactions such as fear. They found that people with the recessive version of the gene were more likely to take risks socially and help others.

Previous research has shown that the brains serotonin neurotransmitter system plays an important role in regulating emotions, Stoltenberg said in a statement. Our findings suggest that individual differences in social anxiety levels are influenced by this serotonin system gene and that these differences help to partially explain why some people are more likely than others to behave prosocially.

He added that this type of research helps provide insight into how biological factors can influence the way that people interact with one another. Their study builds upon previous research that found an association between prosocial behaviors and genes that help control a persons serotonin neurotransmitter system. They looked to find out whether or not anxiety was a component of the mechanism through which 5-HTTLPR impacts social behavior.

As part of the study, nearly 400 undergraduate students took part in a computerized survey designed to gauge both their anxiety levels and their proclivity towards prosocial behavior. Cheek swabs for genetic testing were also provided to Carlo, Stoltenberg and their colleagues.

Since their research further links prosocial behavior to genetically-caused anxiety, the investigators suggest that helping nervous men and women deal with their anxiety through counseling, medication, and other targeted efforts could also make them more likely to engage in prosocial behaviors, like volunteering for charitable organizations.

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Genetic Link Found Between Anxiety And Prosocial Behavior

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How to Save Coral Reefs from Climate Change: Genetic Manipulation

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A UC San Francisco-led team of scientists has discovered that a gene mutation found in some bladder cancers is indicative of low-risk tumors that are unlikely to recur or progress after surgery.

The finding could help doctors spare many patients from uncomfortable, expensive follow-up tests.

David Solomon, MD, PhD

The study, reported online in the journal Nature Genetics on Oct. 13 offers a glimpse into the potential of precision medicine, which aims to use genetic information to make an accurate analysis of an individuals disease and target it with precise therapy.

The fifth most common malignancy in the U.S., bladder cancers claim about 15,000 lives each year.

A majority of bladder cancers known as papillary tumors can be successfully treated with surgery, but about 20 percent recur and invade the muscle wall of the bladder or spread to nearby organs andlymph nodes. Thus far, physicians have not had an accurate method to determine which papillary tumors are potentially lethal, so most patients undergo frequent endoscopic examinations of their bladder using a technique known as cystoscopy to look for signs of recurrence.

In 2011, while at Georgetown University School of Medicine, David A. Solomon, MD, PhD, his mentor Todd Waldman, MD, PhD, and colleagues published research in Science showing that mutations that deactivate a gene called STAG2 which regulates the separation of duplicate chromosomes during cell division are present in a range of human cancers.

In the top image, STAG2 is expressed in a robust and orderly fashion in normal

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Genetic Discovery Could Help Guide Doctors’ Treatment of Bladder Cancers

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NEW YORK, Oct. 16, 2013 /PRNewswire-iReach/ -- NEW YORK, NY (October 16, 2013) Reproductive Medicine Associates of New York (RMA of New York), a Manhattan-based infertility clinic, in conjunction with Celmatix Inc., a New York City-based biotech firm, announced today their significant research progress toward the identification of novel genetic markers that may aid in the understanding of unexplained female infertility. The findings from their study, "Whole Genome Sequencing for Female Infertility Biomarker Discovery," were presented in a poster session at the 2013 annual meeting of the American Society for Reproductive Medicine (ASRM), taking place October 12th through the 17th in Boston, Massachusetts.

"Given recent advances in fertility preservation technologies such as egg freezing, there is great value in discovering biomarkers to identify women who are at risk for infertility," said Alan Copperman, MD, a study co-author and founding partner of RMA of New York. "Ultimately, personalized genetic markers like those identified in this study will give physicians the ability to rapidly diagnose female infertility, streamline fertility treatments, and better and more efficiently help patients achieve reproductive success."

RMA of New York and Celmatix have partnered to discover genetic biomarkers that could be predictive of infertility and to make better use of the clinical data that is gathered through various trials and research. Focusing on the 'FertilomeTMDNA', the region of the human genome that Celmatix analyses have shown is most likely to encode a woman's fertility potential, the researchers identified potential biomarkers for idiopathic (unexplained) female infertility and premature decline in ovarian reserve and function.

"As additional areas of medicine move toward precise treatment recommendations based on a patient's unique genetic make up, we are excited to be partnered with Dr. Copperman and his colleagues at RMA of New York to make this dream a reality for women suffering from infertility," states Piraye Yurttas Beim, Ph.D., Founder and Chief Executive Officer of Celmatix. "To our knowledge, these are the first whole genome datasets that have been generated of women experiencing unexplained infertility and primary ovarian insufficiency."

More than seven million women in the United States are affected by infertility. Of these women, over 10 percent have infertility of indeterminate causes. Diagnostic assays based on genomic sequencing will assist physicians in the identification of previously unexplained causes of infertility and in the determination of viable candidates for egg donation, aiding individuals and couples in the family planning process.

The authors of the study were Piraye Yurttas Beim, Ph.D.; Tina Hu-Seliger, Ph.D.; Michael Elashoff, Ph.D.; Rebecca Chodroff, Ph.D.; Joseph Lee, B.A.; and Alan B. Copperman, M.D.

About Reproductive Medicine Associates of New York

Reproductive Medicine Associates of New York (RMA of New York) is widely recognized as a national and international leader in state-of-the-art reproductive medicine. Led by an integrated team of doctors and scientists with extensive reproductive endocrinology, fertility and urology experience and training, RMA of New York consistently reports IVF success rates to the Society for Assisted Reproductive Technology (SART) and the Center for Disease Control and Prevention (CDC) and is internationally recognized for achieving high success rates in the treatment of infertility. RMA of New York maximizes access to care by helping patients explore all insurance coverage and financing options available for treatment. RMA of New York is sensitive to the needs of the LGBT community, women choosing single or same-sex motherhood, as well as women interested in elective fertility preservation. Headquartered in midtown Manhattan, RMA of New York has patient care facilities in Garden City, White Plains, Brooklyn and Cornwall, NY. For more information, please visitwww.rmany.com.

About Celmatix Inc.

Founded in 2009, Celmatix is a New York City-based biotechnology company focused on helping women overcome infertility by identifying underlying genetic causes for the condition and developing tools and technologies to help optimize treatment outcomes. Celmatix has identified the regions of the human genome that are most likely to influence a woman's fertility potential and are now mining novel genetic biomarkers for different infertility disorders in these regions. Celmatix has also developed the first data analytic models that can predict the cumulative probability of success across the entire fertility treatment journey for a given couple. For more information, visit http://www.celmatix.com.

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Reproductive Medicine Associates of New York and Celmatix Announce Significant Research Strides Toward Identifying ...

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Oct. 16, 2013 Examining 12 major types of cancer, scientists at Washington University School of Medicine in St. Louis have identified 127 repeatedly mutated genes that appear to drive the development and progression of a range of tumors in the body. The discovery sets the stage for devising new diagnostic tools and more personalized cancer treatments.

The research, published Oct. 17 in Nature, 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 also 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. Results of such testing could guide treatment decisions for patients based on the unique genetic signatures of their tumors.

New insights into cancer are possible because of advances in genome sequencing that enable scientists to analyze the DNA of cancer cells on a scale that is much faster and less expensive today than even a few years ago. While earlier genome studies typically have focused on individual tumor types, the current research is one of the first to look across many different types of cancer.

"This is just the beginning," said senior author Li Ding, PhD, of The Genome Institute at Washington University. "Many oncologists and scientists have wondered whether it's possible to come up with a complete list of cancer genes responsible for all human cancers. I think we're getting closer to that."

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.

Looking at a large number of tumors across many different cancers gives the researchers the statistical power they need to identify significantly mutated genes. These genetic errors occur frequently in some cancers and rarely in others but are nevertheless thought to be important to cancer growth. The research was conducted as part of The Cancer Genome Atlas Pan-Cancer effort, funded by the National Cancer Institute and the National Human Genome Research Institute, both at the National Institutes of Health (NIH).

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. "While cells in the body continually accumulate new mutations over the years, it only takes a few mutations in key driver genes to transform a healthy cell into a cancer cell," noted Ding.

The scientists, which included co-first authors Cyriac Kandoth, PhD, and Michael McLellan, both at Washington University, along with collaborator Benjamin Raphael, PhD, from Brown University, were also able to identify genes that have a significant effect on survival.

TP53, an already well-known cancer gene, occurred most commonly across the different tumor types. It was found in 42 percent of samples and routinely was associated with a poor prognosis, particularly in kidney cancer, head and neck cancer and acute myeloid leukemia.

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Genetic errors identified in 12 major cancer types

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Scientists at Washington University in St. Louis say it may someday be possible to perform a single test to screen for a wide range of cancer types.

Scientists led by Dr. Li Ding have analyzed the DNA of 3,281 tumors to find 127 repeatedly mutated genes that appear to drive the growth of a range of cancers.

Thanks to recent advances in genome sequencing that allow scientists to analyze DNA faster and more affordably than ever before, researchers at Washington University School of Medicine in St. Louis say they have found that many types of cancer are driven by the same genetic mutations.

The scientists have been able to analyze 3,281 tumors to find 127 genes that repeatedly mutate in such a way as to drive the development of tumors in the body.

Previous genome studies have tended to home in on specific tumor types, but the work out of St. Louis, which appears this week in the journal Nature, is among the first to look at a wide range of what are sometimes seemingly unrelated tumor types. In fact, the thousands of tumors they analyzed included 12 major cancers: of the breast, uterus, bladder, kidney, ovary, lung, brain, blood, head and neck, and colon and rectum.

"This is just the beginning," senior author Li Ding of the university's Genome Institute said in a school news release of her team's findings. "Many oncologists and scientists have wondered whether it's possible to come up with a complete list of cancer genes responsible for all human cancers. I think we're getting closer to that."

In fact, the researchers say they envision a future where it's possible to perform a single test to survey all 127 of these identified genetic errors as part of a standard diagnostic workup for most cancers. Such a test could, in turn, not only identify unique genetic signatures of tumors but open the door for highly personalized cancer treatments as well.

While the researchers found common links between genes in different cancers (for instance, one gene mutated in 25 percent of leukemia cases was also found in seven other tumor types), they also found mutations that are particular to one.

To add to the complexity, some of the 127 genetic errors occur frequently in certain cancers, while some appear rarely in others, but all are being considered an important part of the growth of the cancers. The researchers did find, however, that most tumors had only two to six genetic mutations. Ding said that because cells are constantly accumulating new mutations over time, the finding that only a couple of mutations are key to turning a healthy cell into a cancerous one could help explain why cancer is so common.

The DNA analysis also helped the researchers identify genes that correlate strongly with not only cancer types but actual prognosis. TP53, for instance, was found more than any other across the different tumor types -- in 42 percent of the samples -- and is particularly bad news in cancers of the kidney, head and neck, and acute myeloid leukemia. BAP1, too, was often linked with poor prognoses, especially in kidney and uterine cancers.

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DNA analysis uncovers genetic errors behind 12 major cancers

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16 October 2013 Last updated at 09:34 ET

An 11.5m centre that will research personalised treatment for the chronically ill is to be established in Altnagelvin Hospital in Londonderry.

It is the first of its kind on the island of Ireland.

The centre, which will research heart disease, diabetes and cancer, was announced on Wednesday.

The facility will be a collaborative project between the University of Ulster and the Western Health and Social Care Trust.

Personalised medicine is an emerging practice, according to the University of Ulster, that examines genetic make-up along with clinical data.

Rapid growth in the prevalence of chronic disease, particularly in our elderly, has highlighted the need for a personalised approach to treatment

The aim of the research is to prevent, diagnose and treat disease at an individual patient level.

Professor Tony Bjourson, head of the new centre, said: "A personalised approach to patient care holds huge potential for developing new diagnostic and treatment pathways for human diseases.

"This is one of the most important concepts to emerge from the sequencing of the human genome and Northern Ireland is emerging as an important region within stratified medicine research."

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Personalised medicine centre set up

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PART 2 - SOUR SECRET - DNA Genetics - Voyagers Coffeeshop - Amsterdam Weed Review
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PART 2 - SOUR SECRET - DNA Genetics - Voyagers Coffeeshop - Amsterdam Weed Review - Video

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