Research Experience for Undergraduates 2012, Schnable Lab, ISU
A group of young people who are interested in plant genetics and genomics joined the Schnable Lab at Iowa State University in 2012 for a summer internship. They learned by working in the lab, in the field and visiting places.

By: An-Ping Hsia

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Research Experience for Undergraduates 2012, Schnable Lab, ISU - Video

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Genetics Study Guide Review
This video walks through parts of the study guide due before our exam on Genetics.

By: David Herbst

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Genetics Study Guide Review - Video

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PrimalBurn Exercise - Paleo Burn System
The #1 Worst Food For Weight Gain Revealed. "Click " goo.gl Paleo Burn System - PrimalBurn Exercise Obesity is a condition that is the result of excessive body fat accumulation. It is most often caused by overeating combined with little or no physical activity. It can also be the result of genetics, medications or other disorders. Obesity is determined by the body mass index, or BMI. BMI is calculated by dividing weight by the number of inches in height squared. This figure is multiplied by 703 to get the percentage of body fat. In most cases a BMI of over 30 percent is considered obese for an average adult. Unfortunately, obesity has become extremely common in the United States, where over 37 percent of adults have this condition. The consequences of this epidemic are very serious for many reasons. Obesity greatly increases the chances of a long list of health problems and, depending on the disease, can even result in death. Obesity commonly increases the risk of heart disease and type 2 diabetes, two very serious medical conditions. In addition, obesity can cause sleep apnea, a condition that obstructs the airway during sleep. Asthma, osteoarthritis and cancer are among other conditions that have been linked to obesity. Such serious health problems place a burden on the patient as well as family and friends. Among the many other serious problems due to obesity include its high financial costs. Hospitalization, medication, missed days from work and other issues stemming ...

By: thanawut kappako

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PrimalBurn Exercise - Paleo Burn System - Video

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Mazda Takeri Concept ENGLISH VERSION
The Mazda Takeri Concept is a sedan that was presented for the first time in the Motorshow of Tokio at the end of 2011. It is other of the concept that keeps with the new esthetics of the "Kodo" design, modern and breaking, that in first place the genetics of the future models of the brand of Hirosima.

By: DistritoMotor

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Mazda Takeri Concept ENGLISH VERSION - Video

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Poor Genetics You Can #39;t Lose Weight?
#39;Like #39; facebook.com Do your poor genetics mean you can #39;t lose weight or build muscle in the gym? Fitness trainer Russ Howe PTI gives his verdict on why so many fitness enthusiasts are too quick to show the genetics card in this argument. Russ trains a wide variety of people in the gym with a broad set of physical goals to achieve, and has known many people to literally hold themselves back by believing their genetic code is preventing them from building the type of body the want to achieve. Genetics are often discussed in bodybuilding circles because once an athlete in any sport reaches the pinnacle, it can become a battle of who simply has the better genetics. For most people, however, genetics are simply not a serious issue. They don #39;t become a reason for anything until you #39;re pushing towards your own genetic ceiling, by which time you #39;d already be in fantastic shape and probably wouldn #39;t be too concerned about it anyway. No, you are not genetically programmed to be fat. Nor are you genetically designed to have no muscle. Stop believing in myths which were started up by people who simply lacked the desire to push themselves hard in the gym. More no nonsense, common sense training and nutritional advice simply log on to the official Russ Howe PTI blog at http://www.RussHowePTI.com Gym wear and the top recommended supplements are now also provided on site.

By: RussHowePTI

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Poor Genetics You Can't Lose Weight? - Video

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Dr. Eric Genden on Thyroid Cancer and Genetics
Mount Sinai #39;s Dr. Eric Genden addresses issues relatiing to genes and thyroid cancer, now and in the future.

By: MountSinaiNY

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Dr. Eric Genden on Thyroid Cancer and Genetics - Video

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Hopi Hoekstra (Harvard University) Part 3: Genetics of Behavior
The Genetic Basis of Evolutionary Change in Morphology and Behavior Overview In Part 1, Hoekstra explains that her lab is working to understand how changes in an organism #39;s DNA result in adaptations that allow the organism to better survive or reproduce in the wild. She uses wild mice in the genus Peromyscus (commonly referred to as deer mice) as a model system because they are found in large numbers in many different habitats, allowing for many examples of adaptation to local environments, and they also thrive in a lab environment. In Part 2, Hoekstra explains how members of her lab studied the effects of a phenotypic adaptation, in this case coat color, on the ability of mouse populations to survive in different habitats. By crossing mice with light and dark coats and analyzing the genomes of the offspring, Hoekstra and her colleagues were able to identify several genes, and specific mutations in those genes, that determine coat color. Amazingly, one of the same mutations may have determined coat color in ancient mammoths! The link between genes and behavior is the focus of Hoekstra #39;s third talk. By studying burrowing behavior in two species of mice, both in the lab and in the wild, Hoekstra showed that burrowing is not strictly a learned behavior and is, in fact, controlled by a small number of genes. Biography After a short stint studying political science in college, Hopi Hoekstra switched her focus to biology. She received her BA in Integrative Biology from UC ...

By: ibioseminars

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Hopi Hoekstra (Harvard University) Part 3: Genetics of Behavior - Video

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Hopi Hoekstra (Harvard University) Part 2: Genetics of Morphology
The Genetic Basis of Evolutionary Change in Morphology and Behavior Overview In Part 1, Hoekstra explains that her lab is working to understand how changes in an organism #39;s DNA result in adaptations that allow the organism to better survive or reproduce in the wild. She uses wild mice in the genus Peromyscus (commonly referred to as deer mice) as a model system because they are found in large numbers in many different habitats, allowing for many examples of adaptation to local environments, and they also thrive in a lab environment. In Part 2, Hoekstra explains how members of her lab studied the effects of a phenotypic adaptation, in this case coat color, on the ability of mouse populations to survive in different habitats. By crossing mice with light and dark coats and analyzing the genomes of the offspring, Hoekstra and her colleagues were able to identify several genes, and specific mutations in those genes, that determine coat color. Amazingly, one of the same mutations may have determined coat color in ancient mammoths! The link between genes and behavior is the focus of Hoekstra #39;s third talk. By studying burrowing behavior in two species of mice, both in the lab and in the wild, Hoekstra showed that burrowing is not strictly a learned behavior and is, in fact, controlled by a small number of genes. Biography After a short stint studying political science in college, Hopi Hoekstra switched her focus to biology. She received her BA in Integrative Biology from UC ...

By: ibioseminars

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Hopi Hoekstra (Harvard University) Part 2: Genetics of Morphology - Video

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fightsanfilippo. Sanfilippo angels
Hundreds of children are in a life #39;s threatening condition. MPSIII or Sanfilippo Syndrome. There #39;s no cure or treatment, only HOPE. Please, help us to save their lifes. Help us finance the first American Gene Therapy clinical trial to cure Sanfilippo type A and B, and the next one, to cure Sanfilippo C

By: fightsanfilippo

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fightsanfilippo. Sanfilippo angels - Video

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New Study at the Center for Regenerative Medicine - Mayo Clinic
The Center for Regenerative Medicine at Mayo Clinic investigates what advances of stem cell biology would be useful to apply in the treatment of patients with end stage diseases. Jorge Rakela, MD, associate director for the Center, provides an overview of the Center which is also involved in a tissue engineering program with Arizona State University. Jeffery Cornella, MD, a gynecological surgeon at Mayo Clinic, and Johnny Yi, MD, a surgical fellow at Mayo Clinic, talk about a study underway to develop new tissue to aid in the treatment of vaginal prolapse and other conditions.

By: mayoclinic

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New Study at the Center for Regenerative Medicine - Mayo Clinic - Video

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SILVER SPRING, Md., Feb. 20, 2013 (GLOBE NEWSWIRE) -- Nuvilex, Inc. (NVLX), international biotechnology and clinical stage provider of natural products and cell and gene therapy solutions for the treatment of diseases, announced today its subsidiary, Medical Marijuana Sciences, Inc., is planning to develop treatments for pancreatic cancer based on cannabinoids from Cannabis sativa.

In 2006, in a publication in the prestigious scientific journal Cancer Research, cannabinoids were reported to cause the death of pancreatic cells in laboratory and animal studies; these results were also seen with human pancreatic cancer cells implanted in mice whose immune systems were suppressed. Since then, laboratory studies have shown that when gemcitabine (Gemzar(R)), the only drug approved by the FDA as a single agent for the treatment of advanced pancreatic cancer, was combined with three different cannabinoids (each used singly), the growth inhibition was more than additive for six different pancreatic cancer cell lines. When these studies were done with human pancreatic cancer cells in immunosuppressed mice, the antitumor effectiveness of gemcitabine was greatly enhanced. These results, combined with those from other studies not mentioned here, indicate the important potential for developing treatments for pancreatic cancer that include the use of cannabinoids.

Pancreatic cancer is the fourth deadliest form of cancer worldwide. In 2013, it is estimated that more than 45,000 people in the US alone will be newly diagnosed with pancreatic cancer and that more than 38,000 people will die from this disease (Cancer Facts & Figures 2013 --American Cancer Society). Pancreatic cancer is extremely hard to detect; it does not show symptoms until it is at an advanced stage and, to date, treatments have only been marginally effective. The median survival of those with advanced, inoperable, pancreatic cancer is given in terms of weeks or months, not years.

Gemzar(R) was approved on the basis that it increased median survival of patients by a mere 1.6 months over the best previously available treatment -- this illustrates dramatically the difficulty in treating this form of cancer successfully. Several drugs have been combined with gemcitabine in an effort to improve survival rates, but they have only increased survival by a few months, if at all. Accordingly, there is a great need for the development of new treatments for this devastating form of cancer.

"The development of treatments for pancreatic cancer that include cannabinoids is an obvious avenue for Nuvilex to follow because of our interest in this difficult-to-treat cancer in addition to our understanding of both the cancer biology and the drug chemistry," noted Dr. Gerald Crabtree, COO. He continued, "We are already working in the pancreatic cancer area with the Company's treatment for advanced, inoperable, disease (currently being readied for late-phase clinical trials) that involves our unique, living cell encapsulation technology. Thus, a significant portion of Nuvilex's efforts will be devoted to developing novel, effective treatments against pancreatic cancer."

About Nuvilex

Nuvilex, Inc. (NVLX) has been a provider of all-natural products for many years. The company has been expanded to increase its natural product-based footprint through medical marijuana studies. We are an international biotechnology provider of live, therapeutically valuable, encapsulated cells and services for research and medicine. New developments by our company and subsidiaries will be substantial as we have been working on many fronts to move us forward. Our company's offerings will ultimately include cancer, diabetes and other treatments using the Company's natural product knowledge, product base, cell and gene therapy expertise, and live-cell encapsulation technology in addition to other new products currently under development.

The Nuvilex, Inc. logo is available at http://www.globenewswire.com/newsroom/prs/?pkgid=13494

Safe Harbor Statement

This press release contains forward-looking statements described within the 1995 Private Securities Litigation Reform Act involving risks and uncertainties including product demand, market competition, and meeting current or future plans which may cause actual results, events, and performances, expressed or implied, to vary and/or differ from those contemplated or predicted. Investors should study and understand all risks before making an investment decision. Readers are recommended not to place undue reliance on forward-looking statements or information. Nuvilex is not obliged to publicly release revisions to any forward-looking statement, reflect events or circumstances afterward, or disclose unanticipated occurrences, except as required under applicable laws.

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Nuvilex Reports Cannabinoid-Based Pancreatic Cancer Treatments to be Developed by Its Subsidiary, Medical Marijuana ...

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Public release date: 19-Feb-2013 [ | E-mail | Share ]

Contact: Kim Polacek kim.polacek@moffitt.org 813-745-7408 H. Lee Moffitt Cancer Center & Research Institute

Researchers at the Moffitt Cancer Center have found a potential mechanism by which immune suppressive myeloid-derived suppressor cells can prevent immune response from developing in cancer. This mechanism includes silencing the tumor suppressor gene retinoblastoma 1 or Rb1. Their data explains a new regulatory mechanism by which myeloid-derived suppressor cells are expanded in cancer.

Their study appeared in a recent issue of Nature Immunology.

According to the authors, two kinds of myeloid-derived suppressor cells - monocytic M-MDSCs and granulocytic PMN-MDSCs - regulate immune responses in cancer and other conditions. In experiments with tumor-bearing mice, they discovered that M-MDSCs acquire some of the physical characteristics of PMN-MDSCs. Acquisition of the PMN-MDSCs characteristics, they found, was "mediated" by the silencing of Rb1 by modifications in a histone deacetylase 2 (HDAC-2), an enzyme decoded by the HDAC2 gene.

"Our findings demonstrate the function of a newly discovered regulatory mechanism of myeloid cells in cancer," said study lead author Dmitry I. Gabrilovich, M.D., senior member of Moffitt's Immunology Program.

According to study first author Je-In Youn, Ph.D., a post-doctoral fellow in the Gabrilovich laboratory, Rb1 is among members of the retinoblastoma family of transcription regulators that integrate multiple cellular signals to control cell proliferation and differentiation. In their experiments, the researchers found that when Rb1 was deficient in tumor-bearing mice it indicated a direct role for Rb1 in regulating M-MDSC differentiation toward PMN-MDSCs.

Their data suggested that Rb1 silencing could be initiated by HDAC-2 which, said Youn, is known to be involved in modulating the repressive activity on promoters of certain genes involved in cell differentiation.

They proposed that, in tumors, a large portion of M-MDSCs acquire the ability to differentiate into PMN-MDSCs and that it "appears that, in cancer, M-MDSCs probably acquire the ability to differentiate into PMN-MDSCs" and "may represent an important pathways for the accumulation of these cells in contrast to normal monocytes."

"We demonstrated that HDAC-2 can directly interact with Rb1 promoter and participate in silencing Rb1 expression," said study co-author Vinit Kumar, Ph.D., also a post-doctoral fellow in the Gabrilovich laboratory. He added that "silencing Rb1 expression in monocytes and other myeloid progenitors may be critical to the accumulation of PMN-MDSCs."

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Moffitt researchers say silencing of retinoblastoma gene regulates differentiation of myeloid cells

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NASHVILLE, Tenn.--(BUSINESS WIRE)--

Diagnovus, LLC, a molecular diagnostic company focused on underserved, aggressive and lesser-known diseases, today announced the launch of ENGAUGETM-cancer-DLBCL, the first commercial gene expression assay that can aid physicians in better risk stratification and treatment of patients with diffuse large B-cell lymphoma (DLBCL).

DLBCL is an aggressive tumor that can arise in virtually any part of the body. It is the most common sub-type of non-Hodgkin lymphoma, with an incidence of 7-8 cases per 100,000 people per year. Physicians currently assess a patients DLBCL risk of disease progression and outcome by using the International Prognostic Index (IPI), but more accurate classification of patients based on the underlying tumor biology is needed to allow physicians and patients to make more informed treatment decisions.

ENGAUGETM-cancer-DLBCL, which combines a patients IPI score and the results of the gene expression assay, can more accurately predict outcomes for patients than IPI alone in order to optimize treatment choices for patients, said Dr. Ron Levy, leader of the Lymphoma Program at Stanford University School of Medicine. Traditional stratification schemes based on clinical characteristics such as the IPI have provided prognostic guidance in the management of patients with DLBCL. Despite the ease of use, IPI does not fully capture disease heterogeneity, and it is common to have two patients with identical IPI risk scores have very different outcomes.

Dr. Izidore Lossos, University of Miami head of Lymphoma, said, Application of better prognostic models at diagnosis will change the treatment of DLBCL patients, leading to more effective care. Knowledge of molecular prognostic markers may identify cellular mechanisms leading to the recognition of specific molecular targets for new therapeutic approaches.

According to James Stover, Ph.D., vice president and co-founder of Diagnovus, the company is committed to bringing personalized medicine to patients afflicted with these aggressive, underserved diseases by developing assays that assist physicians in achieving better outcomes for their patients. The ENGAUGETM-cancer-DLBCL assay is the first of a comprehensive line of molecular diagnostic tests for less frequent diseases.

Using well-studied genes incorporated into a multiplexed panel, ENGAUGETM-cancer-DLBCL has been developed from more than 10 years of research and exceeds the standard clinical characteristics that clinicians have used for prognosis for the last three decades, Dr. Stover said. Even more important is the fact that we can perform this assay in a reproducible and accurate manner using routinely available formalin-fixed, paraffin-embedded (FFPE) diagnostic biopsy tissue, unlike other genome-based assays that require special handling, such as snap freezing in liquid nitrogen.

About DLBCL

Diffuse large B-cell lymphoma is a cancer of B cells, a type of white blood cell called lymphocytes responsible for producing antibodies. It occurs primarily in older individuals, with a median age at diagnosis of around 70, although in rare cases it can occur in children and young adults. The standard of care for the treatment of most cases of DLBCL is the R-CHOP regimenmulti-agent chemotherapy plus a therapeutic antibody directed against CD20, a marker of B-lymphocytes. Despite this treatment, however, DLBCL is still incurable in about 50 percent of cases.

About Diagnovus

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Diagnovus Launches First Commercial Gene Expression Assay for Patients With Diffuse Large B-Cell Lymphoma

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Feb. 18, 2013 Scientists at Queen Mary, University of London have identified a gene present in some melanoma which appears to make the tumour cells more resistant to treatment, according to research published February 19 in the Journal of Experimental Medicine.

The scientists discovered that the gene TP63 is unexpectedly expressed in some melanoma and correlates significantly with a worse prognosis. It is hoped this new understanding of what makes some melanoma cells so difficult to kill will help inform the development of new therapies.

Melanoma is a form of skin cancer which usually appears on the body as a new or changing mole. Almost 13,000 people in the UK are diagnosed with melanoma each year. While it is less common than other forms of skin cancer -- around five per cent of skin cancers are melanoma -- it results in around 75 per cent of skin cancer related deaths (more than 2000 deaths a year in the UK).

The number of cases of melanoma is rising faster than almost any other cancer and one of the main risk factors is ultraviolet light, which comes from the sun or sunbeds. While early-stage melanomas can often be removed by surgery, more advanced melanomas are much harder to treat.

Dr Daniele Bergamaschi, a senior lecturer in cutaneous research at Queen Mary said: "For most patients where the melanoma has spread beyond the skin, there are few effective treatments and overall survival rates for this disease have not changed much over the past 30 years.

"To develop better treatments we need to understand the basic biology underpinning why these cells are so resistant to being killed."

The researchers analysed 156 melanoma tissue samples from 129 individuals for expression of the protein p63 -- the protein encoded by the gene TP63. They found that p63 was expressed in more than 50 per cent of the samples (58% of primary metastatic samples, 53% of recurrent samples and 66% of metastatic samples) and correlated significantly with death from melanoma.

Dr Bergamaschi said: "We did not expect to find the TP63 gene expressed in melanoma. It is not usually found in the melanocytes (skin pigment cells), which are the cells from which melanomas develop. However, it appears in some cases this gene is turned on as the tumour forms, and when it does it is linked to a worse prognosis."

The researchers suggest that the TP63 gene, and the subsequent production of the protein p63 in some melanoma, is inhibiting the apoptotic function of the protein p53. One of the main activities mediated by p53 is apoptosis -- the process of programmed cell death and one of the main mechanisms by which cancer cells die.

Dr Bergamaschi said: "The apoptotic pathway is often not working in melanoma. However this is not explained by mutations in the TP53 gene, which encodes for the p53 protein, as evidence suggests this is mutated in less than 10 per cent of melanoma.

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Gene linked to worse outcomes for melanoma

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Project Human Genetic Engineering
Astronomy Project Human Genetic Engineering Professor Howard Daniela and Adriana Gonzalez

By: Daniela Gonzalez

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Project Human Genetic Engineering - Video

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The Wall Street Journal reports that China's BGI is sequencing around 2,200 samples of individuals with high IQ in order to identify genes associated with intelligence.

The project is sequencing the genomes of people with IQs of 160 or higher. As the WSJ notes, "the average Nobel laureate registers at around 145." These genomes will be compared with sequences from the general population in the hope of identifying genes linked to high IQ. The scientists expect to have results in three months.

BGI's Zhao Bowen, who is leading the project, acknowledges that the genetics of intelligence is a "controversial topic" in the West, but says "that's not the case in China," where the Shenzhen government is paying for half the project and BGI the other half.

Most of the samples have come from a project led by Robert Plomin, a professor of behavioral genetics at King's College, London, who has collected DNA samples from around 1,600 individuals through a US project called the Study of Mathematically Precocious Youth.

It's worth questioning whether several thousand genomes will be sufficient to identify genes associated with a complex trait like intelligence. As the article notes, citing height as an example, "attempts to find height-related genes didn't yield any reliable hits until the number of DNA samples exceeded 10,000."

However, Stephen Hsu from Michigan State University, a collaborator on the project, tells the WSJ that the fact that the scientists are studying an extreme phenotype IQs over 160 will serve as a shortcut for finding intelligence-related genes.

Most of the participants in the study are the cognitive equivalent of people "who are 6-foot-9-inches tall," Hsu says, making it relatively easy to identify IQ-related genes.

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BGI Hunts for Genetic Links to High IQ

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Public release date: 19-Feb-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, February 19, 2013A large study of nearly half a million older adults followed for about 12 years revealed a clear trend: as coffee drinking increased, the risk of death decreased. Study author Neal Freedman, PhD, MPH, National Cancer Institute, discusses the significance of these findings and the potential links between coffee drinking, caffeine consumption, and various specific causes of disease in an interview in Journal of Caffeine Research, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Caffeine Research website at http://www.liebertpub.com/jcr.

"Epidemiology of Caffeine Consumption and Association of Coffee Drinking with Total and Cause-specific Mortality" presents an in-depth interview exploring the many factors that could contribute to the association between coffee, disease, and mortality.

Dr. Freedman examines the relationship between coffee drinking and behaviors such as smoking and alcohol abuse, the physiological effects of caffeine on blood pressure and cardiac function, and the importance of differentiating between the effects of coffee and caffeine.

"Given the near-universal daily consumption of caffeine, Dr. Freedman's research underscores the urgent need for randomized controlled trials to identify which components of coffee and other caffeine beverages benefit or harm consumers, under what circumstances, and in relation to which health outcomes," says Jack E. James, PhD, Editor-in-Chief of Journal of Caffeine Research.

###

About the Journal

Journal of Caffeine Research: The International Multidisciplinary Journal of Caffeine Science is a quarterly journal published in print and online that covers the effects of caffeine on a wide range of diseases and conditions, including mood disorders, neurological disorders, cognitive performance, cardiovascular disease, and sports performance. The Journal explores all aspects of caffeine science including the biochemistry of caffeine; its actions on the human body; benefits, dangers, and contraindications; and caffeine addiction and withdrawal, across all stages of the human life span from prenatal exposure to end-of-life. Complete tables of content and a sample issue may be viewed on the Journal of Caffeine Research website at http://www.liebertpub.com/jcr.

About the Publisher

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Is there a link between coffee drinking and mortality?

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Nita Farahany and Lee Silver argue against the motion "Prohibit Genetically Engineered Babies" during an Intelligence Squared U.S. debate.

Nita Farahany and Lee Silver argue against the motion "Prohibit Genetically Engineered Babies" during an Intelligence Squared U.S. debate.

What if, before your children were born, you could make sure they had the genes to be taller or smarter? Would that tempt you, or would you find it unnerving?

What if that genetic engineering would save a child from a rare disease?

As advancements in science bring these ideas closer to reality, a group of experts faced off two against two in an Intelligence Squared U.S. debate on the proposition: "Prohibit Genetically Engineered Babies."

Before the debate, 24 percent of the audience supported the idea of prohibiting genetic engineering of babies, while 30 percent were against. Forty-six percent were undecided. After each side presented its case, 41 percent of the audience voted for the motion, "Prohibit Genetically Engineered Babies," while 49 percent sided with the experts arguing against it making them the winners of the debate.

Those debating were:

Robert Winston argues in favor of banning genetic engineering of babies.

Robert Winston argues in favor of banning genetic engineering of babies.

FOR THE MOTION

Continue reading here:
Should We Prohibit Genetically Engineered Babies?

Recommendation and review posted by Bethany Smith

REDWOOD CITY, Calif., Feb. 20, 2013 /PRNewswire/ -- Ingenuity Systems, a leading provider of biomedical information and analysis solutions, today announced that the company will complete comprehensive curation of all human phenotype-implicated mutations in the peer-reviewed biomedical literature. The comprehensive curation of hereditary, cancer and pharmacogenetic mutations will be integrated into the Ingenuity Knowledge Base and made available in Ingenuity Variant Analysis, a web-based analysis application that enables rapid identification of causal variants for human diseases from sequencing data.

"Human genome interpretation requires up-to-date, accurate and comprehensive information on populations' variant frequencies, causal network interactions, curated disease models and evidence from the biomedical literature in order to establish strong links from variants, genes and pathways to diseases and optimal treatment," said Dr. Christopher E. Mason, Assistant Professor, Weill Cornell Medical College. "Ingenuity's commitment to provide ready access to high-quality, comprehensive and structured biomedical content will enable us to achieve the next level of fast, in-depth genome interpretation that is so critical to unlocking the full potential of personalized and precision medicine."

The Ingenuity Knowledge Base is a 14 year effort to accurately, manually curate and computationally structure the biomedical literature, all human disease implicated variants and the thousands of disease models all of which are critical for the interpretation of NGS sequence data and the clinical assessment of variants observed in molecular diagnostic panels.

"This game-changing effort to richly curate and structure all published mutations has been underway for years," said Dr. Doug Bassett, Ingenuity Systems, Chief Scientific Officer and Chief Technical Officer."We are very close to completing the curation of all hereditary, pharmacogenetic and cancer mutations this year and then will maintain up-to-date coverage going forward. Millions of expert-curate findings from the biomedical literature are already available to users of Variant Analysis establishing rich relationships between and among variants, genes, protein and therapies to enable rapid identification of causal and actionable variants."

About Ingenuity Systems

Ingenuity Systems is a leading provider of biomedical information and analysis solutionsfor the exploration, interpretation and analysis of complex biological systems inlife science research and molecular diagnostics.Today, Ingenuity's solutions are used by tens of thousands of researchers and clinicians at hundreds of leading pharmaceutical, biotechnology, academic, diagnostic and clinical institutions worldwide.

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Ingenuity Systems Announces Curation of All Human Disease Implicated Genetic Variation

Recommendation and review posted by Bethany Smith

SAN CARLOS, Calif.--(BUSINESS WIRE)--

Natera, a leading innovator in reproductive and prenatal genetic testing, today announced that the companys non-invasive prenatal screening test, Panorama, will launch on March 1 for the detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and select sex chromosome abnormalities, such as monosomy X (Turners syndrome).

In clinical validation studies, Panorama demonstrated a sensitivity of greater than 99% when detecting common chromosomal abnormalities such as trisomy 21, trisomy 18 and trisomy 13; and 92% when detecting monosomy X. In addition, Panorama demonstrated a specificity of 100% with no false positives for all the syndromes tested. The test uses fetal cell-free DNA found in maternal blood and works as early as nine weeks gestation. Panoramas clinical validation data was presented live at the annual Society of Maternal Fetal Medicine Meeting on February 15, 2013.

We have spent several years refining our proprietary technology to bring the best screening test possible to expecting parents, and today we are proud to launch Panorama, said Matthew Rabinowitz, Ph.D., chief executive officer of Natera. Our teams efforts have created a very reliable, yet safe non-invasive prenatal test that screens for common fetal chromosomal diseases and will be the first to screen for sex chromosome abnormalities in every sample. We also recognize that there is more potential for this technology in new areas, and we look forward to broadly extending the full benefits of Panorama's technology

Professor Kypros Nicolaides, M.D., director of the Fetal Medicine Foundation and the Harris Birthright Research Centre for Fetal Medicine at King's College Hospital in London, added, Cell-free DNA testing has already significantly advanced the level of care for expectant mothers. In our first study completed with Natera, I was pleased that the Panorama test was able to detect chromosomal abnormalities beyond trisomies 21, 18 and 13. I expect Panoramas new technology, based on SNPs, will have a positive impact on prenatal medicine.

Panoramas technology analyzes, in a single reaction, 19,500 single nucleotide polymorphisms (SNPs), which are the most informative portions of an individuals DNA. It utilizes the NATUS [Next-generation Aneuploidy Testing Using SNPs] algorithm, an advanced version of Nateras proprietary informatics. Panorama has been validated globally and is currently being evaluated in several other clinical trials for the detection of genetic disorders, including trisomy 21, trisomy 18, trisomy 13, monosomy X, XXY, XYY, XXX and triploidy. The test uses a simple blood draw from the mother and can be performed within the first trimester of pregnancy, as early as 9 weeks, without any risk to the fetus.

About Natera

Natera is a genetic testing company that has developed a proprietary bioinformatics-based technology (NATUS) to deliver accurate and comprehensive high-throughput testing for reproductive indications from tiny quantities of DNA. Natera operates a CLIA-certified laboratory in San Carlos, Calif., providing a host of preconception and prenatal genetic testing services. Test offerings include pre-implantation genetic diagnosis to identify chromosomal anomalies or inherited genetic conditions in embryos generated during an IVF cycle; products-of-conception testing following miscarriage to rapidly and extensively analyze fetal chromosomes in order to understand the cause of the pregnancy loss; non-invasive prenatal testing to determine paternity; carrier screening tests to detect whether parents carry genetic variations that may result in disease in the child; and Panorama, a safe, simple test for pregnant women that identifies the most common chromosomal anomalies in a fetus as early as 9 weeks. Natera's PreNATUS clinical trial for non-invasive screening of fetal chromosomal anomalies is funded by the NIH and is being conducted by the leaders in maternal-fetal medicine in the United States. For more information, visit http://www.natera.com.

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Natera Launches Non-Invasive Prenatal Test PanoramaTM with Best-in-Class Sensitivity, Specificity for Detection of ...

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The specialists in private hearing healthcare, Hidden Hearing, have responded to new research which has found a way to prevent a form of deafness which runs in families.

(PRWEB UK) 19 February 2013

Usher Syndrome causes defective sections in a genetic code and causes problems with hearing, sight and balance. In many types of Ushers Syndrome, hearing loss is tied to different errors in the patients DNA. When they try to build a protein called harmonin, which is needed to form the tiny hairs in the ears that detect sound, it does not finish the job.

The study was published in Journal Nature Medicine and showed that some defects can be corrected in mice to restore some hearing. They designed a small strip of genetic material which attaches to the mutation and keeps the body building the protein. Mice with Usher Syndrome were injected with the genetic patch and grew up being able to hear and had no balance problems.

More research is needed to understand how the new therapy could be used in humans.

A spokesperson from Hidden Hearing said:

It is exciting to hear of more developments in the treatment for different types of hearing loss. Scientists have been making great progress and hopefully it wont be too long before some of these treatments are available for humans.

With more than 40 years experience in treating hearing loss, Hidden Hearing is entrusted with the care of more than 100,000 people each year. The firm has 84 hearing centres across the UK, all catering for a range of needs and budgets. Specialising in hearing tests and hearing aids, the company also offer a variety of hearing aid accessories and in 2005, became the first dedicated hearing retailer to be recognised as an Investor in People.

Vicky Moore Hidden Hearing 01622 697590 Email Information

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Hidden Hearing Respond to Research that Uses Genetic Patch to Stop Deafness

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Public release date: 18-Feb-2013 [ | E-mail | Share ]

Contact: Alison Barbuti alison.barbuti@manchester.ac.uk 44-016-127-58383 University of Manchester

Genetic medicine experts from Manchester Biomedical Research Centre at Saint Mary's Hospital and The University of Manchester have identified a new gene responsible for causing an inherited form of tumour, known as spinal meningioma. Professor Richard Marias, Director of the Paterson Institute

Meningiomas are the commonest form of tumour affecting the brain and spine. Usually meningiomas can be removed by surgery and do not recur. Occasionally people can develop more than one meningioma or many members of the same family can be affected.

A team led by Dr Miriam Smith, Professor Gareth Evans and Dr Bill Newman worked with families with a history of meningiomas affecting the spinal cord. Using a powerful new genetic sequencing technique called next generation sequencing, they were able to check all the genes of three individuals with multiple spinal meningiomas. This lead to the identification that changes in a gene called SMARCE1 lead to spinal meningiomas in some families.

In December 2012 the government announced a focus on genetic sequencing with an aim of sequencing the genomes (a person's DNA) of 100,000 Britons with cancer and rare diseases in UK centres. The voluntary sequencing of patients will lead to better testing, better drugs and above all better care for patients. Manchester is already using this technology in their well established Genetics department at Saint Mary's and it is enabling doctors to ensure patients have access to the right drugs and personalised care quicker than ever before.

In the past year 10 genes have been discovered using the new next generation sequencing technology in Manchester including genes for developmental problems, deafness, short stature and bladder problems that lead to kidney failure.

"With our new DNA sequencing machines, we have been able to show that changes in the SMARCE1 gene are responsible for multiple spinal meningioma disease," said Dr Smith. "Before our work, doctors did not know that inherited spinal meningiomas have a completely different cause to other tumours affecting the brain and spine.

"The next step is to develop a screening programme to assess the risk of developing spinal tumours for individuals in affected families, and to investigate possible treatments to prevent the spinal tumours from growing."

Professor Richard Marias, Director of Cancer Research UK's Paterson Institute at The University of Manchester, said "This research highlights the complexity of tumour diagnosis. Such detailed molecular characterisation underpins current thoughts about how meningioma and cancer will be managed in the future and is at the heart of the personalised medicine approach."

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Researchers in Manchester find genetic key to preventing spine tumors

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Stuff i got in the High Times Cup2013
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DNADayIL2013
Video about the DNA Day Illinois 2013 project, a cooperative effort between the Center for Jewish Genetics and the Illinois Department of Public Health.

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Reviews Derma Wand
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Reviews Derma Wand - Video

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