Archive for the ‘Gene Therapy Research’ Category

Public release date: 23-Aug-2013 [ | E-mail | Share ]

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

A University of Manchester professor and his wife have had their own DNA analysed for compatibility as part of the research for a new book out on 1 October in the US and next week in the UK.

Professor Daniel Davis and his wife Katie's experience is documented in The Compatibility Gene, published by Oxford University Press in the US and Penguin in the UK, which discusses how our crucial compatibility genes may influence finding a life partner as well as our health and individuality.

Professor Davis said: "We each possess a similar set of around 25,000 human genes. Some of our genes vary from person to person, like those that give us a particular eye or hair colour. But my book is about the few genes our compatibility genes that vary the most between each of us. First and foremost these are immune system genes; they control how we combat disease. But recent research shows that they may be even more important than we once thought there is evidence that they can influence how our brains are wired, how attractive we are, even how likely we are to reproduce.''

"I'm used to writing academic papers looking at particular cells and genes but I had to write this book to highlight the wonder of this new research take stock of the big picture - and make this fascinating new science accessible to everyone."

The book explains how research has radically transformed knowledge of the way our bodies work - with profound consequences for medical research and ethics. The story begins with a small band of scientific pioneers who, during the Second World War, struggled to understand the mysteries of transplants and grafts. And continues to the Swiss zoologist who had people rank the sexiness of smells from worn T-shirts - and found the results related to our compatibility genes. Very recent experiments discussed in the book show that these same genes may also influence the likelihood of problems in pregnancy.

Professor Davis, Director of Research at the University of Manchester's Collaborative Centre for Inflammation Research, said finding out more about his and his wife's genetic make-up had been a surprisingly nerve-wracking experience. The couple had their saliva sent to the Anthony Nolan Trust a UK charity that helps match transplantation donors and recipients.

"The tubes were bar- coded and shuffled down a series of robotic instruments that first isolated the DNA and then made copies of our compatibility genes," Professor Davis said. "Small beads, each having a different short piece of DNA attached, were added to a solution containing our genes. Beads with DNA just right to bind to one of our compatibility genes are picked out by a sensor, revealing which versions of these genes we have."

Professor Davis discovered his compatibility genes were quite rare, while his wife's were more common. One group of his genes were frequently found in Europe, particularly Eastern Europe, while the other set were common in India or Australia. His wife found she had a gene which would be helpful if she ever suffered an infection with HIV but which also increased her susceptibility to the auto-immune disease ankylosing spondylitis.

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Nice genes! What makes you genetically compatible with your partner?

In an unexpected finding, scientists have linked the activation of a stress gene in immune-system cells to the spread of breast cancer to other parts of the body.

Researchers say the study suggests this gene, called ATF3, may be the crucial link between stress and cancer, including the major cause of cancer death its spread, or metastasis. Previous public health studies have shown that stress is a risk factor for cancer.

Researchers already know that ATF3 is activated, or expressed, in response to stressful conditions in all types of cells. Under typical circumstances, turning on ATF3 can actually cause normal and benign cells to commit suicide if the cells decide that the stressors, such as irradiation and a lack of oxygen, have irrevocably damaged the cells.

This research suggests, however, that cancer cells somehow coax immune-system cells that have been recruited to the site of a tumor to express ATF3. Though it's still unclear how, ATF3 promotes the immune cells to act erratically and give cancer an escape route from a tumor to other areas of the body.

"It's like what Pogo said: 'We have met the enemy, and he is us,'" said Tsonwin Hai, professor of molecular and cellular biochemistry at The Ohio State University and senior author of the study. "If your body does not help cancer cells, they cannot spread as far. So really, the rest of the cells in the body help cancer cells to move, to set up shop at distant sites. And one of the unifying themes here is stress."

Hai and colleagues first linked the expression of the ATF3 gene in immune-system cells to worse outcomes among a sample of almost 300 breast-cancer patients. They followed with animal studies and found that mice lacking the ATF3 gene had less extensive metastasis of breast cancer to their lungs than did normal mice that could activate ATF3.

This stress gene could one day function as a drug target to combat cancer metastasis if additional studies bear out these results, Hai said. In the meantime, she said the results provide important insights into how cells in a tumor use their signaling power to coopt the rest of the body into aiding cancer's survival and movement to distant organs.

The research is published in the Journal of Clinical Investigation.

Hai, a member in the Ohio State University Comprehensive Cancer Center, has studied ATF3 in cancer cells for years. When she had a chance to examine human samples from about 300 breast-cancer patients, she was stunned to find that the expression of ATF3 gene in certain immune-system cells was associated with worse cancer outcomes in this group of patients. ATF3 in cancer cells showed no such association.

To test that clinical data, she and colleagues conducted two rounds of studies in mice. The researchers first injected breast cancer cells into two groups: normal mice and mice that cannot express ATF3 in any cells. The cancer in normal mice metastasized to the lungs far more rapidly and extensively than did cancer in the mice lacking ATF3. In the second round of experiments, they used genetically altered mice that could not express ATF3 in a group of immune system cells called myeloid cells, and the results were similar.

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Stress gene enables breast cancer's spread

Artificial 47th Chromosome - Genetic Engineering in Humans
Jeff Rense and Texe Marrs, August 19, 2013.

By: TheRapeOfJustice

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Artificial 47th Chromosome - Genetic Engineering in Humans - Video

Public release date: 23-Aug-2013 [ | E-mail | Share ]

Contact: Cathia Falvey cfalvey@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, August 19, 2013 Mary Ann Liebert, Inc., publishers is pleased to announce the launch of its new Chinese version website.

The Chinese version has been developed in collaboration with The Charlesworth Group, extending easy access to Mary Ann Liebert, Inc.'s more than 80 industry-leading journals. This customized platform provides a direct portal for Chinese researchers, policy makers, and industry experts to all of the publisher's cutting-edge publications.

In addition to all of the peer-reviewed content, the website includes information for authors with guidance about manuscript submission and Mary Ann Liebert, Inc.'s Open Access policies. The Chinese website provides access to Liebert Connect enabling users to personalize their email alerts while keeping up-to-date with Tables of Content, featured articles, press releases, and journal announcements. Chinese librarians can access library-specific resources and support. Furthermore, readers can share and recommend articles through the social platform Weibo Connect.

The launch of this customized website underscores Mary Ann Liebert, Inc.'s commitment to providing access to readers in China.

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About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research. 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 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

Mary Ann Liebert, Inc. 140 Huguenot St., New Rochelle, NY 10801-5215 Phone: (914) 740-2100 (800) M-LIEBERT Fax: (914) 740-2101 http://www.liebertpub.com

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Mary Ann Liebert, Inc. and The Charlesworth Group launch customized web platform

Aug. 23, 2013 In an era of widespread genetic sequencing, the ability to edit and alter an organism's DNA is a powerful way to explore the information within and how it guides biological function.

A paper from the University of Wisconsin-Madison in the August issue of the journal Genetics takes genome editing to a new level in fruit flies, demonstrating a remarkable level of fine control and, importantly, the transmission of those engineered genetic changes across generations.

Both features are key for driving the utility and spread of an approach that promises to give researchers new insights into the basic workings of biological systems, including embryonic development, nervous system function, and the understanding of human disease.

"Genome engineering allows you to change gene function in a very targeted way, so you can probe function at a level of detail" that wasn't previously possible, says Melissa Harrison, an assistant professor of biomolecular chemistry in the UW-Madison School of Medicine and Public Health and one of the three senior authors of the new study.

Disrupting individual genes has long been used as a way to study their roles in biological function and disease. The new approach, based on molecules that drive a type of bacterial immune response, provides a technical advance that allows scientists to readily engineer genetic sequences in very detailed ways, including adding or removing short bits of DNA in chosen locations, introducing specific mutations, adding trackable tags, or changing the sequences that regulate when or where a gene is active.

The approach used in the new study, called the CRISPR RNA/Cas9 system, has developed unusually fast. First reported just one year ago by scientists at the Howard Hughes Medical Institute and University of California, Berkeley, it has already been applied to most traditional biological model systems, including yeast, zebrafish, mice, the nematode C. elegans, and human cells. The Wisconsin paper was the first to describe it in fruit flies and to show that the resulting genetic changes could be passed from one generation to the next.

"There was a need in the community to have a technique that you could use to generate targeted mutations," says Jill Wildonger, a UW-Madison assistant professor of biochemistry and another senior author of the paper. "The need was there and this was the technical advance that everyone had been waiting for."

"The reason this has progressed so quickly is that many researchers -- us included -- were working on other, more complicated, approaches to do exactly the same thing when this came out," adds genetics assistant professor Kate O'Connor-Giles, the third senior author. "This is invaluable for anyone wanting to study gene function in any organism and it is also likely to be transferable to the clinical realm and gene therapy."

The CRISPR RNA/Cas9 system directs a DNA-clipping enzyme called Cas9 to snip the DNA at a targeted sequence. This cut then stimulates the cell's existing DNA repair machinery to fill in the break while integrating the desired genetic tweaks. The process can be tailored to edit down to the level of a single base pair -- the rough equivalent of changing a single letter in a document with a word processor.

The broad applicability of the system is aided by a relatively simple design that can be customized through creation of a short RNA sequence to target a specific sequence in the genome to generate the desired changes. Previous genome editing methods have relied on making custom proteins, which is costly and slow.

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Unprecedented control of genome editing in flies promises insight into human development, disease

Public release date: 23-Aug-2013 [ | E-mail | Share ]

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

New Rochelle, NY, August 15, 2013Existing urban water systems are at the end of their design lifetimes. New, innovative solutions are needed, and these must combine technology and engineering with an understanding of social systems and institutions. The current issue of Environmental Engineering Science, the Official Journal of the Association of Environmental Engineering and Science Professors, focuses on Re-inventing Urban Water Systems. Of particular note is an insightful article that presents the challenges and opportunities facing urban water system innovation, available free on the Environmental Engineering Science website.

The article, entitled "The Innovation Deficit in Urban Water: The Need for an Integrated Perspective on Institutions, Organizations, and Technology," contends that for new innovations to be implemented successfully, engineers must understand the social, economic, institutional, and political mechanisms that underlie the human-technology interface. Coauthors Michael Kiparsky, David Sedlak, Barton Thompson, and Bernhard Truffer (University of California at Berkeley School of Law; University of California at Berkeley School of Engineering; Stanford Law School and Woods Institute for the Environment, Stanford, CA; and Swiss Federal Institute of Aquatic Science and Technology, Dbendorf, Switzerland, respectively) are all members of a U.S. National Science Foundation Engineering Research Center focused on developing new approaches to urban water infrastructure - ReNUWIt (Reinventing the Nation's Urban Water Infrastructure).

"The Kiparsky paper and the EES special issue are timely and are destined to be among the most influential and important contributions to the field of environmental engineering in recent times," says Domenico Grasso, PhD, Editor-in-Chief and Provost, University of Delaware. "The holistic approaches outlined are not only well suited for addressing the complex problems of the urban infrastructure but may serve as a template for addressing many other sociotechnological challenges of the 21st century."

Guest Editors of this special issue of Environmental Engineering Science on Re-inventing Urban Water Systems, David Sedlak, Jrg Drewes, Colorado School of Mines, Golden, and Richard Luthy, Stanford University, compiled a series of articles that focus on topics including innovation in complex systems; active management of natural systems to enhance the performance of urban water infrastructure; and management of concentrates from water treatment processes.

"Our modern urban water infrastructure is one of the greatest engineering achievements of the 20th century," says Jennifer Becker, President of the Association of Environmental Engineering and Science Professors. "This important issue of EES highlights a paradigm shift in our urban water systems and that technological innovations are urgently needed if the growing demands for water and other resources are to be sustainably met."

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About the Journal

Environmental Engineering Science is an authoritative monthly, online peer-reviewed journal from Mary Ann Liebert, Inc., publishers. Publishing state-of-the-art studies of innovative solutions to problems in air, water, and land contamination and waste disposal, the Journal features applications of environmental engineering and scientific discoveries, policy issues, environmental economics, and sustainable development including climate change, complex and adaptive systems, contaminant fate and transport, environmental risk assessment and management, green technologies, industrial ecology, environmental policy, and energy and the environment.

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Can we save our urban water systems?

Public release date: 23-Aug-2013 [ | E-mail | Share ]

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

New Rochelle, NY -- With the widespread popularity of social networking sites such as Facebook, it is increasingly common for people to use interpersonal electronic surveillance to monitor the activities of current and former romantic partners. They can gather information on partners anonymously, view past and current photos and audio and video clips, and look for clues to explain any "suspicious" behaviors. Why some individuals engage in this type of behavior more than others is the subject of an article in Cyberpsychology, Behavior, and Social Networking, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Cyberpsychology, Behavior, and Social Networking website.

The article "Social Networking Sites in Romantic Relationships: Attachment, Uncertainty, and Partner Surveillance on Facebook," describes a study to determine what individual characteristics might be predictive of using electronic surveillance to gather information about a romantic partner. Authors Jesse Fox, PhD, Ohio State University, Columbus, and Katie Warber, PhD, Wittenberg University, Springfield, OH, explored several variables including a partner's attachment style, the role of sex, and a partner's level of relationship anxiety, which is likely to be higher among more preoccupied and fearful individuals.

"Prior to social networking tools, it was more difficult to monitor a former partner's life," says Brenda K. Wiederhold, PhD, MBA, BCIA, Editor-in-Chief of Cyberpsychology, Behavior, and Social Networking, from the Interactive Media Institute, San Diego, CA. "While social networking provides many positives, the ability to conduct interpersonal electronic surveillance may lead some individuals to suffer with prolonged feelings of uncertainty after a relationship ends. These results presented here should, however, be interpreted with caution, since the sample was comprised of heterosexual college students and may not extend to other groups."

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About the Journal

Cyberpsychology, Behavior, and Social Networking is a peer-reviewed journal published monthly online with Open Access options and in print that explores the psychological and social issues surrounding the Internet and interactive technologies, plus cybertherapy and rehabilitation. Complete tables of content and a sample issue may be viewed on the Cyberpsychology, Behavior, and Social Networking website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Games for Health Journal, Telemedicine and e-Health, and Journal of Child and Adolescent Psychopharmacology. 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 over 70 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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Who uses social networking sites to monitor their romantic partners?

Despite the fact that only 27 percent of people said they knew what personalized medicine is (and only 4 percent could describe it accurately) , more than 50 percent of consumers are aware of genetic tests and keen to have them. It indicates that a growing number of people may be interested in testing before they get sick.

A survey by market research firm GfK found that the more health concerns participants had, the more interested they were in genetic tests and personalized medicines potential. For example, of the 602 people who participated in the online survey, just over 14 percent said they were very interested in genetic tests but that figure jumped to 48 percent if the respondent had cancer. Cost associated with testing was the biggest concern for 45 percent of respondents.

The majority, 65 percent, preferred to hear about genetic tests through their physician or nurse rather than the Web (45 percent) or mailings to their house accompanies by educational material (31 percent).

But personalized medicine remains more of a curiosity beyond industry publications and those who have a personal stake in knowing about it i.e., patents. It will take longer before it becomes more widely understood to the general public.

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Personalized medicine needs 23andMe awareness campaign

By Jim Dryden - Part of the risk for alcohol dependence is genetic, and the same is true for eating disorders. Now, researchers at Washington University School of Medicine in St. Louis have found its likely some of the same genes are involved in both.

In clinical practice, its been observed that individuals with eating disorders also have high rates of alcohol abuse and dependence, said Melissa A. Munn-Chernoff, PhD, the studys first author. Other studies have focused on the genetic connections between alcohol dependence and eating disorders, but all of those studies looked only at women. Ours was the first to include men as well.

According to Munn-Chernoff, a postdoctoral research scholar in psychiatry, thats important because although eating disorders tend to be thought of as a female problem, they affect men, too.

By studying twins, the researchers used statistical methods to determine the odds that certain traits result from the same genes. Those statistical insights are based on the fact that identical twins share 100 percent of their genetic makeup while fraternal twins share about half.

By comparing the findings in identical and fraternal twins, we can develop estimates of how much of the difference in particular traits is due to genes or environment, Munn-Chernoff explained. We found that some of the genes that influence alcohol dependence also influence binge eating in men and women.

Even with the growing awareness and more frequent diagnoses of problems such as anorexia nervosa and bulimia nervosa, rates of the full-blown forms of these disorders are relatively low, and theyre rare in populations of twins. So the researchers surveyed study subjects about whether they suffered from eating-disorder symptoms.

The symptoms can cut across multiple eating disorder diagnoses, said Munn-Chernoff. And several past studies have suggested that the particular behavior of binge eating, as well as purging and other practices that we call compensatory behaviors, may be closely associated with alcohol dependence, which is why we focused on those symptoms.

All of the men and women in the study were surveyed about their alcohol use and binge eating, but because the researchers were analyzing data that had been gathered previously for a different study, not everyone was asked about compensatory behaviors, such as purging or using laxatives and diuretics. Only the female twins were asked about those symptoms.

In all, nearly 25 percent of the men and 6 percent of women had been alcohol dependent at some point. Almost 11 percent of these same men and 13 percent of the women had experienced problems with binge eating. In addition, about 14 percent of the women had engaged in purging or abuse of laxatives or diuretics.

On a statistical scale that runs from zero (no shared genes) to 1 (all genes shared), the researchers found that the genetic correlation between binge eating and alcohol dependence was statistically significant at .26.

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Genetic Link Between Alcohol Abuse and Eating Disorders

12 hours ago Aug. 23, 2013 - 7:23 AM PDT

Plenty of genetic testing and analysis startups want to use personalized medicine to revolutionize healthcare but theres one thing they may have to do first: help consumers understand what that actually means.

According to a report released this week from research firm GfK, just 27 percent of U.S. consumers said theyd heard of the term personalized medicine, and just 4 percent could accurately describe it as medical care that matched a persons genetic makeup.

Once respondents were told what it meant, the study, which included more than 600 people in the general population over the age of 30, found that 55 percent of people with work-sponsored health plans said they were interested in having a genetic test. Not surprisingly, that figure rose to 80 percent among those who have or have had cancer and, in general, interest increased among those who have more medical conditions.

With the approach of the more-affordable so-called $1,000 genome, the phrase personalized medicine has become more ubiquitous. Several companies, from genetic testing firms 23andme and Gene by Gene to genomic data processing and analysis startups Bina Technologies and Spiral Genetics, are working on technology to help doctors provide care thats most appropriate for a persons genetic characteristics.

That could mean using genetic assessments to determine whether a patient is a slow processor of caffeine or whether theyre at a higher risk for diabetes and other inherited conditions and then recommending the most fitting healthcare regime, or discovering which drugs are most incompatible with a persons genetic predispositions.

Its true that patients dont need to know the term personalized medicine to benefit from genetic testing and consumer-facing companies like 23andme tend to market with plainer language that more generally explains how DNA tests [are] improving lives. But the study still points out that these companies have a bit of work cut out for them when it comes to consumer education.

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Pop quiz: do you know what personalized medicine means?

Genetics Softball 2013 Game Clips 081813
Team Genetics Softball Video Clips from the 2013 Season.

By: softballcoordinator

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Genetics Softball 2013 Game Clips 081813 - Video

Brown vs Dun (Pigeon genetics)
Listed below is a series of Pigeon standards describing brown, dun and khaki. (click #39;Show more #39;) Yes these are different breeds but it is all the same color...

By: FlyingTipplers

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Brown vs Dun (Pigeon genetics) - Video

Perfect Genetics challenge pt2 Someone #39;s pregnant
In this part we found out that Lily is pregnant. Aslo we see what Fellipe #39;s dreams are about. Sims 3 page: http://mypage.thesims3.com/mypage/sharlize23 Twitt...

By: Simmerlover3

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Perfect Genetics challenge pt2 Someone's pregnant - Video

Whtie and yellow Genetics on display

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Whtie and yellow Genetics on display - Video

Population Regulomics: Applying Population Genetics to the Cis-Regulome - Troy Ruths
View more information on the DOE CSGF Program at http://www.krellinst.org/csgf.

By: Krell Institute

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Population Regulomics: Applying Population Genetics to the Cis-Regulome - Troy Ruths - Video

Monica Coenraads Interviews Gail Mandel, Ph.D. and Lab Members
On August 21, 2013 the Journal of Neuroscience published a paper from the Mandel lab suggesting that gene therapy reverses symptoms in fully symptomatic mice...

By: reverserett

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Monica Coenraads Interviews Gail Mandel, Ph.D. and Lab Members - Video

Will Gene Therapy Cure Cancer? | Fw:Thinking
Gene therapy, an alteration of genes within the body to fight or prevent disease, has sparked a revolution in cancer treatment. Cancer is the 2nd leading cau...

By: fwthinking

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Will Gene Therapy Cure Cancer? | Fw:Thinking - Video

Scientists have come a step closer to being able to repair the damage done by heart attacks, using a cocktail of genes to transform scar tissue into working heart muscles.

Novel techniques to mend broken hearts using gene therapy and stem cells represent a major new frontier in the treatment of heart disease.

In the latest breakthrough, achieved by researchers at the Gladstone Institute of Cardiovascular Disease in California, researchers were able to re-programme scar-forming cells into heart muscle cells, some of which were capable of transmitting the kind of electrical signals that make the heart beat, according to the latest issue of the Stem Cell Reports journal.

The same team demonstrated their technique last year in live mice, transforming scar-forming cells, called fibroblasts, into beating heart muscle cells, but this is the first time that human fibroblasts have been re-programmed in this way.

So far, the work with human fibroblasts has only been done in the lab, but it paves the way for new treatments for heart attack victims. Researchers said that the cocktail of genes used to regenerate cells could one day be replaced with small drug-like molecules that would offer safer and easier delivery.

We've now laid a solid foundation for developing a way to reverse the damage [done by a heart attack] something previously thought impossible and changing the way that doctors may treat heart attacks in the future, said Dr Deepak Srivastava, director of cardiovascular disease at the Gladstone Institutes. Our findings here serve as a proof of concept that human fibroblasts can be re-programmed successfully into beating heart cells.

In 2012, Dr Srivastava and his team reported in the journal Nature that, by injecting three genes into the hearts of live mice that had been damaged by heart attack, fibroblasts could be turned into working heart cells.

The scientists attempted the same technique using human fibroblasts from foetal heart cells, embryonic stem cells and neonatal skin cells, injected with genes in petri dishes in the lab. An increased number of genes was required to transform the human cells, and the efficiency of the transformed cells was low, but the team were encouraged by the results.

While almost all the cells in our study exhibited at least a partial transformation, about 20 per cent of them were capable of transmitting electrical signals a key feature of beating hearts, said Gladstone staff scientist Ji-dong Fu, the studys lead author.

The number of people who survive heart attacks has increased considerably in recent decades. The British Heart Foundation (BHF) said earlier this year that 70 per cent of women and 68 per cent of men were now surviving. However, success in keeping people alive after a heart attack has led to a rise in the number of people suffering from the long-term after-effects, which include debilitating heart failure.

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Scientists use gene therapy to repair muscles damaged in heart attacks

WALNUT CREEK, Calif., Aug. 21, 2013 /PRNewswire/ -- The little known FMR1 gene was first mapped in 1991. It was originally thought to cause only fragile X syndrome (FXS) when the gene mutates, but scientists have since discovered that the same mutation that causes the developmental and intellectual disabilities associated with FXS can also cause impaired female fertility (fragile X-associated premature ovarian insufficiency or FXPOI) and a progressively debilitating neurodegenerative disorder that resembles a daunting combination of Alzheimer's and Parkinson's diseases known as fragile X-associated tremor/ataxia syndrome (FXTAS). Together these three are now referred to as Fragile X-Associated Disorders (FXDs).

That's a lot for a single gene to be responsible for, but the FMR1 gene's long-suspected connection to autism has become much clearer within the last 18 months. Recent research has confirmed that there are likely hundreds of genes that can mutate spontaneously or in combination with environmental factors to cause autism. What many refer to as an autism "epidemic" has been slow to give up its secrets, but the identification of hundreds of autism-causing gene candidates is truly a giant step along the road to battling the condition.

What's more, it now appears that the little FMR1 gene also plays what may turn out to be a significant role in autism. As many as half of the suspect autism genes are now known to be regulated (controlled) by the FMR1 gene. This should really come as no surprise since various studies have found that up to 60 percent or more of individuals living with FXS also exhibit enough symptoms of autism to place them squarely on the autism spectrum. Many in the field are convinced that the molecular connection between the Fragile X gene and its protein and autism is among the best and most solid leads to figure out what causes autism.

Yet another recent study documents (for the first time) a subset of individuals with autism who, while they do not have a mutation in their FMR1 gene, do have an abnormally low level of FMRP (the protein made by the FMR1 gene).

These significant findings have not been lost on the major drug companies. At least three such companies are in various stages of human clinical trials of experimental drugs to reverse core symptoms that are shared between FXS and autism. A drug that could be approved for a population as large as those diagnosed with autism has gotten a lot of people's attention, and those in Fragile X research are thrilled to have discovered what some are already calling the key to unlocking autism. While a simplification of a complex process, their thinking is clear: the symptoms of FXS and autism may be caused by the same mechanism in the brain, and a drug capable of reversing that could effectively treat (or dare we say, reverse) both conditions.

As if that weren't enough importance for what's now looking like an "uber" gene for brain development and function, an international team of researchers from the Wellcome Trust Sanger Institute, the Broad Institute of MIT and Harvard, and the Institute for Molecular Medicine Finland have added schizophrenia to the growing list of conditions in which the FMR1 gene might play a role. In studies published just this week, the authors document a mutation in a protein believed to play a role in causing schizophrenia and, like autism researchers before them, have linked this protein to the Fragile X gene and its FMR1 protein.

According to the study's co-author, Dr. Nelson Freimer, a professor of psychiatry at UCLA, the experiments showed that the suspected schizophrenia-causing protein interacts with FMRP. That's the same FMRP, the loss of which causes fragile X syndrome, is the leading cause of inherited forms of autism, and is the most common cause of developmental disability among boys.

"These two disorders, schizophrenia and fragile X syndrome, although they may seem drastically different, share key features, particularly the cognitive impairment that is frequently associated with both conditions," said Freimer for an article on the website PsychCentral.com. "So, it is not unexpected that they could share some of the same biological processes."

A second study from the U.S. National Institutes of Health, also published this week in Nature Neuroscience, outlined an identical relationship between schizophrenia and Fragile X.

Although relegated to relative obscurity for many years, we're likely to start seeing a lot more in the scientific and popular media about the FMR1 gene, its FMRP protein and fragile X syndrome. Increased government funding of these exciting connections is sure to follow.

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All Genes Are Not Created Equal

Public release date: 22-Aug-2013 [ | E-mail | Share ]

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

New Rochelle, NY, August 22, 2013Risk factor modification efforts could help reduce the chance of another heart attack and death among the more than 15 million Americans with coronary heart disease. Yet some patientsespecially women and minoritiesleave the hospital with poorly managed risk factors. An article in Journal of Women's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers, evaluates cardiac risk factors and management strategies by age, sex, and race among 2,369 patients hospitalized for acute myocardial infarction. The article is available free on the Journal of Women's Health website at http://www.liebertpub.com/jwh.

About 93% of the patients in the study had at least one of the five cardiac risk factors evaluated, including hypertension, hypercholesterolemia, current smoking, diabetes, and obesity. Black patients were much more likely to have multiple risk factors than white patients, and black women had the greatest risk factor burden of any of the subgroups. Differences in risk factor modification efforts based on race were also reported.

Erica Leifheit-Limson, PhD and coauthors from Yale School of Public Health and School of Medicine, and Yale-New Haven Hospital (New Haven, CT), St. Luke's Mid America Heart Institute and University of Missouri-Kansas City (Kansas City, MO), and Emory University Rollins School of Public Health and the School of Medicine (Atlanta, GA) report the study results in the article "Prevalence of Traditional Cardiac Risk Factors and Secondary Prevention Among Patients Hospitalized for Acute Myocardial Infarction (AMI): Variation by Age, Sex, and Race."

"These findings indicate missed opportunities for both prevention and management of cardiac risk factors, particularly for women and minority patients," says Susan G. Kornstein, MD, Editor-in-Chief of Journal of Women's Health, Executive Director of the Virginia Commonwealth University Institute for Women's Health, Richmond, VA, and President of the Academy of Women's Health.

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About the Journal

Journal of Women's Health, published monthly, is a core multidisciplinary journal dedicated to the diseases and conditions that hold greater risk for or are more prevalent among women, as well as diseases that present differently in women. The Journal covers the latest advances and clinical applications of new diagnostic procedures and therapeutic protocols for the prevention and management of women's healthcare issues. Complete tables of content and a sample issue may be viewed on the Journal of Women's Health website at http://www.liebertpub.com/jwh. Journal of Women's Health is the Official Journal of the Academy of Women's Health and the Society for Women's Health Research.

About the Academy

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Risk factor reduction after heart attack -- age, race, and gender matter

NEW YORK--(BUSINESS WIRE)--

If personalized treatments are poised to change the face of medicine, that may be news to almost three-quarters of US consumers. In a 2013 study by GfK Bridgehead, a division of GfKs Health team, only 27% of respondents said they had heard of the term personalized medicine, and just 8% considered themselves very knowledgeable about the concept.

More than half (53%) said that personalized medicine refers to medical care somehow geared to individual needs, while others thought the phrase had something to do with doctor/patient collaboration. Just 4% associated personalized medicine with genetics, which is generally considered a key element.

To download a free report about this study, click here.

After being given more information about personalized medicine, consumers varied widely in their receptivity, as well as their openness to genetic testing. Those who perceived their health as poor were less likely to embrace personalized medicine; but people diagnosed with life-threatening cancer were more open to genetic testing, perhaps because of their own experiences with the imperfections of the current system.

The study showed that respondents who are more interested in genetic testing are likely to have

Over half (55%) of those with a work-sponsored health plan said they were interested in having a genetic test a figure that rose to 65% when they learned that a hypothetical test cost $500. With more and more individuals responsible for paying for portions of their care, patients receptivity to costs for different care approaches is an important area to understand.

In addition, respondents who had been diagnosed with life-threatening cancer were twice as likely to express a significant interest in genetic testing, compared to the general population (67% versus 32%).

Without strong consumer awareness, personalized medicine will have a hard time winning acceptance and delivering its promised benefits, said Susan Garfield, Senior Vice President of GfK Bridgehead. Our study points to specific communities that are more likely to be unaware or cautious when it comes to personalized therapies and genetic testing. As such, payers, clinicians, and other stakeholders need to work together to educate all patients about the potential benefits of this new approach to care. Educational efforts need to take into account the different perspectives patients bring into that conversation; not all will immediately see the benefits. Such initiatives need to meet people where they are.

The study also showed that 87% of respondents expected personalized medicine would increase healthcare costs either significantly or moderately over the next five years. Only a very small group of people said they were generally interested in predicting what diseases they might get in the future; but, when asked about specific life-threatening illnesses such as Alzheimers disease and diabetes 70% to 80% said they would want to know if they were at risk.

Link:
Only 27% of US Consumers Have Heard of “Personalized Medicine”

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GENETICS could be used to decrease methane emissions from cattle.

Early results from research by the NSW Department of Primary Industries has shown the potential to select for cattle with lower methane emissions.

The work, carried out at the University of New England campus at Armidale, has been the biggest test of its kind.

And it has prompted key researcher Kath Donoghue to speculate there could be estimated breeding values for methane within a few years.

Dr Donoghue said it was possible to select stock with lower emissions. Early results had shown this may not mean the selection of lower-performing animals.

"Early results are showing there is no antagonistic relationship between methane and growth and body composition," she said.

"We need a better understanding of the relationship with the profitability traits.

"But it could be that down the track there is a dollar index for environmentally friendly production. That could be that you buy a bull that is regarded as a low methane animal, and it will breed for low methane progeny."

Dr Donoghue said it could also mean producers may be able to apply for carbon credits.

"Cattle and sheep emit methane, a potent greenhouse gas, but there are few technologies available to mitigate methane emissions in extensive beef production systems," she said.

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Genetics may cut methane