Genetics of Complex Disease - Larry Brody
August 4, 2014 - From the 2014 National Human Genome Research Institute Summer Workshop in Genomics (Short Course) More: http://www.genome.gov/10000217.

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Let #39;s Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 42
Come join me on my latest journey into the complex world of sims 3 genetics, as I try to get perfect foals and perfect children. Will I succeed in getting perfect genetics in both? Can I keep...

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Savage Genetics - Silent Hill (Dubstep Remix)
ojala les sirba pronto subire las cansiones del diario de brandon.

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Genetics Arteco Production
Genetics by Sean Goodman - DVD.

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In a new study published in Nature Communications, research scientists from Uppsala University present for the first time a large-scale study of the significance of genetic, clinical and lifestyle factors for protein levels in the bloodstream. The results of the study show that genetics and lifestyle are determining factors for protein levels, a discovery which greatly influences the possibilities for using more biomarkers to identify disease.

Biomarkers used for diagnosing disease should preferably indicate variations in protein levels only for those individuals who are suffering from a particular disease. Nor should they vary for reasons which have nothing to do with the disease. By analysing 92 protein biomarkers for cancer and inflammation in a clinical study of 1,000 healthy individuals, researchers at Uppsala University have for the first time surveyed the significance of genetic, clinical and lifestyle factors for protein levels in the bloodstream. The results of the study show that hereditary factors play a significant role for more than 75 per cent of the proteins, and a detailed genetic analysis demonstrates 16 genes with a strong effect on protein levels.

"These results are important, as they show which variables are significant for variations in the measurable values. If these factors are known, we have a greater possibility of seeing variations and we get clearer breakpoints between elevated values and normal values. By extension this may lead to the possibility of using more biomarkers clinically," explains Stefan Enroth, researcher at the Department of Immunology, Genetics and Pathology at Uppsala University.

According to the study, genetics and lifestyle together account in some cases for more than 50 per cent of variations in protein levels among healthy individuals. This means that information about both genetic and lifestyle factors must be taken into account in order for protein biomarkers to be used effectively.

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Genetics, lifestyle have a strong impact on biomarkers for inflammation, cancer

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what is the procedure of stem cell therapy for autism spectrum disorder
What is the procedure of stem cell therapy for autism spectrum disorder? In conversation with Dr Alok Sharma (MS, MCh.) Professor of Neurosurgery Head of Department, LTMG Hospital LTM Medical...

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Oldsmar, FL (PRWEB) August 22, 2014

This funding was made through an additional investment in Cryo-Cells cell therapy research affiliate, Saneron CCEL Therapeutics, Inc. in the form of a convertible promissory note purchase agreement.

Cryo-Cell is extremely pleased to collaborate with Saneron on several fronts to enable the filing of an IND, which we hope will lead to regenerative therapies using cord blood to treat devastating neurodegenerative diseases such as ALS, David Portnoy, Chairman and Co-CEO of Cryo-Cell, stated. He continued, Although this is only the next step, if Sanerons cord blood product ultimately is successfully approved by the FDA to treat ALS, Saneron will indeed prove to be a very valuable corporate asset for Cryo-Cell.

With these funds, Saneron anticipates filing an IND application in the fourth quarter of 2014. The IND for the FDA will be for a Phase I Safety trial enrolling 12 patients that have been diagnosed with ALS, said Nicole Kuzmin-Nichols, President & COO of Saneron. The study will involve the administration of U-CORD-CELL, Sanerons proprietary mononuclear enriched cell fraction of umbilical cord blood to be processed in Cryo-Cells GMP laboratory.

Sanerons sponsored preclinical studies using U-CORD-CELL have demonstrated efficacy in various disease models including: ALS, stroke, myocardial infarction, and Alzheimers disease. In particular, the Cryo-Cell affiliate has demonstrated that a single intravenous administration of U-CORD-CELL can delay disease progression and extend lifespan in a preclinical ALS animal model.

Cryo-Cell is excited that Sanerons U-CORD-CELL processed cell fraction has shown improved efficacy in the ALS preclinical model when previously compared to commonly utilized cord blood cell processing procedures used in the cord blood banking industry.

ALS is a devastating disease that is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells (neurons) responsible for controlling voluntary muscles (muscle action we are able to control, such as those in the arms, legs, and face). The disease belongs to a group of disorders known as motor neuron diseases, which are characterized by the gradual degeneration and death of motor neurons. According to the ALS Association, in the U.S., approximately 30,000 people have ALS and each year 5,000 people are diagnosed with the disease.

About Cryo-Cell International

Founded in 1989, (OTCQB:CCEL) Cryo-Cell International, Inc. is the world's first private cord blood bank. More than 500,000 parents from 87 countries trust Cryo-Cell to preserve their family members' stem cells. Cryo-Cell's mission is to provide clients with state-of-the-art stem cell cryopreservation services and support the advancement of regenerative medicine. Cryo-Cell operates in a facility that is FDA registered, cGMP-/cGTP-compliant and is licensed in all states requiring licensure. Besides being AABB accredited as a cord blood facility, Cryo-Cell is also the first U.S. (for private use only) cord blood bank to receive FACT accreditation for adhering to the most stringent cord blood quality standards set by any internationally recognized, independent accrediting organization. In addition, Cryo-Cell is ISO 9001:2008 certified by BSI, an internationally recognized, quality assessment organization. Cryo-Cell is a publicly traded company, OTCQB: CCEL. For more information, please visit http://www.cryo-cell.com.

About Saneron CCEL Therapeutics, Inc.

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3 hours ago Credit: National Institutes of Health (common fund)

Researchers of the ISREC Institute at the School of Life Sciences, EPFL, have deciphered the mechanism whereby some microRNAs are retained in the cell while others are secreted and delivered to neighboring cells.

There are many ways cells can communicate with each other. One important mode is the release by a cell of signaling molecules that can bind receptors expressed on the surface of another cell to initiate a specific response. In other cases, cells release small vesicles that are packed with signaling molecules of one or more types; such vesicles can fuse with, or be uptaken by, other cells that internalize their content. Exosomes are small vesicles (also called microvesicles) produced by virtually all cell types. After their release to the extracellular environment like the interstices amongst cells, the blood or other body fluids exosomes can fuse with neighboring or distant cells, to which they transfer their cargo of functional molecules. Remarkably, exosomes not only contain conventional signaling molecules like proteins and peptides but also nucleic acids, such as RNAs and DNA fragments, which can horizontally transfer genetic information from one cell to another.

Modulators born within the cells

microRNAs are small RNA molecules that can tune cell behavior by directly modulating the stability of other RNA molecules, called messenger RNAs (mRNAs), which are the precursors of all cellular proteins. Several dozen functional microRNA species are produced by each cell type. These may target hundreds of mRNAs to finely modulate the global protein output of the cell. Recent studies have shown that microRNAs are packed, along with other molecules, into exosomes and are secreted to the extracellular environment by many distinct cell types. This discovery suggests a new mechanism of cell communication involving the ability of exosomal microRNAs to "reprogram" the gene expression of cells that have internalized them. For example, some of the internalized microRNAs could influence the cell's ability to produce certain proteins that, in turn, may affect the cell functions and behavior.

Sorting out microRNAs

Interestingly, the microRNA composition of exosomes may differ from that of the producer cell. Indeed, some microRNA species can be abundant in the cell but scarce in its exosomes, and vice versa. This finding suggests that the sorting of specific microRNAs to exosomes may be actively regulated, although the underlying mechanisms have remained elusive. With the financial support of the Fonds National Suisse de la Recherche Scientifique (SNSF), Michele De Palma and his colleagues at EPFL and at the Swiss Institute of Bioinformatics (SIB) of the University of Lausanne, have now identified a mechanism that may explain the differential incorporation of microRNAs into exosomes. By performing RNA sequencing and bioinformatic modeling of the data, the researchers found that the sorting of microRNAs to exosomes is directly controlled by the abundance of the mRNAs they target in the producer cell. When the target mRNAs of a given microRNA increase in the cell for example as a consequence of cell activation the microRNA is more likely to be retained in the cell and excluded from exosomes. Conversely, if the mRNA levels decline, the microRNA is loaded into exosomes and secreted. These findings imply that the secretion of microRNAs through exosomes is a mechanism whereby cells rapidly dispose the microRNAs that are in excess of their target mRNAs.

"It may seem a quite intuitive and straightforward mechanism," explains Mario Leonardo Squadrito, a leading author of the study, "but investigating the cross-talk between microRNAs and their targeted transcripts has proven challenging and required complex bioinformatic analyses." The authors also took advantage of lentiviral vectors they had developed to specifically introduce or delete selected microRNAs, or their targeted mRNAs, in the cells. "These experiments have been crucial to document how microRNAs can dynamically traffic from the cell cytoplasm to exosomes, in response to changes of the RNA levels," adds Squadrito.

Biological markers

The microRNAs contained in circulating exosomes ("microRNA signatures") are increasingly recognized as potential biomarkers of disease and response to therapy. The findings of De Palma and colleagues not only identify a general mechanism regulating microRNA sorting to exosomes, but may also help understand how the microRNA signatures observed in circulating exosomes originate from within the cells. For example, patients with some types of cancer display specific microRNA signatures in their blood that may reflect the altered, and possibly evolving, mRNA (and protein) expression profiles of their tumors. Another important area of research is the analysis of the fate of the microRNAs once the exosomes are internalized by cells. "Although our findings suggest that a significant proportion of the internalized microRNAs may be degraded, we employed sensitive new techniques to demonstrate that they retain the ability to modulate gene expression in the target cell," explains Caroline Baer, another leading author of the study. "A fascinating side of the story is that cells produce profuse amounts of exosomes packed with microRNAs. If cells of different type and origin can effectively exchange this form of genetic information, their boundaries must be less tight than we used to think."

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Chemotherapy and Radiation Therapy

Before you get the stem cell transplant, youll get the actual cancer treatment. To destroy the abnormal stem cells, blood cells, and cancer cells your doctor will give you high doses of chemotherapy, radiation therapy, or both. In the process, the treatment will kill healthy cells in your bone marrow, essentially making it empty. Your blood counts (number of red blood cells, white blood cells, and platelets) will drop quickly. Since chemotherapy and radiation can cause nausea and vomiting, you might need anti-nausea drugs.

Without bone marrow, your body is vulnerable. You won't have enough white blood cells to protect you from infection. So during this time, you might be isolated in a hospital room or required to stay at home until the new bone marrow starts growing. You might also need transfusions and medication to keep you healthy.

A few days after youve finished with your chemotherapy or radiation treatment, your doctor will order the actual stem cell transplant. The harvested stem cells -- either from a donor or from your own body -- are thawed and infused into a vein through an IV tube. The process is essentially painless. The actual stem cell transplant is similar to a blood transfusion. It takes one to five hours.

The stem cells then naturally move into the bone marrow. The restored bone marrow should begin producing normal blood cells after several days, or up to several weeks later.

The amount of time youll need to be isolated will depend on your blood counts and general health. When you are released from the hospital or from isolation at home, your transplant team will provide you with specific instructions on how to care for yourself and prevent infections. Youll also learn what symptoms need to be checked out immediately. Full recovery of the immune system might take months or even years. Your doctor will need to do tests to check on how well your new bone marrow is doing.

There are also variations in the stem cell transplant process being studied in clinical trials. One approach is called a tandem transplant, in which a person would get two rounds of chemotherapy and two separate stem cell transplants. The two transplants are usually done within six months of one another.

Another is called a mini-transplant, in which doctors use lower doses of chemotherapy and radiation. The treatment is not strong enough to kill all of the bone marrow -- and it wont kill all of the cancer cells either. However, once the donated stem cells take hold in the bone marrow, they produce immune cells that might attack and kill the remaining cancer cells. This is also called a non-myeloablative transplant.

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Released: 19-Aug-2014 11:30 AM EDT Embargo expired: 21-Aug-2014 12:00 PM EDT Source Newsroom: Johns Hopkins Medicine Contact Information

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Newswise Johns Hopkins stem cell biologists have found a way to reprogram a patients skin cells into cells that mimic and display many biological features of a rare genetic disorder called familial dysautonomia. The process requires growing the skin cells in a bath of proteins and chemical additives while turning on a gene to produce neural crest cells, which give rise to several adult cell types. The researchers say their work substantially expedites the creation of neural crest cells from any patient with a neural crest-related disorder, a tool that lets physicians and scientists study each patients disorder at the cellular level.

Previously, the same research team produced customized neural crest cells by first reprogramming patient skin cells into induced pluripotent stem (iPS) cells, which are similar to embryonic stem cells in their ability to become any of a broad array of cell types.

Now we can circumvent the iPS cells step, saving seven to nine months of time and labor and producing neural crest cells that are more similar to the familial dysautonomia patients cells, says Gabsang Lee, Ph.D., an assistant professor of neurology at the Institute for Cell Engineering and the studys senior author. A summary of the study will be published online in the journal Cell Stem Cell on Aug. 21.

Neural crest cells appear early in human and other animal prenatal development, and they give rise to many important structures, including most of the nervous system (apart from the brain and spinal cord), the bones of the skull and jaws, and pigment-producing skin cells. Dysfunctional neural crest cells cause familial dysautonomia, which is incurable and can affect nerves ability to regulate emotions, blood pressure and bowel movements. Less than 500 patients worldwide suffer from familial dysautonomia, but dysfunctional neural crest cells can cause other disorders, such as facial malformations and an inability to feel pain.

The challenge for scientists has been the fact that by the time a person is born, very few neural crest cells remain, making it hard to study how they cause the various disorders.

To make patient-specific neural crest cells, the team began with laboratory-grown skin cells that had been genetically modified to respond to the presence of the chemical doxycycline by glowing green and turning on the gene Sox10, which guides cells toward maturation as a neural crest cell.

Testing various combinations of molecular signals and watching for telltale green cells, the team found a regimen that turned 2 percent of the cells green. That combination involved turning on Sox10 while growing the cells on a layer of two different proteins and giving them three chemical additives to rewind their genetic memory and stimulate a protein network important for development.

Analyzing the green cells at the single cell level, the researchers found that they showed gene activity similar to that of other neural crest cells. Moreover, they discovered that 40 percent were quad-potent, or able to become the four cell types typically derived from neural crest cells, while 35 percent were tri-potent and could become three of the four. The cells also migrated to the appropriate locations in chick embryos when implanted early in development.

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Biologists Reprogram Skin Cells to Mimic Rare Disease

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Durham, NC (PRWEB) August 22, 2014

Human induced pluripotent stem cells (hiPSCs) have great potential in the field of regenerative medicine because they can be coaxed to turn into specific cells; however, the new cells dont always act as anticipated. They sometimes mutate, develop into tumors or produce other negative side effects. But in a new study recently published in STEM CELLS Translational Medicine, researchers appear to have found a way around this, simply by removing the material used to reprogram the stem cell after they have differentiated into the desired cells.

The study, by Ken Igawa, M.D., Ph.D., and his colleagues at Tokyo Medical and Dental University along with a team from Osaka University, could have significant implications both in the clinic and in the lab.

Scientists induce (differentiate) the stem cells to become the desired cells, such as those that make up heart muscle, in the laboratory using a reprogramming transgene that is, a gene taken from one organism and introduced into another using artificial techniques.

We generated hiPSC lines from normal human skin cells using reprogramming transgenes, then we removed the reprogramming material. When we compared the transgene-free cells with those that had residual transgenes, both appeared quite similar, Dr. Igawa explained. However, after the cells differentiation into skin cells, clear differences were observed.

Several types of analyses revealed that the keratinocytes cells that make up 90 percent of the outermost skin layer that emerged from the transgene-free hiPSC lines were more like normal human cells than those coming from the hiPSCs that still contained some reprogramming material.

These results suggest that transgene-free hiPSC lines should be chosen for therapeutic purposes, Dr. Igawa concluded.

Human induced pluripotent stem cell (hiPSC) lines have potential for therapeutics because of the customized cells and organs that can potentially be induced from such cells, Anthony Atala, M.D., editor of STEM CELLS Translational Medicine and director of the Wake Forest Institute for Regenerative Medicine. This study illustrates a potentially powerful approach for creating hiPSCs for clinical use.

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The full article, Removal of Reprogramming Transgenes Improves the Tissue Reconstitution Potential of Keratinocytes Generated From Human Induced Pluripotent Stem Cells, can be accessed at http://stemcellstm.alphamedpress.org/content/early/2014/07/14/sctm.2013-0179.abstract.

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(Phys.org) A problem that has puzzled canola breeders for years has been solved by researchers from The University of Western Australia - and the results could provide a vital breakthrough in understanding the impact of increasing global temperatures on crop flowering.

The key to understanding what makes Australian canola flower earlier than its Canadian and European counterparts lies in the genes.

Associate Professor Matthew Nelson from UWA's Institute of Agriculture and School of Plant Biology has identified that heat-responsive genes are responsible for flowering time in Australian spring-type and European summer-type canola. This is the first time such genes have been reported to influence flowering time in canola.

Australian canola is quite distinct from its Canadian and European counterparts - it flowers much earlier. Plant breeders cannot simply transfer varieties from Canada or Europe into Australia as they flower much too late for the Australian environment.

"We took a European summer-type canola, crossed it with Monty, a typical early flowering Australian variety, and analysed the progeny for variation in flowering time," Associate Professor Nelson said.

"There was a huge variation from about 30 days to 160 days in our typical Australian environment. This was totally unexpected and we showed there are several forms of these heat-responsive genes controlling flowering time."

The research indicated that the European plants required much more accumulated heat (thermal time) to flower than the Australian plants.

"Until now, most researchers assumed that long summer days in Europe and Canada triggered flowering, not heat," Associate Professor Nelson said. "Now we know that long days are only a minor part of the story."

"Understanding this complex process is important as breeders alter the adaptation of crops to a new and changing environment," research team leader Winthrop Professor Wallace Cowling said. "International canola breeders will use this information to re-establish the correct flowering time in canola when they cross between Australian types and summer annual types in the northern hemisphere.

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Canola flowers faster with heat genes

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Aug 21, 2014

(Phys.org) There's an old saying in the biofuels industry: "You can make anything from lignin except money." But now, a new study may pave the way to challenging that adage. The study from the Energy Department's National Renewable Energy Laboratory (NREL) demonstrates a concept that provides opportunities for the successful conversion of lignin into a variety of renewable fuels, chemicals, and materials for a sustainable energy economy.

"Lignin Valorization Through Integrated Biological Funneling and Chemical Catalysis" was recently published in the Proceedings of the National Academy of Sciences. The NREL-led research project explores an innovative method for upgrading lignin.

The process for converting glucose from biomass into fuels such as ethanol has been well established. However, plants also contain a significant amount of lignin up to 30 percent of their cell walls. Lignin is a heterogeneous aromatic polymer that plants use to strengthen cell walls, but it is typically considered a hindrance to cost-effectively obtaining carbohydrates, and residual lignin is often burned for process heat because it is difficult to depolymerize and upgrade into useful fuels or chemicals.

"Biorefineries that convert cellulosic biomass into liquid transportation fuels typically generate more lignin than necessary to power the operation," NREL Senior Engineer and a co-author of the study Gregg Beckham said. "Strategies that incorporate new approaches to transform the leftover lignin to more diverse and valuable products are desperately needed."

Although lignin depolymerization has been studied for nearly a century, the development of cost-effective upgrading processes for lignin valorization has been limited.

In nature, some microorganisms have figured out how to overcome the heterogeneity of lignin. "Rot" fungi and some bacteria are able to secrete powerful enzymes or chemical oxidants to break down lignin in plant cell walls, which produces a heterogeneous mixture of aromatic molecules. Given this large pool of aromatics present in nature, some bacteria have developed "funneling" pathways to uptake the resulting aromatic molecules and use them as a carbon and energy source.

This new study shows that developing biological conversion processes for one such lignin-utilizing organism may enable new routes to overcome the heterogeneity of lignin. And, that may enable a broader slate of molecules derived from lignocellulosic biomass.

"The conceptual approach we demonstrate can be applied to many different types of biomass feedstocks and combined with many different strategies for breaking down lignin, engineering the biological pathways to produce different intermediates, and catalytically upgrading the biologically-derived product to develop a larger range of valuable molecules derived from lignin," Beckham said. "It holds promise for a wide variety of industrial applications. While this is very exciting, certainly there remains a significant amount of technology development to make this process economically viable."

A patent application has been filed on this research and NREL's Technology Transfer Office will be working with researchers to identify potential licensees of the technology.

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New process helps overcome obstacles to produce renewable fuels and chemicals

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21-Aug-2014

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

New Rochelle, NY, August 21, 2014--Mesenchymal stem cells (MSCs) are present in virtually every type of human tissue and may help in organ regeneration after injury. But the theory that MSCs are released from the bone marrow into the blood stream following organ damage, and migrate to the site of injury, has long been debated. M.J. Hoogduijn and colleagues provide conclusive evidence to resolve the controversy over the mobilization and migration of MSCs in humans in a new study published in Stem Cells and Development, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available on the Stem Cells and Development website.

In "No Evidence for Circulating Mesenchymal Stem Cells in Patients with Organ Injury," Hoogduijn and coauthors from Erasmus University Medical Center (Rotterdam, The Netherlands), describe the results of studies to detect MSCs in the blood of healthy individuals, of patients with end-stage renal disease, of patients with end-stage liver disease, and of heart transplant patients with organ rejection. Whereas they did not find MSCs in the circulation of these individuals, they did report the presence of MSCs in the blood of a patient suffering from severe trauma with multiple fractures. In the trauma patient, the circulating MSCs likely derived from disruption of the bone marrow caused by the fractures.

"We can add the simple but elegant work of Martin Hoogduijn to the pantheon of studies in stem cell research that skewer a long treasured tenet of faith and consign it to mythology," says Editor-in-Chief Graham C. Parker, PhD, The Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI.

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About the Journal

Stem Cells and Development is an authoritative peer-reviewed journal published 24 times per year in print and online. The Journal is dedicated to communication and objective analysis of developments in the biology, characteristics, and therapeutic utility of stem cells, especially those of the hematopoietic system. A complete table of contents and free sample issue may be viewed on the Stem Cells and Development website.

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Conclusive evidence on role of circulating mesenchymal stem cells in organ injury

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21-Aug-2014

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

New Rochelle, NY, August 21, 2014Popular fiction that normalizes and glamorizes violence against women, such as the blockbuster Fifty Shades series, may be associated with a greater risk of potentially harmful health behaviors and risks. The results of a provocative new study are presented in the article "Fiction or Not? Fifty Shades Is Associated with Health Risks in Adolescent and Young Adult Females," published in Journal of Women's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Women's Health website.

Amy Bonomi and coauthors from Michigan State University (East Lansing, MI), Group Health Research Institute (Seattle, WA), and Ohio State University (Columbus, OH) compared young women ages 18-24, readers versus non-readers of at least the first novel in the Fifty Shades series based on self-reports of intimate partner violence victimization (including shouting, swearing, delivering unwanted calls or text messages, and other forms of verbal/emotional abuse, stalking, as well as physical and sexual abuse), binge drinking, disordered eating (use of diet aids and fasting for more than 24 hours), and sexual practices such as number of intercourse partners during their lifetime. The findings point to a substantially greater risk for certain adverse health behaviors among the group that read Fifty Shades, which hyper-sexualizes women and may reaffirm and create the context for those behaviors.

"Clearly, we need a better understanding of the association between reading popular fiction that depicts violence towards women and engaging in risky health behaviors, particularly among adolescent and young adult women," 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.

###

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. 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 Society

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Women's health and Fifty Shades: Increased risks for young adult readers?

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Advances in molecular medicine, genetic testing, and laboratory technologies to be featured at the College of American Pathologists annual meeting CAP 14: Sept. 7-10, Chicago

NORTHFIELD, ILL. New science in molecular and genetic testing for breast, colon, and prostate cancer, as well as leukemia, will be among the special features at the College of American Pathologists annual scientific and education meeting, CAP'14--THE Pathologists' Meeting, Sept. 7-10 at the Hyatt Regency in Chicago.

More accurate diagnoses and precise treatments through molecular diagnostics offer new hope for the millions of patients battling cancer each year, said CAP President Gene N. Herbek, MD, FCAP. As the doctors who diagnose disease and guide treatment, pathologists want to keep current on the new diagnostic procedures that can enhance patient care. CAP14 brings together the leading experts in laboratory medicine to share the latest information to benefit patients.

World-renowned experts in pathology and laboratory medicine will examine the clinical and economic impact of genomic-based testing, as well as share insights on the pathologists role in coordinated care models and appropriate test selection to reduce medical costs and unnecessary testing.

Highlighted scientific topics and educational courses include:

Special Scientific Plenary Session: Molecular MedicineCan We Afford It?, lead by national thought leaders: o Debra G.B. Leonard, MD, PhD, FCAP, chair of pathology at the University of Vermont o David O. Meltzer, MD, PhD, a health economist at the University of Chicago o Adam C. Berger, PhD, director of the Instituteof Medicines Roundtable on Translating Genomic-Based Research for Health Beyond the microscope, emerging technologies and new ways to guide clinical decision making The use clinical informatics in an era of meaningful use

View a complete list of CAP14 media hot topics by day and by subject on cap.org. Contact CAP Media for free media registration or to arrange an interview with one of the experts.

Highlighted events to be featured at CAP14 include: The Next 20 Years: How Science Will Revolutionize Medicine, featuring futurist and celebrated author, Michio Kaku, PhD The top five Junior member-submitted abstracts, representing original pathology research The Path to a Future in Medicine program honoring five of the best and brightest high school science students from the Chicago Public Schools

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Physician Experts Available to Discuss Advances in Molecular Medicine and Genetic Testing at the College of American Pathologists annual meeting CAP 14: Sept. 7-10, Chicago

NORTHFIELD, ILL. New science in molecular and genetic testing for breast, colon, and prostate cancer, as well as leukemia, will be among the special features at the College of American Pathologists annual scientific and education meeting, CAP14THE Pathologists Meeting, Sept. 7-10 at the Hyatt Regency in Chicago.

World-renowned experts in pathology and laboratory medicine are available to speak about the clinical and economic impact of genomic-based testing, as well as share insights on the pathologists role in coordinated care models and appropriate test selection to reduce medical costs and unnecessary testing. Highlighted scientific topics and educational courses to be featured at CAP14 include:

Special Scientific Plenary Session: Molecular MedicineCan We Afford It?, lead by national thought leaders: o Debra G.B. Leonard, MD, PhD, FCAP, chair of pathology at the University of Vermont o David O. Meltzer, MD, PhD, a health economist at the University of Chicago o Adam C. Berger, PhD, director of the Instituteof Medicines Roundtable on Translating Genomic-Based Research for Health

Beyond the microscope, emerging technologies and new ways to guide clinical decision making The use clinical informatics in an era of meaningful use

View a complete list of CAP14 media hot topics by day and by subject on cap.org. Contact CAP Media at media@cap.org for free media registration or to arrange an interview with one of the experts before, during, or following CAP14. Physician experts are media-trained.

About Pathologists Sometimes called the doctors doctor, pathologists are physicians who use laboratory medicine to identify and diagnose disease from pre-birth to post-death. They work with other physicians on the patient care team to guide treatment for medical conditions, from diabetes to cancer.

About the College of American Pathologists As the leading organization with more than 18,000 board-certified pathologists, the College of American Pathologists (CAP) serves patients, pathologists, and the public by fostering and advocating excellence in the practice of pathology and laboratory medicine worldwide. The CAPs Laboratory Improvement Programs, initiated 65 years ago, currently has customers in more than 100 countries, accrediting 7,600 laboratories and providing proficiency testing to 20,000 laboratories worldwide. Find more information about the CAP at cap.org. Follow the CAP on Twitter: @pathologists.

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Physician Experts Discuss Advances in Genetic Testing & Laboratory Medicine at CAP'14, Sept. 7-10, Chicago @Pathologists

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If doctors discovered you had a 30 per cent chance of developing colon cancer, would you want to know? What if that probability was only 10 per cent, or perhaps as high as 50? Maybe it would depend on what you could do to improve your prognosis or whether the information would be confidential.

These ethical issues are becoming increasingly relevant following the announcement this month of a landmark 300m project to sequence the genomes of 100,000 NHS patients. The programme, which will last four years, is part of the developing field of personalised medicine and it aims to use genetic data to customise medical treatments.

Currently, many diseases are defined by their symptoms or the site of occurrence. Greater understanding of the genetic causes of illness suggests that this method of categorisation might not be the most accurate. For instance, scientists now believe that cancer is better understood as a plethora of diseases rather than a single one because of the variety of underlying genetic mutations.

Improved awareness of these genetic factors raises thepotential of new treatment options. Up to one in four cases of breast cancer is caused by a mutation in the gene thatencodes the HER2 protein. As such, Herceptin, the drug used to target the protein, isgiven only to breast cancer patients with this genetic abnormality. It is hoped that further research will allow more drugs to be optimised inasimilar way.

Personalised medicine could also be safer. Genetic variation among patients has been linkedto dangerous reactions to drugs. In 2004, a British Medical Journal report estimated that each year in the UK, more than10,000 deaths result from adverse reactions to drugs. Bypredicting how patients will respond to medication, genetic screening could help avoid these cases.

There is also the possibility of disease prevention. If we know which diseases we are most susceptible to, that allows us to take precautions. For instance, a patient might choose to have surgery to remove her ovaries after discovering that she has a genetic predisposition to ovarian cancer. These changes can also be more subtle. Health advice can often seem overwhelming; genetic testing could personalise dietary guidelines or fitness regimesfor individuals.

These exciting developments bring challenges. A 2001 study found that genetic testing had certain severe psychological implications, with a group of adults reporting clinical levels of anxiety and depression after learning that their genes predisposed them to colon cancer. Especially when it comes to conditions for which effective treatment isnt available, its worth asking yourself how much of your genome you wish to explore.

Another concern often raised is the legal status of genetic data. In 2008, the US government introduced the Genetic Information Nondiscrimination Act to prevent employers and health insurers requesting genetic records. In the UK the government relies on a voluntary agreement with the Association of British Insurers. This expires in 2017 and a review is due this year.

That said, if you wish to discover your medical fate you neednt wait for the NHS project. Private companies already offer genotyping services for less than 100.

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Greater understanding of the genetic causes of illness suggests that this method of categorisation might not be the ...

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Researchers say Tibetans have a genetic variation that enables them to survive in high altitude, low oxygen environments This could explain how they can survive at heights of 14,800 feet (4,510m) The mutation is believed to have originated 8,000 years ago It gives them a selective advantage in their environment over other humans Finding could lead to novel solutions for diseases such as cancer Tibet is a high-altitude plateau region north-east of the Himalayas in China

By Jonathan O'Callaghan for MailOnline

Published: 03:43 EST, 21 August 2014 | Updated: 07:54 EST, 21 August 2014

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Sure, Wolverine's claws were impressive, but how would one of the most famous X-Men have coped if he'd tried to survive at a height of over 14,000ft (4,270 metres)?

The answer would most likely be 'not well', but while off-limits to some, it turns out that people such as Tibetans can thrive in the thin air of high-altitude areas thanks to an 8,000 year-old mutation.

Researchers say they've successfully identified this genetic variation for the first time, and it could explain how some people can survive in these extreme environments.

Researchers say Tibetans (pictured) have a genetic variation that enables them to survive in high altitude, low oxygen environments. This could explain how they can survive at heights of 14,800 feet (4,510m)

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Tibetan people's genetic mutation enables them to survive with less oxygen

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Illumina Illumina, the leading maker of DNA sequencing equipment, is partnering with Sanofi Sanofi, AstraZeneca AstraZeneca, and Johnson & Johnson Johnson & Johnson to create a test for more mutations in dozens of genes that will be used first in clinical trials and, eventually, to help decide which patient should get which marketed drug.

The tool is necessary because new cancer drugs like Roches Zelboraf and Astras Iressa work only against cells that became cancerous because of particular genetic mutations. Detecting these mutations will allow doctors to pick drugs and cocktails of drugs aimed at the molecular machinery of a particular tumor. For instance, some research has shown that if a colorectal cancer tumor has a particular mutation, it might respond to the combination of a drug like Zelboraf and one like Iressa.

Illumina CEO Jay Flatley leads the innovative company.

Earlier this year, I met with Richard Klausner, Illuminas chief medical officer and the former director of the National Cancer Institute. He told me that he had been visiting large pharmaceutical companies with plans to develop a kind of master test. The idea is that companies would tell Illumina what cancer genes they are developing drugs targeted against. Then, using this information from all of these companies, it could create a genetic test that runs on its DNA sequencing machines that all companies could use in clinical trials, so that instead of developing tests one by one there would be a single test.

The goal is that everyone will use a universal panel, Klausner told me. This appears to be a step in that direction. Illumina says in its press release that the new test will look at at least 125 known cancer-causing genes. The test will run on MiSeqDx, the only next-generation DNA sequencing machine approved by the Food and Drug Administration. That could put Illumina in partial competition with some of its customers, like Foundation Medicine, which offers DNA sequencing tests for choosing cancer drugs, although Klausner told me he foresees technologies like Foundations being used for more complex analyses or more complicated cases. I think there is plenty of room, Klausner says.

The transition to patient-centered companion therapeutics marks a new era for oncology, and we are pleased to see pharmaceutical companies working with Illumina on a universal platform to bring life- saving treatments through their development pipelines, said Ellen V. Sigal, Ph.D., Chair and Founder of Friends of Cancer Research, in a prepared statement issued by Illumina. This is the type of collaboration that will make real progress for patients.

Klausner told me in an interview last night that the partnerships with the drug giants will be three-pronged: a technical partnership for creating the tests; a regulatory partnership for dealing with the FDA and other regulators; and a commercial partnership, in which Illumina guarantees it will make the tests available where companies sell their drugs.

As a regulatory framework, this could be disruptive. The FDA currently talks about companion diagnostics, that is, diagnostic tests that are paired with drugs. But Klausner says he is thinking in terms of companion therapeutics: in other words, all the drugs are paired with the same test. Its a big change, he says. The FDA is totally embracing it.

For more on Illumina, its history, and the potential of DNA sequencing, read my profile of the company and its CEO, Jay Flatley, in the current issue of Forbes.

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Illumina Partners With Big Pharma To Create New Genetic Tests For Cancer

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Novartis ( NVS ) recently entered into an investment and option agreement with Israel-based Gamida Cell, a company which focuses on stem cell expansion technologies and therapeutic products.

As per the terms of the agreement, Novartis will invest $35 million in Gamida Cell. In exchange, Novartis will receive a 15% stake in Gamida Cell and an option to fully acquire the company.

The option for full acquisition is exercisable for a limited period of time following achievement of certain milestones in connection with the development of pipeline candidate, NiCord. These milestones are expected to be achieved during 2015. Novartis will also be required to pay the other shareholders in Gamida Cell approximately $165 million upon exercising the option along with potential milestone payments of $435 million.

We note that Gamida Cell is developing stem cell therapy for the potential treatment of blood cancers, solid tumors, non-malignant hematological diseases such as sickle cell disease and thalassemia, neutropenia and acute radiation syndrome, autoimmune diseases and genetic metabolic diseases as well as conditions that can be helped by regenerative medicine.

The company is currently evaluating NiCord for the potential treatment of hematological malignancies such as leukemia and lymphoma in a phase I/II study using its proprietary NAM technology.

Meanwhile, enrolment is on for the company's phase I/II study on NiCord for pediatric sickle cell disease.

We remind investors that Novartis has been taking strategic steps to realign its portfolio in order to focus on its core portfolio of pharmaceuticals, eye care and generics. Novartis' recent deal to acquire oncology products from GlaxoSmithKline ( GSK ) and the divestiture of the Vaccines business is a step in the right direction.

Novartis, a large-cap pharma, currently carries a Zacks Rank #3 (Hold). Right now, Allergan ( AGN ) and AbbVie ( ABBV ) look well positioned among the large-cap pharmas. While Allergan carries a Zacks Rank #1 (Strong Buy), AbbVie is a Zacks Rank #2 (Buy) stock.

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Novartis to Invest $35M in Gamida Cell for 15% Equity - Analyst Blog

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Endothelial cells residing in the coronary arteries can function as cardiac stem cells to produce new heart muscle tissue, Vanderbilt University investigators have discovered.

The findings, published recently in Cell Reports, offer insights into how the heart maintains itself and could lead to new strategies for repairing the heart when it fails after a heart attack.

The heart has long been considered to be an organ without regenerative potential, said Antonis Hatzopoulos, Ph.D., associate professor of Medicine and Cell and Developmental Biology.

"People thought that the same heart you had as a young child, you had as an old man or woman as well," he said.

Recent findings, however, have demonstrated that new heart muscle cells are generated at a low rate, suggesting the presence of cardiac stem cells. The source of these cells was unknown.

Hatzopoulos and colleagues postulated that the endothelial cells that line blood vessels might have the potential to generate new heart cells. They knew that endothelial cells give rise to other cell types, including blood cells, during development.

Now, using sophisticated technologies to "track" cells in a mouse model, they have demonstrated that endothelial cells in the coronary arteries generate new cardiac muscle cells in healthy hearts. They found two populations of cardiac stem cells in the coronary arteries -- a quiescent population in the media layer and a proliferative population in the adventitia (outer) layer.

The finding that coronary arteries house a cardiac stem cell "niche" has interesting implications, Hatzopoulos said. Coronary artery disease -- the No. 1 killer in the United States -- would impact this niche.

"Our study suggests that coronary artery disease could lead to heart failure not only by blocking the arteries and causing heart attacks, but also by affecting the way the heart is maintained and regenerated," he said.

The current research follows a previous study in which Hatzopoulos and colleagues demonstrated that after a heart attack, endothelial cells give rise to the fibroblasts that generate scar tissue.

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Coronary arteries hold heart-regenerating cells

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

20-Aug-2014

Contact: Craig Boerner craig.boerner@vanderbilt.edu 615-322-4747 Vanderbilt University Medical Center

Endothelial cells residing in the coronary arteries can function as cardiac stem cells to produce new heart muscle tissue, Vanderbilt University investigators have discovered.

The findings, published recently in Cell Reports, offer insights into how the heart maintains itself and could lead to new strategies for repairing the heart when it fails after a heart attack.

The heart has long been considered to be an organ without regenerative potential, said Antonis Hatzopoulos, Ph.D., associate professor of Medicine and Cell and Developmental Biology.

"People thought that the same heart you had as a young child, you had as an old man or woman as well," he said.

Recent findings, however, have demonstrated that new heart muscle cells are generated at a low rate, suggesting the presence of cardiac stem cells. The source of these cells was unknown.

Hatzopoulos and colleagues postulated that the endothelial cells that line blood vessels might have the potential to generate new heart cells. They knew that endothelial cells give rise to other cell types, including blood cells, during development.

Now, using sophisticated technologies to "track" cells in a mouse model, they have demonstrated that endothelial cells in the coronary arteries generate new cardiac muscle cells in healthy hearts. They found two populations of cardiac stem cells in the coronary arteries a quiescent population in the media layer and a proliferative population in the adventitia (outer) layer.

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Vanderbilt researchers find that coronary arteries hold heart-regenerating cells

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A team of chemical engineers from MIT has developed a new method of stimulating bone growth, by utilizing the same chemical processes that occur naturally in the human body following an injury such as a broken or fractured bone. The technique involves the insertion of a porous scaffold coated with growth factors that prompt the body's own cells to naturally mend the damaged or deformed bone.

Current techniques for replacing or mending damaged bone often include a bone transplant from another area of the patient's body. This is an expensive, painful, and often inadequate option for treatment, as it is difficult to harvest enough bone to successfully treat the wound. Due to the inadequacies of the current forms of bone replacement treatment, a number of scaffold-based approaches are in development, however few are as promising as the tissue scaffold presented by the team from MIT.

The new method would seek to mimic the natural steps taken by the human body to encourage bone growth without the unpleasant necessity of extracting further bone from the patient's body. After a break or fracture, the body releases both platelet-derived growth factors, (PDGF) and bone morphogenetic protein 2 (BMP-2), in order to stimulate natural bone regeneration. These factors essentially recruit other immature cells, coaxing them to become osteoblasts, a cell type with the capacity to create new bone. At the same time, the PDFG and BMP-2 provide a supporting structure around which the bone can be rebuilt.

The 0.1 mm-thick polymer scaffold sheet developed by the scientists from MIT would appear to successfully mimic this biological process, releasing the growth factors in the correct order and quantity, essentially tricking the body into thinking it had initiated the healing process itself. Previous attempts at biomimicry in this area have failed due to an inability to release the growth factors in a natural and controlled fashion, causing the body to clear the factors away from the wound before they could have any substantial healing effect.

The scaffold has the potential to do away with the painful, invasive procedures currently used to repair/replace bone (Image: MIT)

"You want the growth factor to be released very slowly and with nanogram or microgram quantities, not milligram quantities," States Paula Hammond, member of MIT's Koch Institute for Integrative Cancer Research and Department of Engineering, and senior author on the paper outlining the results of the study. "You want to recruit these native adult stem cells we have in our bone marrow to go to the site of injury and then generate bone around the scaffold, and you want to generate a vascular system to go with it."

The measured release of growth factors is achieved by layering the porous scaffold with around 40 layers of BMP-2, followed by another 40 layers of PDGF. Once the layering process is complete, medical practitioners can cut out segments of the scaffold, tailoring the treatment to fit any size of wound. Furthermore, once the treatment has run its course and the bone has been regrown, the biodegradable scaffold is safely adsorbed into the body, leaving no harmful traces as a by-product of the procedure.

The scaffold has been tested in the lab by administering the treatment to rats with skull deficiencies too large to be healed without the aid of outside stimuli. It was found that the initial release of the PDGF created a healing cascade, mobilizing cells important to the rebuilding process to move to the site of the deformity. The BMP-2 then went to work inducing a number of the cells to become osteoblasts, which would go on to create the new bone.

Only two weeks after the initial transplant, it was found that fresh bone had been created that was indistinguishable in nature from the natural bone found in the surrounding areas of the skull. Looking to the future, the team hopes to test the technique on larger animals, with the long-term goal of advancing to clinical trials.

A paper covering the research carried out by the team from MIT has been published in the journal Proceedings of the National Academy of Sciences of the United States of America.

Link:
MIT scientists use polymer scaffold to stimulate bone growth

Recommendation and review posted by Bethany Smith

ROCHESTER, Minn. (KTTC) -- Medical officials are talking about a breakthrough clinical trial that could help the heart repair itself.

On Tuesday afternoon, Mayo Clinic and Cardio3 BioSciences officials outlined an FDA-approved clinical trial to be carried out in the United States. A similar trial has already been underway in Europe.

Cardio3 CEO Christian Homsy said stem cells are a major part of this heart-healing process. "What we do is take cells from a patient and we reprogram those cells to become cardiac reparative cells. Those cells have the ability to come and repair the heart." Those stem cells would come from the bone marrow of patients who suffer from heart failure.

This treatment is the result of a Mayo Clinic discovery. In Mayo's breakthrough process, stem cells that are harvested from a cardiac patient's bone marrow undergo a guided treatment designed to improve heart health in people suffering from heart failure.

Cardio3 officials said a manufacturing facility will be the first thing that is needed for this clinical trial, and the rest of the details like staffing will follow.

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Trial to use stem cells to repair heart

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