Public release date: 10-Oct-2013 [ | E-mail | Share ]

Contact: Connie Hughes connie.hughes@wolterskluwer.com 646-674-6348 Wolters Kluwer Health

Philadelphia, Pa. (October 10, 2013) "Pouchitis" developing after surgery for ulcerative colitis (UC) is associated with changes in gene expression, which increase along with disease severity, reports a study in Inflammatory Bowel Diseases, official journal of the Crohn's & Colitis Foundation of America (CCFA). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

"Gene alterations in pouch inflammation and Crohn's disease overlap, suggesting that inflammatory bowel disease is a spectrum, rather than distinct diseases," according to the new research by Dr S. Ben Shachar and colleagues of Tel Aviv University, Israel. They believe the occurrence and progression of gene changes in previously normal intestine after UC surgery provides a useful model for studying the development of inflammatory bowel disease (IBD).

After UC Surgery, Gene Expression Changes in Patients with "Pouchitis"

The researchers analyzed gene expression changes in different groups of patients who had undergone "pouch" surgery for UC. In this procedure (restorative proctocolectomy), the entire large intestine is removed and a portion of small intestine (the ileum) is used to create a reservoir, or pouch, to restore bowel function.

Up to one-fourth of patients with UC need surgery because of unmanageable disease or complications. Surgery is effective, but has a substantial rate of complicationsespecially the development of inflammation in the newly created pouch, called pouchitis.

By definition, the small intestine is normal in UCin contrast to Crohn's disease (CD), which can affect any part of the gastrointestinal tract. The development of pouchitis after UC surgery thus provides an opportunity to study the "molecular events" associated with the development of IBD in previously normal tissue.

The researchers found no significant changes in gene expression in normal samples of ileum from patients with UC. In contrast, in patients who had undergone UC surgery, nearly 170 significant changes in gene expression were found in samples of tissue from the surgically created poucheven though the tissue still appeared normal.

In patients who had developed inflammation and other signs of pouchitis, the number of gene abnormalities increased to nearly 500. For those who progressed to develop "Crohn's-like" changes of the pouch tissue, the number of gene abnormalities increased to well over 1,000. Thus as the severity of pouch disease increased, so did the number of gene expression changes.

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'Pouchitis' after ulcerative colitis surgery linked to changes in gene expression

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Newswise October 10, 2013 (BRONX, NY) Our ability to detect heat, touch, tickling and other sensations depends on our sensory nerves. Now, for the first time, researchers at Albert Einstein College of Medicine of Yeshiva University have identified a gene that orchestrates the crucially important branching of nerve fibers that occurs during development. The findings were published online today in the journal Cell.

The research focuses on dendrites, the string-like extensions of sensory nerves that penetrate tissues of the skin, eyes and other sensory organs. The formation of dendritic branchesarbors as we call themis vital for allowing sensory nerves to collect information and sample the environment appropriately, said Hannes Buelow,Ph.D., senior author of the Cell paper and associate professor of genetics at Einstein. These arbors vary greatly in shape and complexity, reflecting the different types of sensory input they receive. The loss of dendritic complexity has been linked to a range of neurological problems including Alzheimers disease, schizophrenia and autism spectrum disorders. Dr. Buelow is also associate professor in the Dominick P. Purpura Department of Neuroscience.

The Human Genome Project, completed in 2003, revealed that humans possess some 20,500 genes and determined the DNA sequence of each. But for many of those genes, their function in the body has remained unknown. The newly identified gene falls into this previously unknown function category. In fact, the gene belongs to an entire class of genes that had no known function in any organism.

One way to learn what genes do is to study a model organism like the roundworm, which possesses a similar number of genes as people but only 956 cells, of which 302 are nerve cells (neurons). By knocking out or mutating roundworm genes and observing the effects, researchers can obtain insight into how genes influence the animals structure or physiology.

The Einstein scientists were looking for genes that organize the structure of the developing nervous system. They focused on a pair of roundworm sensory neurons, known as PVD neurons, which together produce the largest web of dendrites of any neurons in the roundworma sensory web that covers almost the entire skin surface of the worm and detects pain and extreme temperatures.

Suspecting that a gene acts in the skin to instruct nearby dendrites to branch, the researchers set out to identify the one responsible. To find it, they induced random mutations in the worms, singled out those worms displaying defects in PVD dendrite branching, and then identified the gene mutations that caused the defective branching.

This lengthy procedure, known as a genetic screen, was carried out by Yehuda Salzberg, Ph.D., the studys lead author and a postdoctoral fellow in Dr. Buelows lab. The screen revealed that four mutations in the same gene caused defective branching of PVD dendrites. The researchers showed that this genes expression in the skin produces an extracellular protein that triggers normal branching of PVD dendrites during development. The dendritic branches of PVD neurons had previously been described as resembling menorahs, so the Einstein scientists named this gene mnr-1 and dubbed its protein menorin, or MNR-1.

The mnr-1 genes newly identified function in orchestrating dendrite branching is presumably not limited to roundworms. Versions of this gene are present in multicellular animals from the simplest to the most complex, including humans. Genes conserved in this way, through millions of years of evolution, tend to be genes that are absolutely necessary for maintaining life.

Further study revealed that menorin synthesized in the skin was necessary but not sufficient to prompt PVD dendrite branching. The menorin protein appears to form a complex with SAX-7/L1CAM, a well-known cell-adhesion protein found in the skin and elsewhere in the roundworm. The researchers found evidence that dendrite branching ensues when this two-protein complex is sensed by DMA-1, a receptor molecule found on growing sensory dendrites.

A fair amount was already known about factors within sensory neurons that regulate dendrite branching, said Dr. Buelow. But until now, we knew next to nothing about external cues that pattern the sensory dendrites crucial to the functioning of any of our five senses. Hopefully, our success in finding two skin-derived cues that orchestrate dendrite branching will help in identifying cues involved in other sensory organs and possibly in the brain. Finding such cues could conceivably lead to therapies for replacing dendrite arbors depleted by injury or disease.

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Previously Unstudied Gene Is Essential for Normal Nerve Development

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

Syros Pharmaceuticals, a life sciences company harnessing breakthroughs in gene control to revolutionize the treatment of cancer and other diseases, today announced the publication of new findings about the central role of recently discovered gene control regulators, called Super-Enhancers, in cell biology and disease. The research, described in the journal Cell, confirms the broad potential of Super-Enhancers, the basis of Syros' proprietary discovery and development platform as both diagnostic and therapeutic targets.1 Earlier this year, Syros completed an exclusive licensing agreement with the Whitehead Institute for intellectual property related to this gene control discovery and other gene control technologies and assets.

The new findings include an inventory of the enhancer factors that occupy Super-Enhancer domains, an overview of Super-Enhancers found in 86 cell and tissue types, the acquisition of Super-Enhancers during tumor pathogenesis and the association with DNA sequence variation in disease. They are a continuation of groundbreaking work published in a pair of papers in Cell earlier this year.2,3 Syros Co-founder Richard A. Young, Ph.D., who is a member of the Whitehead Institute for Biomedical Research and Professor of Biology at Massachusetts Institute of Technology, led the scientific team that published this research, which was supported in part by grants from the National Institutes of Health.

We find that cancer cells acquire Super-Enhancers at oncogenes and other genes that play important roles in cancer pathogenesis, thus serving as useful biomarkers for understanding an individuals cancer, said Dr. Young. In addition, we find that genetic sequence variation associated with Alzheimers disease, type I diabetes and other autoimmune diseases is especially enriched in the Super-Enhancers of disease-relevant cell types.

This work strengthens our leading platform in understanding and using Super-Enhancers for therapeutic and diagnostic applications in cancer and other disease states, said Nancy Simonian, M.D., Syros Chief Executive Officer. Modern drug discovery and development demands patient-specific linkages to disease biology from the initiation of a program through the treatment of patients. We believe that the Syros platform is well-positioned to deliver an unique advantage in this regard.

The paper, Super-Enhancers in the Control of Cell Identity and Disease, will be published in the November 7th print edition of Cell and is currently available on line by subscription.

About Syros Pharmaceuticals

Syros Pharmaceuticals is a life sciences company harnessing breakthroughs in gene control to revolutionize the treatment of cancer and other diseases. Syros proprietary platform identifies the master switches for disease genes, opening a whole new approach to novel therapeutics. Syros initial focus is in cancer, but the company platform will also be applicable to other therapeutic areas. The Companys founders are pioneers in gene control research and translation. Co-founded and backed by Flagship Ventures and ARCH Venture Partners, Syros Pharmaceuticals is located in Watertown, MA. For more information, visit http://www.syros.com.

1 Hnisz, D., Abraham, B., Lee, T., Lau, A., Saint-Andr, V., Sigova, A., Hoke, H., & Young, R. (2013). Super-enhancers in the control of cell identity and disease. Cell, 155(2).

2 Loven, J., Hoke, H., Yin, C., Lau, A., Orlando, D., Vakoc, C., Bradner, J., Lee, T. & Young, R. (2013). Selective inhibition of tumor oncogenes by disruption of super-enhancers. Cell, 153(2).

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Syros Pharmaceuticals Announces New Findings on Central Role of Super-Enhancers in Controlling Cell Biology and Disease

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Public release date: 10-Oct-2013 [ | E-mail | Share ]

Contact: Maria-Elena Torres-Padilla Maria-Elena.TORRES-PADILLA@inserm.fr INSERM (Institut national de la sant et de la recherche mdicale)

This new method will be a great step forwards to understanding the resulting processes that control gene regulation.

These results were published on October 6, 2013 on the website of the review Nature Structural & Molecular Biology.

In the cell nucleus, DNA is highly dynamic and changes its spatial configuration, in the same way as during the process of cell division. We already know that the spatial configuration of DNA determines whether the genes are active or inactive, in other words whether they are capable of expression. In this study, the researchers attempted to better understand the dynamics of the position of the genome in the nucleus in order to obtain a better overall understanding of the genome and the expression of its genes.

Visualizing gene movements using the "TGV" method

TALE proteins were first discovered in bacteria. They are proteins that bind with "artificial" DNA and are capable of targeting a specific DNA sequence in a cell. In use since 2009, this technology has up till now been used with nucleases, enzymes that are capable of accurately cutting targeted DNA. The work carried out by Maria-Elena Torres-Padilla's team consisted in using TALE technology to mark a genome sequence and visualize its movement in vivo. The researchers succeeding in merging a green fluorescent protein (mClover) with a TALE protein, which allowed them to observe the localisation of specific DNA sequences inside the nucleus of living cells. This method, known as TGV (TALE-mediated Genome Visualization) gave the expected results and allowed the marked target DNA to be monitored in real-time.

Observing what becomes of male and female genes after fertilization.

All cells in the body contain two complete sets of chromosomes, one from the mother and one from the father.

"We specifically marked chromosomes either from the father or the mother, then using TGV technology, we managed to monitor their location during the subsequent cell divisions," explains Maria-Elena Torres-Padilla, research director at Inserm and principal author of the study.

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Gene movements observed in vivo

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ALBANY, New York, October 10, 2013 /PRNewswire/ --

According to a new market report published by Transparency Market Research "Transcriptomics Technologies Market (Microarrays, PCR, Gene Regulation and Next Generation Sequencing) -Global Industry Analysis, Size, Share, Growth, Trends and Forecast, 2013-2019," the global transcriptomics technologies market was valued at USD 1.65 billion in 2012 and is expected to grow at a CAGR of 15.9% from 2013 to 2019, to reach an estimated value of USD 4.6 billion in 2019.

Browse the full report with Complete TOC athttp://www.transparencymarketresearch.com/transcriptomics-technologies-market.html

Transcriptome refers to the complete set of all coding and non-coding ribonucleic acid (RNA) molecules present in an individual or population of cells. Transcriptome accounts for about less than 5% of the total genome. Transcriptomics research refers to the study of functional and structural aspects of RNA transcripts in a given cell. This research provides insights about the gene expression and gene regulation mechanisms in normal and diseased cells such as cancerous cells. In addition it aids in identification of novel gene sequences and potential drug targets. With the increasing preference for personalized medicine and companion diagnostics, transcriptomics technologies promises increased participation of pharmaceutical and biotechnology companies in healthcare and medical research projects. The most important factors favoring growth of global transcriptomics market include consistent technological upgradation followed by increased healthcare and R&D expenditure by pharmaceutical and biotechnology companies. Also, continuous exploration of biomarkers and novel gene sequences will drive the growth and acceptance of transcriptomics technologies across the globe.

Lack of effective bioinformatics tools employed for transcriptome analysis is one of the major factors expected to hamper the ready acceptance of transcriptome analysis tools and services. In addition, lack of awareness about genomic medicine and domain expertise are the other factors which might restrain the market growth. Increased research investments made by several pharmaceutical and biotechnology companies to develop targeted therapeutics, provide a growth opportunity to the transcriptomics technologies. Currently, the trend of contract research outsourcing is advantageous for the development and commercialization of transcriptomics research outcomes.

The global transcriptomics technologies market can be categorized by technology, application and geography. RNA sequencing technologies have surpassed the usage of microarrays in drug discovery and research with increased efficiency and reliability. Transcriptomics technologies market for microarrays was the most prominent segment of the market in 2012 by revenue. However, next generation sequencing technologies are steadily surpassing the use of microarrays, owing to their higher efficiency, reliability and capabilities. Extensive research activities and technological evolution of sequencing platforms further propel adoption of next generation sequencing technologies. Another attractive segment of this market is that of gene regulation technologies such as micro RNA and RNA interference technology. These technologies regulate proper functioning of the genes in normal as well as diseased cells. It is estimated that the market for gene regulation technologies will grow at a CAGR of over 15% from 2013 to 2019.

At the regional level, North America was the largest market in 2012 for transcriptomics technologies followed by the European region. Presence of sophisticated and well infrastructured research and medical laboratories followed by increased participation of respective governments in healthcare sector will propel growth and acceptance of transcriptomics research in North American market. The Asia-Pacific region is expected to record commendable growth by 2019 due to huge untapped potential population, rising disposable income, increased healthcare investments and extensive research carried out in the biotechnology field.

Transcriptomics technologies market is characterized by the presence of established players as well as new players solely operating in this market. The major companies competing in this market are Agilent Technologies, Inc., Affymetrix, Inc., Life Technologies Corporation, Illumina, Inc., F-Hoffmann La Roche Ltd. and Thermo Fisher Scientific.

Related & Recently Published Reports by Transparency Market Research

The global transcriptomics technologies market is segmented as follows:

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Transcriptomics Technologies Market is Expected to Reach USD 4.6 Billion Globally in 2019: Transparency Market Research

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Public release date: 10-Oct-2013 [ | E-mail | Share ]

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

New Rochelle, NY, October 10, 2013People who live among the destructive environmental effects of mountaintop coal mining face an increased risk of major depression. The results of a study conducted in the coal mining regions of Central Appalachia that explored the relationship between psychological health and environmental degradation are published in Ecopsychology, a peer-reviewed, online journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Ecopsychology website.

Michael Hendryx (current affiliation Indian University, Bloomington) and Kestrel Innes-Wimsatt, West Virginia University, Morgantown, compared depressive symptoms among adults living in areas with and without mountaintop coal mining, a form of large-scale mining that uses explosives and heavy machinery to remove forests, rock and soil above coal seams, resulting in increased local air and water pollution. The authors present the relationship between these activities and the risk of mild, moderate, and severe depression in the article "Increased Risk of Depression for People Living in Coal Mining Areas of Central Appalachia."

"Vital empirical data on the importance of nature for human wellbeing are presented in this timely study," says Editor-in-Chief Peter H. Kahn, Jr., PhD, Professor, Department of Psychology and Director, Human Interaction With Nature and Technological Systems (HINTS) Lab, University of Washington, Seattle, WA.

Read this related article in Ecopsychology on mountaintop removal coal mining "The Effects of Mountaintop Removal Coal Mining on Mental Health, Well-Being, and Community Health in Central Appalachia."

###

About the Journal

Ecopsychology, published quarterly online with Open Access options, is a peer-reviewed journal that seeks to reshape modern psychology by showing that it cannot stand apart from an intimate human connection with the natural environment. We need that connection with nature to do well mentally and physically, let alone to flourish, as individuals and as a species. Against this backdrop, the Journal publishes original scientific research articles, as well as theoretical papers, case studies, nature writing, and reviews of important books and other media. Complete tables of content and a sample issue are available on the Ecopsychology website.

About the Publisher

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Increased risk of depression linked to mountaintop coal mining

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Pigeon Genetics [03] Spread
Probably the most common modifier. (Click #39;Show more #39;) The simple dominate gene that turns a blue into a black and an ash red into a lavender. Also the gene ...

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Pigeon Genetics [03] Spread - Video

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Forest Plant Genetics
Explore Research at the University of Florida: Matias Kirst, an associate professor in quantitative genetics at the University of Florida, explains how resea...

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Forest Plant Genetics - Video

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SAN DIEGO, CALIF., Oct. 10, 2013 (GLOBE NEWSWIRE) -- Genetics Policy Institute (GPI), producer of the annual World Stem Cell Summit, and Stemedica Cell Technologies, Inc., a leader in adult allogeneic stem cell manufacturing, research and clinical development, announced today that Stemedica will serve as the exclusive sponsor of the Poster Forum at the 2013 World Stem Cell Summit, December 4-6, at the Manchester Grand Hyatt San Diego. As part of its sponsorship, Stemedica has contributed $5,000 in prize money to winning posters.

Bernard Siegel, executive director of the Genetics Policy Institute (GPI) and founder and co-chair of the Summit said, "The World Stem Cell Summit is a mission-driven event uniting the global stem cell community to chart the future of regenerative medicine. The annual Poster Forum aims at presenting cutting-edge research and original ideas to move the field forward to accelerate cures. Stemedica's sponsorship of the Poster Forum evidences its commitment to growing the entire field by supporting innovation and responsible research."

"We are honored to again be associated with the World Stem Cell Summit, one of the most important meetings for the stem cell community," stated Maynard Howe, Ph.D., CEO and Vice Chairman of Stemedica. "We are committed to supporting innovation, and through Stemedica's sponsorship of the Summit and the Poster Forum prizes, we believe we can inspire novel solutions by engaging the best and brightest minds from all the disciplines touching regenerative medicine." According to Nikolai Tankovich, M.D., Ph.D., President and Chief Medical Officer of Stemedica, "This collaboration between Stemedica and the World Stem Cell Summit creates a wonderful opportunity for our company to connect with the leaders of the global stem cell community and our current and future customers. We are grateful to have this valuable platform for progress in San Diego in 2013."

The World Stem Cell Summit Poster Forum is the only interdisciplinary stem cell poster session covering all topics in regenerative medicine. Posters display today's most innovative science, leading-edge technologies, industry updates, and regulatory solutions. Attendees are welcome to submit posters in all areas of science, medicine, business, finance, regulation and law, ethics, policy, communications, and other topics related to the societal impact of stem cell research and the regenerative medicine field. Abstracts must be submitted by November 15, 2013. For topic suggestions and more information, visit http://worldstemcellsummit.com/poster-forum-information.

ABOUT THE WORLD STEM CELL SUMMIT: The World Stem Cell Summit is the flagship meeting of the international stem cell community. The Summit aims to accelerate the discovery and development of lifesaving cures and therapies, bringing global stakeholders together to solve global challenges. It builds a foundation to advance cell therapies by establishing a supportive environment of regulation, legislation, financing, reimbursement and patient advocacy. The 2013 World Stem Cell Summit will be held at the Manchester Grand Hyatt San Diego, in San Diego, California, December 4-6, 2013. It is presented by GPI and is co-organized by the California Institute for Regenerative Medicine, Mayo Clinic, Scripps Research Institute, Sanford-Burnham Medical Research Institute, and Kyoto University Institute for Integrated Cell-Material Sciences (iCeMS). For more information, visit http://www.worldstemcellsummit.com.

ABOUT GPI: The Genetics Policy Institute (GPI) supports stem cell research to develop therapeutics and cures. GPI pursues its mission by producing the World Stem Cell Summit, honoring community leaders through the Stem Cell Action Awards, publishing the World Stem Cell Report, organizing educational initiatives and fostering strategic collaborations. For more information about GPI, visit http://www.genpol.org.

ABOUT STEMEDICA CELL TECHNOLOGIES, INC.: Stemedica Cell Technologies, Inc. is a specialty bio-pharmaceutical company committed to the manufacturing and development of best-in-class allogeneic adult stem cells and stem cell factors for use by approved research institutions and hospitals for pre-clinical and clinical (human) trials. The company is a government licensed manufacturer of clinical grade stem cells and is approved by the FDA for its Phase II clinical trials for ischemic stroke, acute myocardial infarct, and cutaneous photoaging. Stemedica is currently developing regulatory pathways for a number of other medical indications using adult allogeneic stem cells. The company is headquartered in San Diego, California.

A photo accompanying this release is available at: http://www.globenewswire.com/newsroom/prs/?pkgid=21471

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World Stem Cell Summit Poster Forum Prizes Sponsored by Stemedica

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Gene therapy: Sean Ainsworth at TEDxKalamazoo
In the spirit of ideas worth spreading, TEDx is a program of local, self-organized events that bring people together to share a TED-like experience. At a TED...

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Gene therapy: Sean Ainsworth at TEDxKalamazoo - Video

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Muscular Dystrophy #9: How Can We Pay For Gene Therapy of MD?
Jeff Chamberlain, PhD and Bruce Ransom, MD, PhD of The University of Washington drill down on the realities of what it would cost to take the AAV gene therap...

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Muscular Dystrophy #9: How Can We Pay For Gene Therapy of MD? - Video

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Johns Hopkins Medicine Media Relations and Public Affairs

JOHNS HOPKINS MEDICINE NEWS TIPS FROM THE 2013 ANNUAL CLINICAL CONFERENCE OF THE AMERICAN COLLEGE OF SURGEONS, OCT. 6-10, WASHINGTON, D.C.

GENE AND STEM CELL THERAPY COMBINATION COULD AID WOUND HEALING

--Findings in elderly mice offer insight into helping elderly people recover from burns

Newswise Johns Hopkins researchers, working with elderly mice, have determined that combining gene therapy with an extra boost of the same stem cells the body already uses to repair itself leads to faster healing of burns and greater blood flow to the site of the wound.

Their findings offer insight into why older people with burns fail to heal as well as younger patients, and how to potentially harness the power of the bodys own bone marrow stem cells to reverse this age-related discrepancy.

As we get older, it is harder for our wounds to heal, says John W. Harmon, M.D., a professor of surgery at the Johns Hopkins University School of Medicine, who will present his findings to the American College of Surgeons Surgical Biology Club on Sunday at 9 a.m. Our research suggests there may be a way to remedy that.

To heal burns or other wounds, stem cells from the bone marrow rush into action, homing to the wound where they can become blood vessels, skin and other reparative tissue. The migration and homing of the stem cells is organized by a protein called Hypoxia-Inducible Factor-1 (HIF-1). In older people, Harmon says, fewer of these stem cells are released from the bone marrow and there is a deficiency of HIF-1. The protein was first discovered about 15 years ago at Johns Hopkins by Gregg L. Semenza, M.D., Ph.D., one of Harmons collaborators.

Harmon and his colleagues first attempted to boost the healing process in mice with burn wounds by increasing levels of HIF-1 using gene therapy, a process that included injecting the rodents with a better working copy of the gene that codes for the protein. That had worked to improve healing of wounds in diabetic animals, but the burn wound is particularly difficult to heal, and that approach was insufficient. So they supplemented the gene therapy by removing bone marrow from a young mouse and growing out the needed stem cells in the lab. When they had enough, they injected those supercharged cells back into the mice.

After 17 days, there were significantly more mice with completely healed burns in the group treated with the combination therapy than in the other groups, Harmon says. The animals that got the combination therapy also showed better blood flow and more blood vessels supplying the wounds.

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Gene and Stem Cell Therapy Combination Could Aid Wound Healing

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Public release date: 9-Oct-2013 [ | E-mail | Share ]

Contact: Scott LaFee slafee@ucsd.edu 619-543-6163 University of California - San Diego

A research team, headed by Theodore Friedmann, MD, professor of pediatrics at the University of California, San Diego School of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer's, Parkinson's and Huntington's diseases.

The findings, published in the October 9, 2013 issue of the journal PLOS ONE, provide the first experimental picture of how gene expression errors impair the ability of stem cells to produce normal neurons, resulting instead in neurological disease. More broadly, they indicate that at least some distinctly different neurodevelopmental and neurodegenerative disorders share basic, causative defects.

The scientists say that understanding defects in Lesch-Nyhan could help identify errant processes in other, more common neurological disorders, perhaps pointing the way to new kinds of therapies.

Lesch-Nyhan syndrome is caused by defects in the HPRT1 gene (short for hypoxanthine guanine phosphoribosyltransferace, the enzyme it encodes), a gene that is well-known for its essential "housekeeping duties," among them helping generate purine nucleotides the building blocks of DNA and RNA.

Mutations in the gene result in deficiencies in the HPRT enzyme, leading to defective expression of the neurotransmitter dopamine and subsequent abnormal neuron function. HPRT mutation is known to be the specific cause of Lesch-Nyhan, an inherited neurodevelopmental disorder characterized by uncontrollable repetitive body movements, cognitive defects and compulsive self-mutilating behaviors. The disorder was first described in 1964 by medical student Michael Lesch and his mentor, William Nyhan, MD, professor emeritus at UC San Diego School of Medicine.

Using mouse embryonic stem cells modified to be HPRT-deficient, Friedmann and colleagues discovered that the cells do not develop normally. Instead, they differentiate from full-fledged neurons into cells that resemble and partially function as neurons, but also perform functions more typical of glial cells, a kind of supporting cell in the central nervous system. In addition, they noted that HPRT deficiency causes abnormal regulation of many cellular functions controlling important operational and reproduction mechanisms, DNA replication and repair and many metabolic processes.

"We believe that the neural aberrations of HPRT deficiency are the consequence of these combined, multi-system metabolic errors," said Friedmann. "And since some of these aberrations are also found in other neurological disorders, we think they almost certainly play some role in causing the neurological abnormalities in diseases like Alzheimer's, Parkinson's, Huntington's and possibly others. That makes them potential therapeutic targets for conditions that currently have limited or no treatments, let alone cures."

The task now is to further parse and better understand the many pathways that cause abnormal brain and brain cell development, and how those pathways are also disturbed in other neurological disorders. Those defects will probably not affect HPRT directly, said Friedmann, but rather will correspond to some of the same metabolic and genetic errors that occur as a result of HPRT deficiency. Once those pathways are identified, they may become good targets for more effective forms of therapy.

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Single gene mutation linked to diverse neurological disorders

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Washington, Oct. 9 (ANI): A new research has found that sunscreen when applied properly can prevent three types of skin cancer and protect the superhero gene p53, which works to repair sun-damaged skin.

According to researchers, sunscreen provides 100 per cent protection against all three forms of skin cancer: BCC (basal cell carcinoma); SCC (squamous cell carcinoma); and malignant melanoma.

Lead researcher Dr Elke Hacker, from QUT's AusSun Research Lab, said sunscreen also shielded the important p53 gene, a gene that works to prevent cancer.

She said that as soon as our skin becomes sun damaged, the p53 gene goes to work repairing that damage and thereby preventing skin cancer occurring, but over time if skin gets burnt regularly the p53 gene mutates and can no longer do the job it was intended for - it no longer repairs sun damaged skin and without this protection skin cancers are far more likely to occur.

The study looked at the impact of sunlight on human skin, both with and without sunscreen, and found no evidence of UV-induced skin damage when proper application of sunscreen (SPF30+) had been applied to exposed area.

The study has been published in the Pigment Cell and Melanoma Research journal. (ANI)

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Sunscreen protects sun-damaged skin repairing 'superhero' gene

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Gene Munster, Senior Research Analyst at Piper Jaffray, reports that teens are overwhelmingly buying Apple products. What does that mean for Apple in the long-run?

Kids these days are said to show no brand allegiance. But when it comes to the Apple, teens are fiercely loyal fans, according to new research by one noted analyst. As the new iPad is set for its debut on October 22, is Apple a long-term generational play?

Gene Munster, Senior Research Analyst at Piper Jaffray, is one of the best-known Apple analysts. He and his team recently conducted a survey of 8,643 teenagers about what kind of mobile phone and tablet devices they use. The winner was Apple by wide margin.

(Read: Julian Robertson sells Apple because Steve Jobs was 'mean')

Teen ownership of iPhones has gone from 40% in the fall of 2012 to 55% today. That number is expected to grow as 65% of teens expect their next phone to be an iPhone.

When it comes to teen ownership of table devices, Apple trounces its competition. While 44% of teens don't own tablets, the ones that do emphatically choose the iPad; 68% own an iPad (60% have the full-sized version while 8% have the iPad mini). Of those that plan on buying a tablet in the next six month, 64% say they want an Apple product.

(Read: Forget the iPhone 5S, let's talk about the iPhone 6)

Now Apple is expected to release its latest iPad, a thinner version of its previous full-sized models with an A7X processor, its newest. It may even include a fingerprint scanner like the ones found in the latest iPhones, according to Current Editorials.

What does this all mean for Apple's stock? We talk numbers with Gene Munster on his research and the expected new iPad.

To see what Gene Munster has to say on Apple's future, watch the video above.

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This is good for Apple’s long-term growth: Munster

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Public release date: 9-Oct-2013 [ | E-mail | Share ]

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

New Rochelle, NY, October 9, 2013A national survey has found that uterine fibroids have a disproportionate impact on African American women, causing more severe symptoms, interfering with their daily life, and causing them to miss work. These new findings are reported 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 at http://www.liebertpub.com/jwh.

African American women have a 3-fold higher incidence of uterine fibroids and tend to have them at an earlier age. In "The Burden of Uterine Fibroids for African American Women: Results of a National Survey," authors Elizabeth Stewart, MD, Wanda Nicholson, MD, MPH, MBA, Linda Bradley, MD, and Bijan Borah, PhD, Mayo Clinic and Mayo Medical School, Rochester, MN, University of North Carolina School of Medicine, Chapel Hill, and Cleveland Clinic, OH, describe the symptoms, concerns, and quality of life issues African American women are more likely to face than are other women with uterine fibroids.

Early intervention to reduce the high risk of hysterectomy and preserve the fertility of this disproportionately affected group of women should be considered, proposes Gloria Richard-Davis, MD, University of Arkansas Medical Sciences, Little Rock, AR, in the accompanying Editorial, "Uterine Fibroid: The Burden Borne by African American Women."

"Uterine fibroids are a major source of morbidity for reproductive-aged women, and this is especially true for African American 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.

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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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New study shows uterine fibroids have greater impact in African-American women

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Will Martin, with his mother, Lori. Will was 2 when Lori learned he was born with Leigh's Syndrome, a progressive genetic condition. So far it's given him low muscle tone and some difficulty with speech.

Mark Sauer of the Columbia University Medical Center, a member of one of two teams of U.S. scientists pursuing the research, calls the effort to prevent infants from getting devastating genetic diseases "noble." Sauer says the groups are hoping "to cure disease and to help women deliver healthy, normal children."

But the research also raises a variety of concerns, including worries it could open the door to creating "designer babies." The Food and Drug Administration has scheduled an Oct. 22 hearing to consider the issues.

Specifically, the research would create an egg with healthy mitochondrial DNA (mtDNA). Unlike the DNA that most people are familiar with the 23 pairs of human chromosomes that program most of our body processes mtDNA is the bit of genetic material inside mitochondria, living structures inside a cell that provide its energy.

Scientists estimate that 1 in every 200 women carries defects in her mtDNA. Between 1 in 2,000 and 1 in 4,000 babies may be born each year with syndromes caused by these genetic glitches; the syndromes range from mild to severe. In many cases, there is no treatment, and the affected child dies early in life.

Lori Martin, 33, of Houston, found out her son, Will, was born with the mitochondrial disease known as Leigh's syndrome, when he was about 2 years old.

"The experience of being told that your son is basically going to die and you don't know when or how, but it's obviously life-changing, and it completely wrecks your world," Martin says.

Martin and her husband are trying to help Will live as long and as happy a life as they can. And they want more kids. But her doctor advised against it.

"Since I am a carrier, I've been told it's recommended I do not have any more biological children using my eggs," Martin says. "It's a really devastating blow to be told not to have more children."

The proposed research might help Martin and women like her.

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Proposed Treatment To Fix Genetic Diseases Raises Ethics Issues

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8 hours ago

Somewhere between the ideas of resurrecting extinct species and engaging in genetic engineering of existing ones lies space for a conversation about a third potential approach to fending off conservation disaster.

"Facilitated adaptation" is the name given this concept, and the suggestion to talk about it comes in part from Brett Dickson, assistant research professor at Northern Arizona University.

As coauthor of a comment piece in Nature, Dickson helps bring the topic to the forefront of scientific discussion. As a researcher, his dual affiliation and multiple pursuits illustrate the complexity of proactively facing the potential loss of 40 percent of species by 2050.

At NAU, Dickson directs the Lab of Landscape Ecology and Conservation Biology in the Landscape Conservation Initiative. But he is also president and chief scientist of Conservation Science Partners, a nonprofit organization that brings together experts in various disciplines to address conservation issues such as habitat fragmentation, landscape connectivity and the spread and distribution of infectious diseases across animal populations.

Considering the looming loss of species, Dickson said it is surprising that facilitated adaptationessentially, taking a genetically proactive approach to improve the prospects of a particular animal populationhas not gotten much attention.

"My colleagues and I thought this would be a compelling idea ready for debate, although it's not necessarily ready to be put immediately into widespread practice," Dickson said.

Rather than taking the "very challenging" step of physically moving animal populations threatened by climate change, which has been tried with mixed success, facilitated adaptation entails "moving adaptive alleles from one population to another," Dickson said. Alleles determine traits (such as a thick coat of hair versus thin in mammals). So traits that bolster a well-adapted population of a particular species could be transferred to a population under stress.

From a technical standpoint, Dickson said, the science is already being demonstrated with genetically modified organisms in the plant world. Although facilitated adaptation does not go as far as genetic engineering, the Nature coauthors agree that even such a mitigated step would be drastic, with profound ethical implications.

"If we feel strongly as a society this is something we should explore, then perhaps piloting a program would be warranted," Dickson said, with a caveat: "Facilitated adaptation should not be considered a substitute for preventing the loss of habitats or the species that depend on them."

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Impending species loss opens 'compelling' genetic discussion

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Oct. 9, 2013 Using mice, lab-grown cells and clues from a related disorder, Johns Hopkins researchers have greatly increased understanding of the causes of systemic sclerosis, showing that a critical culprit is a defect in the way certain cells communicate with their structural scaffolding. They say the new insights point the way toward potentially developing drugs for the disease, which affects approximately 100,000 people in the United States.

"Until now we've had little insight and no effective treatment strategies for systemic sclerosis, and many patients die within a year of diagnosis," says Hal Dietz, M.D., the Victor A. McKusick Professor of Genetics and Medicine in the Johns Hopkins' Institute of Genetic Medicine, director of the Smilow Center for Marfan Syndrome Research at Johns Hopkins and Howard Hughes Medical Institute investigator. "Our group created mouse models that allowed us to learn about the sequence of events that leads to the disease's symptoms, and we hope drugs can be developed that target one or more of these events." The Dietz team's results are described in the Oct. 10 issue of Nature.

Patients with systemic sclerosis, also known as systemic scleroderma, experience a sudden hardening, or fibrosis, of the skin. For some patients, this hardening occurs only in limited areas, but for others, it quickly spreads across the body and to organs such as the heart, intestines and kidneys. It is this fibrosis of the internal organs that is often fatal.

Systemic sclerosis rarely runs in families, Dietz says, making the gene for the disease, if it exists, very difficult to find. Without a known genetic mutation, researchers had not been able to create a genetically altered mouse with which to study the condition. But Dietz's group was struck by the similarities between systemic sclerosis and a less severe, much rarer condition called stiff skin syndrome (SSS), which does run in families, and they suspected that learning more about SSS would also shed light on systemic sclerosis.

In a previous experiment , they pinpointed the genetic mutation responsible for SSS in a gene for a protein called fibrillin-1, which plays a role in other connective tissue disorders. In certain types of tissues, including skin, fibrillin-1 helps make up the scaffolding for cells. The specific changes in fibrillin-1 seen in SSS patients were predicted to impair the ability of cells to make contact with fibrillin-1 through bridging molecules called integrins.

In the current study, M.D./Ph.D. student Elizabeth Gerber created a line of mice with a genetic variant similar to that found in SSS patients. To test the group's hypothesis, Gerber also created a line of mice with a variant the team knew would prevent fibrillin-1 from interacting with integrin. As the team expected, both groups of mice developed patches of stiff skin, along with elevated levels of proteins and cells involved in the immune response -- much like humans with SSS or systemic sclerosis. "It seemed we were right that the SSS mutation causes the condition by blocking fibrillin's interaction with integrin," Dietz says. "Something else we found was that both types of mice had high levels of integrin in their skin, which made us think their cells were trying to compensate for the lack of fibrillin-integrin interaction by making more and more integrin."

This still left open the question of what was ultimately causing fibrosis, however: Was it the integrin levels or the immune response? Dietz's group delved deeper into the question by creating mice that had both the SSS mutation and artificially low levels of integrin, and found that the mice never developed fibrosis or an abnormal immune response. "They looked normal," Dietz says.

The team next tried waiting until mice with the SSS mutation had developed fibrosis, then treating them with a compound known to block a key molecule with known connections to both fibrosis and the immune response. This reversed the mice's skin fibrosis and immunologic abnormalities. The team also tested the compounds on lab-grown human skin cells with systemic sclerosis, with the same results. This raises the possibility that systemic sclerosis patients could eventually be treated with similar compounds in humans, Dietz says. A number of the compounds that proved effective in SSS mice and systemic sclerosis cells are currently being explored by drug companies for the treatment of other conditions, prominently including cancer.

The results raised another big question for the team: Which of the several types of skin cells were responsible for the runaway immune response and fibrosis? They traced the activity to so-called plasmacytoid dendritic cells, or pDCs, a cell type known to either tamp down or ramp up immune response, depending on the circumstances.

"Dietz's work gives scleroderma patients hope that we have gained fundamental insights into the process of fibrosis in scleroderma. In particular, I am confident that within a relatively short time, novel therapies can be tested in patients, and I am optimistic that such treatments will have a profound effect," says Luke Evnin, Ph.D., chairman of the board of directors of the Scleroderma Research Foundation and a scleroderma patient.

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Likely causes and treatment strategies for systemic scleroderma identified

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MONTREAL, Oct. 9, 2013 /PRNewswire/ - Hundreds of researchers from North America, Europe, Australia and Asia have joined together in a consortium to identify the genetic basis of the five most common forms of cancer - breast, prostate, lung, ovarian and colorectal. The group, called the OncoArray Consortium, developed a new customized genotyping tool - the OncoArray - manufactured by the U.S. genomics firm Illumina, Inc.

"The U.S. National Cancer Institute (NCI)-funded Genetic Associations and Mechanisms of Oncology (GAME-ON) initiative has been instrumental in bringing together multiple consortia and provides primary funding for the OncoArray Consortium. It allowed us to design a custom array that incorporates some 530,000 markers, which is planned for genotyping on over 425,000 samples from patients with one of the five types of cancer and control subjects from around the world. The sheer size of the sample is unprecedented for a study on the genetic factors involved in cancer. The OncoArray Consortium's work will provide insight into the inherited genetic basis of cancer and help scientists understand the underlying biology of cancer," explained Professor Christopher Amos, Head of Dartmouth's Center for Genomic Medicine, in the US, and the leader of the Lung Cancer consortium.

This project is a direct extension of the work that has been achieved in recent years through the Collaborative Oncological Gene-Environment Study (COGS). "The OncoArray will allow us to enhance our current understanding of the genetic factors associated with the risk of multiple cancers," explained Cancer Research UK funded Professor Douglas Easton of University of Cambridge (United Kingdom). "We are proud to be involved in this international initiative, which will significantly accelerate the pace of discovery and lead to a greater understanding of a disease that affects one in three people," he continued.

About 200 studies are involved in this project and nearly 50 countries participate in the consortium.

Breast cancer samples will represent more than one-third of the samples under analysis. "This is the largest number of samples ever used for research into the genetic basis of breast cancer risk," noted Universit Laval Professor Jacques Simard, who works at the Genomics Centre of the CHU de Qubec Research Centre, and chair holder of the Canada Research Chair in Oncogenetics. Qubec is at the forefront of this study, since the results will be used for a Qubec-based project aiming to improve the early detection of breast cancer, an initiative funded by Gnome Qubec, Genome Canada, the CIHR and the Qubec Breast Cancer Foundation. "The work of Professor Jacques Simard will broaden our current understanding of this terrible disease, leading to better risk stratification tools that will increase our ability to deliver better-targeted screening services to those women at higher risk," said Marc LePage, President and CEO of Gnome Qubec.

Leading efforts in prostate cancer are Brian Henderson and Ros Eeles. "The OncoArray will provide fresh clues to the origin of these cancers and will hasten novel approaches to prevention and treatment," Dr. Henderson said. "Every year 220,000 men in the US are diagnosed with prostate cancer, and there are 30,000 deaths. This indicates many people are being treated who don't need it. We hope this product will help us focus on the men who have the highest risk to the more fatal forms of this disease."

"This new research consortium will give us a fantastic opportunity to look at huge numbers of gene variants in prostate cancer patients across the world, helping expand our knowledge of the genetic basis of this disease," said Ros Eeles, Professor of Oncogenetics at The Institute of Cancer Research, London, which along with the University of Cambridge.

Leading efforts in colorectal cancer is Kenneth T. Norris Jr. Chair in Cancer Prevention, Keck Medicine of USC, and Stephen Gruber, director, USC Norris Comprehensive Cancer Center, Keck Medicine of USC. Leading efforts in breast cancer on behalf of the US NCI are David J. Hunter, Dean for Academic Affairs, Harvard School of Public Health; for ovarian cancer the US NCI leader is Tom Sellers, Director of the Moffit Cancer Center in Florida. In addition, the Consortium of Investigators of Modifiers of BRCA1/2, led by Georgia Chenevix-Trench, will genotype the OncoArray on about 30,000 women and men who carry mutations in the BRCA1 or BRCA2 genes.

The project is funded through major grants from the U.S. National Cancer Institute to the GAME-ON initiative and the Division of Cancer Epidemiology and Genetics; Genome Canada/Gnome Qubec/CIHR/Qubec Breast Cancer Foundation through the Personalized Risk Stratification for Prevention and Early Detection of Breast Cancer; Cancer Research UK (Cambridge University and The Institute of Cancer Research); Movember and Prostate Cancer UK (The Institute of Cancer Research) and EU's FP7 grant program (COGS), together with many other partners.

Link:
New Discoveries for Cancer Risk: Researchers Worldwide Take Part in one of History's Largest Scientific Consortium

Recommendation and review posted by Bethany Smith

This micrograph shows a single mitochondrion (yellow), one of many little energy factories inside a cell.

The federal government is considering whether to allow scientists to take a controversial step: make changes in some of the genetic material in a woman's egg that would be passed down through generations.

Mark Sauer of the Columbia University Medical Center, a member of one of two teams of U.S. scientists pursuing the research, calls the effort to prevent infants from getting devastating genetic diseases "noble." Sauer says the groups are hoping "to cure disease and to help women deliver healthy, normal children."

But the research also raises a variety of concerns, including worries it could open the door to creating "designer babies." The Food and Drug Administration has scheduled an Oct. 22 hearing to consider the issues.

Specifically, the research would create an egg with healthy mitochondrial DNA (mtDNA). Unlike the DNA that most people are familiar with the 23 pairs of human chromosomes that program most of our body processes mtDNA is the bit of genetic material inside mitochondria, living structures inside a cell that provide its energy.

Scientists estimate that 1 in every 200 women carries defects in her mtDNA. Between 1 in 2,000 and 1 in 4,000 babies may be born each year with syndromes caused by these genetic glitches; the syndromes range from mild to severe. In many cases, there is no treatment, and the affected child dies early in life.

Lori Martin, 33, of Houston, found out her son, Will, was born with a genetic malady known as Leigh's syndrome, when he was about 2 years old. The progressive illness was linked to genetic problems in his mitochondria.

Will Martin, with his mother, Lori. Will was 2 when Lori learned he was born with Leigh's syndrome, a progressive genetic condition. So far it's given him low muscle tone and some difficulty with speech.

Will Martin, with his mother, Lori. Will was 2 when Lori learned he was born with Leigh's syndrome, a progressive genetic condition. So far it's given him low muscle tone and some difficulty with speech.

"The experience of being told that your son is basically going to die and you don't know when or how, but it's obviously life-changing, and it completely wrecks your world," Martin says.

Original post:
Proposed Treatment To Fix Genetic Diseases Raising Ethics Issues

Recommendation and review posted by Bethany Smith

This micrograph shows a single mitochondrion (yellow), one of many little energy factories inside a cell.

The federal government is considering whether to allow scientists to take a controversial step: make changes in some of the genetic material in a woman's egg that would be passed down through generations.

Mark Sauer of the Columbia University Medical Center, a member of one of two teams of U.S. scientists pursuing the research, calls the effort to prevent infants from getting devastating genetic diseases "noble." Sauer says the groups are hoping "to cure disease and to help women deliver healthy, normal children."

But the research also raises a variety of concerns, including worries it could open the door to creating "designer babies." The Food and Drug Administration has scheduled an Oct. 22 hearing to consider the issues.

Specifically, the research would create an egg with healthy mitochondrial DNA (mtDNA). Unlike the DNA that most people are familiar with the 23 pairs of human chromosomes that program most of our body processes mtDNA is the bit of genetic material inside mitochondria, living structures inside a cell that provide its energy.

Scientists estimate that 1 in every 200 women carries defects in her mtDNA. Between 1 in 2,000 and 1 in 4,000 babies may be born each year with syndromes caused by these genetic glitches; the syndromes range from mild to severe. In many cases, there is no treatment, and the affected child dies early in life.

Lori Martin, 33, of Houston, found out her son, Will, was born with a genetic malady known as Leigh's syndrome, when he was about 2 years old. The progressive illness was linked to genetic problems in his mitochondria.

Will Martin, with his mother, Lori. Will was 2 when Lori learned he was born with Leigh's syndrome, a progressive genetic condition. So far it's given him low muscle tone and some difficulty with speech.

Will Martin, with his mother, Lori. Will was 2 when Lori learned he was born with Leigh's syndrome, a progressive genetic condition. So far it's given him low muscle tone and some difficulty with speech.

"The experience of being told that your son is basically going to die and you don't know when or how, but it's obviously life-changing, and it completely wrecks your world," Martin says.

Read more:
Proposed Treatment To Fix Genetic Diseases Raises Ethical Issues

Recommendation and review posted by Bethany Smith

PHILADELPHIA D. Gary Gilliland, MD, PhD, has been named the inaugural Vice Dean and Vice President for Precision Medicine, a newly created role to position Penn Medicine as the nations top leader in the delivery of individualized medicine.

Dr. Gilliland, a cancer genetics expert and pioneer in the development of targeted therapies, will synthesize Penn Medicines research and clinical care initiatives across all disciplines to create a national model for the delivery of precise, personalized medicine to patients with diseases of all kinds. He will work with the institutions top leaders in cancer, heart and vascular medicine, neurosciences, genetics, pathology, and many other specialties.

We are proud to be among the first institutions in the country to create a position to oversee the tremendous opportunities and challenges that face us as our physicians and scientists work to hone the promise of the burgeoning and exciting field of precision medicine, says J. Larry Jameson, MD, PhD, Executive Vice President of the University of Pennsylvania for the Health System and Dean of the Perelman School of Medicine. Dr. Gillilands experience as a leader in both academic medicine and the pharmaceutical industry will help Penn Medicine forge a roadmap for the most effective and efficient ways to conduct research and deliver care in this new field.

The establishment of the new role builds on such existing Penn Medicine efforts as the Institute for Translational Medicine and Therapeutics and the newly launched Center for Personalized Diagnostics.

Penn Medicine already has a strong base in this new field, and Dr. Gillilands background and accomplishments will provide experienced leadership to take us to the next level of excellence, says Ralph W. Muller, Chief Executive Officer of the University of Pennsylvania Health System. No matter what its called precision medicine, personalized medicine, or individualized medicine this extremely promising approach will better equip physicians to match the most effective treatment to each patients specific disease.

Gilliland joins Penn Medicine from Merck, where he was recruited in 2009 as Senior Vice President of Merck Research Laboratories and Oncology Franchise Head, following a long career at Harvard Medical School. At Merck, he was responsible for end-to-end research and development of its Global Oncology Programs. He oversaw first-in-human studies, proof-of-concept trials, and Phase II/III registration trials, and managed all preclinical and clinical oncology licensing activities.

Prior to joining Merck, Gilliland was a member of the faculty at Harvard Medical School for nearly 20 years, where he served as Professor of Medicine and a Professor of Stem Cell and Regenerative Biology. He was also an Investigator of the Howard Hughes Medical Institute, Director of the Leukemia Program at the Dana-Farber/Harvard Cancer Center, and Director of the Cancer Stem Cell Program of the Harvard Stem Cell Institute.He saw patients at numerous top Boston hospitals, serving as an attending physician in the Bone Marrow Transplant Service of Childrens Hospital; attending physician in medical oncology at Dana-Farber Cancer Institute; and senior attending physician at Brigham and Womens Hospital.

As an investigator studying hematologic malignancies, Gilliland made seminal discoveries that have contributed to the understanding of the genetic basis of leukemias and other cancers that affect the blood and bone marrow. He has worked to help apply these findings into the development of new investigational cancer treatments, including molecularly targeted therapies, and has advanced this research into all phases of clinical development.

His work has earned him numerous honors, including the William Dameshek Prize from the American Society of Hematology, the Emil J. Freireich Award from the MD Anderson Cancer Center, and the Stanley J. Korsmeyer Award from the American Society for Clinical Investigation. He is an elected member of the America Society for Clinical Investigation and the American Association of Physicians.

He received his Ph.D. in Microbiology from the University of California, Los Angeles, and his M.D. from the University of California, San Francisco. He completed his internship and residency, including serving as Chief Medical Resident, at Brigham and Women's Hospital, Harvard Medical School. He completed his Hematology and Medical Oncology training at the Brigham and Womens Hospital and the Dana-Farber Cancer Institute, respectively.

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Penn Medicine Names First Leader of Precision Medicine to Speed Delivery of Tailored Treatments to Patients

Recommendation and review posted by Bethany Smith

SALT LAKE CITY, Oct. 9, 2013 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN) today announced it will present data showing the high prevalence and overlap between hereditary colon cancer and hereditary breast and ovarian cancer in patients previously diagnosed with endometrial and ovarian cancer. Myriad is presenting this data and another hereditary cancer study at the 2013 National Society of Genetic Counselors annual meeting in Anaheim, California.

"Myriad is committed to advancing the scientific understanding of hereditary cancers and developing innovative diagnostic tests to benefit a broad range of cancer patients," said Richard J. Wenstrup, chief medical officer of Myriad. "Our data show there is both a high prevalence and overlap of hereditary cancer syndromes in patients with endometrial and ovarian cancers, which supports the use of myRisk Hereditary Cancer testing to accurately diagnose patients and select appropriate medical management."

Key data being presented at the NSGC annual meeting include:

Prevalence of Lynch Syndrome and HBOC among Patients with Primary Endometrial and Primary Ovarian Cancers [Raymond et al., Oct. 11, 2013 2:45 -- 3:00 p.m.]

This study assessed the prevalence of hereditary colon cancer and hereditary breast and ovarian cancer in patients with both primary endometrial and ovarian cancer. Under current National Comprehensive Cancer Network guidelines these patients would meet the medical criteria for both hereditary breast and ovarian cancer testing and hereditary colon cancer testing. Results showed that among 1,529 patients evaluated, 11.2 percent had a deleterious mutation with 73.3 percent of the mutations in hereditary colon cancer genes and 26.7 percent in hereditary breast cancer genes. Although the prevalence of hereditary colon cancer was higher than hereditary breast cancer in patients with endometrial and ovarian cancers, these patients showed a strong family history overlap between the two syndromes. The findings suggest these patients would be appropriate candidates for testing with a hereditary cancer panel to prevent a missed diagnosis of hereditary cancer.

Prevalence of Lynch Syndrome Mutations in Patients with Colorectal and Endometrial Cancer Based on Decade of Diagnosis [Mendonca et al., Oct. 11, 2013 12:45 -- 1:45 p.m.]

This study evaluated the prevalence of deleterious mutations in patients with colorectal and endometrial cancer based on a decade of diagnosis. Data was obtained from 20,000 patients with colorectal cancer and/or endometrial cancer. The deleterious mutation rate was analysed based on the age of diagnoses. Colorectal cancer patients diagnosed in their 40s had an 11.5 percent mutation rate and patients diagnosed in their 50s saw a 10.9 percent mutation rate, while patients in their 60s experienced a still very high 8.3 percent mutation rate. Although hereditary colon cancer is associated with onset at an earlier age, these data show the importance of genetic testing for deleterious mutations in all patients, regardless of their age at diagnosis.

Additionally, Myriad scientists will participate in the following highlighted symposia:

About Myriad Genetics

Myriad Genetics is a leading molecular diagnostic company dedicated to making a difference in patients' lives through the discovery and commercialization of transformative tests to assess a person's risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence. Myriad's portfolio of molecular diagnostic tests is based on an understanding of the role genes play in human disease and was developed with a commitment to improving an individual's decision making process for monitoring and treating disease. Myriad is focused on strategic directives to introduce new products, including companion diagnostics, as well as expanding internationally. For more information on how Myriad is making a difference, please visit the Company's website at: http://www.myriad.com and our social media channels: Twitter and Facebook.

Read more here:
Myriad Genetics Study Highlights Importance of myRisk(TM) Hereditary Cancer Testing

Recommendation and review posted by Bethany Smith

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IBM is going through gene therapy, and by that we don't mean an expensive course of Freudian analysis for its Blue Gene/Q supercomputer, but rather a wholesale change in how the company approaches cloud computing.

The bout of "gene therapy" is due to IBM's buy of bare-metal cloud specialist SoftLayer in June, Mac Devine, CTO of IBM's cloud services division, told El Reg.

The acquisition is leading to major changes in how the company approaches the cloud sector: Big Blue is splicing its existing tech into SoftLayer and vice versa, and the resulting gear was announced on Tuesday.

These changes should let IBM "alter the DNA" of the way in which it approaches cloud technology, Devine said.

To that end, IBM is starting to move cloud products over to infrastructure hosted on SoftLayer. The first such move is IBM's "Social Learning Platform", which is a cloud-based technology platform for sharing videos and other information between institutions such as hospitals.

"When you move from a different type of software development approach to a cloud-first approach you have to be willing to get things out quickly," Devine said. "One of the things that was attractive about SoftLayer [was] when they go to deploy a new service if they couldn't 100 per cent automate the configuration and operations... they wouldn't deploy."

This is a very different approach to the technologies IBM had put in place with much of its prior SmartCloud portfolio, Devine admitted. "Softlayer is the center of gravity of all of our cloud strategy," Devine said. "We believe that we need to adapt the processes and ways we did traditional business."

IBM is also planning to upgrade SoftLayer, he said, by tearing off the provisioning and infrastructure components of SmartCloud and injecting them into SoftLayer's systems.

It has already done part of this by combining SoftLayer and SmartCloud technologies in another bid for a strategically important $600m IBM cloud contract with the CIA, which Big Blue is battling Amazon for. (A judge ruled on Monday that Amazon's spook cloud may still go ahead, but IBM is appealing that decision.)

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IBM checks itself into therapy after touting Frankencloud to the CIA

Recommendation and review posted by Bethany Smith