Archive for the ‘Gene Therapy Research’ Category

Tamil Nadu Agricultural University Protein Data Base-TNAU PDB
TNAU PDB is an open accessible database that focuses on proteome of various organisms. It is a data repository of various biotic and abiotic stress related p...

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Tamil Nadu Agricultural University Protein Data Base-TNAU PDB - Video

Public release date: 17-Sep-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NYMary Ann Liebert, Inc., publishers has introduced a preview issue of MOOCs Forum, a new publication dedicated to the development and sustainability of Massive Open Online Courses (MOOCs). The burgeoning coverage of MOOCs in the press extols their potential. But within the communities of education, industrial learning, developers, investors and broad student demographics, the credibility, standards, protocols, utility and value of MOOCs are being questioned, researched and developed. MOOCs Forum is committed to providing and promoting dialogue, debate and discussion of the many process and content issues that will eventually impact the success and value of MOOCs. The objective and unbiased content will include letters to the editor, point-counterpoint discussions, perspectives and position papers, case studies, and roundtable discussions. MOOCs Forum will be available online with Open Access options and in print. The articles in the preview issue are available on the MOOCs Forum website.

The insightful Roundtable Discussion included in the preview issue, "State-of-the-Field" brings together domestic and international, traditional and open university, MOOC providers and end-user experts to discuss whether MOOCs will "democratize" education. Participants in the Roundtable include Andrew Ng, Co-Founder and Co-CEO of Coursera; Jack Wilson, President Emeritus, University of Massachusetts; Peter Sloep, Professor at the Open University of the Netherlands; and Nish Sonwalkar, Editor-in-Chief of MOOCs Forum and Director of Research for the United States Distant Learning Association. The preview issue also includes the original research article "Self-Driven Mastery in Massive Open Online Courses" by C.B. Do, Z. Chen, R. Brandman, and D. Koller, as well as a Perspective titled "Crowdsourcing to Assess MOOCs: A Position Paper", by R.J. Clougherty Jr. and V. Popova.

"MOOCs are now facing many challenges. MOOCs Forum brings the best minds together and debates the issues for a long-term solution," says Nishikant Sonwalkar, ScD, Editor-in-Chief of MOOCs Forum. "We know MOOCs are here to stay and the Forum provides a voice for key stakeholders in defining the future of MOOCs."

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About the Journal

MOOCs Forum is published quarterly online with Open Access options and in print, and features diverse thoughts, opinions, perspectives, and practices on all topics related to Massive Open Online Courses. Led by Editor-in-Chief Nishikant Sonwalkar and a distinguished team of Associate Editors and Editorial Board members, MOOCs Forum provides the latest thinking in topics such as student identification and security, institutional benefits and liabilities, content and credit standards, platform advancements, matriculation, acceptability by employers, regulators, and universities, and a host of other dynamic topics that will influence the success and sustainability of MOOCs. Complete information is available on the MOOCs Forum website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in promising areas of science and biomedical research, including 3D Printing and Additive Manufacturing (launching 2014) and Telemedicine and e-Health. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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MOOCs Forum -- preview issue of groundbreaking publication

Genetically Modified Organism (GMO) is a term used to describe plants and animals that have been produced through genetic engineering.

The resulting products are intended to be resilient, safe and provide higher yield, according to advocates. Many people however, disagree on the safety and efficacy of GMOs. Conflicting studies and passionate activists on each side have turned the topic into a vigorous debate. There are currently no laws requiring the identification of foods containing genetically modified organisms (GMOs) in Washington state. Initiative 522 aims to change that by requiring those products to be labeled as such.

Supporters of I-522 claim GMO crops negatively impact farmers, consumers and the environment - earning the nickname frankenfood. The use of GMOs has resulted in infestations of herbicide-resistant weeds, which prompts the use of increasingly toxic and dangerous herbicides, according to the initiative.

Mixing plant, animal, bacterial, and viral genes in combinations that cannot occur in nature produces results that are not always predictable or controllable, and can lead to adverse health or environmental consequences, the initiative reads. Preserving the identity, quality, and reliability of Washingtons agricultural products is of prime importance to our states fiscal health.

The initiative also states more than 49 countries and the European Union already mandate the disclosure of GMOs on food labels. Other countries have instituted bans and/or restrictions on their use. More than 80 percent of the commercially processed foods available in the U.S. contain GMOs, according to the Non-GMO Project. Some foreign markets have chosen not to purchase agricultural imports from the U.S., for fear of unintentionally consuming GMO-containing food. This creates a billion-dollar loss in U.S. agriculture, according to advocates.

Skeptics of the cause regard scientific advancement as the saving grace in a world with increasingly difficult hunger-related issues to face. Large organizations such as the American Medical Association, World Health Organization, U.S. National Academy of Science and the British Royal Society believe genetic modification is safe and practical. Genetic engineers Dr. Marc Van Montagu, Dr. Mary-Dell Chilton and Dr. Robert Fraley have earned esteemed accolades such as the World Food Prize; an award equivalent to the Nobel Peace Prize for improving the quality and/or quantity of the worlds food supply.

Don Brunell, president of the Association of Washington Business (AWB), holds a positive view of genetic engineering. Scientific advancements allow farmers to produce more food in a smaller amount of time and resources, he said in his AWB weekly column, Presidents Perspective, on June 28. For example, by transplanting drought and insect-resistant genes into wheat, scientists have developed a strain that requires less water and pesticides. Agricultural biotechnology provides the answer to alleviating world hunger, he said.

Humans have modified crops for thousands of years, cross breeding varieties to make them tastier, bigger and more productive If opponents (of the GMO debate) succeed, the results will be disastrous, especially for the poor, Brunell said. We have no choice: We must grow more food on fewer acres. Fortunately, scientists have been working on a solution.

I-522 will rest on Novembers ballot. If it succeeds, all foods with GMO-containing ingredients will be required to say so on the label.

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GMO food initiative draws sparks from each side | Election

Public release date: 17-Sep-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, September 17, 2013Using a new in silico method called OptSwap scientists can predict how to engineer microorganisms to increase the yield of high-value biobased chemicals produced by industrial-scale cell factories. This example of how advanced computational tools are being applied to genome-scale metabolic modeling in microbes illustrates the important contributions from the field of Systems Biology, as highlighted in a special research section in Industrial Biotechnology, a peer-reviewed journal from Mary Ann Liebert Inc., publisher. The articles are available on the Industrial Biotechnology website.

The article "Optimizing Cofactor Specificity of Oxidoreductase Enzymes for the Generation of Microbial Production StrainsOptSwap," by Zachary King and Adam Feist, University of California, San Diego and Technical University of Denmark, Lyngby, describes the development of OptSwap. The authors identified microbial strain designs with significant advantages for the production of L-alanine, succinate, acetate, and D-lactate under the modeled conditions.

"The OptSwap method of King and Feist provides a great example of how systems approaches can enable more effective design and simulation of microbial strains," says Guest Editor Nathan D. Price, PhD, Associate Director, Institute of Systems Biology (Seattle, WA) and a member of the Industrial Biotechnology Editorial Board.

The IB IN DEPTH special section on Systems Biology includes review articles by Kieran Smallbone (University of Manchester, UK) and Pedro Mendes (Virginia Tech, Blacksburg): "Large-Scale Metabolic Models: From Reconstruction to Differential Equations"; Jacob Koskimaki, Anna Blazier, Andres Clarens, and Jason Papin (University of Virginia, Charlottesville): "Computational Models of Algae Metabolism for Industrial Applications"; Scott Harrison and Markus Herrgrd (Technical University of Denmark, Hrsholm): "The Uses and Future Prospects of Metabolomics and Targeted Metabolite Profiling in Cell Factory Development"; and Manual Alberto Garcia-Albornoz and Jens Nielsen (Chalmers University of Technology, Gteborg, Sweden): "Application of Genome-Scale Metabolic Models in Metabolic Engineering."

Research articles by Hnin Aung, Susan Henry, and Larry Walker (Cornell University, Ithaca, NY): "Revising the Representation of Fatty Acid, Glycerolipid, and Glycerophospholipid Metabolism in the Consensus Model of Yeast Metabolism,"; and by Patrick Hyland and Radhakrishnan Mahadevan (University of Toronto, Canada) and Serene Lock-Sow Mun (Universiti Teknologi Petronas, Tronoh Malaysia): "Prediction of Weak Acid Toxicity in Saccharomyces cerevisiae Using Genome-Scale Metabolic Models" round out the special section.

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About the Journal

Industrial Biotechnology, led by Co-Editors-in-Chief Larry Walker, PhD, Professor, Biological & Environmental Engineering, Cornell University, Ithaca, NY, and Glenn Nedwin, PhD, MoT, CEO and President, Caisson Biotech, LLC, Davis, CA, is an authoritative journal focused on biobased industrial and environmental products and processes, published bimonthly in print and online. The Journal reports on the science, business, and policy developments of the emerging global bioeconomy, including biobased production of energy and fuels, chemicals, materials, and consumer goods. The articles published include critically reviewed original research in all related sciences (biology, biochemistry, chemical and process engineering, agriculture), in addition to expert commentary on current policy, funding, markets, business, legal issues, and science trends. Industrial Biotechnology offers the premier forum bridging basic research and R&D with later-stage commercialization for sustainable biobased industrial and environmental applications.

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OptSwap optimizes microbial strain design for production-scale bioprocessing

The growth of personalised medicine threatens the communal approach that has brought our biggest health gains

ADVOCATES of personalised medicine claim that healthcare isn't individualised enough.

Backed up by the glamour of new biotechnologies such as direct-to-consumer genetic testing, personalised medicine what I call "Me Medicine" appears to its advocates as the inevitable and desirable way to go. Barack Obama, when still a US senator, declared that "in no area of research is the promise greater than in personalised medicine".

This trend towards Me Medicine is led by the US, but it is growing across the developed world.

In contrast, "We Medicine" public-health programmes such as flu shots or childhood vaccination is increasingly distrusted and vulnerable to austerity cuts. Yet historically this approach has produced the biggest increase in lifespan. Even today, countries with more social provision of healthcare and less individualistic attitudes have better health outcomes across all social classes.

Contrary to the claims of its proponents, the personalised approach hasn't yet delivered a paradigm shift in medicine. A 2012 Harris poll of 2760 US patients and physicians found that doctors had recommended personal genetic tests for only 4 per cent of patients. The Center for Health Reform & Modernization, run by US healthcare company UnitedHealth, put the figure at just 2 per cent.

But money is still pouring into Me Medicine. In July, the UK government announced that it would offer private companies a subsidy from a 300 million fund to encourage investment in its personalised medicine initiative, Genomics England. Last year the US administration increased the National Institutes of Health budget for personalised medicine, while cutting the budget for the Centers for Disease Control and Prevention's Office of Public Health Genomics by 90 per cent.

Of course it would be nice if we could afford both, but in reality there's a growing risk that "me" will edge out "we". If it does, it won't be because the science is better or the outcomes more beneficial. In some instances of Me Medicine, clinical outcomes are worse than the We equivalent. For example, according to the UK's Royal College of Obstetricians and Gynaecologists, private umbilical cord blood banks, which ostensibly provide a personal "spare parts kit" for the baby, produce poorer outcomes than public cord blood banking.

It is true that in some areas of Me Medicine, such as genetically individualised drug regimes for cancer care (technically known as pharmacogenetics), there has been genuine progress. For example, vemurafenib, a drug for aggressive melanoma, was reported in a 2012 New England Journal of Medicine article to extend the lifespan of 1 in 4 patients by seven months if they carry a specific genetic mutation in their cancer.

But only about half of those with the "right" type of tumour responded, and the mutation in question only occurs in about half of such melanomas. What is more, pharmaceutical firms will probably charge more for such drugs than for mass-market ones. They will be expensive, may benefit only a subset of the population and could leave cash-strapped state healthcare systems facing difficult decisions about where to allocate resources.

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*Me* medicine could undermine public health measures

RUTHERFORD, N.J., Sept. 18, 2013 (GLOBE NEWSWIRE) -- Cancer Genetics, Inc. (CGIX) ("CGI" or the "Company"), an emerging leader in DNA-based cancer diagnostics that personalizes the clinical management of difficult-to-diagnose cancers, expanded its relationship with Roche Servicios S.A., an affiliate of the Swiss drug maker Roche. The companies will work together to develop workshops and training programs designed to drive adoption of biomarker-based cancer diagnostics at hospitals and cancer centers throughout Central America and the Caribbean.

Panna Sharma, CEO of CGI, stated, "This new initiative is an extension of our existing work with Roche Servicios, and it aligns with our focus on bringing our genomic testing to the community setting."

Since August 2012, CGI has performed highly complex testing services for Roche Servicios intended to provide information for the diagnosis and prognosis of cancer patients. These services help Roche Servicios deliver quality results to clinicians based in 14 different locations covering Central America and the Caribbean.

"Cancer Genetics' advanced technologies provide crucial genomic information that can be used for better outcome prediction and targeted treatment," stated Alvaro Soto, Central America and Caribbean General Manager of Roche Servicios. "We've seen great results in our work with Cancer Genetics. Together we've already affected hundreds of lives by targeting early therapeutics faster. By expanding our relationship, we are strengthening our ability to provide patients the best service possible."

Lan Wang, M.D., medical director of CGI, stated, "The workshops and training programs we are implementing will improve access to accurate genetic-based diagnostics, positively impacting therapeutic decision making in cancer care throughout the region, while adhering to the highest industry standards."

Mr. Sharma added: "We are extremely pleased to work with Roche on improving cancer care in the region. Building on our Expand Dx(TM) outreach program, our joint efforts are well-positioned to accelerate the adoption of targeted tools to fight cancer."

Roche Servicios plans to evaluate other CGI programs that can increase its scope of services and range of patients being serviced.

CGI's Expand Dx(TM) program is designed to enhance and expand community access to cancer diagnostics and personalized cancer treatment by developing outreach to hospitals and cancer centers. Expand Dx(TM) builds on a laboratory's capabilities to increase efficiency and drive revenue, helping community facilities stay competitive and grow in today's evolving market.

About Cancer Genetics:

Cancer Genetics, Inc. is an emerging leader in DNA-based cancer diagnostics that personalizes the clinical management of difficult-to-diagnose cancers. These cancers include hematological, urogenital and HPV-associated cancers. The Company's comprehensive range of oncology-focused tests and laboratory services provide critical genomic information to healthcare professionals, cancer centers, and biopharma companies. Through its CLIA certified and CAP accredited state-of-the-art reference lab, Cancer Genetics services some of the most prestigious medical institutions in the world and has strong research collaborations with major cancer centers such as Memorial Sloan-Kettering, The Cleveland Clinic, Mayo Clinic and the National Cancer Institute. For further information, please see http://www.cancergenetics.com.

Originally posted here:
Cancer Genetics, Inc. (CGIX) Expands Relationship With Roche Servicios S.A.

SEATTLE, WA--(Marketwired - Sep 18, 2013) - Atossa Genetics, Inc. (NASDAQ: ATOS), The Breast Health Company, announced today that it has entered into a nationwide distribution agreement with McKesson Medical-Surgical to sell and distribute Atossa's MASCT device and patient collection kits. The MASCT device is used in OB/GYN, primary care, and women's clinics to perform a non-invasive collection of breast fluid. The specimens are analyzed at the National Reference Laboratory for Breast Health, a subsidiary of Atossa, with the ForeCYTE Breast Health Test, which assesses a woman's future risk of breast cancer.

Under terms of the agreement, McKesson Medical-Surgical will sell and distribute the MASCT device and patient collection kits nationwide through its sales force.

Dr. Steven C. Quay, Chairman, President & CEO of Atossa Genetics, commented, "Our agreement with McKesson Medical-Surgical is another important step forward in making the ForeCYTE test the standard of care in breast cancer risk assessment. McKesson Medical-Surgical is one of the country's top medical distributors and we are pleased that they have agreed to add the ForeCYTE test to their product portfolio. With their extensive market presence, we look forward to providing physicians a much needed early warning system by detecting the earliest, reversible precursors of breast cancer."

"We're pleased to be able to offer Atossa Genetics' products to our customers," said Joan Eliasek, Senior Vice President, Supplier Management, McKesson Medical-Surgical. "As a company, we are in business for one reason: better health. And fighting cancer is a major aspect of better health in our country. That's why Mckesson's corporate citizenship initiative is focused on supporting the fight against cancer. We are glad to offer products to our customers that help them deliver better care for their patients."

Chris Destro, Vice President, Sales and Marketing for Atossa, stated, "McKesson Medical-Surgical will enable us to further increase our penetration into all geographical markets while expanding our relationships with physician offices. With a large sales force calling on physician practices, we look forward to working closely with the McKesson Medical-Surgical sales team."

Breast cancer is the second most common form of cancer. One woman is diagnosed every minute. Current detection methods lack the ability to detect very small concentrations of precancerous cells (ductal hyperplasia) at breast cancer's earliest stages. Early detection enables lifestyle change and/or chemopreventative treatment to reverse the abnormal cells. Atossa's ForeCYTE Breast Health Test has been shown in analytical validation to detect as few as 10 precancerous breast cells.

About the ForeCYTE Breast Health Test

The ForeCYTE Breast Health Test, intended for the 110 million women in the U.S. ages 18 to 73, is a painless, quick and non-invasive procedure that can be done in a physician's office. A small sample of fluid, aspirated from the nipple of each breast with the Company's MASCT device, can provide vital early detection of cancer or pre-cancerous conditions that may progress to cancer over an approximately eight year period and before cancer can be detected by mammography or other means and without the risks of radiation, especially in women younger than age 50. No invasive biopsy needles or open surgical incisions are used in the Atossa test and the test is painless.

Just as the Pap smear has reduced cervical cancer rates by over 70 percent, becoming the most successful screening test in medicine, the goal of Atossa Genetics is to reduce the stubbornly high rate of breast cancer through the early detection of the pre-cancer changes that can lead to breast cancer and the treatment of those early changes.

About McKesson Medical-Surgical

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Atossa Genetics Signs Distribution Agreement With McKesson Medical-Surgical

MOUNTAIN VIEW, Calif.--(BUSINESS WIRE)--

23andMe, the leading personal genetics company, is working with Udacity, a Silicon Valley-based education start-up, to create a Massive Open Online Course (MOOC) on human genetics. Tales from the Genome will provide an accessible introduction to genetic concepts and technology for just about anyone. The course is designed to be particularly helpful for high school, college and medical students, as well as health care professionals and life-long learners. Course participants can choose to complete the entire course or just the individual lessons on the topics they find most interesting. Tales from the Genome also incorporates personal and engaging perspectives from people living with a variety of genetic traits, from color blindness to lactose intolerance.

Tales from the Genome covers the fundamental principles of inheritance, gene structure and expression, mutation and variation, development of simple and complex biological traits, human ancestry and evolution, and the acquisition and interpretation of personal genetic information. By the end of the course, students will have an enhanced understanding of both the science of genetics and the various ways genetics informs their personal health.

Genetics is so much more than what many students experience in a traditional classroom setting, said Dr. Matthew Cook, the main instructor for the course. It should really be about the stories our genomes can tell, all the biological secrets wound up and packaged into efficient information storage units called chromosomes.

Dr. Cook earned his Ph.D. at Duke University and completed training as a post-doctoral scholar at the University of California, San Francisco. Dr. Cook then joined the content development team at Udacity to share his passion for genetics with the world.

As individuals are becoming more actively involved in their health care and more physicians incorporate personalized medicine into their practice, genetic information is becoming a fundamental element of basic health care, said Dr. Uta Francke, senior medical director at 23andMe and co-instructor of Tales from the Genome. As a result, genetics education has never been more important, particularly for individuals seeking the best possible care for themselves and their families.

Dr. Francke is an emeritus professor of genetics and pediatrics at Stanford University, where she taught molecular and clinical genetics. Tales from the Genome is also co-instructed by 23andMe Senior Director of Research, Dr. Joanna Mountain. Dr. Mountain previously served as a faculty member at Stanford University in the anthropological sciences and genetics departments.

Tales from the Genome will be available to the public as of September 30, 2013 on Udacity.

About 23andMe

23andMe, Inc. is the leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company's Personal Genome Service enables individuals to gain deeper insights into their ancestry and inherited traits. The vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. 23andMe, Inc., was founded in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. More information is available at http://www.23andMe.com.

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23andMe and Udacity Launch Introductory Human Genetics Course

Public release date: 17-Sep-2013 [ | E-mail | Share ]

Contact: Mary Leach mary_leach@meei.harvard.edu Massachusetts Eye and Ear Infirmary

BOSTON (Sept. 17, 2013) Researchers from the Eaton-Peabody Laboratories of the Massachusetts Eye and Ear and Harvard Medical School have created a new mouse model in which by expressing a gene in the inner ear hair cells -- the sensory cells that detect sound and sense balance -- protects the mice from age-related hearing loss (ARHL) and noise-induced hearing loss (NIHL), the two most common forms of deafness.

Their research, described in the Journal Neuroscience, provides new insight into protective mechanisms for hearing loss and suggests the potential for future molecular approaches, which may include gene therapy or medicine, to treat ARHL and NIHL.

Hearing loss is a serious public health issue. Nearly one-third of adults 64 and older have significant ARHL. After age 85, that number almost doubles to 64 percent. NIHL, also a common complaint, is one of the most self-reported occupational injuries. The irreversible loss of inner ear outer cells is a cause of both types of hearing loss. Hearing aids and cochlear implants help those suffering from hearing loss in some cases, but there is no device that works for everyone and no cure.

Mass. Eye and Ear researchers set out to understand if both types of hearing loss share a common underlying mechanism by studying certain inbred strain of mice. They investigated whether overexpression of Isl1, an inner ear progenitor gene with roles in development and differentiation, could be effective in protecting the inner ear.

The team found that Isl1 expression protected hair cells from degeneration in aging and promoted hair cell survival after exposure to loud noise. As a result, the hearing in aged mice or in mice exposed to intense noise was significantly better than their siblings without the gene.

"The Isl1 gene further preserved the connections between hair cells and neurons, which is necessary for hearing," said senior author Zheng-Yi Chen, D.Phil., Mass. Eye and Ear researcher and Associate Professor of Otolaryngology, Harvard Medical School.

Future research can evaluate if Isl1 is protective from ARHL and NIHL in other mouse strains. The investigators hope to eventually study if such protection can be extended to the human condition.

"To our knowledge, our model is the first in which expression of a single gene in postnatal hair cells results in hair cell survival and hearing preservation in mice that otherwise suffer from age-related and noise-induced hearing loss," Dr. Chen said.

Original post:
Researchers gain insight into protective mechanisms for hearing loss

Public release date: 16-Sep-2013 [ | E-mail | Share ]

Contact: Mary Leach Mary_Leach@meei.harvard.edu 617-573-4170 Massachusetts Eye and Ear Infirmary

BOSTON -- Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes. Conventional methods for identification of both RP mutations and novel RP genes involve the screening of DNA coding sequences.

In a paper in the Proceedings of the National Academy of Sciences, researchers from the Massachusetts Eye and Ear, Harvard Medical School, the University of Lausanne, Switzerland, and others tested DNA with the use of whole genome sequencing, a technique that takes into account all variants from both the coding and noncoding regions of the human genome. With this approach the authors report a number of unique RP mutations, a previously undescribed disease gene called NEK2 that involves the retinal photoreceptors, and structural DNA rearrangements originating in introns.

This paper supports the advantages of the use of whole genome sequencing to search for mutations in patients with RP.

The researchers performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants, the authors wrote. Eight patients were from North America, whereas eight were Japanese, a population for which ARRP seems to have different genetic drivers.

Using a specific work flow, they assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures. They detected homozygous or compound het erozygous mutations in 7 genes associated with ARRP (USH2A, RDH12, CNGB1, EYS, PDE6B, DFNB31, and CERKL) in eight patients, three Japanese and five Americans. Fourteen of the 16 mutant alleles identified were previously unknown. Among these, there was a 2.3-kb deletion in USH2A and an inverted duplication of 446 kb in EYS, which would have likely escaped conventional screening techniques or exome sequencing. Moreover, in another Japanese patient, they identified a homozygous frameshift (p.L206fs), absent in more than 2,500 chromosomes from ethnically matched controls, in the ciliary gene NEK2, encoding a serine/threonine-protein kinase. Inactivation of this gene in zebrafish induced retinal photoreceptor defects that were rescued by human NEK2mRNA. In addition to identifying a previously undescribed ARRP gene, the study highlights the importance of rare structural DNA variations in Mendelian diseases and advocates the need for screening approaches that transcend the analysis of the coding sequences of the human genome.

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This work was supported by the Swiss National Science Foundation (Grant 310030_138346) and the Gebert Rf Foundation, Switzerland (Rare Diseases-New Technologies Grant); a Center Grant from the Foundation Fighting Blindness; National Institutes of Health Grants DK072301 and MH-084018; Ministry of Health, Labor and Welfare of Japan Grant 23300101 and Grant 23300201; the Japan Science and Technology Agency, and the Strategic Research Program for Brain Sciences; and a Grant-in-Aid for Scientic Research on Innovative Areas from the Ministry of Education, Culture, Sports, Science and Technology of Japan and Takeda Science Foundation. A full list of authors and their contributions to the research is available in the paper.

About Massachusetts Eye and Ear

Continued here:
Whole DNA sequencing reveals mutations, new gene for blinding disease

Sep. 16, 2013 Scientists at Sanford-Burnham Medical Research Institute (Sanford-Burnham) today announced the discovery that a gene encoding an enzyme, phosphoinositide-dependent kinase-1 (PDK1), plays an essential role in the development and progression of melanoma. The finding offers a new approach to treating this life-threatening disease.

The team of researchers, led by Ze'ev Ronai, Ph.D., professor and scientific director of Sanford-Burnham Medical Research Institute in La Jolla (San Diego, Calif.), used genetic mouse melanoma models to show the importance of the PDK1 gene in melanoma. Specifically, mice lacking the PDK1 gene in their melanocytes (cells that transform to become melanoma) had smaller melanoma tumors, a significant loss of metastasis, and a prolonged survival time. In some cases, the median survival time was increased by more than 50 percent. Further, by treating mice with the PDK1 gene with an inhibitor of PDK1 (PDK1i), the scientists were able to delay the development of melanoma and inhibit metastasis. The published results are available online in the advanced online publication of Oncogene.

"We have shown that PDK1 is required for melanoma metastasis, and that by inactivating the PDK1 enzyme we can delay the onset of melanoma lesions and almost completely abolish metastasis," Ronai said. Prior to this study, it was known that PDK1 activity played an important role in normal cell processes such as cell metabolism, protein translation, and cell survival. PDK1 activity was also known to be associated with specific tumor types. For example, inactivation of PDK1 activity has been shown to inhibit pancreatic cancer. This study provides the first genetic evidence for the importance of PDK1 in melanoma.

David Fisher, M.D., Ph.D., professor and chairman of the Edward Wigglesworth Department of Dermatology, director of the Melanoma Program, and director of Cutaneous Biology at Massachusetts General Hospital, Harvard Medical School, commented, "The study by Ronai and colleagues is novel and important for melanoma therapeutics because it identifies a new and tractable treatment approach. The investigators achieved impressive results which validate PDK1 as a new treatment target for melanoma."

"This collaboration between Sanford-Burnham and Yale researchers shows unequivocally that melanoma cells require PDK1 for both development and metastasis. The team also demonstrates that a molecular inhibitor is capable of duplicating the effects of the genetic approaches suggesting that the cancer field should invest more efforts into PDK1 targets," said Meenhard Herlynn D.V.M., D.Sc., director of Melanoma Research and leader, Molecular and Cellular Oncogenesis program at the Wistar Institute in Philadelphia, Pa.

Melanoma, Disease Progression, and Treatment

Although less common than other types of cancer, melanoma is the most deadly form of skin cancer. In the United States, over 70,000 new cases are diagnosed per year and 9,000 deaths are attributed to the disease. Metastatic melanoma is a progressive form of melanoma that happens when cancerous cells from the original tumor break off, circulate, and form new tumors in other parts of the body, leading to life-threatening disease.

Recently, advances in the treatment of melanoma that activate the immune system by targeting the molecules CTLA4 and PD1, and targeting kinases such as BRAF, have shown promise. Although these drugs have led to improved patient survival, they do not cure melanoma. Therefore, additional therapies are needed. Recently, it has been shown that a combination of targeted therapies can be more effective.

"It is important now to demonstrate the impact of PDK1 inhibition in combination with other therapies currently used in melanoma, including BRAFi or immunological targets (PD1/CTL4A), on melanoma development and metastasis. A number of PDKi are available and others are in development, offering an important addition to the currently available combination therapies. Ultimately, our goal is to see if inhibition of PDK1 will contribute to better outcomes for patients with melanoma," Ronai said.

See original here:
New target for melanoma treatment

Newswise LA JOLLA, Calif., September 16, 2013 Scientists at Sanford-Burnham Medical Research Institute (Sanford-Burnham) today announced the discovery that a gene encoding an enzyme, phosphoinositide-dependent kinase-1 (PDK1), plays an essential role in the development and progression of melanoma. The finding offers a new approach to treating this life-threatening disease.

The team of researchers, led by Zeev Ronai, Ph.D., professor and scientific director of Sanford-Burnham Medical Research Institute in La Jolla (San Diego, Calif.), used genetic mouse melanoma models to show the importance of the PDK1 gene in melanoma. Specifically, mice lacking the PDK1 gene in their melanocytes (cells that transform to become melanoma) had smaller melanoma tumors, a significant loss of metastasis, and a prolonged survival time. In some cases, the median survival time was increased by more than 50 percent. Further, by treating mice with the PDK1 gene with an inhibitor of PDK1 (PDK1i), the scientists were able to delay the development of melanoma and inhibit metastasis. The published results are available online in the advanced online publication of Oncogene.

We have shown that PDK1 is required for melanoma metastasis, and that by inactivating the PDK1 enzyme we can delay the onset of melanoma lesions and almost completely abolish metastasis, Ronai said. Prior to this study, it was known that PDK1 activity played an important role in normal cell processes such as cell metabolism, protein translation, and cell survival. PDK1 activity was also known to be associated with specific tumor types. For example, inactivation of PDK1 activity has been shown to inhibit pancreatic cancer. This study provides the first genetic evidence for the importance of PDK1 in melanoma.

David Fisher, M.D., Ph.D., professor and chairman of the Edward Wigglesworth Department of Dermatology, director of the Melanoma Program, and director of Cutaneous Biology at Massachusetts General Hospital, Harvard Medical School, commented, The study by Ronai and colleagues is novel and important for melanoma therapeutics because it identifies a new and tractable treatment approach. The investigators achieved impressive results which validate PDK1 as a new treatment target for melanoma.

This collaboration between Sanford-Burnham and Yale researchers shows unequivocally that melanoma cells require PDK1 for both development and metastasis. The team also demonstrates that a molecular inhibitor is capable of duplicating the effects of the genetic approaches suggesting that the cancer field should invest more efforts into PDK1 targets, said Meenhard Herlynn D.V.M., D.Sc., director of Melanoma Research and leader, Molecular and Cellular Oncogenesis program at the Wistar Institute in Philadelphia, Pa.

Melanoma, Disease Progression, and Treatment

Although less common than other types of cancer, melanoma is the most deadly form of skin cancer. In the United States, over 70,000 new cases are diagnosed per year and 9,000 deaths are attributed to the disease. Metastatic melanoma is a progressive form of melanoma that happens when cancerous cells from the original tumor break off, circulate, and form new tumors in other parts of the body, leading to life-threatening disease.

Recently, advances in the treatment of melanoma that activate the immune system by targeting the molecules CTLA4 and PD1, and targeting kinases such as BRAF, have shown promise. Although these drugs have led to improved patient survival, they do not cure melanoma. Therefore, additional therapies are needed. Recently, it has been shown that a combination of targeted therapies can be more effective.

It is important now to demonstrate the impact of PDK1 inhibition in combination with other therapies currently used in melanoma, including BRAFi or immunological targets (PD1/CTL4A), on melanoma development and metastasis. A number of PDKi are available and others are in development, offering an important addition to the currently available combination therapies. Ultimately, our goal is to see if inhibition of PDK1 will contribute to better outcomes for patients with melanoma, Ronai said.

# # #

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Researchers Identify New Target for Melanoma Treatment

CAMBRIDGE, England--(BUSINESSWIRE)--

Gene editing platform now includes rAAV, ZFN and CRISPR

Horizon Discovery (Horizon), a leading provider of research tools to support translational genomics research and the development of personalized medicines, today announced it has entered into a non-exclusive license agreement with Harvard University to access intellectual property related to the commercialization of CRISPR gene editing technology for research use.

By adding CRISPR to its GENESIS precision gene-editing platform, Horizon can now offer researchers an unrivalled toolbox capable of performing rapid functional genomics experiments, as well as creation of high-precision human disease models for deployment at all stages of drug discovery and diagnostic development. Horizon will employ all three genome editing technologies for custom client-led projects, as well as to expand on its own menu of over 500 genetically-defined off-the-shelf cell lines and related products. In addition, the company will soon launch a range of rAAV, CRISPR and hybrid rAAV/CRISPR gene-editing kits and associated reagents, supported by Horizons technical team with expertise in all gene editing platforms and their application in translational research.

Horizons scientists now have the freedom to choose the best technology, or combination of technologies, to most effectively achieve the specific goals for each customer project, commented Dr. Darrin Disley, CEO of Horizon. The landscape for CRISPR IP is in a settling phase, and by licensing key IP such as this from Harvard as well as complementary IP from other organizations, Horizon is ensuring that we continue to be able to offer our customers a best-in-class solution for their research needs.

CRISPR is an RNA-guided gene editing system which gained notoriety in late 2012 through the simultaneous publication of several seminal articles describing its ability to introduce either a targeted double strand break or single strand nick in the genome of mammalian cells.

The introduction of a nick rather than a full double strand break offers advantages over other nuclease technologies when the goal of the project is to introduce a specific mutation rather than simply disrupting the gene, said Eric Rhodes, CTO, Horizon Discovery. By combining both CRISPR and ZFNs with our proprietary rAAV technology, Horizon is working to develop novel approaches that achieve levels of gene editing efficiency not previously seen when using a single approach alone.

The intellectual property licensed from Harvard Office of Technology Development relates to inventions originating from the lab of Dr. George Church at Harvard Medical School and inventions originating at the Wyss Institute for Biologically Inspired Engineering at Harvard. Financial terms were not disclosed. Horizon continues to review the gene editing field for further IP licensing opportunities.

About Horizon Discovery http://www.horizondiscovery.com/

Horizon Discovery Limited (Horizon) is a leading provider of research tools to support translational genomics research and the development of personalized medicines. Using GENESISTM, Horizon is able to alter any endogenous gene sequence of a human or mammalian cell-line quickly, reliably and without introducing unwanted and confounding genotypes and/or phenotypes.

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Horizon Discovery Licenses CRISPR Gene Editing Technology from Harvard University

Public release date: 16-Sep-2013 [ | E-mail | Share ]

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

New Rochelle, NY, September 16, 2013Repeated exposure to low level blasts (LLB) can cause symptoms similar to sports concussion. Soldiers or law enforcement officers called "breachers" receive training in using low level blasts for forced entry. They may be at risk for diminished neurocognitive performance and symptoms caused by the harmful effects of blast-related pressure changes on the brain, as described in a study published in Journal of Neurotrauma, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Neurotrauma website at http://www.liebertpub.com/neu.

Charmaine Tate and colleagues, New Zealand Defence Force (Auckland), Banyan Biomarkers, Inc. (Alachua, FL), Naval Medical Research Center and Walter Reed Army Institute of Research (Silver Spring, MD), and University of Florida (Gainesville), measured the levels of three blood biomarkers, performance on cognitive tests, and self-reported symptoms among a "breacher" population of the New Zealand Defence Force.

The authors compared the composite scores of the five individuals with the highest scores to the five participants with the lowest scores. They report a significant relationship between blood biomarker load and neurocognitive deficits and between symptoms and neurocognitive performance.

In the article "Serum Brain Biomarker Level, Neurocognitive Performance, and Self-Reported Symptom Changes in Soldiers Repeatedly Exposed to Low-Level Blast: A Breacher Pilot Study," the researchers describe their findings and conclude that the results suggest "a measureable degree of brain perturbation linked to LLB exposure."

John T. Povlishock, PhD, Editor-in-Chief of Journal of Neurotrauma and Professor, VCU Neuroscience Center, Medical College of Virginia, Richmond notes that, "Although the work presents a pilot study, its finding are potentially of great importance. Not only does this report strongly suggest the damaging consequences of repeated blast injury, but it also identifies biomarkers capable of detecting change in this population. As noted by the authors, these biomarker studies, together with the composite data analysis methodologies reported in this communication, should prove invaluable in future expanded studies of blast injury."

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About the Journal

Journal of Neurotrauma is an authoritative peer-reviewed journal published 24 times per year in print and online that focuses on the latest advances in the clinical and laboratory investigation of traumatic brain and spinal cord injury. Emphasis is on the basic pathobiology of injury to the nervous system, and the papers and reviews evaluate preclinical and clinical trials targeted at improving the early management and long-term care and recovery of patients with traumatic brain injury. Journal of Neurotrauma is the official journal of the National Neurotrauma Society and the International Neurotrauma Society. Complete tables of content and a sample issue may be viewed on the Journal of Neurotrauma website at http://www.liebertpub.com/neu.

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Low level blast explosions harm brain, says new study in Journal of Neurotrauma

NEHRU TE JF - ALTA GENETICS
Nehru TE JF é filho de Urutu NF e Acauã JF. Descende, tanto na linha alta quanto na linha baixa, de animais comprovadamente leiteiros. Touro provado para lei...

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NEHRU TE JF - ALTA GENETICS - Video

Largest Company-Sponsored Resected Pancreatic Cancer Study Yet Conducted

Ames, IA (ACCESSWIRE - 9/17/2013 7:00:00 AM) - NewLink Genetics Corporation (NLNK), an oncology-focused biopharmaceutical company specializing in immunotherapy, today announced that a major milestone has been reached in the IMPRESS (Immunotherapy for Pancreatic Resectable cancer Survival Study) Phase 3 clinical trial of algenpantucel-L. The accrual goal of 722 subjects with surgically resected pancreatic cancer has been met. The study examines the lead product candidate from NewLink's proprietary HyperAcute[TM] immunotherapy platform, algenpantucel-L, which is designed to stimulate the human immune system to recognize and attack cancer cells. Two interim analyses and a final analysis are planned for the IMPRESS study. In addition to the IMPRESS trial, algenpantucel-L is also being studied in a second Phase 3 trial involving patients with locally advanced pancreatic cancer (PILLAR).

"On behalf of the entire NewLink organization, I would like to take this opportunity to extend our deepest gratitude to all the patients who participated in this pivotal study as well as to their families. I would also like to thank all the health care professionals including physicians, nurses and study coordinators who have contributed to the successful enrollment of this landmark trial" commented Charles Link, Jr., M.D., Chairman and CEO of NewLink Genetics.

"Our promising Phase 2 results enabled us to successfully collaborate with many major medical centers and the leaders within those institutions," Dr. Link remarked. "To date, IMPRESS is the largest corporate sponsored resected pancreatic cancer study yet conducted. We are confident in the stringency of this study design and the statistical power provided by the large number of patients participating in this trial as we enthusiastically look forward to the clinical results."

"We are increasingly confident in the progress made with the clinical development of algenpantucel-L," said Nicholas N. Vahanian, M.D., President, Chief Medical Officer of NewLink Genetics. "As we enter a critical data collection and analysis phase of the study we are encouraged by the progress made in such a short period of time. Completion of study enrollment is a critical step towards our mission of bringing better treatment options to pancreatic cancer patients who are in desperate need of more promising alternatives."

About HyperAcute Immunotherapy

NewLink's HyperAcute immunotherapy platform creates novel biologic products that are designed to stimulate the human immune system to recognize and attack cancer cells. HyperAcute product candidates are composed of human cancer cells that are tumor specific, but not patient specific. These cells have been modified to express alpha-gal, a carbohydrate for which humans have pre-existing immunity. These alpha-gal-modified cells stimulate a rapid and powerful human immune response that trains the body's natural defenses to seek out and destroy cancer cells. The objective of HyperAcute immunotherapies is to elicit an antitumor response by "educating" the immune system to attack a patient's own cancer cells. HyperAcute immunotherapies do not require any tissue from individual patients and use intact whole cells rather than cell fragments or purified proteins. We believe these unique properties of HyperAcute products result in the stimulation of a robust immune response.

NewLink's lead product candidate, algenpantucel-L (HyperAcute pancreas), is being studied in a Phase 3 trial (IMPRESS: "Immunotherapy for Pancreatic Resectable cancer Survival Study") under a Special Protocol Assessment with the U.S. Food and Drug Administration. This trial involves up to 722 patients with surgically resected pancreatic cancer. Algenpantucel-L is also being tested in a second Phase 3 study (PILLAR: "Pancreatic Immunotherapy with algenpantucel-L for Locally Advanced non-Resectable"), involving patients with locally advanced pancreatic cancer.

NewLink has several HyperAcute product candidates focused on other tumor types in various stages of development, including tergenpumatucel-L, which is in an adaptive design, randomized Phase 2B/3 clinical trial currently accruing up to 240 patients with non-small cell lung cancer.

About NewLink Genetics Corporation

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NewLink Genetics Completes Patient Enrollment in Phase 3 Algenpantucel-L (IMPRESS) Clinical Study

Genetics Video Slow 091413
2013 Genetics Softball Video.

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Genetics Video Slow 091413 - Video

SEATTLE, WA--(Marketwired - September 16, 2013) - Atossa Genetics Inc.

WHO:Atossa Genetics Inc., a Seattle-based healthcare company focused on the development and marketing of novel cellular and molecular diagnostic risk assessment products for breast cancer

WHAT: Breast Health Fair

WHEN: Friday, September 27 from 2 to 6 p.m. Saturday, September 28 from 10 a.m. to 5 p.m.

WHERE:Holistique Medical Center 1899 116th Avenue Northeast Bellevue, WA 98004

DETAILS:Atossa Genetics Inc., the Breast Health Company based in Seattle, is hosting a Breast Health Fair on Friday, September 27 and Saturday, September 28 during which patients will have the opportunity to be tested with the ForeCYTE Breast Health Test, which detects the beginnings of breast cancer years before it can show up on a mammogram. Healthcare providers will administer the test and medical experts will be onsite to discuss the latest innovations in breast cancer prevention.

The ForeCYTE Breast Health Test is a simple, quick, non-invasive test that can detect breast cancer cells at the earliest stages of disease. For women ages 50 to 73, the ForeCYTE Breast Health Test is intended to be used as a routine screen for breast cancer in addition to an annual mammogram. The test is also intended as an important tool for assessing and maintaining breast health in women between the ages of 18 and 49, for whom screening mammography is not currently recommended. For more information, visit http://www.atossagenetics.com or http://www.getforecyte.com/breasthealthfair.

COST:Total out-of-pocket cost will be $125 or less for most patients. For estimated cost, call 1-888-403-2685.

SCHEDULING APPOINTMENTS: To schedule an appointment, call 1-888-219-4625.

About Atossa Genetics Inc. [ATOS]: Atossa Genetics, Inc. (ATOS), The Breast Health Company, based in Seattle, is focused on preventing breast cancer through the commercialization of patented, FDA-designated Class II diagnostic medical devices and, through its wholly-owned subsidiary, The National Reference Laboratory for Breast Health, Inc. ("NRLBH"), patented, laboratory developed tests (LDT) that can detect precursors to breast cancer up to eight years before mammography.

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Seattle-Based Atossa Genetics to Host Breast Health Fair

SEATTLE--(BUSINESS WIRE)--

NanoString Technologies, Inc., (NSTG) a provider of life science tools for translational research and molecular diagnostic products, today announced that a study published online in the Journal of the National Cancer Institute demonstrated that the PAM50 gene signature, which is the basis for the Prosigna Breast Cancer Prognostic Gene Signature Assay, provides important information to help estimate the risk of late distant recurrence in postmenopausal women with estrogen receptor positive (ER+) early-stage breast cancer. After comparing the PAM50 gene signature, the Oncotype DX Breast Cancer Assay and the IHC4 score, the authors concluded that the PAM50 gene signature provided the strongest prognostic information regarding risk of distant recurrence five to 10 years following diagnosis in postmenopausal ER+ early-stage breast cancer patients treated with five years of endocrine therapy.

Despite recent improvements in breast cancer treatment, some women with ER+ early-stage breast cancer remain at risk of disease recurrence after remaining disease-free for the first five years following diagnosis. Identifying newly diagnosed women with ER+ breast cancer who are at highest risk of having their cancer recur between five and 10 years after diagnosis is a priority for oncologists seeking a tool to help breast cancer patients make more informed treatment decisions.

The goal of this study was to compare the ability of three breast cancer assays to predict risk of distant recurrence separately in years 0 to 5 and years 5 to 10 after diagnosis for postmenopausal women with ER+ early-stage breast cancer. The three breast cancer assays included in the study were the PAM50 gene signature, the Oncotype DX Breast Cancer Assay, and the IHC4 score, derived from immunohistochemical assessment of ER, PR, HER2 and Ki67 genes. The study included 940 samples from the landmark ATAC (Arimidex, Tamoxifen, Alone or in Combination) trial of postmenopausal women with ER+ early-stage breast cancer treated with five years of endocrine therapy. The study was performed on RNA extracted from tumor samples by Genomic Health, Inc. for validation of the Oncotype DX Breast Cancer Assay.

The researchers concluded that the PAM50 gene signature was the only breast cancer assay of the three evaluated that showed promise in predicting late recurrence and in categorizing patients into low and high risk for late distant recurrence. Although PAM50, Oncotype DX, and IHC4 each added overall prognostic information in the late follow-up period, PAM50 was the best discriminator of patients into low-risk and high-risk groups for late distant recurrence. Of the three assays evaluated, PAM50 provided the strongest risk score in the five to 10 year period for all patient subgroups evaluated in this study.

This publication expands upon a presentation at IMPAKT 2013 on a study in 1,478 patients from the ABCSG8 clinical trial, which demonstrated that the Prosigna Assay added prognostic information about the risk of late recurrence of breast cancer to the standard pathological variables in postmenopausal women with hormone receptor positive (HR+), node-positive and node-negative early-stage breast cancer (p

We are pleased that this study further differentiates the performance of the Prosigna Breast Cancer Assay from first-generation genomic breast cancer assays, said Brad Gray, President and Chief Executive Officer of NanoString Technologies. This second peer-reviewed article follows quickly on the heels of the publication of our TransATAC clinical validation study and FDA 510(k) clearance, and contributes to a growing body of evidence of Prosignas ability to provide prognostic information that supports future inclusion of Prosigna in treatment and reimbursement guidelines.

The study, entitled Factors predicting late recurrence for estrogen receptor positive breast cancer, was conducted by researchers in London at the Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Queen Mary University and the Academic Department of Biochemistry, Royal Marsden Hospital, in cooperation with scientists at NanoString Technologies. It was published online in JNCI, and can be found at: http://jnci.oxfordjournals.org/content/early/2013/09/10/jnci.djt244.full.pdf+html.

About the ProsignaBreast Cancer Prognostic Gene Signature Assay

The Prosigna Assay provides a risk category and numerical score for assessment of the risk of distant recurrence of disease at 10 years in postmenopausal women with node-negative (Stage I or II) or node-positive (Stage II), hormone receptor-positive (HR+) breast cancer. Based on the PAM50 gene signature initially discovered by Charles Perou, Ph.D. and colleagues, the Prosigna Assay is an in vitro diagnostic tool that utilizes gene expression data weighted together with clinical variables to generate a risk category and numerical score, to assess a patients risk of distant recurrence. The Prosigna Assay measures gene expression levels of RNA extracted from formalin-fixed paraffin-embedded (FFPE) breast tumor tissue previously diagnosed as invasive breast carcinoma.

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Study Published Showing Advantages of the PAM50 Gene Signature, the Basis for Prosigna, in Helping to Estimate Risk of ...

Stem Cell Therapy in California Covered by Insurance (888) 828-4575
http://stemcelltherapyincalifornia.com TeleHealth offers stem cell therapy for arthritis, tendonitis, ligament injuries that is covered by insurance. This in...

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Stem Cell Therapy in California Covered by Insurance (888) 828-4575 - Video

Manila, Philippines More health groups are supporting the stand of the Philippine College of Physicians (PCP) to strengthen government control against the unapproved use of stem cell therapy until conclusive trials had proven its safety and efficacy.

The University of the Philippines-National Institutes of Health (UP-NIH) released a statement stressing the importance of clinical trials in proving the efficacy of stem cell treatments.

Aside from the NIH, the other medical societies opposing the highly advertised unproven treatments are the Philippine College of Geriatric Medicine, Philippine Society of Allergy, Asthma, and Immunology, Philippine Society of Hematology and Blood Transfusion, Philippine Society of Nephrology, Philippine Neurological Association, Philippine Society of General Surgeons, Philippine College of Surgeons, Philippine Heart Association, Philippine Society of Endocrinology and Metabolism, Philippine Society of Medical Oncology, Diabetes Philippines, Philippine Society of General Internal Medicine, Philippine Society for Vascular Surgery, Philippine Urological Association, Philippine College of Chest Physicians, Philippine Rheumatology Association, Philippine Society of Gastroenterology, Philippine Society for Microbiology and Infectious Diseases, Philippine Academy of Rehabilitation Medicine, Philippine Society of Nuclear Medicine, Academy of Filipino Neurosurgeons, and the Philippine Dermatological Society.

The NIH said stem cell therapy, in all its stages collecting, processing, cryopreservation, and delivery of stem cells, must undergo clinical trials.

Dr. Marita V.T. Reyes of the Philippine Health Ethics Research Board emphasized that experimental therapy is not considered a standard therapy.

Reyes said experimental therapy may lead to unidentified harms that will cause probable risks on the patients.

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Stem cell therapy control sought

Medgenics (MDGN) announces the appointment of a new executive leadership team with the goal of accelerating the development of the companys gene therapy platform and maximizing the value of the companys technology assets. The new executives are Michael Cola, President and Chief Executive Officer, John Leaman, M.D., Chief Financial Officer, and Garry Neil, M.D., Global Head of Research and Development. In addition, on September 13, Cola joined the Medgenics Board of Directors. Cola was most recently President of Shire plcs (SHPG) Specialty Pharmaceuticals business. Leaman was most recently Vice President of Commercial Assessment at Shire plc. Andrew Pearlman, Ph.D., the companys Founder and previously the companys President and CEO, has retired as of September 13, and is continuing to serve on the Board of Directors and as a senior advisor to the company. This executive team will be based in the U.S. R&D and manufacturing will continue to operate in Misgav, Israel and U.S. manufacturing will continue to operate in San Francisco.

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Medgenics appoints former Shire executives as new CEO, CFO

15 September 2013 Last updated at 20:11 ET By James Gallagher Health and science reporter, BBC News

A blood test that may improve treatment for children born with congenital cataracts has been developed by researchers in Manchester.

It analyses every known mutation in the DNA which can cause the condition.

The team, which is presenting the test at the British Society for Genetic Medicine, hope it will spread up diagnosis and help decide the best treatment.

The charity RNIB described the test as a "welcome step forward".

About 200 children are born with cataracts in the UK each year.

"Diagnosing a congenital cataract is very easy at birth, but diagnosing the cause takes considerably longer," Prof Graeme Black, from the University of Manchester, said.

The problem is there are more than 100 different mutations in a child's DNA which have been linked to congenital cataracts.

"If you have a child with no family history then finding the cause can take months or years," he told the BBC.

A complete diagnosis can help doctors work out the best course of treatment, inform families on the risks of cataracts if they have more children or diagnose severe diseases which have cataracts as an early symptom.

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Child cataract blood test developed

Washington, Sept 16 (ANI): European scientists have created a map that points to the genetic causes of differences between people.

The study, led by researchers from the University of Geneva (UNIGE)'s Faculty of Medicine in the context of the GEUVADIS project, offers the largest-ever dataset linking human genomes to gene activity at the level of RNA.

Understanding how each person's unique genome makes them more or less susceptible to disease is one of the biggest challenges in science today.

Geneticists study how different genetic profiles affect how certain genes are turned on or off in different people, which could be the cause of a number of genetic disorders.

This study adds a functional interpretation to the most important catalogue of human genomes.

"The richness of genetic variation that affects the regulation of most of our genes surprised us," study coordinator Tuuli Lappalainen, previously at UNIGE and now at Stanford University, said.

"It is important that we figure out the general laws of how the human genome works, rather than just delving into individual genes," Lappalainen added.

Knowing which genetic variants are responsible for differences in gene activity among individuals can give powerful clues for diagnosis, prognosis and intervention of different diseases.

Senior author Emmanouil Dermitzakis, Louis Jeantet Professor at UNIGE, who led the study, emphasises that today's study has profound implications for genomic medicine.

The study is published in Nature and Nature Biotechnology. (ANI)

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First map of genetic variation in humans could revolutionise healthcare

ATLANTA, Sept. 16, 2013 /PRNewswire/ -- Fighting hereditary disease among Jews is the aim of a multi-state public health initiative launched today, called JScreen. The JScreen program (www.jscreen.org), managed by Emory University School of Medicine's Department of Human Genetics, provides at-home genetic screening and private counseling for people with Jewish lineage to determine their risk for hereditary diseases that could be passed to their children.

Today's geneticists have identified genetic markers for 19 genetic diseases that are more common in the Jewish-Ashkenazi community, including Tay-Sachs and Canavan disease. The carriers are healthy but they can pass the diseases along to their children. Couples who are both carriers can risk unknowingly having children with one of these diseases. JScreen also offers an expanded panel, useful for couples of mixed descent and interfaith couples, which screens for a total of 80 diseases.

"By leveraging advances in genetic testing and online education that allow people to be screened in the comfort of their homes, we are removing barriers to allow more people to be screened," said Patricia Zartman Page, JScreen senior director at the Emory School of Medicine's Department of Human Genetics.

JScreen makes testing for common genetic diseases simple - providing an easy-to-use at-home saliva test that gives people who are planning to have children an unprecedented understanding of their own genetic makeup and risks relating to their children's health. If a person or couple's risk is elevated, genetic counselors from Emory University School of Medicine will privately address their results, options and resources to help ensure a healthy pregnancy and healthy baby.

"Most of the time, we are able to reassure couples that their future children are not at increased risk for these devastating diseases," said Karen Arnovitz Grinzaid, JScreen senior director at the Emory School of Medicine's Department of Human Genetics. "When we dofind a carrier couple, we offer a variety of options to help them have healthy children. Without screening, the couples would not have known they were at risk."

An estimated 76 percent of young Jewish men and women have not been tested, according to Emory's own research. Now JScreen is here to provide everyday people with ready access to cutting-edge Jewish genetic testing technology, patient education and genetic counseling services. People interested in requesting the kit can visit the program's website at http://www.JScreen.org to learn more.

JScreen will start in Georgia, Florida, North and South Carolina, Virginia, Maryland and the District of Columbia. For individuals with medical insurance, the cost of screening will usually not exceed $99, and is often much lower, depending on insurance.

Join the JScreen movement and conversation online by connecting with us socially at: http://www.facebook.com/myJScreen; http://www.twitter.com/myJScreen; http://www.youtube.com/myJScreen

About JScreen

JScreen (www.JScreen.org) is a non-profit, community-based public health initiative dedicated to preventing Jewish genetic diseases. Headquartered in Atlanta at Emory University School of Medicine, the JScreen initiative is a collaboration among clinical geneticists, socially minded businesses and nonprofits to provide everyday people with a ready access point to cutting-edge genetic testing technology, patient education and genetic counseling services.

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JScreen public health initiative launches to fight Jewish genetic diseases