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Sampling of embryonic DNA after IVF without biopsy

Public release date: 2-Apr-2013 [ | E-mail | Share ]

Contact: Greyling Peoples g.peoples@elsevier.com 31-204-853-323 Elsevier

Cambridge, UK, April 2, 2013 Preimplantation genetic diagnosis (PGD) technologies allow identification of genetic disorders in human preimplantation embryos after in vitro fertilization (IVF) and before the embryo is transferred back to the patient. This technique allows couples with a high-risk of passing on inherited diseases, to increase their chances of having a healthy baby. Despite the theoretical benefits of PGD, clinical outcomes using these technologies vary, possibly because of the need to remove one or more cells from the embryo using biopsy.

In a recent study published in Reproductive Biomedicine Online, a group of researchers from Italy and the United Kingdom sought to achieve diagnose of genetic disease in embryonic DNA without the use of a biopsy. By extracting fluid from human embryos at the blastocyst stage they found that it contains DNA from the embryo. Blastocysts are 5 or 6 day old embryos and are at the last free-living stage that can be studied in the laboratory prior to transfer into the uterus. They contain between 50 and 300 cells that surround a fluid-filled cavity called the blastocoels. The researchers carefully removed fluid from the blastocoel, leaving the cells intact; the sampled blastocysts were subsequently cryopreserved. Analysis of this fluid showed that it contained cell-free DNA in a state good enough to determine several known genes of the sex chromosomes by polymerase chain reaction (PCR); whole genome amplification and followed by analysis using a specialized tool for genetic testing called a DNA microarray were also used and revealed whether the embryos had a normal number of chromosomes chromosome abnormalities are one of the main causes of miscarriage and failure of embryos to form pregnancies during IVF treatments.

"This is the first time that embryonic DNA has been detected in the human blastocyst without the use of biopsy," explained lead researchers Dr. Simone Palini Ph.D., from the IVF Unit at Cervesi Hospital in Cattolica, Italy and Dr. Galluzzi from University of Urbino in Italy and Dr. Dagan Wells from University of Oxford, United Kingdom.

"This is a technique that most embryologists can easily master," Dr. Buletti who directs the IVF team at Cervesi Hospital Cattolica and Prof. Magnani, Chairman of the Department of Biomolecular Sciences of the University of Urbino, added. "More work needs to be done to confirm our results, but we hope that this approach will ultimately help infertile couples achieve their dream of having a family. It may also improve the options for families affected by severe inherited conditions, helping them to have healthy babies."

"Even though it is only a preliminary finding, this approach may allow for genetic testing of the embryo without the complexity of cell sampling," Dr. Joe Leigh Simpson MD, Senior Vice President for Research Programs, March of Dimes Foundation and President, International Federation of Fertility Societies (IFFS), a pioneer in reproductive medicine and genetics, commented on the research.

###

This article is "Genomic DNA in human blastocoele fluid" by S. Palini, L. Galluzzi, S. De Stefani, M. Bianchi, D. Wells, M. Magnani, C. Bulletti (10.1016/j.rbmo.2013.02.012).The article is currently an Article in Press in Reproductive Biomedicine Online, (March, 2013), published by Elsevier.

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Entia Receives Notices of Allowance for its Ergothioneine and Genetic Transporter Patents from the United States …

SHERWOOD, Ore., April 2, 2013 /PRNewswire/ --Entia Biosciences (ERGO), a food science biotechnology company and emerging leader in the field of Nutrigenomics, has now received three Patent Notices of Allowance covering the use of Ergothioneine and its genetic transporter in the treatment of a wide variety of diseases, including those affecting the immune and central nervous systems. Notices from the United States Patent and Trademark Office and the Israel Patent Office were received in March and from the Canadian Intellectual Property Office in December.

Ergothioneine is a powerful amino acid and master antioxidant that is acquired exclusively from the diet and carried by a unique and specific transporter (human gene symbol SLC22A4) to cells throughout the body that are fighting damage and death from oxidative stress and toxic free radical reactions. Research conducted by Entia since 2011 has confirmed significant transporter activity in diabetes, arthritis, and several other serious non-communicable chronic conditions, suggesting an important physiologic role for Ergothioneine and its transporter in diseases affecting millions of people world-wide.

Discovered in 2005 by Dr. Dirk Grundemann at the University of Cologne (Germany), SLC22A4 is a sodium-ion dependent transporter that efficiently and specifically carries Ergothioneine across the cell membrane to erythrocytes (red blood cells), progenitor stem cells, and monocytes (white blood cells) (Grundemann, 2005). Variations in SLC22A4 have been associated with susceptibility to inflammatory disorders, such as rheumatoid arthritis and Crohn's disease, and expression has been documented in a variety of human tissues. Entia licensed the exclusive world-wide diagnostic and therapeutic rights to the discovery from the University of Cologne in 2010 and Dr. Grundemann currently serves on Entia's Scientific Advisory Board.

Found in naturally high concentrations almost exclusively in mushrooms and other fungi, Ergothioneine is transferred directly from these sources into the soil, where it is taken up by plants and grazing mammals. For thousands of years, our hunter/gatherer genetics have relied on this process to maintain adequate levels of Ergothioneine to prevent or delay the onset and progression of disease. Entia theorizes introduction of modern agricultural practices in the past century, such as the heavy use of chemical fertilizers, herbicides, pesticides, and over tilling of the soil, has been gradually eradicating mushrooms from our farmland and depleting Ergothioneine from the food supply. During this same period, our dietary habits have been changing, which Entia believes is further accelerating deficiency in the general population and may be a contributing factor in the dramatic increases we are now seeing in diabetes, arthritis, neurodegenerative, and other debilitating diseases. This deficiency theory is supported by human blood testing conducted in the late 1920s (Salt, 1931) that showed "normal" Ergothioneine levels nearly double those found by Pennsylvania State University in 2010 (Weigand-Heller, 2012).

Dr. Solomon Snyder of Johns Hopkins University School of Medicine has suggested that Ergothioneine is as potent as glutathione and because of its dietary origin and the toxicity associated with its depletion, it may represent a new vitamin whose physiologic roles include antioxidant cytoprotection. Dr. Snyder further believes that the high density of Ergothioneine within mitochondria implies a unique role in protecting mitochondrial DNA from damage induced by free radicals and reactive oxygen species (Snyder, 2009). Mitochondria are cytoplasmic organelles responsible for life and death. Evidence from animal and clinical studies suggest that mitochondria play a critical role in aging, cancer, diabetes and neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease (Simon, 2004; Lin, 2006; Reddy, P.H., 2009).

About Entia Biosciences, Inc.

Entia is an authority on the clinical effects of oxidative stress and free radical reactions and is bringing this expertise to the fields of food science biotechnology and Nutrigenomics. The Company identifies, scientifically validates, patents, and commercializes solutions that address multi-billion dollar markets for health, beauty and agriculture.

For more information, please visit our web sites at http://www.entiabio.com or contact:

Devin Andres Chief Operating Officer Entia Biosciences, Inc. 13565 SW Tualatin-Sherwood Rd Sherwood, OR, 97140 Phone: 503-334-3575 Email: info@entiabio.com

Any statements contained in this press release that relate to future plans, events or performance are forward-looking statements that involve risks and uncertainties including, but not limited to, the risks associated with the transaction described in this press release, and other risks identified in the filings by Entia Biosciences with the Securities and Exchange Commission. Further information on risks faced by the Company and its shareholders are detailed in the Form 10-K for the year ended December 31, 2012 and in its subsequent Quarterly Reports on Form 10-Q. These filings are or will become available on a website maintained by the Securities and Exchange Commission at http://www.sec.gov. The information contained in this press release is accurate as of the date indicated. Actual results, events or performance may differ materially. Entia does not undertake any obligation to publicly release the result of any revision to these forward-looking statements that may be made to reflect events or circumstances after the date hereof or to reflect the occurrence of unanticipated events.

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Spas, salons warned on stem cell therapy

By Tina G. Santos Philippine Daily Inquirer

MANILA, PhilippinesStem cell therapy at spa centers and salons? Watch out, government agents are coming.

Health Secretary Enrique Ona says no clinic or hospital in the Philippines can offer stem cell therapy without accreditation from the Department of Health (DOH).

Speaking to reporters last week, Ona noted that while many centers are advertising stem cell therapy treatment, none of them have the approval of the health department.

As of now we have not accredited any clinic or even hospital offering stem cell therapy yet, Ona said.

Admitting that the DOH doesnt have the police power to close down erring health centers, Ona said the department would coordinate with other governmental agencies like the Department of Trade and Industry (DTI) and local governments to prevent spas and salons from offering stem cell treatment.

We will issue a warning for them to stop [doing stem cell therapy]. But if they continue despite warnings from us, thats when we will move to close them down, Ona said.

Stem cell therapy and treatment, which are becoming popular here and abroad, are medical procedures that deal with ailments by replacing malignant cells with healthy cells.

Only medical doctors with the right training can perform stem cell treatment.

Cosmetic purposes

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Gene test hope for common epilepsy

Until now, experts believed this type of epilepsy came from a neurological trauma, such as a hit to the head. Picture: ThinkStock Source: Supplied

AUSTRALIAN researchers have discovered a gene they believe is responsible for the most common form of epilepsy, opening the door to genetic screening.

The researchers also suspect a link between this gene and other neurological issues, such as autism and some psychiatric disorders.

The discovery, by researchers at the Universities of Melbourne and South Australia, has been described as a major breakthrough.

Until now, many experts believed this type of epilepsy came from a neurological trauma, such as a hit on the head.

"This is going to completely shift thinking," Professor Ingrid Scheffer, the study's senior author and a paediatric neurologist, said. "Instead of saying 'we don't know the cause', they can test for this gene."

About 25 genes for rarer types of epilepsy have already been found - more than half of them by Australian scientific groups.

But this gene causes focal epilepsy, which affects 60 per cent of people with epilepsy.

In this form of the disorder, the seizure comes from a specific part of the brain, such as the frontal cerebral cortex, although the gene causes seizures coming from different parts of the brain in different people. Seizures most commonly come from the temporal lobe or the frontal lobe.

"For the patient the discovery means a few things," Professor Scheffer said.

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More genetic insights into three types of cancer

By Barbara Bronson Gray HealthDay Reporter

WEDNESDAY, March 27 (HealthDay News) -- Critical clues to understanding who is at the greatest risk for particular types of cancer may be found in "spelling mistakes" contained in a person's DNA.

In a step toward personalized medicine and the ability to better understand individual risk factors for three common hormone-related cancers, a large team of international researchers have unveiled what might be the clearest picture to date of the genetic alterations associated with some forms of the disease.

Although more research is needed, the study authors predict that genetic testing to help determine a person's risk for some of the most potentially deadly cancers may be available within five to 10 years.

"We think the most immediately practical application will be in people already at risk for the disease and going through the genetic counseling process," said Douglas Easton, a professor of genetic epidemiology at the University of Cambridge, in England.

A combination of five studies that include work from 160 different research groups has identified more than 80 genetic errors that are linked to increased risk of breast, prostate and ovarian cancers. The research was published March 27 in the journal Nature Genetics.

More than 2.5 million people worldwide are diagnosed with these three types of cancers each year, according to the researchers.

Everyone has some of the so-called spelling mistakes, often called "snips" (single nucleotide polymorphisms, or SNPs), the researchers said. Problems are signaled by errors in the sequence of genetic elements (bases), where letters representing the elements -- A, G, C and T -- are incorrectly placed.

The sequence of bases in a portion of a DNA molecule, called a gene, carries the instructions that are needed to create a protein. Although some errors affect small things, others may be responsible for increasing vulnerability to certain forms of cancer. The impact on a person depends on where on the strand of DNA the genetic alteration is located.

The studies from the European-based consortium -- collectively known as the Collaborative Oncological Gene-Environment Study, or COGS -- compared 100,000 patients with breast, ovarian or prostate cancer to 100,000 healthy people.

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Biological Transistors Could Revolutionize The Future Of Medicine

March 31, 2013

Brett Smith for redOrbit.com Your Universe Online

Researchers at Stanford University have developed a basic computer using genetic material, according to a report in the journal Science.

The team said that the tiny biological transistors they have developed could potentially revolutionize medicine in the future.

Were going to be able to put computers into any living cell you want, lead author Drew Endy explained to the San Jose Mercury News. Were not going to replace the silicon computers. Were not going to replace your phone or your laptop. But were going to get computing working in places where silicon would never work.

Endy, who came to Stanford from the Massachusetts Institute of Technology, co-founded the BioBricks Foundation, which supports free-to-use standards and technologies for engineering biology.

Any place you want a little bit of logic, a little bit of computation, a little bit of memory were going to be able to do that, said Endy.

For example, gene-based biological computers could determine if a certain toxin is present inside a cell or react to treatment within an individual cell.

Traditional transistors that are found in conventional computers control the flow of electrons in the form of the zeros and ones of binary code, the most basic machine language. Arranging multiple transistors together forms something called a logic gate, which serves as the basic building block of all computations performed by computers around the world.

The Stanford genetic transistors, which theyve dubbed transcriptors, use enzymes to manage the flow of RNA proteins along a strand of DNA, similar to the way a computer would use silicon transistors. Using about 150 letters of genetic code, the transcriptors could make a yes-or-no decision, such as determining if mercury is present within the cell.

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RAGE CAGE (The Hidden) – Video


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Why I Believe Bodyweight Training is BEST – Video


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Genetics Impacts Depression Meds’ Effectiveness

By Rick Nauert PhD Senior News Editor Reviewed by John M. Grohol, Psy.D. on March 29, 2013

Unfortunately, antidepressant drug therapy does not work for everyone. But new research finds that improved identification of genomic predicators that is, how a persons genetic makeup might impact their response to medication will help future treatment of depression.

The National Institute of Mental Healths STAR*D study, the largest and longest study ever conducted to evaluate depression treatment, has determined that only one-third of individuals respond to the first medication prescribed for depression, and that another one-third do not have an adequate response despite being treated with several medications.

Thus, identifying predictors of antidepressant response could help to guide the treatment of this disorder.

A new study, published in Biological Psychiatry, discusses new initiatives for identifying genomic predictors of antidepressant response.

Many previous studies have searched for genetic markers that may predict antidepressant response, but have done so despite not knowing the contribution of genetic factors, saidKatherine Tansey, Ph.D., a psychiatric researcher at Kings College, London.

Our study quantified, for the first time, how much is response to antidepressant medication influenced by an individuals genetic makeup, said Tansey.

For the study, researchers estimated the magnitude of the influence of common genetic variants on antidepressant response using a sample of 2,799 antidepressant-treated subjects with major depressive disorder and genome-wide genotyping data.

They found that genetic variants explain 42 percentof individual differences, and therefore, significantly influence antidepressant response.

While we know that there are no genetic markers with strong effect, this means that there are many genetic markers involved. While each specific genetic marker may have a small effect, they may add up to make a meaningful prediction, Tansey added.

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Design Talks: Timothy Prestero – Video


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Italy pushes on with controversial stem cell therapy

Italian health officials are allowing a handful of patients to continue with a controversial stem cell therapy amid protests from scientists that the treatments are unproven and unsafe.

The Stamina Foundation has been administering the therapy at the public hospital Spedali Civili of Brescia to people with a range of degenerative diseases. Their approach is based on mesenchymal stem cells, derived from bone marrow, which can become mature bone and connective tissue.

In 2011 the hospital agreed to host the research and assist with cell extraction and patient treatments, stirring protests from the medical community. "The hospital is not even listed among the 13 Italian authorised stem cell factories," says Michele de Luca, director and gene therapy programme coordinator at the Centre for Regenerative Medicine in Modena. After an inspection in 2012, Italian drug regulator AIFA ordered an immediate halt to Stamina's stem cell treatments at the hospital.

The AIFA report says the Stamina Foundation's treatment did not follow Italy's official path required for clinical approval. So far no scientific publications describing its effectiveness are available.

But the halt sparked protests among patients' families who believed the treatment was working. Some appealed to the courts, and as a result a few patients were allowed to go ahead with the therapy. On 15 March, a group of 13 Italian stem cell researchers published an open letter to the country's Minister of Health, Renato Balduzzi, asking him to shut down all of the Stamina Foundation's treatments at the hospital.

Instead Balduzzi signed a bill last week authorising the foundation to continue treatments in patients who had already begun the regime unless they are experiencing serious side effects.

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Innate immune system can kill HIV when a viral gene is deactivated

Mar. 28, 2013 Human cells have an intrinsic capacity to destroy HIV. However, the virus has evolved to contain a gene that blocks this ability. When this gene is removed from the virus, the innate human immune system destroys HIV by mutating it to the point where it can no longer survive.

This phenomenon has been shown in test tube laboratory experiments, but now researchers at the University of North Carolina School of Medicine have demonstrated that the same phenomenon occurs in a humanized mouse model, suggesting a promising new target for tackling the virus, which has killed nearly 30 million people worldwide since it first appeared three decades ago.

A family of human proteins called APOBEC3 effectively restrict the growth of HIV and other viruses, but this action is fully counteracted by the viral infectivity factor gene (vif) in HIV. In the study, researchers intravenously infected humanized mice with HIV. They found that the most commonly transmitted strains of HIV are completely neutralized by APOBEC3 proteins when vif is removed from the virus.

"Without the vif gene, HIV can be completely destroyed by the body's own immune system," said J. Victor Garcia, PhD, professor of medicine at the UNC School of Medicine and senior author on the study. "These results suggest a new target for developing drugs fully capable of killing the virus."

Garcia and his colleagues pioneered the humanized mouse model used for these studies. The aptly named "BLT" mouse is created by introducing human bone marrow, liver and thymus tissues into animals without an immune system of their own. The mice have a fully functioning human immune system and can be infected with HIV in the same manner as humans. In previous research, Garcia and his team have effectively prevented intravenous, rectal, vaginal and oral transmission of HIV in the mice with pre-exposure prophylaxis (PrEP).

For the current study, Garcia and his colleagues also infected BLT mice with another, highly harmful strain of the virus. The results show that this strain of HIV does continue to replicate, even without vif, but at a much slower rate and without harming the human immune system. Further, the researchers found that virus replication in this case was limited to one tissue -- the thymus -- in the entire body.

"These findings demonstrate a fundamental weakness in HIV," said John F. Krisko, PhD, lead author on the study. "If this weakness can be exploited, it might eventually lead to a cure for HIV/AIDS," Krisko said.

The study appears March 28 in the online journal PloS Pathogens.

In addition to Garcia and Krisko, other study authors are Francisco Martinez-Torres, PhD, and John L. Foster, PhD, all of the Center for AIDS Research at the University of North Carolina School of Medicine.

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Healthier Me: Genetic Markers Reveal Cancer Risks

In Thursday's Healthier Me,scientists say they've discovered new ways in which small changes in our DNA can increase the risk for breast, ovarian, and prostate cancer.

It is a trove of new genetic information about cancer that could soon help millions of patients: researchers have found nearly 50 new markers for breast cancer, 26 for prostate cancer, and nearly a dozen for ovarian cancer.

Groundbreaking studies of more than 200,000 people in some 200 labs around the worldalmost doubled the number of gene variations known to affect risk for some of the deadliest cancers.

Thisnew genetic information could soon lead to new blood tests to help determine how much a person is at risk and how serious the cancer might be.

Because the research involved so many subjects, some of the tests should be in your doctor's office in a year or two, with others coming further down the road.

The explosion of genetic information has been made possible through the development of robotic machines capable of identifying the slight differencesin the DNA which signal cancer risk. Finding these variations used to take months or years; now it takes just days.

Dr. Fergus Couch, Mayo Clinic: "We started this project four years ago, and already we're at an endpoint where we can make tremendous benefits for the patients. We really thought we'd be doing this for 10, maybe 15 years before we'd see an outcome."

The tests will also help to identify more families with a high risk for cancer, allowing people like Julie Olbering -one of five girls -and her loved ones to make better-informed decisions

Experts say it's a gigantic step toward the goal of personalized medicine: giving individuals and families exactly the information and the treatment they need.

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What advances are driving clinical applications of tissue engineering and regenerative medicine ?

Public release date: 29-Mar-2013 [ | E-mail | Share ]

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

New Rochelle, NY, Mar 28, 2013Explosive growth in the field of tissue engineering and regenerative medicine has led to innovative and promising applications and techniques, many of which are now being tested in human clinical trials. Hot topics, research advances, and transformative publications that are driving the field forward are highlighted in a comprehensive overview of the field presented in Tissue Engineering, Part B, Reviews, a peer-reviewed journal from Mary Ann Liebert, Inc. publishers (http://www.liebertpub.com). The article is available on the Tissue Engineering website (http://www.liebertpub.com/ten).

Matthew Fisher, PhD and Robert Mauck, PhD, Perelman School of Medicine, University of Pennsylvania, and Philadelphia Veterans Administration Medical Center, Philadelphia, PA, identify four key areas in which the field is progressing. The first main theme, in the area of tissue engineering, focuses on advances in grafts and materials, including human or animal tissue from which the cells are removed and the remaining scaffold is used to regenerate new tissues, as well as scaffolds made of new types of biomaterials. Second, in the field of regenerative medicine, the authors highlight the role of novel scaffolds and various growth and control factors in promoting tissue formation and, for example, bone healing.

In the article "Tissue Engineering and Regenerative Medicine: Recent Innovations and the Transition to Translation," (http://online.liebertpub.com/doi/full/10.1089/ten.teb.2012.0723) the authors identify two additional areas that signal progress in the field: the increasing number of applications advancing into clinical trials; and the growing use of novel types of cells, such as induced pluripotent stem cells.

"Considering the rapid pace of growth and development in regenerative medicine, it is imperative that we fully consider recent advances," says Reviews Co-Editor-in-Chief John P. Fisher, PhD, Professor and Associate Chair, Fischell Department of Bioengineering, University of Maryland, College Park, MD. "Dr. Matthew Fisher and Dr. Robert Mauck have wonderfully reviewed the efforts in the tissue engineering field over the past few years, highlighting advances in biomaterials, cell-based constructs, and translational endeavors."

###

About the Journal

Tissue Engineering is an authoritative peer-reviewed journal published monthly in print and online in three parts: Part A--the flagship journal; Part BReviews; and Part CMethods. Led by Co-Editors-In-Chief Antonios Mikos, PhD, Louis Calder Professor at Rice University, Houston, TX, and Peter C. Johnson, MD, Vice President, Research and Development, Avery Dennison Medical Solutions of Chicago, IL and President and CEO, Scintellix, LLC, Raleigh, NC, the Journal brings together scientific and medical experts in the fields of biomedical engineering, material science, molecular and cellular biology, and genetic engineering. Tissue Engineering is the Official Journal of the Tissue Engineering & Regenerative Medicine International Society (TERMIS). Complete tables of content and a sample issue may be viewed on the Tissue Engineering website (http://www.liebertpub.com/ten).

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Mutazione… Card Trick Magic N°2 – Video


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HUNTED BY MARIO (The Hidden) – Video


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Resistance to Growing Stronger – Video


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Stem Cell Therapy Market in Asia-Pacific to 2018 Market Research Report Available at MarketResearchReports.biz

MarketResearchReports.biz Publishes Stem Cell Therapy Market in Asia-Pacific to 2018 Commercialization Supported by Favorable Government Policies, Strong Pipeline and Increased Licensing Activity. Buy the copy of this Report @ http://www.marketresearchreports.biz/analysis-details/stem-cell-therapy-market-in-asia-pacific-to-2018-commercialization-supported-by-favorable-government-policies-strong-pipeline-and-increased-licensing-activity

Albany, NY (PRWEB) March 29, 2013

To Read the Complete Report with TOC Visit: http://www.marketresearchreports.biz/analysis/155690

This report is built using data and information sourced from proprietary databases, primary and secondary research and in-house analysis by GBI Researchs team of industry experts.

GBI Research analysis finds the stem cell therapy market was valued at $545m in 2012, and is projected to grow at a Compound Annual Growth Rate (CAGR) of 10% from 2012 to 2018, to attain a value of $972m in 2018. The market is poised for significant growth in the forecast period due to the anticipated launch of JCR Pharmaceuticals JR-031 (2014) in Japan and FCB Pharmicells Cerecellgram (CCG) (2015) in South Korea.

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The research is mainly in early stages, with the majority of the molecules being in early stages of development (Phase I/II and Phase II). Phase I/II and Phase II contribute 67% of the pipeline. Stem cell research is dominated by hospitals/universities/institutions, which contribute 63% of the molecules in the pipeline. The dominance of institutional research is attributable to uncertain therapeutic outcomes in stem cell research.The major companies conducting research in India include Reliance Life Sciences and Stempeutics Research Pvt Ltd, among others. The major institutions include PGIMER and AIIMS.

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Country analysis of regulatory framework of India, China, South-Korea, Japan and Singapore

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Therapy Funded by The ALS Association Involving Injection of Antisense Molecules Into Spinal Cord Area of People with …

WASHINGTON, March 29, 2013 /PRNewswire-USNewswire/ --The injection of antisense molecules into the space around the spinal cord of people with ALS is safe according to research published today. The first-in-human trial of this new therapy was funded by The ALS Association. The study was published today in the scientific journal Lancet Neurology.

ALS, also known as Lou Gehrig 's Disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. The disease robs people of the ability to walk, to talk and even blink an eye. It traps them inside a body they no longer can control and ultimately prevents them from breathing as it takes their life. There is no known cause of the disease, although military veterans are approximately twice as likely to develop ALS as the general population.

"This trial is a landmark in ALS therapy," said Lucie Bruijn , Ph.D., Chief Scientist of The ALS Association. "By demonstrating the safety and practicality of this approach, it lays the groundwork for exciting new forms of treatment of ALS."

The study was led by Timothy Miller , M.D., Ph.D., of Washington University in Saint Louis, Mo. It compared the safety of delivering a single dose of antisense therapy versus placebo to the fluid surrounding the spinal cord in 21 patients with ALS. Several different doses were tested, and several patients re-enrolled and thus received more than one dose. The frequency of adverse events was similar between the two groups. The most common adverse event was post-lumbar puncture syndrome (characterized by a headache that is relieved by lying flat), as would be expected from the procedure. The study was not designed to test whether the antisense therapy had any effect on the disease, which would likely only emerge with longer-term treatment.

Antisense therapy targets a cellular messenger molecule, called messenger RNA, used to build proteins within cells. In this trial, the target was the messenger RNA for the protein Cu/Zn Superoxide Dismutase (SOD1). Mutations in the SOD1 gene account for about 20 percent of all familial, or inherited, ALS. The sequence of building blocks that make up the messenger RNA (the "sense" sequence) is used to design a complementary "antisense" molecule that will bind to it. That binding triggers the cell to destroy the messenger RNA, preventing the harmful SOD1 protein from being made. Results from SOD1-based animal models of ALS have indicated that reducing the level of SOD1 by antisense therapy increases lifespan.

The ALS Association's Translational Research Advancing Therapies for ALS (TREAT ALS) program provided funding at each stage of development for this therapy, beginning with establishing the proof of concept in pre-clinical work. That work was led by Don Cleveland , Ph.D., and Richard Smith , M.D., both of the University of California at San Diego, along with Dr. Miller, Dr. Cleveland's lab, and Frank Bennett , Ph.D., of Isis Pharmaceuticals, developer of the antisense molecules used in the research program. Merit Cudkowicz, M.D., of Massachusetts General Hospital, was co-investigator of the clinical trial.

This first-in-human trial of an antisense therapy for a neurodegenerative disease is the culmination of years of work by scores of people from academia and biotechnology, working in partnership to stop ALS," Dr. Bruijn said. "We still have much work to do before we know whether antisense therapy can offer benefit to patients with SOD1 mutations, but the evident safety of the procedure is very encouraging and should allow larger and longer trials in the near future that can tell us more about the potential of this form of treatment."

The ALS Association is grateful to have received funding to support this new groundbreaking research from the following:

The Kanter Family ALS Research Fund and The ALS Association Greater Philadelphia Chapter The Jeff Kaufman Fund and The ALS Association Wisconsin Chapter The Wallace Genetic Foundation and Mrs. Jean Wallace Douglas The George Yardley Company, the family of George Yardley , and The ALS Association Orange County Chapter Contributors to the Lou Gehrig Challenge campaign of The ALS Association

About The ALS AssociationThe ALS Association is the only national non-profit organization fighting Lou Gehrig 's Disease on every front. By leading the way in global research, providing assistance for people with ALS through a nationwide network of chapters, coordinating multidisciplinary care through certified clinical care centers, and fostering government partnerships, The Association builds hope and enhances quality of life while aggressively searching for new treatments and a cure. For more information about The ALS Association, visit our website at http://www.alsa.org.

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New Gene Markers Reveal Cancer Risk

A huge international effort involving more than 100 institutions and genetic tests on 200,000 people has uncovered dozens of signposts in DNA that can help reveal further a person's risk for breast, ovarian or prostate cancer, scientists reported Wednesday.

It's the latest mega-collaboration to learn more about the intricate mechanisms that lead to cancer. And while the headway seems significant in many ways, the potential payoff for ordinary people is mostly this: Someday there may be genetic tests that help identify women with the most to gain from mammograms, and men who could benefit most from PSA tests and prostate biopsies.

And perhaps farther in the future these genetic clues might lead to new treatments.

"This adds another piece to the puzzle," said Harpal Kumar, chief executive of Cancer Research U.K., the charity which funded much of the research.

One analysis suggests that among men whose family history gives them roughly a 20 percent lifetime risk for prostate cancer, such genetic markers could identify those whose real risk is 60 percent.

The markers also could make a difference for women with BRCA gene mutations, which puts them at high risk for breast cancer. Researchers may be able to separate those whose lifetime risk exceeds 80 percent from women whose risk is about 20 to 50 percent. One doctor said that might mean some women would choose to monitor for cancer rather than taking the drastic step of having healthy breasts removed.

AP

Scientists have found risk markers for the three diseases before, but the new trove doubles the known list, said one author, Douglas Easton of Cambridge University. The discoveries also reveal clues about the biological underpinnings of these cancers, which may pay off someday in better therapies, he said.

Experts not connected with the work said it was encouraging but that more research is needed to see how useful it would be for guiding patient care. One suggested that using a gene test along with PSA testing and other factors might help determine which men have enough risk of a life-threatening prostate cancer that they should get a biopsy. Many prostate cancers found early are slow-growing and won't be fatal, but there is no way to differentiate and many men have surgery they may not need.

Easton said the prospects for a genetic test are greater for prostate and breast cancer than ovarian cancer.

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New Gene Markers Reveal Cancer Risk

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