Aug. 29, 2013 Biologists at the University of Fribourg have been looking at a threadworm gene which also occurs in humans. This gene could be central to a genetic system which is responsible for development, reproduction and the ageing process.

Ageing involves a deterioration in physiological functions which inevitably leads to death. The risk of contracting age-related diseases such as cancer, diabetes and cardiovascular and neurodegenerative disorders is increased by the body's deterioration. Latest advances in research permit the isolation of genetic factors which control not only ageing but also the occurrence of age-related diseases.

Prof. Fritz Mller, Dr. Chantal Wicky and their research team have highlighted the importance of the gene let-418/Mi2 in the Caenorhabditis elegans worm because it regulates ageing and stress resistance as well as being essential for development and reproduction. The researchers have discovered that when the gene is deactivated in adult worms in the laboratory, they live longer and are considerably more resistant to stress. The gene forms part of a genetic system which plays a key beneficial role in growth and reproduction. But as soon as these stages are over, the effects become harmful.

Thanks to their collaboration with Prof. Simon Sprecher's recently formed research team at the University of Fribourg, the researchers were able to establish that this gene also operates as an ageing and stress regulator in the case of flies and plants. This indicates that the mechanism of action of this gene has been preserved over the course of evolution and may function similarly in humans. Deactivating the gene after the reproductive stage is over would enable the human body to enjoy a significant increase in life expectancy since its level of resilience would rise and the occurrence of age-related illnesses would diminish. The study of such factors -- which have negative as well as positive effects according to the stage of life -- represents a huge potential for human medicine.

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Biologists may have identified gene central to development, reproduction and aging

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Public release date: 27-Aug-2013 [ | E-mail | Share ]

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

New Rochelle, NY, August 26, 2013New classes of therapeutic antisense oligonucleotides can have toxic effects on the liver. A novel machine learning-based approach used to predict the hepatotoxic potential of an antisense drug based on its chemical sequence is presented in Nucleic Acid Therapeutics, a peer-reviewed journal from Mary Ann Liebert, Inc. publishers. The article is available on the Nucleic Acid Therapeutics website.

Peter Hagedorn and coauthors from Santaris Pharma, Hrsholm, Denmark, and University of Copenhagen, Denmark, describe the use of machine learning techniques to develop a method of classifying therapeutic oligonucleotides based on their DNA sequence and modification patterns. Computers create a classification scheme linking this variation to a compound's potential to cause liver toxicity.

In the article "Hepatotoxic Potential of Therapeutic Oligonucleotides Can Be Predicted from Their Sequence and Modification Pattern," the authors demonstrate the use of this approach to predict the hepatotoxicity of a validation set of oligonucleotides with 74% accuracy. They also use the classifier scheme to identify a therapeutic oligonucleotide with high potential liver toxicity and show how the drug could be redesigned to reduce its potential toxicity.

"As is true of all potential therapeutic entities, whether small molecules or nucleic acid-based drugs, it is critical to understand as much as possible about possible toxic effects before proceeding to clinical trials," says Executive Editor Fintan Steele, PhD, SomaLogic, Inc., Boulder, CO. "The approach described by these authors holds great promise for maximizing the safety of in vivo testing and, we hope, the eventual clinical use of these new antisense-based compounds."

###

Nucleic Acid Therapeutics is under the editorial leadership of Co-Editors-in-Chief Bruce A. Sullenger, PhD, Duke Translational Research Institute, Duke University Medical Center, Durham, NC, and C.A. Stein, MD, PhD, City of Hope National Medical Center, Duarte, CA; and Executive Editor Fintan Steele, PhD (SomaLogic, Boulder, CO).

About the Journal

Nucleic Acid Therapeutics is an authoritative, peer-reviewed journal published bimonthly in print and online that focuses on cutting-edge basic research, therapeutic applications, and drug development using nucleic acids or related compounds to alter gene expression. Nucleic Acid Therapeutics is the official journal of the Oligonucleotide Therapeutics Society. Complete tables of content and a free sample issue may be viewed on the Nucleic Acid Therapeutics website.

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Can toxicity of a DNA drug be predicted and minimized?

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By Eric Langer, president and managing partner, BioPlan Associates, Inc.

Technological advances in genetic engineering, particularly expression systems (the genetically modified cells that express desired proteins), process design, and equipment continue to be combined such that the same amount of drug product can be manufactured at a much smaller scale. Today, smaller-scale, less-expensive equipment is permitting more rapid drug development and production in smaller facilities.

This years 10th Annual Report and Survey of Biopharmaceutical Manufacturing Capacity and Production continues to show overall increased productivity and efficiency in biomanufacturing. The average expression yield (amount of protein produced in a fixed bioreactor fluid volume), exemplified by mammalian cell culture production of monoclonal antibodies, is now reported to be 2.68 grams/Liter for late-stage clinical supplies manufacturing and 2.29 grams/Liter for commercial-scale manufacturing. These production yields have been increasing since 2008 at an average annual growth rate of 9.8 percent. This almost exclusively involves cell culture using Chinese hamster ovary (CHO) cells. With CHO serving very well and major changes generally avoided in this highly regulated industry, adoption of other and improved expression systems, despite offering further advantages, remains slow.

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The personalised medicine diagnostics market has been forecast to increase at a compound annual growth rate (CAGR) of 4.43% through 2016, driven by the increasing demand for personalised medicine for treating cancer, and the increase in the number of industrial activities.

One of the main trends witnessed in the personalised medicine diagnostics market is the development of innovative tools and technologies. For instance, AssureRx Health Inc. launched GeneSightRx ADHD in May 2012, a personalised medicine test for the growing number of children and adults diagnosed with ADHD.

Moreover, Bristol-Myers Squibb Co. collaborated with MMRF in December 2012 for advanced personalised medicine for multiple Myeloma. Alacris Theranostics GmbH entered into an agreement with GlaxoSmithKline plc in November 2012 to use ModCell system for early stage cancer research.

Furthermore, AltheaDx Inc. launched FLT3 Mutation Assay in October 2012. Agendia N.V. launched ColoPrint microarray-based 18-gene expression signature in June 2012 to predict the risk of distant recurrence for stage II colon cancer patients. The European Medicines Agency approved Zelboraf, manufactured by F. Hoffmann-La Roche Ltd., in December 2011.

Personalised medicine is a medical model that proposes the customization of healthcare - with medical decisions, practices, and/or products being tailored to the individual patient. The use of genetic information has played a major role in certain aspects of personalised medicine, and the term was even first coined in the context of genetics.

To distinguish from the sense in which medicine has always been inherently "personal" to each patient, personalised medicine commonly denotes the use of some kind of technology or discovery enabling a level of personalisation not previously feasible or practical.

One of the main challenges the industry faces is the low awareness regarding personalised medicine diagnostics in developing countries. The majority of patients in developing countries such as India and China are not fully aware of the recent developments in personalised medicine diagnostics. The high cost of personalised medicine diagnostics in certain treatments is another major challenge for the market in these countries.

Key players currently dominating the personalised medicine diagnostics market include Abbott Laboratories, Agilent Technologies Inc., Becton Dickinson and Company, bioMerieux SA, Illumina Inc., and Roche Holding AG.

For more information on the personalised medicine diagnostics market, see the latest research: Personalised Medicine Diagnostics Market

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Personalised medicine diagnostics market to increase at a CAGR of 4.4%

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August 29, 2013

redOrbit Staff & Wire Reports Your Universe Online

By creating a model of genetic code evolution, researchers have discovered new information about how RNA signaling could have developed into the near-optimal modern genetic code.

Lead author Justin Jee, a doctoral student at NYU School of Medicine, and colleagues set out to account for the composition of the genetic code, which makes it possible for proteins to be constructed from amino acids with high specificity based on information stored in a RNA or DNA genome.

Our model shows that todays genetic code probably resulted from a combination of selective forces and random chance, Jee said. His teams research, which they say could help explain the complexities of the origins of life, appears in the latest edition of the Journal of the Royal Society Interface.

The translation process between nucleic acids and amino acids is largely universal a phenomenon the researchers refer to as mysterious and remarkable. The same code is shared in all types of organisms, ranging from bacteria to humans, and at the same time it is nearly perfect in terms of how well it is able to select the correct type of amino acids for specific particular nucleic acid sequences.

Ever since the code was first discovered some five decades ago, experts have wondered how a near-optimal code also became so universal in nature. In order to try and discover the answer, Jee and his associates crafted a model of genetic code evolution in which multiple translating RNAs and genomic RNAs competed for survival. The translating RNAs were able to link amino acids together using data stored in the genomic RNA, they explained.

In running computer simulations of RNA interactions, they could see two phenomena. First, it was necessary for the translating and genomic RNAs to organize into cells, which aided the coordination of a code between the translating and genomic RNAs. Second, selective forces led a single set of translating RNAs to dominate the population, the university said. In other words, the emergence of a single, universal, near-optimal code was a natural outcome of the model. Even more remarkably, the results occurred under realistic conditions specifically, they held under parameters such as protein lengths and rates of mutation that likely existed in a natural RNA world.

The most elegant ideas in this paper are rather obvious consequences of a well-studied model based on sender-receiver games, added senior author Bud Mishra of the NYU School of Medicines Sackler Institute of Graduate Biomedical Sciences. Yet the results are still very surprising because they suggest, for example, that proteins, the most prized molecules of biology, might have had their origin as undesirable toxic trash. Other studies based on phylogenomic analysis seem to be coming to similar conclusions independently.

In addition to Jee and Mishra, study co-authors included Andrew Sundstrom of the Courant Institute and Steven Massey of the University of Puerto Ricos Department of Biology. The research was funded by grants from the National Science Foundation (NSF) and a National Defense Science and Engineering Graduate Fellowship from the US Department of Defense.

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Model Of 'Near Optimal' Genetic Code Created By NYU Researchers

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Public release date: 27-Aug-2013 [ | E-mail | Share ]

Contact: Todd Datz tdatz@hsph.harvard.edu 617-432-8413 Harvard School of Public Health

Boston, MA A newly discovered genetic variant may increase the risk of heart disease in people with type 2 diabetes by more than a third, according to a study led by researchers at Harvard School of Public Health (HSPH) and Joslin Diabetes Center. It is the first genome-wide association study (GWAS) to identify a novel genetic variant associated with coronary heart disease (CHD) in people with type 2 diabetes, who have a two- to four-fold higher risk of heart disease compared with those without diabetes. The finding could lead to new interventions aimed at preventing or treating CHD among patients with type 2 diabetes.

"This is a very intriguing finding because this variant was not found in previous genome-wide association studies in the general population," said lead author Lu Qi, assistant professor in the HSPH Department of Nutrition and assistant professor at the Channing Division of Network Medicine, Brigham and Women's Hospital. "This means that the genetic risk factors for cardiovascular disease may be different among those with and without diabetes."

"The identification of this genetic variant opens up the possibility of developing treatments that are specifically aimed at breaking the links between diabetes and CHD," said co-lead author Alessandro Doria, associate professor in the Department of Epidemiology at HSPH and a researcher at Joslin Diabetes Center.

The study appears online August 27 and will appear in the August 28, 2013 issue of JAMA (Journal of the American Medical Association).

More than 370 million people worldwide have type 2 diabetes and CHD is the leading cause of death among diabetic patients. Overall CHD-related mortality has been declining in the United States and other industrialized countries over the past few decades. But CHD deaths that are diabetes-related are on the rise because of the increasing prevalence of the latter ailment. Although prior genome-wide studies have found many genetic variants for CHD in people in the general population, no such study had examined genetic determinants for CHD specifically in those with type 2 diabetes.

For their analysis, the researchers used data from several long-term studies: the Nurses' Health Study, the Health Professionals Follow-up Study, the Joslin Heart Study, and two Italian studiesthe Gargano Heart Study and the Catanzaro Study. They looked at 4,188 diabetic patients, including 1,517 with CHD and 2,671 without CHD as a control group.

Testing more than 2.5 million genetic variants, the researchers found that a variant near the GLUL gene, a gene that encodes a key enzyme regulating the conversion of glutamic acid to glutamine, was consistently associated with a 36% increased risk of CHD in people with diabetes. There was no association between this variant and CHD risk in study participants without diabetes.

They also found that the variant may interfere with the expression of a gene that regulates blood levels of amino acids involved in insulin secretion and glucose metabolismkey functions that go awry in those with type 2 diabetes.

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Genetic variant identified that may increase heart disease risk among people with type 2 diabetes

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Aug. 25, 2013 Of the over 1,900 errors already reported in the gene responsible for cystic fibrosis (CF), it is unclear how many of them actually contribute to the inherited disease. Now a team of researchers reports significant headway in figuring out which mutations are benign and which are deleterious. In so doing, they have increased the number of known CF-causing mutations from 22 to 127, accounting for 95 percent of the variations found in patients with CF.

In a summary of their research to be published online in Nature Genetics Aug. 25, the scientists say that characterizing those additional mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene will not only bring certainty to families about a CF diagnosis or carrier status, but will also accelerate the design process for new drugs tailored to a particular mutation. There already is one such individualized drug on the market.

"Since not all mutations cause disease, sequencing the DNA in both copies of your CFTR gene and finding an abnormality in one wouldn't tell us if you are a carrier for CF unless we knew if that abnormality causes CF," says Garry Cutting, M.D., professor of pediatrics in the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. "Until this new work, more than a quarter of couples in which both partners were found to carry a CFTR mutation were left wondering if their mutations were going to affect their offspring. Now it's down to 9 percent," he says.

CF is the most common, lethal, recessive genetic disease affecting Caucasians, with approximately 70,000 to 80,000 cases worldwide. When two copies of a defective CFTR gene are inherited, one from each parent, a child's body will not be able to create working CFTR proteins, resulting in the production of thickened mucus, which clogs the lungs and digestive system. Modern treatments to unclog the lungs and address other symptoms have allowed patients to survive into adulthood, but most will still die prematurely of lung disease.

One in 30 Caucasians in the United States is a "carrier" of the disease, meaning their genomes include one abnormal copy of the CFTR gene but they experience no symptoms of the disease, and as many as a million Americans are tested each year for carrier status. If two carriers have children together, each child has a 1-in-4 chance of inheriting two bad copies of CFTR and suffering from the disease. The severity of the disease will depend on which particular gene variations are inherited and how they affect the functioning of the CFTR protein.

In 2012, a drug (ivacaftor) that enhances the function of one specific mutant form of the protein became available. Although the particular mutation targeted is only found in 4 percent of patients with CF, drug companies are already working on drugs to target mutant proteins resulting from other mutations.

"There is very important information in each of these naturally occurring mutations that teaches us more and more about the disease," says Patrick Sosnay, M.D., assistant professor of pulmonary and critical care medicine. "We want to get to a point where we can say, 'This is your mutation, this is what it means and this is how you can treat it.'"

The team began its study with a database containing the genetic information of nearly 40,000 patients with CF. It then examined the 159 mutations that occurred in the database at a frequency of at least 0.01 percent. (Most of the more than 1,900 known mutations are even more rare than that.) The research team analyzed each of these mutations to determine its clinical relevance and its effect on the work of the CFTR protein.

The impact of each mutation on patients' health was assessed by first examining data on the salt concentrations in the sweat of patients bearing each particular mutation. CF causes unusually high amounts of salt to appear in sweat, so a mutation was deemed clinically significant if patients carrying that mutation had high reported salt concentrations.

The team then looked at how each genetic error affected the protein made by the CFTR gene. Eighty of the mutations would prevent the production of any CFTR protein based on the location of the mutation. These were classified as disease-causing, Cutting said. The remaining 77 mutations were tested biochemically in cells to determine the amount of damage sustained by the CFTR protein in each case.

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Aug. 29, 2013 A Cleveland Clinic researcher has discovered a genetic mutation in a drug-resistant -- and often deadly -- form of prostate cancer.

The mutation occurs in the androgen-synthesizing enzyme 3HSD1 in castration-resistant prostate cancer (CRPC), according to research published online today in Cell. This mutation enables the tumor to make its own supply of androgens, a hormone that fuels the growth of the prostate cancer.

Prostate cancer requires a constant supply of androgens in order to sustain itself. The current standard of care for patients with metastatic prostate cancer is medical castration, the ability to interfere with the body's production of testosterone (androgens) using medications that disrupt the process. Oftentimes, metastatic prostate cancer flourishes despite the lack of testosterone in the bloodstream, creating CRPC. These tumors are able to exist without the body's supply of testosterone by creating androgens within the tumor cell; however, increased androgen synthesis has not yet been attributable to any known mutations. The Cleveland Clinic discovery shows that the 3HSD1 mutation makes this enzyme hyperactive to create androgens.

"This discovery gives us the ability to identify molecular subtypes of prostate cancer known to resist treatment. By finding the mutated enzyme, we can now investigate treatments that block it. This kind of strategy is the crux of personalized medicine which is currently used as the standard of care for some forms of lung cancer and melanoma," said Nima Sharifi, MD, Kendrick Family Chair for Prostate Cancer Research at Cleveland Clinic, who led the research.

The 3HSD1 mutation can occur within CRPC tumors and it can also come from germline DNA, which is inherited from maternal and paternal sources.

The research found that laboratory models of human prostate cancer fall into two categories of androgen synthesis: those that make androgens slowly and those that do so rapidly. Next, they found that the 3HSD1 mutation explains the difference between these two categories and that DNA from some patient tumors also contains this mutation. The mutation works by opening the floodgates to androgen synthesis, essentially throwing fuel on the fire that promotes tumor progression.

In an era of personalized cancer care, there is increased focus on defining and treating cancer by its genetic abnormalities. Tumor-promoting enzyme mutations in several cancers have been identified and, subsequently, have led to the development of targeted drug therapies, improving outcomes for patients.

"The past decade has seen an explosion of molecularly targeted therapies that are matched to specific mutations in a given patient's tumor," says Dr. Sharifi. "However, no drug-targeting based on enzyme mutations exists for the standard treatment of metastatic CRPC. With this finding, we have the opportunity for matching a mutant disease-driving biomarker with a pharmacologic inhibitor."

Prostate cancer is the most common cancer in men, with nearly 240,000 new cases diagnosed each year in the United States. According to the American Cancer Society, there will be an estimated 30,000 deaths due to prostate cancer in 2013. Almost every man who dies of prostate cancer dies with castration-resistant prostate cancer.

This research was funded by Prostate Cancer Foundation, American Cancer Society, Department of Defense, Howard Hughes Medical Institute and National Cancer Institute.

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Newswise Vanderbilt has added genetic screening for the drug tacrolimus to its personalize medicine pharmacogenomics program PREDICT. The new drug screening protocol was added following data that shows a single genetic variation largely impacts different dose requirements for patients.

Tacrolimus is one of the most commonly prescribed drugs for organ transplant recipients and is essential for patients receiving new hearts, kidneys and other organ transplants because the drug suppresses the bodys immune system to prevent organ rejection. The drug however can have potentially harmful side effects if not used in precise amounts. Genetic testing through PREDICT offers important benefits to Vanderbilts patients due to the variance in individuals requirements for how much tacrolimus is needed to prevent organ rejection. PREDICT provides Vanderbilts patients a personalized pharmacologic profile tailored to each patient.

Marketed as Prograf, tacrolimus has a narrow therapeutic window. If too little of the drug is used acute transplant rejection may occur. Too much can cause serious side effects, including a form of diabetes and squamous cell skin cancer.

This is an example of a striking variation in genetics by ancestry, said Dan Roden, M.D., assistant vice chancellor for Personalized Medicine. For example, African Americans are more likely to require higher doses of tacrolimus.

More than 2,800 Vanderbilt patients have been found to carry this genetic variation and more than 600 of them are adults who have received or are awaiting heart or kidney transplants.

This information is now included routinely in the electronic health record. Doctors who prescribe tacrolimus receive notifications that they may need to adjust the dose if their patients carry the genetic variation.

Tacrolimus is the fifth drug for which pharmacogenomic information is included in the patients electronic health record at Vanderbilt. The other drugs are the anti-platelet drug clopidogrel (Plavix), the anti-coagulant warfarin, the cholesterol-lowering drug simvastatin (Zocor), and thiopurine therapies, which are used to treat certain cancers and autoimmune disorders.

Since it was launched in August 2010, PREDICT has genotyped more than 14,000 Vanderbilt patients for 184 different genetic variations that affect the bodys response to various drugs.

More than 12,000 of the patients, 88 percent, have genetic variations that increase their risk of adverse effects from one or more of the five drugs currently included in the electronic health record, said Julie Field, Ph.D., PREDICT project manager.

As the value of genetic testing becomes established for other drugs, this information will be added, Field said.

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Transplant Drug Added To Vanderbilt's PREDICT Personalized Medicine Program

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GAITHERSBURG, Md. , Aug. 26, 2013 /CNW/ - GeneDx, one of the world's foremost genetic testing laboratories and a wholly-owned subsidiary of Bio-Reference Laboratories, Inc. (BRLI) has announced the launch of a comprehensive suite of genetic tests for inherited cancer, including a 26-gene panel for breast and ovarian cancer that includes BRCA1 and BRCA2 and next generation sequencing based multi-gene panels for colorectal cancer, pancreatic cancer, and endometrial cancer.

GeneDx, the first commercial laboratory to utilize next generation sequencing technologies in a CLIA-environment, is among only a handful of commercial labs in the U.S. currently offering testing for inherited cancer. The laboratory will begin accepting specimens immediately.

The test offerings include a rapid turn-around test of the BRCA1 and BRCA2 genes combining sequencing and deletion/duplication analysis; an Ashkenazi Jewish panel for the three common Ashkenazi Jewish founder mutations in BRCA1 and BRCA2; a 26-gene panel for breast and ovarian cancer; an 18-gene panel for pancreatic cancer; an 18-gene panel for colorectal cancer; and an 11-gene panel for endometrial cancer. The test panels, which are marketed as OncoGeneDx, also include a Comprehensive Cancer Panel of 35 genes. All panels include deletion/duplication assessment.

The OncoGeneDx panels utilize the most current data on all the highly penetrant genes associated with inherited cancer, providing rapid results at typically no greater cost than testing for a single gene. GeneDx's OncoGeneDx panels are the most comprehensive on the market today.

Sherri Bale , Ph.D., Managing Director of GeneDx stated, "We are excited to be launching this suite of tests, as we can now bring our extensive experience in genetic testing along with cutting-edge technologies to bear on this very important public health problem that has tremendous impact on patients and their families. They deserve the best that the genetic testing community can provide them, and we are able to do that."

Marc Grodman M.D ., Bio-Reference CEO, announced, "The mission of GeneDx is to help clinicians diagnose complex inherited diseases in an efficient manner. It is part of a larger vision to reconcile technological and scientific advances in testing with our long-standing commitment to appropriate genetic medicine. The introduction of our inherited cancer panels is a natural progression in our ongoing dedication to providing better solutions for both clinical genetic diagnostics and cancer care.

We focus on offering clinically relevant gene panels based on the patient's cancer and family history and provide comprehensive testing to allow patients and their providers to have the most accurate information to guide cancer treatment and prevention. In addition, we are not limited to a single technology for mutation detection. We use all appropriate technologies necessary to answer the clinical question."

Although BRCA1/2 gene sequencing has been available for many years, comprehensive evaluation for deletions and duplications in those genes was launched only recently and has not been available to many patients due to payer restrictions. The OncoGeneDx panels include deletion/duplication analysis of genes in each panel at no additional charge. "Among patients with breast cancer and a significant family history of cancer who test negative for BRCA1 and BRCA2, approximately 12% can be expected to carry a large genomic deletion or duplication in one of these genes. Effective methods for identifying these mutations should be made available to women at high risk," as reported by Walsh T., et al (JAMA, 2006).

Patients who previously had BRCA1/2 testing can now get a "second opinion" to confirm their test results. Second opinion testing may be helpful for women considering prophylactic removal of healthy organs to reduce the risk of cancer, as well as for women who have received an ambiguous result from previous testing or normal results with a strong family history of breast and ovarian cancer.

The OncoGeneDx Breast/Ovarian next-generation sequencing panel is the most comprehensive test available today for patients with hereditary breast/ovarian cancer, including all known genes with a significant risk for hereditary breast or ovarian cancer. This test may be useful to patients who previously had normal BRCA1/2 test results with a significant family history of breast or ovarian cancer.

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GeneDx Introduces Advanced Genetic Test Panels for Inherited Cancer Including Breast and Colon Cancer

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LOS ANGELES, Aug. 26, 2013 (GLOBE NEWSWIRE) -- Response Genetics, Inc. (RGDX), a company focused on the development and sale of molecular diagnostic tests for cancer, today announced the acquisition of all of the key assets of Pathwork Diagnostics, including its FDA-cleared, Medicare-reimbursed test for the diagnosis of metastatic, poorly differentiated and undifferentiated cancer.

Terms of the deal include a $200,000 cash payment and issuance of 500,000 shares of Response Genetics common stock with a lock-up period through June 2014. The Company expects the deal to be accretive within its first full year of acquisition.

The acquired assets and associated test use a proprietary microarray platform and proprietary software to compare the expression of 2,000 genes in a patient's tumor with a panel of 15 known tumor types that represent 90% of all cancers. The test received FDA clearance in June 2010 and is the most published, extensively validated molecular diagnostic test of its kind. Prior to its acquisition by Response Genetics, the test generated rapidly growing sales including 2012 sales dollar volume in the mid-seven figure range.

The identity of most tumors can be determined using traditional methods. However, when tumors are poorly differentiated or metastatic with no clear primary origin, providing a definitive diagnosis is usually very difficult or nearly impossible to determine. It is estimated that up to 150,000 newly-diagnosed cancer patients annually, in just the U.S., may have a tumor for which the site of origin is uncertain after the initial diagnostic workup.

"Hard-to-identify tumors pose a significant clinical problem," said Thomas Bologna, Chairman and Chief Executive Officer of Response Genetics. "The traditional approach -- iterative rounds of testing -- may take weeks and still not definitively identify the type of cancer present. This proprietary gene expression approach that we acquired reduces the time to diagnosis and increases physicians' probability of reaching a definitive diagnosis, a necessary step in therapy selection, and it is well accepted that minimizing the waiting time before treatment maximizes patient outcomes."

Mr. Bologna added, "This acquisition is consistent with our goal to rapidly grow Response Genetics both organically and through a series of acquisitions. Acquiring the assets of Pathwork Diagnostics adds proprietary, Medicare reimbursed content that we believe addresses the needs of both pathologists and oncologists, further expands both our technology and testing base, leverages our current infrastructure well and most importantly adds to the top line growth of our Dx business."

For further transaction details, please refer to the Company's Form 8-K related to the transaction that will be filed with the Securities and Exchange Commission no later than August 29, 2013.

About Response Genetics, Inc.

Response Genetics, Inc. (the "Company") is a CLIA-certified clinical laboratory focused on the development and sale of molecular diagnostic testing services for cancer. The Company's technologies enable extraction and analysis of genetic information derived from tumor cells stored as formalin-fixed and paraffin-embedded specimens. The Company's principal customers include oncologists and pathologists. In addition to diagnostic testing services, the Company generates revenue from the sale of its proprietary analytical pharmacogenomic testing services of clinical trial specimens to the pharmaceutical industry. The Company's headquarters is located in Los Angeles, California. For more information, please visit http://www.responsegenetics.com.

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NASHVILLE, Tenn.--(BUSINESS WIRE)--

Insight Genetics, Inc. today announced it has received a Phase II Small Business Innovation Research (SBIR) contract from the National Cancer Institute (NCI) to continue its development of a diagnostic test that meets the significant unmet need for the diagnosis and treatment of non-small cell lung cancer (NSCLC).

A continuation of work that Insight Genetics began with the NCI in 2012, the $1,499,412 Fast-Track contract will advance the development of a panel of assays designed to provide a fast and accurate way to identify and characterize oncogenic ROS1, RET and DEPDC1 in a population of NSCLC patients who are triple negative for mutations in EGFR, KRAS, or ALK. Collectively, ROS1 and RET fusions, along with DEPDC1 expression, have been estimated to constitute up to 9 percent of all NSCLC cases, and people who carry these biomarkers are among those with the poorest prognoses.

According to the American Lung Association, nearly 375,000 Americans are living with lung cancer. The U.S. Centers for Disease Control and Prevention estimate that lung cancer accounts for nearly 30 percent of all cancer deaths each year, making it the deadliest form of cancer today.

ROS1, RET and DEPDC1 are important biomarkers in the fight to improve outcomes for those with lung cancer, said David Hout, Ph.D., Insight Genetics Vice President of Research and Development. Cancer therapies targeting these genetic markers have shown great promise, but we need effective and robust diagnostics to help identify the patients who can benefit from these treatments. Our team is delighted to continue our collaboration with the NCI to create companion diagnostic tests that can make this possible.

Companion diagnostic tests such as those Insight Genetics is developing allow physicians to screen cancer patients for particular biomarkers, such as genetic mutations or dysregulation of gene expression. The results can indicate if a targeted therapy is more likely to be effective for a patient and provide indication on the most tolerable and effective dose. Such tests also can help physicians monitor the ongoing effectiveness of targeted medications and help them to determine when a new treatment might be necessary.

There are several therapies targeting RET and ROS1 with fewer yet also promising strategies against DEPDC1 in development. ARIADs Iclusig (ponatinib), Bayers Nexavar (sorafenib), and Exelexis Cometriq (cabozantinib) target RET. Compounds at different stages of clinical development that target ROS1 include Pfizers Xalkori (crizotinib), ARIADs AP26113, Syntas HSP90 inhibitor ganetespib, and Xcoverys X-396. DEPDC1/MPHOSH1 peptide vaccines are currently in Phase I/II clinical trials. Unfortunately, there are currently no regulatory-approved, high-throughput commercial diagnostics to reliably and efficiently identify these biomarkers.

As part of its Phase II contract, Insight Genetics will continue analytical and clinical validation of its three real-time qPCR-based NSCLC assays: Insight ROS Screen, Insight RET Screen, and Insight DEPDC1 Screen. Initial experiments have demonstrated that these proprietary tests are highly sensitive and specific, offering results within 24 hours. This is a significant contrast to fluorescence in situ hybridization (FISH) detection assays for ROS1 and RET, which are costly, typically less sensitive, and take between 3-7 days to provide results.

This SBIR award is Insight Genetics fifth contract and second consecutive Phase II contract from NCIs Companion Diagnostics program.

About Insight Genetics

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Insight Genetics Awarded National Cancer Institute Contract to Advance Lung Cancer Diagnosis and Treatment

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DETROIT, Aug. 30, 2013 /PRNewswire/ --Genesis Genetics, the world's leading expert on pre-implantation genetic diagnosis and screening (PGD and PGS), has selected Tony Gordon, Ph.D., as lab director (U.K) and vice president (U.S.). As a registered clinical scientist in the U.K., Gordon will sign off on all patient reports and lead efforts to expand Genesis Genetics' testing operations throughout that country. In his role as vice president, Gordon will oversee scientific development, sales and marketing, and provide consultations on cytogenetics to U.S. labs. He will also be instrumental in expanding reproductive health services throughout the organization by developing a global laboratory group to explore new technologies and diagnostic tests.

Prior to his role at Genesis Genetics, Gordon worked at BlueGnome in the U.K. where he, in part with Genesis Genetics, led the development of 24sure-PGS (Preimplantation Genetic Screening), which has been shown to increase pregnancy rates and reduce miscarriages. He also contributed to the development and global uptake of the CytoChip, a postnatal cytogenetic mental retardation/development delay microarray test.

"Genesis Genetics is the most experienced PGD/PGS laboratory, running more tests for more disorders than any other lab in the world," said Gordon. "I'm proud to be a part of this unparalleled group of dedicated people whose goal is to improve pregnancy rates for patients and provide the highest standards of laboratory testing to all of our global labs."

Gordon received his Ph.D. from Nottingham University in the U.K., and completed seven years of post-doctoral work in molecular cytogenetics at the Institute for Cancer Research in Sutton, London. He has also authored numerous peer-reviewed scientific papers, articles and abstracts.

About Genesis Genetics Genesis Genetics, founded by world-renowned scientists largely responsible for discovering preimplantation genetic diagnosis (PGD) as a clinical practice, is the leading global provider of PGD and provides expert laboratory services for some of the most respected in vitro fertilization (IVF) centers across the country and throughout the world. Genesis Genetics has laboratories in Argentina, Brasil, Jordon, South Africa, Taiwan, United Kingdom, and the United States. For more information visit http://www.genesisgenetics.org

Contact: Dorothy Twinney Dorothy@rbdcreative.com Phone: +1 313-259-5507 Fax: +1 313-259-3474

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Alliance Group chairman Owen Poole presents Mimihau farmers George and Kathryn Smith with three awards, including the gold Alliance Group Limited Terminal Sire Overall award at the Sheep Industry Awards in Invercargill last week. Photo by Beef and Lamb New Zealand

An interest in genetics at school has been a part of George Smith's fibre for many decades.

As a farmer, his schoolboy lessons about dominant and recessive genes came into play when determining desirable traits in his sheep and he was recording genetic information about his flock during the 1970s before it was common to do so.

''Genetics came into [my] studies and I have tried to apply that to sheep,'' Mr Smith said.

Mr Smith farms 282ha on his family property at Mimihau with his wife Kathryn Smith and his son Hamish Smith.

The farm carries 3600 Texels and Texel/Romney/Coopworth composites on rolling hill country.

The couple celebrated 100 years of family ownership in July.

''It was basically just a commercial operation with a few cattle. In 1963 we bought in a few stud Romney ewes because of my interest in genetics,'' Mr Smith said.

The couple took over the farm, which was previously a partnership with his father and brother, in the early 1970s.

Initially he developed his own system for recording genetic traits in his sheep using a manual ledger.

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Genetics part of management parcel

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Aug. 29, 2013 Finnish researchers have identified a genetic mutation causing progressive retinal atrophy (PRA) in the Phalene and Papillon dog breeds. PRA is one of the most common causes of blindness in dogs and in human. This study highlights the shared genetic etiology of many canine and human genetic disorders, and provides new tools to investigate PRA mechanisms while the beloved dogs benefit from genetic testing.

Professor Hannes Lohi's research group at the University of Helsinki and Folkhlsan Research Center, Finland, has identified a mutation in CNGB1 gene, causing progressive retinal atrophy (PRA) in the Phalene and Papillon dog breeds. PRA is one of the most common causes of blindness in dogs and in human. CNGB1 mutations have been previously associated with the corresponding human disease, human retinitis pigmentosa. This study highlights the shared genetic etiology of many canine and human genetic disorders, and provides new tools to investigate PRA mechanisms while the beloved dogs benefit from genetic testing. The study was published in the scientific journal PLOS ONE on August 28, 2013.

Progressive retinal atrophies are common causes of blindness in human and dogs. PRA is caused by the degeneration of the photoreceptor cells, rods and cones, which are needed for dark and day light vision, respectively. PRA often progresses in stages from impaired dark vision to complete blindness. Typical retinal changes are visible in eye examination usually around 3 years of age. There are already 12 known PRA genes found in dogs.

Phalenes and Papillons have mutation in the same gene as human PRA patients

This study aimed to discover the genetic cause of PRA in the Phalene and Papillon breeds. Gene discovery was accomplished by only six PRA-affected dogs.

"Most PRAs, including the one in Phalenes and Papillons, are recessive and caused by single gene defects and small sample numbers can lead to breakthroughs. The symptoms in Phalenes and Papillons start at 5 years of age, and we found some younger genetically affected dogs, who are likely to get PRA later and should be carefully followed," explains corresponding author, professor Hannes Lohi.

New technology facilitates gene discovery

The new CNGB1 mutation in Phalenes and Papillons was discovered with six cases and 14 control dogs and confirmed in a larger cohort of dogs. Gene discovery was greatly facilitated by a new exome sequencing technology, which analyzes all protein-coding regions of the genome at once.

"The rapid advancement of gene technology greatly facilitates gene discovery. After gene mapping we had several candidate regions to choose but exome sequencing quickly identified the actual mutation. The same technology opens possibilities with many other eye conditions we are currently working on," explains lead author Saija Ahonen.

The mutation in Phalene and Papillon dogs was found in the gene, which has been linked to corresponding human retinal degeneration earlier.

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New PRA gene identified in dogs: Phalenes and Papillons

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DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/g2hdqj/gene_therapy) has announced the addition of Jain PharmaBiotech's new report "Gene Therapy - Technologies, Markets and Companies" to their offering.

Gene therapy can be broadly defined as the transfer of defined genetic material to specific target cells of a patient for the ultimate purpose of preventing or altering a particular disease state. Genes and DNA are now being introduced without the use of vectors and various techniques are being used to modify the function of genes in vivo without gene transfer. If one adds to this the cell therapy particularly with use of genetically modified cells, the scope of gene therapy becomes much broader. Gene therapy can now combined with antisense techniques such as RNA interference (RNAi), further increasing the therapeutic applications. This report takes broad overview of gene therapy and is the most up-to-date presentation from the author on this topic built-up from a series of gene therapy report written by him during the past decade including a textbook of gene therapy and a book on gene therapy companies. This report describes the setbacks of gene therapy and renewed interest in the topic

Profiles of 180 companies involved in developing gene therapy are presented along with 202 collaborations. There were only 44 companies involved in this area in 1995. In spite of some failures and mergers, the number of companies has increased more than 4-fold within a decade. These companies have been followed up since they were the topic of a book on gene therapy companies by the author of this report. John Wiley & Sons published the book in 2000 and from 2001 to 2003, updated versions of these companies (approximately 160 at mid-2003) were available on Wiley's web site. Since that free service was discontinued and the rights reverted to the author, this report remains the only authorized continuously updated version on gene therapy companies.

Benefits of this report

- Up-to-date on-stop information on gene therapy with 73 tables and 15 figures

- Evaluation of gene therapy technologies

- 740 selected references from the literature

- Estimates of gene therapy markets from 2012-2022

- Profiles of 180 companies involved and collaborations in this area

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Research and Markets: Gene Therapy - Technologies, Markets and Companies - Updated 2013 Report with 180 Company Profiles

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Nina Foundation #39;s role in spinal cord injury rehab. A motivational talk...,Founder Trustee...
Motivational Talk By Dr.Ketna Mehta In The Short Film Titled #39;Grit, Guts Going Places #39; By Sopan Mullar.

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Custom Kayak Designed for Spinal Cord Injury Patients
University of Utah Health Care #39;s Jeffery Rosenbluth, M.D., talks about a unique partnership between the rehabilitation center and the mechanical engineering ...

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Short video of Stem Cell Therapy Treatment for Muscular Dystrophy by Dr Alok Sharma Mumbai India
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Short video of Stem Cell Therapy Treatment for Limb Girdle Muscular Dystrophy by Dr Alok Sharma
Improvement seen in just 3 months after Stem Cell Therapy Treatment for Limb Girdle Muscular by Dr Alok Sharma, Mumbai, India. After Stem Cell Therapy 1. Num...

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Short video of Stem Cell Therapy Treatment for Cerebellar Atrophy by Dr Alok Sharma Mumbai India
Improvement seen in just 5 day after Stem Cell Therapy Treatment for Cerebral Atrophy by Dr Alok Sharma, Mumbai, India. After Stem Cell Therapy 1. Ball throw...

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Short video of Stem Cell Therapy Treatment for Peripheral Nerve Injury by Dr Alok Sharma Mumbai
Improvement seen in just 5 day after Stem Cell Therapy Treatment for Peripheral Nerve Injury by Dr Alok Sharma, Mumbai, India. After Stem Cell Therapy 1. Dee...

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Short video on Stem Cell Therapy Treatment for Spinal Cord Injury by Dr Alok Sharma Mumbai India
Improvement seen in just 3 months after Stem Cell Therapy Treatment for Spinal Cord Injury by Dr Alok Sharma, Mumbai, India. After Stem Cell Therapy 1. He ca...

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Short video on Stem Cell Therapy Treatment for Dopamine Responsive Dystonia by Dr Alok Sharma Mumbai
Improvement seen after Stem Cell Therapy Treatment for Dopamine Responsive Dystonia by Dr Alok Sharma, Mumbai, India. After Stem Cell Therapy 1. His neck and...

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Short video on Stem Cell Therapy Treatment for Duchenne Muscular Dystrophy
Improvement seen in just 3 months after Stem Cell Therapy Treatment for Duchenne Muscular Dystrophy by Dr Alok Sharma, Mumbai, India. After Stem Cell Therapy...

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