Archive for the ‘Gene Therapy Research’ Category

NEW YORK (Reuters) - An experimental therapy for a rare, often fatal genetic disorder appears to offer hope for infants and very young children with the condition, according to data from a small clinical trial reported in the New England Journal of Medicine on Wednesday.

The enzyme-replacement drug, asfotase alfa, acquired by Alexion Pharmaceuticals Inc with its $610 million purchase of Canada-based Enobia Pharma, could become the first approved treatment for the metabolic disease hypophosphatasia, or HPP.

The condition is a genetic enzyme deficiency that causes bone softening and muscle weakness and can lead to severe lung problems and damage to other vital organs. It affects about 1 in 100,000 newborns worldwide, according to the National Institutes of Health. About half of infants with a severe form of the disease do not survive beyond one year.

In the study of 11 babies and toddlers under three with life-threatening HPP, treatment with asfotase alfa resulted in "striking" improvements in skeletal problems and dramatic improvements in lung function and mobility, researchers reported.

"I'm thrilled to see babies who were really doomed responding to the treatment," Dr Michael Whyte, the study's lead investigator, said in a telephone interview.

"The therapy is proving not only life-saving but also health-restoring," added Whyte, of Shriners Hospitals for Children in St. Louis, who has been working on this ultra-rare disease for more than 30 years.

Videos accompanying the online version of the study in the New England Journal of Medicine show dramatic motor skill improvements of two of the trial subjects. In one, a three-year-old who was unable to stand prior to therapy is shown climbing the steps of a small plastic slide after 24 weeks of treatment.

Respiratory function improved in all patients, researchers said. Ten of the 11 needed breathing support before treatment. After 48 weeks of treatment, only three of the nine children who remained on therapy needed help breathing.

Breathing problems arise as the shape of the chest becomes deformed due to soft bones in the thorax, which compromises lung function, Whyte explained.

'SHE CAN STAND ON HER OWN'

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Alexion drug offers hope for rare, deadly disorder

SAN DIEGO, March 7, 2012 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM - News), a life sciences company providing innovative genetic analysis solutions, today reported total revenues of $15.5 million and $55.9 million for the fourth quarter and full-year of 2011, respectively. Net loss was $22.2 million, or $0.22 per share, and $74.2 million, or $0.75 per share, for the fourth quarter and full-year, respectively.

"2011 was a pivotal year for Sequenom as the Sequenom Center for Molecular Medicine launched its cornerstone MaterniT21(TM) prenatal laboratory-developed test and advanced a number of other important programs," said Harry F. Hixson, Chairman and CEO of Sequenom, Inc. "The positive uptake from the launch of the MaterniT21 LDT and increasing early volumes for testing services since has set the tone for our expected growth and expansion during 2012."

Fourth Quarter 2011 Performance

Fourth quarter revenues of $15.5 million in 2011 increased 13% over revenues of $13.8 million for the comparable period in 2010. Fourth quarter 2011 revenues from the genetic analysis operating segment were essentially flat year-over-year, while revenues from the Sequenom Center for Molecular Medicine (Sequenom CMM) diagnostics services operating segment grew more than 130% in the fourth quarter of 2011 from the prior year period.

Gross margin for the fourth quarter of 2011 was 46% as compared to gross margin of 62% for the fourth quarter of 2010. This difference reflects the increased costs associated with the nationwide launch of the MaterniT21(TM) LDT during the fourth quarter, in October of 2011.

Total operating expenses for the fourth quarter of 2011 were $29.0 million, as compared to total operating expenses of $30.7 million for the fourth quarter of 2010. Research and development expenses increased $2.6 million to $13.1 million for the fourth quarter of 2011, a change associated primarily with higher labor costs and an increase in consumables associated with additional T21 clinical studies. Selling and marketing expenses increased by $1.1 million to $9.1 million for the fourth quarter of 2011, resulting primarily from higher labor costs associated with the expansion of the Sequenom CMM sales force and the CLIA laboratory. Total stock-based compensation expense was $2.8 million for the fourth quarter of 2011, consistent with the $2.8 million in stock-based compensation recorded for the fourth quarter of 2010.

"Our 2011 year end results are demonstrative of our commitment to delivering on the priorities set early in the year. We met the major goals of our strategic plan, managing costs while establishing the groundwork for continued commercial expansion," said Paul V. Maier, Sequenom's CFO. "We have set new goals and are focusing on accelerating our growth and expansion in a number of important areas to maintain this positive trajectory in 2012. As a result of our recent financing, we are well capitalized to implement our expansion plans."

Full-Year 2011 Performance

The Company reported revenues of $55.9 million for the full-year 2011, an increase of 18% compared to revenues of $47.5 million for the full-year 2010. The Company will continue to account for product revenue from our diagnostic testing services on a cash basis until further experience is gained and additional internal and third party controls are established that will allow a reasonable estimate of collectable amounts to be made before moving to the accrual method of accounting.

Net loss for the full-year 2011 was $74.2 million or $0.75 per share, as compared to net loss of $120.8 million, or $1.69 per share for 2010.

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Sequenom, Inc. Reports Financial Results for the Fourth Quarter and Full-Year of 2011

WEDNESDAY, March 7 (HealthDay News) -- The genetic makeup of cancer cells differs significantly from region to region within a single tumor, according to new research that raises questions about the true potential of personalized cancer medicine.

With this treatment approach, doctors study a tumor's genetic makeup to determine which drugs would work best in a particular patient. But if the genetic mutations driving the cancer cells vary widely, a single tissue sample won't necessarily give the full picture.

This "targeted therapy" involves "sticking a needle into the primary tumor site and taking a small sliver of a tumor, doing a gene analysis, and creating a genetic profile of the tumor to predict how the tumor will behave," explained Dr. Dan Longo, an oncologist and deputy editor at the New England Journal of Medicine.

"What this paper tells us is that is an oversimplification of the complexity of tumors and their heterogeneity," he said. "If you look at different sites of the very same tumor and the very same person, one site might tell you a gene profile associated with a good prognosis and the other site will tell you a gene profile associated with a bad prognosis."

Longo wrote an editorial accompanying the new study, published in the March 8 issue of the New England Journal of Medicine.

In the study, scientists from Cancer Research UK London Research Institute took 13 biopsies, or tissue samples, from a patient whose kidney cancer had spread. The biopsies were from eight regions of the kidney tumor and four tumors in the chest and lungs.

Researchers also took normal tissue, sequenced the patient's genome and compared that to what they found in the biopsies.

Genetic analysis turned up 128 mutations in the tumors. But only about one-third, or about 40 of those mutations, were present in all of the biopsies.

"The majority of mutations are not shared in every biopsy," said senior study author Charles Swanton, a professor of cancer medicine at the research institute.

Swanton and his colleagues also analyzed tumor tissue samples from another three patients with kidney cancer. From a total of 30 biopsies from all four patients, 26 tissue samples had mutations that were highly heterogenous, or varied, from one another.

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Is Cancer Outwitting 'Personalized Medicine'?

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

Interleukin Genetics, Inc. (OTCQB: ILIU.PK - News) announced today the publication of a peer-reviewed study which found that Interleukin-1 (IL-1) gene variations are associated with increased risk of periodontal disease. The study, which appears on the Journal of Periodontologys website, in advance of appearing in the print edition, was led by Nadeem Y. Karimbux, D.M.D., Associate Professor of Oral Medicine, Infection and Immunity, Harvard School of Dental Medicine.

The study assessed the potential value of IL-1 genetic variations in the risk for developing severe periodontal disease. The IL-1 genetic variations in the published study are included in Interleukin Genetics PST Genetic Test, the first genetic test to analyze genes for variations that identify an individuals predisposition for over-expression of inflammation and risk for periodontal disease. Researchers reviewed 27 published studies on IL-1 genetics and periodontal disease from 1997 through June 2011 which examined Caucasian adults, 35 years or older with adult periodontal disease, to determine whether there was a significant association between the presence of the IL-1 gene variations and the severity and progression of periodontal disease. Thirteen studies qualified for the quantitative meta-analysis, which found significant effects for the two individual gene variations (IL1A OR=1.48; and IL1B OR= 1.54) and for a composite genotype that combines minor alleles at each locus (OR= 1.51). Some heterogeneity was evident, but there was no indication of publication bias.

This review and meta-analysis show that IL1A and IL1B genetic variations are significant contributors to chronic periodontitis in Caucasians, said Dr. Karimbux. Having this actionable information can assist dentists in establishing more aggressive treatment protocols for patients at increased risk.

Periodontal disease is caused by a chronic bacterial infection that activates inflammation which destroys the gums and bone supporting the teeth. If left untreated, periodontitis leads to tooth loss. Studies have shown that people with chronic and prolonged inflammatory periodontal disease are at an increased risk of several systemic conditions, such as heart disease, strokes, rheumatoid arthritis and certain chronic pulmonary diseases.

Periodontal disease is one of the most common chronic diseases worldwide, but fortunately most individuals develop only a mild form of periodontitis that when caught early, can be easily treated. We now know that approximately 8 to 13 percent of the adult population will develop more destructive forms of periodontitis, and most of those at risk can be identified early based on smoking, IL-1 genetics and diabetes, said Kenneth Kornman D.D.S., PhD., study author and Chief Scientific Officer of Interleukin Genetics. While additional studies should be undertaken to look at specific periodontal conditions and additional ethnicities, this study reaffirms the role genetics plays in adult oral and overall health.

About Interleukin Genetics, Inc. Interleukin Genetics, Inc. (OTCQB: ILIU.PK - News) develops and markets a line of genetic tests under the Inherent Health and PST brands.The products empower individuals to prevent certain chronic conditions and manage their existing health and wellness through genetic-based insights with actionable guidance. Interleukin Genetics leverages its research, intellectual property and genetic panel development expertise in metabolism and inflammation to facilitate the emerging personalized healthcare market. The Company markets its tests through partnerships with health and wellness companies, healthcare professionals and other distribution channels. Interleukin Genetics flagship products include its proprietary PST genetic risk panel for periodontal disease and tooth loss susceptibility sold through dentists and the Inherent Health Weight Management Genetic Test that identifies the most effective diet and exercise program for an individual based on genetics. Interleukin Genetics is headquartered in Waltham, Mass. and operates an on-site, state-of-the-art DNA testing laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA). For more information, please visit http://www.ilgenetics.com.

About PST The PST Genetic Test identifies individuals with increased risk for severe and progressive periodontal disease and significant tooth loss based on a proprietary panel of genetic variations that predispose an individual to over-express inflammation. In August 2010, Interleukin Genetics announced the initiation of a landmark clinical study on risk factors predictive of periodontal disease progression to tooth loss using a new version of the PST Genetic Test. This clinical studybeing conducted at the University of Michigan School of Dentistry and led by Dr. William Giannobile, Director of the Michigan Center for Oral Health Researchis designed to test whether risk factors, including genetic information, can guide more successful intervention and thus reduce the adverse outcomes of periodontal disease, such as tooth loss.

Certain statements contained herein are forward-looking statements, including statements that the clinical studies have the potential to expand the use of the PST Genetic Test. Because such statements include risks and uncertainties, actual results may differ materially from those expressed or implied by such forward-looking statements. Factors that could cause actual results to differ materially from those expressed or implied by such forward-looking statements include, but are not limited to, those risks and uncertainties described in the Interleukin Genetics annual report on Form 10-K for the year ended December 31, 2010 and other filings with the Securities and Exchange Commission. Interleukin Genetics disclaims any obligation or intention to update these forward-looking statements.

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Newly Published Meta-Analysis Study Finds that IL-1 Gene Variations Contained in Interleukin Genetics’ PST Test are ...

SAN MARINO, Calif.--(BUSINESS WIRE)--

Viral Genetics (Pinksheets: VRAL.PK - News) announced today that it has submitted a pre-IND briefing document to the US Food and Drug Administration (FDA) for its Lyme Disease drug candidate, VGV-L, marking important milestones for both the Company and its supporters in the Lyme community.

To our knowledge, this is the first novel drug candidate that has been proposed for study in the treatment of chronic Lyme Disease post-infection in quite some time. We are equally pleased that it represents the second drug candidate we have developed from our licensed Targeted Peptides platform, said Haig Keledjian, President of Viral Genetics. Our shareholders should be proud that our team managed to bring a drug candidate to this step of preliminary FDA review within about 30 months. Within the single Targeted Peptides platform, we are also developing candidates for treatment of sepsis, staphylococcus and streptococcus infection, multiple sclerosis and other conditions, while we continue to complete IND-enabling preclinical testing for our HIV/AIDS candidate.

The pre-IND submission provides extensive research information gathered by Viral Genetics researchers over a 2 year period of rigorous and detailed testing which resulted in positive results, to the FDA, along with a protocol for a proposed US human clinical trial designed under the guidance of a leading Lyme clinician at one of the nations top medical centers. Testing to date was conducted at the University of Colorado, Texas A&M University, Scott & White Hospital, and has been led by Viral Genetics Chief Scientist, Dr. M. Karen Newell-Rogers, with significant contributions from several clinicians.

The Company anticipates that the response to the pre-IND submission will be received in March-April 2012. While the FDAs written responses to pre-IND submissions are typically comprehensive, in some cases the need for additional clarification or discussion necessitates a meeting in person or by teleconference.

The written pre-IND response typically provides detailed insight into the FDA's concerns about available information on a particular drug being proposed for human testing in a particular patient population, and helps preempt any potential deficiencies that the FDA may find upon submission of the full IND application. This feedback acts as a kind of blueprint that guides the sponsors completion of the full IND towards attainment of FDA clearance to proceed with the proposed clinical trial. Post-submission of an IND, FDA reviewers may need clarifications or additional information before making a decision. FDA requirements for an IND include detailed information on all aspects of the proposed product such as manufacturing, preclinical and clinical testing, scientific background, proposed clinical development plan, clinical protocol, etc. This information needs to be presented in a format aimed towards clarifying the rationale of the proposed clinical trial, and for ease of review by the FDA reviewers.

Funding for some of the pre-clinical trial studies leading to the filing was initiated by Viral Genetics advisor, Richard Gerstner, former head of IBMs Asia operations and later the companys personal computer division. In April of 2011, Mr. Gerstner, who faced a long battle with Lyme during his tenure at IBM and his subsequent career in the venture capital arena, was a recipient, along with Dr. M. Karen Newell Rogers, of the Lauren F. Brooks Hope Award, given by the Time for Lyme Foundation. Since the commencement of Time for Lymes fundraising efforts in 2001, it has raised nearly $5 million and partnered with Columbia University Medical Center to create its Lyme and Tick-Borne Disease Research Center. Past recipients of the award include Nobel Laureate Dr. Luc Montagnier, also an advisory board member of Viral Genetics, and world-renowned pediatrician Dr. Charles Ray Jones.

This research was further supported by grants from the Time for Lyme and the Turn the Corner Foundation who both saw the promise in Dr. Newell-Rogers approach, helping it to reach this phase of development and the pre-IND filing. The proposed therapy, like several others in Viral Genetics R&D pipeline, is based on Targeted Peptide technology (TPT) and uses synthetic peptides to "trick" cells that may be responsible for harmful symptoms, making them vulnerable to the body's natural immune response mechanism.

Emphasizing the platform nature of the TPT approach, Dr. Newell-Rogers expanded on how TPT potentially may be targeted to a number of potential diseases or indications that have proved stubbornly resistant to more traditional approaches such as, in this case, chronic Lyme Disease. The idea behind our research is that those with a genetic blueprint that does not allow certain self-peptides to be processed or removed tend to mount a chronic inflammatory immune response that is not properly controlled. In terms of drug development, we believe that many diseases and chronic illnesses may be dependent in important ways on this harmful type of inflammation, Dr. Newell stated. Her theory proposes a targeted peptide to replace or remove certain self-peptides and hopefully restore a less harmful and more specific immune response in patients. The studies conducted by Viral Genetics aim to shed light on this chronic inflammatory response and symptoms shared by a significant subset of Lyme disease patients.

Currently there is no treatment for Lyme Disease once it has developed into its chronic, long-term state, other than antibiotics regimens which, while managing the disease for some of those infected, leaves untouched some of the symptoms for a significant portion of those suffering from this debilitating condition.

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Viral Genetics Submits Pre-IND Document for Lyme Disease Drug Candidate to FDA

Yesterday, the Mesothelioma Applied Research Foundation hosted a teleconference featuring Dr. Dan Sterman of the University of Pennsylvania Medical Center, who discussed the recent advances in mesothelioma gene therapy.

Washington, DC (PRWEB) March 07, 2012

The call was attended by nearly 100 people interested in learning more about progress recently made in mesothelioma treatment. The recording of the call is available on the Meso Foundations website, at http://www.curemeso.org/calls.

This call is part of Meso Foundations Meet the Experts series, which was created to provide mesothelioma patients, their families, and others interested with the most up-to-date mesothelioma information. Previous calls have included an interview with Dr. Lee Krug of Memorial Sloan-Kettering about using vaccines and manipulations of the immune system to prevent a mesothelioma recurrence.

Mesothelioma is a malignant tumor of the lining of the lung, abdomen, or heart known to be caused by exposure to asbestos. Medical experts consider it one of the most aggressive and deadly of all cancers. Approximately 3,000 Americans are diagnosed with mesothelioma every year, but accurate treatment information and help are very difficult to find.

The Meso Foundation is the leading organization dedicated to eradicating mesothelioma as a life-ending cancer by funding peer-reviewed mesothelioma research, providing patient support services and education, and advocating Congress for increased federal funding for research. Mesothelioma funding, per death, has historically been extremely low, and even as recently as 2010, the NCI reported that mesothelioma receives as little as 7 times less funding than other cancers. The Meso Foundation was founded in 2000 to address this imbalance and since then has independently funded over $7.6 million in peer-reviewed mesothelioma research. More information is available at http://www.curemeso.org.

For more information about the topics discussed in the Meet the Experts series or for information about mesothelioma treatment, patients and their loved ones are encouraged to contact Mary Hesdorffer, NP at mhesdorffer(at)curemeso(dot)org or by phone at (703) 879-3820.

Maja Belamaric Mesothelioma Applied Research Foundation (703) 879-3822 Email Information

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Meso Foundation Covers Recent Advances in Mesothelioma Gene Therapy in Teleconference

BOSTON - Scientists are reporting what could be very bad news for efforts to customize cancer treatment based on each person's genes.

They have discovered big differences from place to place in the same tumour as to which genes are active or mutated. They also found differences in the genetics of the main tumour and places where the cancer has spread.

This means that the single biopsies that doctors rely on to choose drugs are probably not giving a true view of the cancer's biology. It also means that treating cancer won't be as simple as many had hoped.

By analyzing tumours in unprecedented detail, "we're finding that the deeper you go, the more you find," said one study leader, Dr. Charles Swanton of the Cancer Research UK London Research Institute in England. "It's like going from a black-and-white television with four pixels to a colour television with thousands of pixels."

Yet the result is a fuzzier picture of how to treat the disease.

The study is reported in Thursday's New England Journal of Medicine.

It is a reality check for "overoptimism" in the field devoted to conquering cancer with new gene-targeting drugs, Dr. Dan Longo, a deputy editor at the journal, wrote in an editorial.

About 15 of these medicines are on the market now and hundreds more are in testing, but they have had only limited success. And the new study may help explain why.

The scientists used gene sequencing to a degree that has not been done before to study primary tumours and places where they spread in four patients with advanced kidney cancer. They found that two-thirds of gene mutations they detected were not present in all areas of the same tumour. They also were stunned to see different mutations in the same gene from one part of a tumour to another.

That means a single biopsy would reveal only a minority of mutations. Still, it's not clear whether doing more biopsies would improve accuracy, or how many or how often they should be done.

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Gene study suggests treating cancer is more complex than many had hoped

Washington, Mar 7 (ANI): Researchers have offered a potential insight into a known anti-cancer gene, which may also open the door to new therapeutic options that may aid weight loss and longevity in humans.

Mice with an extra dose of a known anti-cancer gene lose weight even as their appetites grow. Not only that, but according to the report, the animals also live longer, and that isn't just because they aren't getting cancer, either.

One of the animals' youthful secrets is hyperactive brown fat, which burns energy instead of storing it.

The findings add to evidence that tumour suppressors aren't designed only to protect us against cancer, the researchers say. They also point to new treatment strategies aimed to boost brown fat and fight aging.

"Tumor suppressors are actually genes that have been used by evolution to protect us from all kinds of abnormalities," said Manuel Serrano of the Spanish National Cancer Research Center.

In this case, the researchers studied a tumour suppressor commonly lost in human cancers. Mice with an extra copy of the gene known as Pten didn't get cancer, but that's not the half of it.

Those mice were also leaner, even as they ate more than controls, Serrano said. That suggested that the animals were experiencing some sort of metabolic imbalance-and a beneficial one at that.

Cancer protection aside, the animals lived longer than usual. They were also less prone to insulin resistance and had less fat in their livers.

Those benefits seem to trace back to the fact that those Pten mice were burning more calories thanks to overactive brown fat.

Studies in isolated brown fat cells confirmed that a boost in Pten increases the activity of those cells. Pten also made it easier for brown fat to form.

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Gene tweak shows promise to keep you cancer free and slim

WASHINGTON, DC--(Marketwire -03/05/12)- The Alliance for Regenerative Medicine issued the following statement today: "An article about stem cell treatments taking place in Texas published by Nature last week is extremely troubling. The article suggests that patients are being administered stem cell treatments that have not been systematically demonstrated to be safe and effective therapies through the established FDA regulatory process.

"Cell therapy treatments, including those using adult stem cells, hold the promise of providing patients with treatments and cures for numerous diseases and disabilities. However, FDA regulation is key to ensuring that the treatments available to patients are safe and effective.

"The Alliance for Regenerative Medicine (ARM), a non-profit organization whose mission is to promote increased funding and development of regenerative medicine products, believes cell therapy and regenerative medicine products, including autologous cell therapy products, must go through the rigorous safety testing that is part of the FDA regulatory process before they can be marketed to the public. These regulations are designed to promote safe collection, manufacture, storage, and use of human cells, and cellular and tissue based products. ARM members comply with these rules because they know that FDA oversight helps to prevent patients from exposure to potentially unsafe products.

"We urge all companies developing stem cell treatments to follow FDA rules governing research and product development. ARM remains committed to working with all stakeholders to ensure that safe and effective products reach patients as soon as possible."

About The Alliance for Regenerative Medicine (ARM) The Alliance for Regenerative Medicine (ARM) is a Washington, DC-based non-profit organization that promotes legislative, regulatory, reimbursement, and financing initiatives necessary to facilitate access to life-giving advances in regenerative medicine. ARM also works to increase public understanding of the field and its potential to transform human healthcare, and provides services to support the growth of its member companies and organizations. To learn more about ARM or to become a member, visit http://www.alliancerm.org.

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The Alliance for Regenerative Medicine Statement on Use of Cell Therapies Not Approved by the Federal Drug ...

Released: 3/5/2012 12:00 PM EST Embargo expired: 3/6/2012 2:30 PM EST Source: Laurantis Pharma

Newswise (Ventura, CA, March 6, 2012) Lymphedema Awareness Day was established to support the needs of patients with lymphedema and to raise awareness for the need to develop new treatment options. Today, researchers have presented investigational pre-clinical data on the first potential pharmacologic agent used in combination with surgery for the treatment of breast cancer associated lymphedema at the Gordon Research Conference for Molecular Mechanisms in Lymphatic Function & Disease.

Currently there is no advanced pharmacologically-based therapeutic for lymphedema, said Stanley G. Rockson, MD, Director, Center for Lymphatic and Venous Disorders, Stanford University School of Medicine, and Principal Investigator of the upcoming first in human trial for Lymfactin. Although the research Is still early, the preliminary data show a remarkable improvement in the ability to successfully conduct lymph node transplant surgery with the benefit of Lymfactin.

Lymphedema occurs in about 20 percent of the three million patients with breast cancer.The condition occurs from trauma to the lymph nodes, and blockages in the lymphatic system as a result of breast cancer treatment. The symptoms include painful swelling and inflammation of the limbs.

Turku, Finland-based Laurantis Pharma Oy is developing Lymfactin, a vascular endothelial growth factor C (VEGF-C) in an adenoviral vector, for the treatment of secondary lymphedema associated with breast cancer. The therapy with Lymfactin involves a surgical operation where a lymph node flap is harvested from the patients lower abdominal wall and injected with Lymfactin, which leads to the transient presence of the adenovirus containing the VEGF-C gene. The lymph node is then transferred to the axillary region.

This new treatment is very promising, said Wendy Chaite, Founder, Lymphatic Research Foundation, a national organization devoted to advancing lymphatic research and to finding improved treatments and cures for lymphedema and lymphatic diseases. Lymphedema is one of those seldom discussed but far too common conditions that biotech and pharmaceutical companies have yet to explore. Although this research is at an early stage, the lack of any advanced treatments makes this research all the more important for those who suffer from this condition.

Professor Kari Alitalo of the University of Helsinki who made the discovery that the growth factor VEGF-C regulates the growth and development of the lymphatic system in humans and other mammals, presented the findings. From this discovery and in association with his co-workers Dr. Tuomas Tammela and Dr. Anne Saaristo, they identified that if VEGF-C is injected into tissues in mice and subsequently in pigs, growth of new lymphatic vessels and the restoration of the lymphatic architecture is catalyzed. Previous studies have shown that transferring lymph nodes from the inguinal region to the axillary region in patients with secondary lymphedema following their treatment for breast cancer was found to offer a slight improvement in their condition. Removal of old scar tissue from the axilla is considered an important step of this procedure.

The team in Finland then went a step further and showed that by combining VEGF-C injections with lymph node transfer in animal models using mice and then pigs, the response seen was even better than lymph node transfer alone. The results in mice indicated that lymphedema treated with lymph node transfer alone resulted in about 20% improvement. However, when combined with the administration of VEGF-C, the overall response was increased to around 80%.

In collaboration with Dr Rockson, Dr Anne Saaristo, MD and Prof. Kari Alitalo, Laurantis researchers are developing a treatment to potentially enable much higher transfer success. The Company plans to start a phase I/II study in patients with breast cancer associated lymphedema in early 2013. Lymfactin is an investigational therapy and has not been approved by the U.S. Food and Drug Administration.

Target Indication: Breast Cancer Associated Lymphedema The impairment of lymphatic drainage caused by dysfunction of the lymphatic vasculature leads to an accumulation of proteins and associated fluid, and finally to lymphedema-a chronic progressive swelling of the affected tissues. Lymphedema can either be hereditary - in which case it is diagnosed as primary lymphedema - or it can occur as a consequence of a disease, trauma, surgery, or radiotherapy and-thereby diagnosed as secondary lymphedema.

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On Lymphedema Awareness Day, Researchers Present Pre-Clinical Data Offering Cautious Hope for Breast Cancer Patients ...

Research Explores the Role of the SRY Gene in the Male Fight-Or-Flight Response.

The pulse quickens, the heart pounds and adrenalin courses through the veins, but in stressful situations is our reaction controlled by our genes, and does it differ between the sexes?

Australian scientists, writing in BioEssays, believe the SRY gene, which directs male development, may promote aggression and other traditionally male behavioural traits resulting in the fight-or-flight reaction to stress.

Research has shown how the body reacts to stress by activating the adrenal glands which secrete catecholamine hormones into the bloodstream and trigger the aggressive fight-or-flight response. However, the majority of studies into this process have focused on men and have not considered different responses between the sexes.

Historically males and females have been under different selection pressures which are reflected by biochemical and behavioural differences between the sexes, said Dr Joohyung Lee, from the Prince Henrys Institute in Melbourne. The aggressive fight-or-flight reaction is more dominant in men, while women predominantly adopt a less aggressive tend-and-befriend response.

Dr Lee and co-author Professor Vincent Harley, propose that the Y-chromosome gene SRY reveals a genetic underpinning for this difference due to its role in controlling a group of neurotransmitters known as catecholamines. Professor Harleys earlier research had shown that SRY is a sex-determining gene which directs the prenatal development of the testes, which in turn secrete hormones which masculinise the developing body.

If the SRY gene is absent the testes do not form and the foetus develops as a female. People long thought that SRYs only function was to form the testes said Professor Harley. Then we found SRY protein in the human brain and with UCLA researchers led by Professor Eric Vilain, showed that the protein controls movement in males via dopamine.

Besides the testes, SRY protein is present in a number of vital organs in the male body, including the heart, lungs and brain, indicating it has a role beyond early sex determination, said Dr Lee. This suggests SRY exerts male-specific effects in tissues outside the testis, such as regulating cardiovascular function and neural activity, both of which play a vital role in our response to stress.

The authors propose that SRY may prime organs in the male body to respond to stress through increased release of catecholamine and blood flow to organs, as well as promoting aggression and increased movement which drive fight-or-flight in males. In females oestrogen and the activation of internal opiates, which the body uses to control pain, may prevent aggressive responses.

The role of SRY regulation of catecholamines also suggests the gene may have a role in male-biased disorders such as Parkinsons disease.

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Men Respond More Aggressively Than Women to Stress, and it’s All Down to a Single Gene

ScienceDaily (Mar. 6, 2012) Scientists from the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that a drug called fasudil can extend the average lifespan of mice with Spinal muscular atrophy (SMA) from 30.5 days to more than 300 days.

The study is published March 6 in BioMed Central's open access journal BMC Medicine, by Dr. Rashmi Kothary, his graduate student Melissa Bowerman and others.

SMA is the leading inherited cause of death in infants and toddlers, affecting approximately 25,000 people in Canada and the United States. Scientists have known for many years that this disease is caused by inherited mutations in a gene called survival motor neuron 1 (SMN1). Most early attempts at developing treatments for SMA focused on replacing this gene, however, Dr. Kothary's group has focused on understanding and targeting the physiological defects present in certain nerve cells with SMA. These cells have a weakened internal scaffold, which hinders their ability to connect with muscle cells and contributes to the severe muscle weakness associated with SMA.

Two years ago, Dr. Kothary and his team showed that a laboratory compound called Y-27632, which targets an enzyme that is involved in maintaining the cellular scaffold, could greatly increase lifespan in a certain mouse model of SMA. In this new study, they tested a compound called fasudil, which is similar to Y-27632, but has the advantage that it has already been approved for human clinical trials for other conditions, meaning that it could possibly be re-targeted to use in clinical trials for SMA more quickly than a completely new drug.

The Kothary group found that fasudil-treated SMA mice survived for an average of more than 300 days, compared to just 30.5 days for untreated SMA mice. However, the average lifespan of fasudil-treated SMA mice was still only about half as long as that of normal mice. Fasudil-treated SMA mice also had larger muscle fibres than the untreated SMA mice, and they behaved more normally with respect to grooming and other regular activities. However, they did not perform any better in strength and balance tests and they still had low numbers of motor neurons, which is typical for SMA.

"Our study is important because it expands a new area of research into SMA, which could lead to the development of new treatments," said Melissa Bowerman. "Of course, this research is still at the early stages and although we found that fasudil could significantly increase lifespan in a mouse model of SMA, this drug couldn't correct all the problems in these mice, and it had serious side effects when used at higher doses."

"A number of groups are working to develop fasudil-like compounds with fewer side effects, and we're very excited to see how these perform in our models, and hopefully in human SMA clinical trials some day," said Dr. Kothary "However, we continue to believe that SMA is a disease that will best be addressed using multiple strategies together, including nutrition and possibly drug, cell and gene therapies."

"Dr. Kothary's group has been a pioneer in SMA research, both in characterizing the impact of SMA on tissues and organs, and in discovering a novel therapeutic pathway involving enzymes that target the cell scaffold," said Dr. Alex MacKenzie, an expert in SMA at CHEO Research Institute and the University of Ottawa, who was not involved in the study. "It has to be said that this approach was not intuitively obvious and Dr. Kothary and his team are to be commended for their creativity in its discovery. It represents an important addition to the armamentarium of experimental SMA treatments."

Although fasudil has been approved by the U.S. Food and Drug Administration for use in certain adult human clinical trials, it is still considered experimental, and has not been approved for the treatment of any human condition in the United States or Canada. Individuals who are interested in experimental therapies should discuss this with their health care professional.

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New approach for treating genetic muscle wasting disease shows promise in mice

Public release date: 6-Mar-2012 [ | E-mail | Share ]

Contact: Dr. Hilary Glover hilary.glover@biomedcentral.com 44-203-192-2370 BioMed Central

Spinal muscular atrophy (SMA) is an incurable, and progressive, disease caused by an inheritable defect in the gene SMN1. Depending on the severity of the mutation it can result in the loss of spinal cord motor neurons, muscle wasting (atrophy) and even death of an affected child. A new study published in Biomed Central's open access journal BMC Medicine shows that Fasudil, a ROCK inhibitor, can improve both the size of muscle fibers and their connection to motor neurons. Fasudil also increased the lifespan and improved the movement of SMA mice.

SMA affects 1 in 6,000 births and is the leading cause of death in young children. In its less severe form the muscle wasting of SMA traps bright young children within their bodies. Researchers from the Ottawa Hospital Research Institute and the University of Ottawa realized that SMA caused problems in regulation of the ROCK intracellular signaling pathway and that inhibiting this pathway could increase the lifespan of SMA mice.

By targeting the ROCK pathway in spinal cord and muscles, Fasudil bypasses the genetic defect SMN1. Dr Kothary, who led the team, explained, "Fasudil increased the lifespan of SMA mice from 30 to 300 days, allowing them to survive well into adulthood. Although it had no apparent effect on the damaged neurons themselves, Fasudil increased muscle size and the endplate junction between muscles and their motor neurons. Consequently, the mice were also better coordinated, better groomed, and could move about more freely than untreated SMA mice."

Melissa Bowerman from the Ottawa Hospital Research Institute continued, "Finding a cure for SMA is still a long way off, however we hope that treatment with drugs like Fasudil, which goes some way towards restoring normal developmental, or HDAC inhibitors, which alter how genes are regulated, along with nutrition and physiotherapy will provide a package of therapy to improve the quality and length of life of SMA children."

###

Notes to Editors

1. Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy Melissa Bowerman, Lyndsay M Murray, Justin G Boyer, Carrie L Anderson and Rashmi Kothary BMC Medicine (in press)

Please name the journal in any story you write. If you are writing for the web, please link to the article. All articles are available free of charge, according to BioMed Central's open access policy.

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Fasudil bypasses genetic cause of spinal birth defect

ScienceDaily (Mar. 6, 2012) A new research discovery by a team of Stanford and European scientists offers hope that people with atherosclerotic disease may one day be able to avoid limb amputation related to ischemia. A new research report appearing online in the FASEB Journal suggests that the delivery of genes for two molecules naturally produced by the body, called "PDGF-BB" and "VEGF" may successfully cause the body to grow new blood vessels that can save ischemic limbs.

"We hope that our findings will ultimately develop into a safe and effective therapy for the many patients, suffering from blocked arteries in the limbs, who are currently not adequately treated by surgery or drugs," said Helen M. Blau, Ph.D., a senior researcher involved in the work and Associate Editor of the FASEB Journal from the Baxter Laboratory for Stem Cell Biology at the Institute for Regenerative Medicine and Stem Cell Biology at Stanford. "This could help avoid the devastating consequences of limb amputations for both patients and their families."

To make this discovery, Blau and colleagues, including Andrea Banfi (now at Basel University), introduced the genes for PDGF-BB and VEGF into the muscles of mice, either independently or together. When high doses of VEGF alone were produced, they caused the growth of vascular tumors. When the two factors were produced in unbalanced amounts, tumor growth also occurred. When VEGF and PDGF were delivered in a fixed ratio relative to one another, however, no tumors occurred, and blood flow was restored to ischemic muscle tissue and damage repaired without any toxic effects. To achieve a "balanced" delivery of PDGF-BB and VEGF, scientists placed both genes in a single gene therapy delivery mechanism, called a "vector."

Although the report shows the feasibility of growing robust and safe new blood vessels that restore blood flow to diseased tissues, Blau points out that "there are multiple challenges to correcting peripheral vasculature disease by using proangiogenic gene therapy strategies. Two important challenges are what to deliver and how to get it to where it can have beneficial effects. Clinical success will require both delivering a gene therapy construct that encodes for effective angiogenic factors and ensuring that the sites of delivery are where the construct can have the greatest clinical benefit."

"This ingenious work, based on the latest techniques of molecular biology, tells us that it is possible to reinvigorate parts of our body that can't get enough blood to keep them going," said Gerald Weissmann, M.D., Editor-in-Chief of the FASEB Journal. "The next question is whether this approach will work in humans and exactly how to deliver the new treatment to places that need it the most."

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The above story is reprinted from materials provided by Federation of American Societies for Experimental Biology, via EurekAlert!, a service of AAAS.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

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Gene therapy approach to grow blood vessels in ischemic limbs

Public release date: 6-Mar-2012 [ | E-mail | Share ]

Contact: Elisabeth (Lisa) Lyons elyons@cell.com 617-386-2121 Cell Press

In a perfect world, we could eat to our heart's content without sacrificing our health and good looks, and now it appears that maybe we can. Mice with an extra dose of a known anti-cancer gene lose weight even as their appetites grow. Not only that, but according to the report in the March issue of the Cell Press journal Cell Metabolism, the animals also live longer, and that isn't just because they aren't getting cancer, either.

One of the animals' youthful secrets is hyperactive brown fat, which burns energy instead of storing it. The findings add to evidence that tumor suppressors aren't designed only to protect us against cancer, the researchers say. They also point to new treatment strategies aimed to boost brown fat and fight aging.

"Tumor suppressors are actually genes that have been used by evolution to protect us from all kinds of abnormalities," said Manuel Serrano of the Spanish National Cancer Research Center.

In this case, the researchers studied a tumor suppressor commonly lost in human cancers. Mice with an extra copy of the gene known as Pten didn't get cancer, but that's not the half of it. Those mice were also leaner, even as they ate more than controls, Serrano said. That suggested that the animals were experiencing some sort of metabolic imbalanceand a beneficial one at that.

Cancer protection aside, the animals lived longer than usual. They were also less prone to insulin resistance and had less fat in their livers. Those benefits seem to trace back to the fact that those Pten mice were burning more calories thanks to overactive brown fat. Studies in isolated brown fat cells confirmed that a boost in Pten increases the activity of those cells. Pten also made it easier for brown fat to form.

"This tumor suppressor protects against metabolic damage associated with aging by turning on brown fat," Serrano says.

A small compound inhibitor that mimics the effects of Pten also came with those varied benefits. That's encouraging news for the prospect of finding a drug that might do for us what the extra Pten gene did for the mice.

After all, Serrano said, humans were built for a time when 30 would have been considered old age. "We're well protected against cancer and cardiovascular disease" early in life. As it has become commonplace to live to the age of 80, we could all use a little help.

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With extra gene, mice are footloose and cancer free

Public release date: 6-Mar-2012 [ | E-mail | Share ]

Contact: Juan J. Gmez juanj.gomez@cnio.es Centro Nacional de Investigaciones Oncologicas (CNIO)

This result, obtained after five years' research, is published in leading journal Cell Metabolism. The authors, led by Manuel Serrano (CNIO), believe it will open the door to new therapeutic options not only against cancer, but against obesity and even the ageing process.

The team has also demonstrated that a synthetic compound developed in-house produces the same anti-obesity benefits in animals as the study gene.

Their findings add new weight to a hypothesis that is gaining currency among researchers in the field; namely that cancer and ageing, and now obesity too, are all manifestations of the same global process that unfolds in the body as its tissues accumulate more damage than natural repair mechanisms are able to cope with.

Prominent among these natural repair mechanisms are a small set of genes noted primarily for their protective effect against cancer. In recent years, some of these genes have also been shown to promote longevity again by researchers from the CNIO and to play a significant role in other high-incidence conditions like diabetes and cardiovascular diseases.

The Serrano team set out to test whether the Pten gene, one of the four most potent anti-cancer genes, could be linked to other beneficial effects, particularly longevity.

And it turns out the answer is yes. The CNIO researchers created transgenic mice with double the standard levels of the Pten protein. The animals, as anticipated, proved far more resistant to cancer than their non-transgenic fellows. But they also lived an average of 12% longer.

This effect is independent of cancer resistance. It is not that the mice die of cancer later than otherwise, but that those that never develop cancer also live longer and exhibit fewer ageing-related symptoms. As the researchers put it, "Pten has a direct impact on length of life."

A "real surprise"

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CNIO scientists discover in studies with mice that an anti-cancer gene also fights obesity

London, March 6 (ANI): A gene involved in fat taste may explain why some people like fatty foods and others prefer low-fat diets, a new study suggests.

About five years ago, animal studies first revealed the presence of entirely novel types of oral fat sensors or receptors on the tongue.

Prior to this time, it was believed that fats were perceived only by flavour and texture cues. With this new information, "everything that we thought we knew about fat perception got turned on its head," said Beverly Tepper, a professor in the Department of Food Science at Rutgers School of Environmental and Biological Sciences.

Tepper has been studying consumer preferences for high-fat versus low-fat foods, and has been intrigued by the questions: "Why are some people more sensitive and others less sensitive to fat?" "Is this a personal trait?" "And do genes contribute to these differences?"

Those new discoveries suggest that fats are perceived on the tongue as a "taste" sensation by binding to specialized receptors on taste buds.

More specifically, Tepper explained, "fats are broken down in the mouth to fatty acids, and it's the fatty acids that bind to these receptors."

One oral fat receptor that has attracted a great deal of recent attention is CD36, a carrier protein that helps fatty acids traverse cell membranes in many tissues of the body.

But how is CD36 related to consumer fat preferences and the possible genetic differences that Tepper and colleagues are so keen on understanding?

The answer lies in a new study by Tepper, in conjunction with her former student Kathleen Keller, who received her Ph.D. in 2002 from Rutgers' graduate program in nutritional sciences.

Keller, now an assistant professor of nutritional sciences at The Pennsylvania State University and lead author on the article, studied an overweight population of African-American adults and found those who had a specific change or variation in the CD36 gene perceived the creaminess and fattiness of salad dressings quite well, but they were less able to differentiate the high-fat from the low-fat versions.

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Gene linked to preference of high-fat foods

05-03-2012 18:07 Dead Doctors Don't Lie Program 02 March 2012 Monologue Dr. Wallach starts the show discussing genetic diseases. Contending that most diseases that have been deemed "genetic" such as Lou Gehrigs disease, Alzheirmer's, Type 2 diabetes and arthritis. Asserting these are due to nutritional deficiencies either in the child or in the mother during conception. Pearls of Wisdom Doug Winfrey and Dr. Wallach discuss two news articles concerning anti-depressant drugs. A study conducted by a Harvard psychologist an Irving Kirsch who has researched the "placebo effects" for over 30 years. Using data he obtained through the Freedom of Information Act has concluded that anti-depressant drug clinical trials showed no proof of efficacy. Finding that several trials showed no efficacy and a small amount showed some efficacy. Only these trials were submitted to the FDA and were ultimately approved for the market. Irving Kirsch has concluded those showing some efficacy were due to the placebo effect. Calls * Bruce has questions regarding joint pain. * JP asks questions concerning hypertension, high cholesterol and ED (erectile dysfunction). * Ray has frequent urination and sinusitis. * Greg has two questions the first concerns his father who has neuropathies in his legs and gout. Second he has questions regarding a friend's mother who has kidney cancer. Call Dr. Wallach's live radio program weekdays from noon until 1pm pacific time at 831-685-1080 or toll free at 831-685-2552. to add comment ...

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3/5 Dead Doctors Don't Lie Program - Genetic Diseases - Video

05-03-2012 18:36 Dead Doctors Don't Lie Program 02 March 2012 Monologue Dr. Wallach starts the show discussing genetic diseases. Contending that most diseases that have been deemed "genetic" such as Lou Gehrigs disease, Alzheirmer's, Type 2 diabetes and arthritis. Asserting these are due to nutritional deficiencies either in the child or in the mother during conception. Pearls of Wisdom Doug Winfrey and Dr. Wallach discuss two news articles concerning anti-depressant drugs. A study conducted by a Harvard psychologist an Irving Kirsch who has researched the "placebo effects" for over 30 years. Using data he obtained through the Freedom of Information Act has concluded that anti-depressant drug clinical trials showed no proof of efficacy. Finding that several trials showed no efficacy and a small amount showed some efficacy. Only these trials were submitted to the FDA and were ultimately approved for the market. Irving Kirsch has concluded those showing some efficacy were due to the placebo effect. Calls * Bruce has questions regarding joint pain. * JP asks questions concerning hypertension, high cholesterol and ED (erectile dysfunction). * Ray has frequent urination and sinusitis. * Greg has two questions the first concerns his father who has neuropathies in his legs and gout. Second he has questions regarding a friend's mother who has kidney cancer. Call Dr. Wallach's live radio program weekdays from noon until 1pm pacific time at 831-685-1080 or toll free at 831-685-2552. to add comment ...

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4/5 Dead Doctors Don't Lie Program - Genetic Diseases - Video

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

Foundation Medicine, Inc., a molecular information company that brings comprehensive cancer genomic analysis to routine clinical care, today announced a collaboration with Array BioPharma (NASDAQ: ARRY - News). Foundation Medicine will use its genomic sequencing and analytic capabilities to assess potentially relevant molecular alterations to assist Array in targeting patients that are most likely to respond to treatment.

Foundation Medicine has established a remarkable portfolio of collaborations around the discovery and clinical development of targeted cancer therapeutics, said Michael J. Pellini, M.D., president and chief executive officer of Foundation Medicine. The molecular information generated by our platform is designed to help biopharma companies like Array expedite the development of targeted drug candidates that impact the genomic pathways driving a specific cancer.

Array has a portfolio of targeted cancer agents in early stages of clinical development. Through this collaboration with Foundation Medicine, Array intends to determine the genetic profile of tumors of patients who are treated with certain of its anticancer agents. The goal of this work is to understand how to identify patients who may respond to a given targeted therapy to ensure that each patient gets the optimal drug to treat their individual disease.

Foundation Medicines industry and academic partnerships complement the companys core cancer diagnostics capability, a comprehensive cancer genomic test that provides physicians with genomic information that may help match patients with treatments or clinical trials specific for the genomic profile of their tumor.

About Foundation Medicines Comprehensive Cancer Genomic Test

Foundation Medicines comprehensive cancer genomic test uses next-generation sequencing to analyze routine clinical specimens (i.e., small amounts of formalin fixed, paraffin embedded tumor tissue) for molecular alterations in approximately 200 cancer-related genes. The test is optimized for clinical-grade analysis of tumor tissues, overcoming multiple complexities (such as purity, ploidy, and clonality) inherent to tumor genomes. Test results are reported through a secure, interactive website linking genomic data to a structured knowledge base of relevant, publicly available scientific and medical information. The company also aims to provide information on relevant clinical trials to enable a more rapid recruitment of patients into trials for targeted therapies. Foundation Medicines test can serve as a helpful decision-support tool for physicians to recommend cancer treatment approaches tailored to each patients molecular subtype.

About Foundation Medicine

Foundation Medicine is dedicated to improving cancer care through the development of comprehensive cancer diagnostics that will help physicians inform treatment decisions based on an individual patients molecular cancer subtype. Foundation Medicines first laboratory developed test, based on a next-generation sequencing platform, is designed to accommodate a broad landscape of cancer genome information and a growing repertoire of targeted treatments and clinical research opportunities. Foundation Medicines test will assist physicians to make prompt and informed determinations about the best cancer treatments and clinical trial options for each patient, taking into account each patients unique cancer-associated alterations alongside publicly available scientific and medical information. The companys founding advisors are world leaders in genome technology, cancer biology and medical oncology; they, alongside clinicians, biotech and molecular diagnostics industry leaders, are working to harness emerging technologies to develop unparalleled tests that will identify and interpret an ever-growing set of actionable genomic alterations, truly enabling personalized cancer medicine. For more information, please visit the companys website at http://www.foundationmedicine.com.

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Foundation Medicine Announces Collaboration with Array BioPharma

Eight mutations occurred in the common bacteria Staphylococcus aureus as it turned from an innocuous resident inside one persons nose into a fatal blood infection, an Oxford University study has found.

The study, which sequenced the complete DNA of the bacteria at regular time intervals, was able to identify for the first time the genetic changes that accompanied the transition to a dangerous infection.

Understanding the biological causes of serious bacterial infections could help guide screening in hospitals, and could inform efforts to develop vaccines against such infections. The study is published in the journal PNAS and was carried out in partnership with Oxford University Hospitals NHS Trust through the National Institute of Health Research (NIHR) Oxford Biomedical Research Centre.

"We have observed a significant genetic change in the bacteria corresponding with the development of a fatal blood infection," said Dr Bernadette Young of the Nuffield Department of Clinical Medicine at Oxford University, one of the lead researchers.

"It is one case study we simply dont know how much these results will be mirrored in others. But it could be a step towards identifying genetic changes that may be important in driving infection generally."

S. aureus is common, with one in four people carrying it inside the nose without any symptoms. Occasionally S. aureus can cause serious invasive infections, such as blood poisoning. Blood poisoning can develop as a complication of a skin infection, or via medical equipment that goes inside the body such as a feeding tube or catheter. But sometimes it appears to occur spontaneously, and it is thought that this can happen when nasal bacteria change in some way to allow invasive disease.

The Oxford researchers set out to understand more about the carriage of S. aureus inside the nose. They enrolled over 1,100 adults at GP practices in Oxfordshire and carried out nasal swabs. 360 people were found to carry S. aureus, who were then monitored with regular nasal swabs.

However, one elderly participant became ill a number of months into the study. The participant developed a serious condition requiring treatment, but soon after became unwell with blood poisoning and later passed away.

Complete DNA sequencing of the bacteria from the patients blood showed just a handful of changes from the bacteria in nose swabs before the patient became ill. It was the same bug causing infection that had been carried in the nose. But the few DNA changes may have been significant.

Eight new mutations were detected in the bacterial DNA from the patients blood. Four of the mutations cut genes short and are likely to have impaired the functions of bacterial proteins. One of these was in a protein that regulates stress response and virulence in S. aureus and could conceivably be connected to a biological change leading to infection.

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Genetic changes tracked as bacteria become a fatal infection

Editor's Choice Main Category: Genetics Article Date: 06 Mar 2012 - 9:00 PST

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At the university's Genomics and Pathology Services (GPS), the researchers will sequence the patient's DNA at no cost to the advocacy groups or to patients.

Jimmy Lin, Ph.D., research instructor in pathology and immunology, explained:

Rare genetic diseases range from Neimann-Pick, a metabolic disorder which can occur in infancy, to Huntington's disease, a neurodegenrative disorder diagnosed in adulthood.

DNA sequencing is currently faster, cheaper and more accurate, as a result of advances in technology in recent years. For individuals suffering with rare diseases, researchers are now able to use DNA sequencing in order to identify the genetic flaw or flaws most likely responsible for their disease.

It is believed that several rare diseases are caused by genetic mutations in the small part of the DNA that codes for proteins, collectively known as the exome. The researchers will sequence this part of the DNA.

In early 2011, the genetic causes for 39 rare diseases were identified using exome sequencing, and according to scientists, this is just the start.

Karen Seibert, Ph.D., director of GPS and research professor of pathology and immunology, said:

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DNA Sequencing To Identify Genetic Flaws Responsible For Rare Diseases

TUESDAY, March 6 (HealthDay News) -- New research offers potential insight into the connection between cancer, obesity and longevity in humans by showing that genetically modified mice live longer, skinnier and almost cancer-free lives.

There are quite a few differences between mice and humans, especially in regard to the type of fat that's apparently affected by the genetic tweak, so there's no way to know if the research could lead to benefits in humans. Even if medications based on the research are developed, no one knows what the side effects in people might be or their eventual cost.

Still, a potential drug "could have two benefits: adding some extra protection against cancer and protecting us from overeating," said Manuel Serrano, senior group leader at the Spanish National Cancer Research Center in Madrid and co-author of a study appearing in the March issue of Cell Metabolism.

At issue is a gene called Pten that boosts the body's cancer-fighting powers. Mutations in the gene can contribute to the development of cancer.

The researchers genetically engineered mice to have extra copies of the gene. The mice didn't suffer from side effects, Serrano said, and they managed to live 15 percent longer than other mice and suffer from less cancer.

He acknowledged, however, that figuring out a mouse's cause of death can be a challenge.

Mice that ate a high-fat diet also managed to be leaner, suggesting that the genetic tweak affected their ability to gain weight even when they would normally be packing on the extra ounces.

Serrano said the key seems to be the tweak's effect on something known as brown fat.

Both mice and humans have brown fat, but it's better understood in mice, he noted. In mice, it appears to burn regular "white fat" and be activated when it's cold or when the mice eat too much, Serrano said.

"Brown fat is very abundant and active in mice, but in humans it is scarce," Serrano explained. "At present, it is not known whether pushing the brown fat in humans will have a significant effect in fat burning."

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Genetic Tweak Helps Mice Avoid Cancer, Obesity: Study

NEW YORK--(BUSINESS WIRE)--

Signal Genetics, a privately held cancer genetics testing company, today announced the launch of its new physician portal and analysis tool, ResultsPX. The Health Insurance Portability and Accountability Act (HIPAA) compliant web portal will enhance physicians ability to administer and analyze the results of Signal Genetics predictive genomic tests, including MyPRS PlusTM for multiple myeloma and PrevistageTM GCC for colon cancer staging and recurrence.

Signal Genetics physician customers can use ResultsPX to retrieve the results of tests performed by Signal Genetics at its CLIA certified laboratories, and to conduct their own, deeper analysis of their patients genomic profile to better inform treatment decisions. The portal will initially be available to physicians that order Signal Genetics genomic tests, as well as select hospitals in Europe.

Our ResultsPX web portal combines state-of-the-art genomic science and technology to produce interactive, exhaustive genomic data analysis to physicians globally. We believe putting more information in the hands of physicians will enable them to make the most informed decisions for their patients, said Joe Hernandez, President and CEO of Signal Genetics. This innovative and secure technology is a key complement to our assays, and makes our strong portfolio of predictive molecular diagnostic tests for various cancers even more accessible. The portal is completely scalable, and will also support each of our genomic tests in development upon launch, including our products in development for breast cancer and lung cancer.

ResultsPX will also enable remote interpretation of Signal Genetics test algorithms in a secure and controlled environment. In Europe, where testing is typically done in internal hospital laboratories, physicians will be able to run Signal Genetics assays on-site with ResultsPX, eliminating the need to ship patient samples to labs. The portals unique technology and strict quality control standards will allow hospitals to receive accurate test results within minutes.

For more information, please visit: http://www.SignalGenetics.com

About Signal Genetics

Signal Genetics, the parent company of Myeloma Health LLC, CC Health, Respira Health, and ChipDX, is a privately held predictive genetic testing company focused on helping cancer patients. MyPRS Plus stratifies risk for patients with multiple myeloma and provides additional insights in to the genetic characteristics of each individual patient. PrevistageTM GCC Colorectal Cancer Staging Test currently is the only colorectal cancer staging test on the market that provides prognostic information based on the tumor burden measured at the molecular level in the lymph nodes. The goal of Signal Genetics is to provide cancer patients and their physicians with novel and innovative insights into their disease, including predicting outcomes, accurately staging disease, providing odds of relapse, and identifying the optimal treatment regimen based on their specific genetic profile. Additional information is available at http://www.signalgenetics.com

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Signal Genetics Announces Launch of New Physician Web Portal and Genetic Test Results Analysis Tool

SILVER SPRING, Md.--(BUSINESS WIRE)--

Nuvilex, Inc. (OTCQB:NVLX), an emerging biotechnology provider of cell and gene therapy solutions, today pointed out the potential for substantial partnership and licensing opportunities using the companys cell encapsulation technology for applications in stem cell research and medicine. Migration of implanted cells away from the target site and host rejection have been recognized as fundamental challenges faced by the stem cell community regarding their use in therapy, which the companys technology overcomes.

The technology being acquired from associate SG Austria is used to place live stem cells into strong, flexible and permeable capsules. These capsules can then be implanted into animals or humans for specific therapies. Stem cells can then exist at the desired location inside the capsules, prevented from migrating and protected from the immune system that aims to eliminate such foreign cells from the body.

Stem cell therapy is being used by clinicians throughout the world for treating such diverse diseases as spinal cord injury, amyotrophic lateral sclerosis, burns, glioma, multiple myeloma, arthritis, heart disease, stroke, Stargardt's Macular Dystrophy, and age-related macular degeneration, among others, most of which can be found at ClinicalTrials.gov.

Historically, researchers have faced numerous difficulties in succeeding with certain stem cell treatments, because of the problems associated with keeping stem cells alive for significant periods of time, stopping rejection and destruction by the recipients immune system, and keeping stem cells from migrating away from the desired sites. Cells encapsulated in SG Austrias porous beads have been shown to remain alive for long periods of time in humans, surviving intact for at least two years. Once encapsulated, cells are protected from the bodys immune system. Furthermore, encapsulated cells remain within the beads and are unable to migrate to other sites in the body.

In the February 29, 2012 research report, Goldman Small Cap Research stated, The Cell-in-a-Box approach could significantly advance the implementation and utilization of stem cells for a host of debilitating diseases and conditions, making it a uniquely valuable commodity. We believe that by partnering with leading players in the field, Nuvilex could find that companies with deep pockets would be happy to collaborate or license the delivery system and engage in further research which could result in meaningful development and licensing revenue.

Dr. Robert Ryan, Chief Executive Officer of Nuvilex, discussed the value for licensing the companys stem cell therapy, adding, By overcoming traditional barriers to effective stem cell therapy, namely viability, migration, and host rejection, we believe these new advances in medical science utilizing stem cells and encapsulation will enable us to take quantum leaps forward now and in the future. As a result of challenges SG Austria has overcome, new advances will be surprisingly close at hand and are part of the driving force behind our desire to work with a number of companies in this endeavor. Our primary goal has been and remains to use our technology to bring life changing treatments to patients on an expedited basis.

About Nuvilex

Nuvilex, Inc. (OTCQB:NVLX) is an emerging international biotechnology provider of clinically useful therapeutic live encapsulated cells and services for encapsulating live cells for the research and medical communities. Through our effort, all aspects of our corporate activities alone, and especially in concert with SG Austria, are rapidly moving toward completion, including closing our agreement. One of our planned offerings will include cancer treatments using the companys industry-leading live-cell encapsulation technology.

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Nuvilex Forecasts Vast Partnership Opportunities Using Breakthrough Stem Cell Technology