Faith in Suburbia photography project
Faith in Suburbia: a shared photographic journey is a group photography project with senior citizens from six different Ealing-area faith communities. Throug...

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Intro to Viruses Part 1
Virus Structures, Shapes and Sizes.

By: Lara McDonald

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Intro to Viruses Part 1 - Video

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Sickle Cell Disease: What can Africa Contribute?
Sickle Cell Disease: What can Africa Contribute? Air date: Wednesday, February 13, 2013, 3:00:00 PM Description: Wednesday Afternoon Lecture Series There has...

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Orphan Drugs: Making Rare Disease Rarer
From the 15th Annual BIO CEO Investor Conference at the Waldorf Astoria Hotel in New York on February 12th, 2013 The signing of FDASIA by President Obama i...

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Dr. Shomarka Keita
Dr. Shomarka Keita UNC Seminar 2012.

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Genetically engineering a persons immune system cells to recognize an aggressive form of leukemia led to remissions in five patients, including one whose cancer was wiped out in just eight days, researchers said.

Acute lymphoblastic leukemia, which can kill in weeks when left untreated in adults, appears vulnerable to manipulation of the immune system, a study in the journal Science Translational Medicine found. Previous research found a similar approach could lead to remission in the slower-moving chronic lymphocytic leukemia, even in those who had failed other treatments.

Patients with relapsed acute leukemia have a dismal prognosis, with long-term survival only in a few who respond to chemotherapy and complete a stem cell transplant, researchers said. The findings, released yesterday, have implications for patients battling leukemia now and may offer powerful new ways to combat more common tumors like lung and breast cancer in the future, said Renier Brentjen, an oncologist at Memorial Sloan- Kettering Cancer Center in New York.

This gives us something to offer patients when previously there was nothing, he said in a telephone interview. Their illness was for all intents and purposes terminal. You have a disease that has a very bad prognosis, but we have a new therapeutic entity that may enhance long-term survival.

The researchers took T-cells from the patients own immune systems, which are supposed to recognize and fight infection, and programmed them to detect an antigen found only on healthy and cancerous B cells. Brentjen described the approach as forcefully re-educating the immune system to recognize and destroy cancer cells.

The findings should encourage researchers to expand the approach to other malignancies, though it may take some time to find suitable targets for the immune system, he said.

Two patients with the most cancer experienced a so-called cytokine storm, with high fevers and plummeting blood pressure that led to monitoring in the intensive care unit. The others had relatively few symptoms, and were sent home two days after the new immune system cells were infused, Brentjen said. The findings suggest the approach may work best early in the disease, when there is little tumor present, he said.

This is a new drug, he said. Its a living drug, but its a new drug. As with any new drug, you have to first show that it works. Then you have to find out how it works best.

One of the patients in the study relapsed and subsequently died, while the others went on to receive bone marrow transplants and showed no signs of cancer. A second patient died from a suspected blood clot in the lungs while in remission.

Future studies will determine whether it should be given to patients before other therapies and whether patients, like those in the trial, will need bone marrow transplants to rebuild their immune systems or if they can skip the toxic treatment. More work is also needed to see if the destruction of healthy B cells caused by the treatment leads to a weakened immune system and future infections. Those long-term side effects could be addressed with existing treatments, Brentjen said.

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Deadly Leukemia Tamed by Novel Immune System Gene Therapy

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By Anne W. Semmes

Greenwich resident Barbara Netter is no stranger to the extraordinary breakthroughs that gene therapy research has led to in cancer treatment. Her nonprofit foundation, the Alliance for Cancer Gene Therapy (ACGT), has funded some of the cutting-edge research that has allowed the word "cure" to become a part of the cancer conversation.

But when she's able to stand next to Emily Whitehead, a child of seven, free of cancer for nearly a year after being treated with gene therapy that came after ACGT-funded research -- the reality of what those breakthroughs can mean can be quite moving.

"It's really very exciting," says Netter. "At the time of her treatment it was such a breakthrough. She had lymphoblastic leukemia at age 5. When she was 6 she was on a ventilator. They gave her a day to live."

Netter met both Emily and her parents at a celebratory meeting held last Tuesday at the University of Pennsylvania's Perelman School of Medicine, where Dr. Carl June developed ground-breaking treatment of Emily's leukemia that involved genetically engineering her T cells to attack her cancer with a disabled AIDS virus acting as a delivery system. June treated Emily last April when she was near death. After surviving a severe reaction to the treatment, Emily emerged cancer- free.

Now, she is happy -- and healthy.

"We did provide the initial seed money to fund Dr. June's T cell research," said Netter. It was ACGT's initial support of June in 2004 and again in 2008 -- nearly $2 million worth of funding -- that helped his clinical trials get off the ground and lead to his breakthrough treatment.

Emily recently has been joined by another 7-year-old, Maddie Major, who also has been declared cancer-free after receiving June's gene therapy treatment. She is one of four other children with advanced leukemia reported to be in similar treatment.

June has had other successes, as well, with his gene therapy treatment. Eight of 10 adults with chronic leukemia he has treated are in full remission, and that treatment is now being adapted to target solid tumors: prostate, pancreatic, ovarian and breast cancers.

Also present at the UPenn meeting was Dr. Robert Vonderheide, a senior researcher at the university. Vonderheide received funding from Netter's nonprofit in 2003 when he was chosen as an ACGT Young Investigator. The Young Investigator Award funds assistant professors who are conducting independent and innovative cell and gene therapy for cancer research in their own labs. Vonderheide shared with those at Tuesday's meeting of a clinical trial for pancreatic cancer that he hopes will soon take place.

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Funding gene therapy research: Local nonprofit supports efforts to find a cure for cancers

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

bluebird bio, a privately-held biotechnology company focused on gene therapy, today announced the formation of a broad, global strategic collaboration with Celgene Corporation to discover, develop and commercialize novel disease-altering gene therapies in oncology. The collaboration will focus on applying gene therapy technology to genetically modify a patients own T-cells, known as chimeric antigen receptor (CAR) T-cells, to target and destroy cancer cells. The multi-year research and development collaboration has the potential to lead to the development and commercialization of multiple CAR T-cell products. Celgene has an option to license any products resulting from the collaboration after the completion of a Phase 1 clinical study for each such product. bluebird bio will be responsible for research and development activity through Phase 1 studies.

Additionally, Celgene has also entered into a separate strategic collaboration in the CAR T-cell field with the Center for Cell and Gene Therapy at Baylor College of Medicine, Texas Childrens Hospital and The Methodist Hospital, Houston, led by Malcolm Brenner, M.D., Ph.D., professor, Department of Molecular and Human Genetics and the director, Center for Cell and Gene Therapy. bluebird bio, Celgene and Dr. Brenners team will work collaboratively to advance and develop existing and new products and programs in the CAR T-cell field.

The genetic manipulation of autologous T-cells is a new frontier in oncology, one that shows early promise in emerging clinical trials, said Tom Daniel, president, research & early development at Celgene. We see strong prospects for this collaboration between Celgene, bluebird bio and Baylor College of Medicines experienced leaders in this emerging field, led by Dr. Brenner, to advance this innovative approach to intractable problems in oncology.

We believe that our recent advances in the industrialization of our gene therapy platform will drive improvements in the potency, purity, efficiency and scalability of our lentiviral gene therapy programs. These advances provide us with an opportunity to apply our platform, intellectual property and know-how to the development of additional product candidates in indications such as CAR T-cells for cancer, stated Nick Leschly, CEO of bluebird bio. Celgene is a global leader in oncology and, combined with Baylors expertise in the CAR T-cell field, we have created a great opportunity to drive innovation in a new and exciting area.

Financial terms of the agreement include an upfront payment and up to $225 million per product in potential option fees and clinical and regulatory milestones. bluebird bio also has the right to participate in the development and commercialization of any licensed products resulting from the collaboration through a 50/50 co-development and profit share in the United States in exchange for a reduction of milestones. Royalties would also be paid in regions where there is no profit share including in the United States if bluebird bio declines to exercise their co-development and profit sharing rights.

The gene therapy products currently in clinical development at bluebird bio for the treatment of childhood cerebral adrenoleukodystrophy, beta-thalassemia and sickle cell disease are independent of this collaboration.

Cowen and Company contributed as a strategic advisor to bluebird bio on this transaction.

About CAR T-Cell Therapy

CAR T-cell therapy represents a promising, emerging approach to treating cancer. Blood is withdrawn from a patient and the T-cells are then extracted from a patient's blood. These cells are then genetically modified to recognize and attack cancer cells and then re-introduced into the patient's blood. The patients genetically modified cells are intended to bind to and kill the target cancer cells.

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bluebird bio Announces Global Strategic Collaboration with Celgene to Advance Gene Therapy in Oncology

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Public release date: 21-Mar-2013 [ | E-mail | Share ]

Contact: Sarah Barth s.barth@elsevier.com 215-239-6087 Elsevier

Philadelphia, PA, March 21, 2013 The April issue of Translational Research examines the progress and outlook of gene therapy research, with a specific focus on the clinical applicability of gene therapy today. Research articles included in the special issue highlight current studies that, after decades of trial and error, may provide evidence for a clear path of treatment and cure for many diseases. There are more than 1,800 genetic disorders known in humans, and only a small fraction of these can be treated and even fewer cured. Some of these disorders are exceedingly rare, others more common. The approach of gene therapy however may be applicable to all.

"The thirteen articles included in this special issue of Translational Research provide critical examples of the tools and practice of gene therapy today. They all focus on clinically meaningful studies that combine patient observations with smart experiments. The authors hope these articles will facilitate conversion of individual and disease-specific insight into a collective understanding of emerging gene transfer platforms and their subsequent translation to the bedside," explained contributing author Dr. Jakub Tolar of the Stem Cell Institute and Pediatric Blood and Marrow Transplant Program at the University of Minnesota, in his introduction to the issue. "The concept of gene therapy for genetic disorders is one of the most appealing in biomedicine because it is aimed at the cause rather than the symptoms of the disease."

Each article of this issue focuses on either a specific condition or a delivery method. Article topics included are: arthritis gene therapy, immunotherapies for type 1 diabetes mellitus, immune responses in liver-directed, lentiviral gene therapy, gene therapy for retinal disease, gene therapy in cystic fibrosis, evaluating risks of insertional mutagenesis by DNA transposons in gene therapy, pluripotent stem cells and gene therapy, gene therapy for hemoglobinopathies: progress and challenge, hemophilia clinical gene therapy-brief review, gene transfer for congestive heart failure, gene therapy for the prevention of vein graft disease, gene therapy for brain tumors, oncolytic virus therapy for cancer, and T cell-based gene therapy of cancer.

With the publication of this special issue, Translational Research identifies a need for clinical trial coordination among researchers worldwide, a focused goal of a world-scale change in medical practice, and real-time data exchange and evaluation, With these elements in place the true potential of gene therapy to treat and cure disease becomes apparent.

###

Notes for Editors

The articles appear in Translational Research, Volume 160, Issue 5 (April 2013), titled "Gene Therapy for Human Disease: Clinical Advances and Challenges," published by Elsevier, now available on ScienceDirect.

Full text of the articles included in the special issue is available to credentialed journalists upon request. Contact Sarah Barth at +1 215 239 6087, s.barth@elsevier.com to obtain copies or to schedule an interview with Dr. Jeffrey Laurence, MD, Editor-in-Chief.

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' Gene Therapy for Human Disease: Clinical Advances and Challenges'

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Stem cell therapy has been found useful in over 60 per cent of the patients due for liver transplant, as per a paper submitted by doctors at Sir Ganga Ram Hospital in Delhi recently. Not only is the treatment less cumbersome and risky, its cost is also comparatively very reasonable.

According to the papers principal author and chairman of the Department of Gastroenterology and Liver Diseases at the Hospital, Dr. Anil Arora, a large number of patients requiring liver transplantation cannot afford it for two reasons cost and donor availability.

A living donor is needed in such plantation cases with a matching blood group and he or she also has to be a family member or a first or second degree relative. They have to donate the liver. Since Rs.20 lakh is the average cost of liver transplantation, a majority of liver cirrhosis patients can not afford it. Many times they also do not have a donor, he said.

In view of the logistical problems faced by such patients, Dr. Arora said: We started looking at the feasibility of alternative methods like using reserve cells in the body called stem cells for such treatment as it costs even less than Rs.50,000. Some of these cells can be mobilised from the bone marrow as it has the capacity to regenerate the cells. So we stimulate the bone marrow by an injection.

This injection is given for five days and it mobilises the bone marrow and some of the cells. They then come into the blood circulation. In the study we tried to filter these cells from the blood marrow using a specialised filtering machine and the concentrate of these cells. About 5 ml to 10 ml of the blood containing these concentrated group of cells was then injected into the hepatic artery, which supplies blood to the liver, explained Dr. Arora. He said this process was carried out by a number of different mechanisms and it proved quite successful. We started about two years ago and finished last year. Then these patients were followed up for another one year and we were happy to see a significant proportion of the patients having substantial improvement in the liver functions as assessed by a score called Child score.

Dr. Arora said, All patients tolerated the treatment well without any side effects. Of the 10 patients, six to seven benefited. So we believe that more frequent administration of the stem cells in large number might have a more beneficial impact.

While the study by the Sir Ganga Ram Hospital team was published this year and was approved by the Department of Biotechnology and Ministry of Science and Technology, Government of India, Dr. Arora said there is also other published data now which calls for stimulating the bone marrow and letting the cells automatically go into the liver. By this, he said, you avoid filtering and putting the blood with the stem cells into the liver. This is also equally beneficial.

Dr. Arora said stem cell therapy might act as a bridge for liver transplant and can provide some time to the patients to arrange for treatment. But just like a damaged car tyre, he said, a damaged liver after minor repairs has to be replaced. However, if a person stops taking liquor or if the therapy goes on well, then a patient can lead a healthy life for many more years.

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NEW YORK, March 18, 2013 (GLOBE NEWSWIRE) -- NeoStem, Inc. (NYSE MKT:NBS) ("NeoStem" or the "Company"), a leader in the emerging cellular therapy market, today announced that the Company's contract development and manufacturing ("CDMO") subsidiary, Progenitor Cell Therapy ("PCT"), has launched a new service offering, using a custom developed Internet/Web application to further its position as a technology leader for cell therapy. The new service, an automated software system called "PCTFORME.COM", resides in a highly secure, cloud based computing environment, available 24/7, and serves to enhance PCT's service offering to its growing client base. This service has been launched for a major client and is now available for all of PCT's existing and future stem cell clients.

PCTFORME allows PCT's clients to securely access patient details on-line and provides for real time product ordering, processing and retrieval via automated communications between PCT's clients and laboratory staff. The system is expected to significantly enhance communication by enabling easy tracking of current processing, increasing PCT's efficiencies and streamlining the process for the ordering of patient cells for infusion. PCTFORME is HIPAA compliant and built on a proven Microsoft software platform and supporting cloud based hardware infrastructure.

Robert A. Preti, PhD, President and Chief Scientific Officer of PCT, said, "The need to service the demand, in both volume and variety of procedures, continues to grow as PCT serves our client base. The efficiencies gained in order entry, cell product inventory management, and real time procedure result reporting is expected to improve patient care through enhanced communication, control and transparency. In this regard, PCTFORME represents a patient product management breakthrough in stem cell processing."

"As the field of cell therapy continues to emerge, we believe technology will enable us to reduce costs, better service our clients and build scalable operations to be ready for the future when cell therapy becomes standard of care in medical practice," said Dr. Robin L. Smith, Chairman and CEO of NeoStem. "Our management is focused on evaluating, developing and incorporating such technologies into our state-of-the-art contract development and manufacturing business to assist our clients, as well as our clinical development subsidiaries, with their cell therapy product development, and in preparation to launch them into the clinic."

About NeoStem, Inc.

NeoStem, Inc. ("NeoStem" or the "Company") is a leader in the emerging cellular therapy industry. Our business model includes the development of novel proprietary cell therapy products as well as operating a contract development and manufacturing organization ("CDMO") providing services to others in the regenerative medicine industry. The combination of a therapeutic development business and revenue-generating service provider business provides the Company with capabilities for cost effective in-house product development and immediate revenue and cash flow generation. http://www.neostem.com

About Progenitor Cell Therapy, LLC ("PCT")

PCT, a wholly owned subsidiary of NeoStem, Inc., is a leading CDMO in the cellular therapy industry. Since its inception in 1997, PCT has provided pre-clinical and clinical current Good Manufacturing Practice ("cGMP") development and manufacturing services to over 100 clients advancing regenerative medicine product candidates through rigorous quality standards all the way through to human testing. PCT has two cGMP, state-of-the art cell therapy research, development, and manufacturing facilities in New Jersey and California, serving the cell therapy community with integrated and regulatory compliant distribution capabilities. Its core competencies in the cellular therapy industry include manufacturing of cell therapy-based products, product and process development, cell and tissue processing, regulatory support, storage, distribution and delivery and consulting services. http://www.pctcelltherapy.com

Forward-Looking Statements for NeoStem, Inc.

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Forward-looking statements reflect management's current expectations, as of the date of this press release, and involve certain risks and uncertainties. Forward-looking statements include statements herein with respect to the successful execution of the Company's business strategy, including with respect to the Company's or its partners' successful development of AMR-001 and other cell therapeutics, the size of the market for such products, its competitive position in such markets, the Company's ability to successfully penetrate such markets and the market for its contract development and manufacturing business, and the efficacy of protection from its patent portfolio, as well as the future of the cell therapeutics industry in general, including the rate at which such industry may grow. The Company's actual results could differ materially from those anticipated in these forward- looking statements as a result of various factors, including but not limited to matters described under the "Risk Factors" in the Company's Annual Report on Form 10-K filed with the Securities and Exchange Commission on March 11, 2013 and in the Company's other periodic filings with the Securities and Exchange Commission, all of which are available on its website. The Company does not undertake to update its forward-looking statements. The Company's further development is highly dependent on future medical and research developments and market acceptance, which is outside its control.

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NeoStem's Subsidiary, Progenitor Cell Therapy , Launches Web-Based Service for Real-Time Cell Therapy Product Tracking

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The 13 genes, eight of which are involved in the processing of fat in the body, could also be targeted by drugs leading to new treatments for non oestrogen-sensitive breast cancer, they reported in the Cancer Prevention Research journal.

Prof Seema Khan of Northwestern University in Chicago, who led the study, explained: "We now have the possibility of predicting if a preventive drug will work for a woman at high risk of breast cancer, so that we don't expose women to the risks and side effects of this drug if it won't help them.

"Identifying these genes also gives us a target for new therapies. Once we understand what regulates these genes, we can try to develop a therapy to switch them off."

About seven in ten breast cancers are "hormone receptor positive", meaning they are sensitive to oestrogen, but a significant proportion, particularly in younger women and women of African origin, are "HR negative".

Researchers studied a group of women who had developed cancer in one breast, meaning any tumour to grow in their other breast in future would likely be of the same type.

In samples of tissue from the healthy breast, the team identified 13 genes which were more or less active depending on whether the women's tumours were HR positive or negative.

Eight of the genes were involved in the metabolism of fat and several had previously been identified at high levels in breast tumour cells, backing up the findings.

Dr Emma Smith of Cancer Research UK said further study was needed but the results could lead to doctors "lowering the threshold" for deciding which patients are given tamoxifen, because they will be more sure who will benefit from it.

"If you stop breast cancer developing, you reduce the number of women who will need chemotherapy, surgery, mastectomies, and so on," she said.

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Breast cancer gene test could allow preventive treatment

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The market for bioinformatics services and software may soon surpass that for sequencing technologies, such as the one depicted here, in which laser light is used to help sequence DNA in glass slides.

David Paul Morris/Bloomberg via Getty Images

For Chaim Jalas at the Center for Rare Jewish Genetic Disorders in New York, DNA sequencing is the easy part. It costs less than US$1,500 per person to have the important parts of his clients genomes sequenced. But it would be dauntingly expensive to maintain servers and staff to analyse the data and identify mutations that might be causing the undiagnosed diseases that afflict his clients families.

So Jalas, the centres director of genetics resources and services, has outsourced parts of the analysis. He uploads his clients sequencing data to cloud-computing software platforms, where he can run analyses without having to set up the infrastructure in-house. The cost is about $100 per person. And the cloud-based interfaces let him collaborate with doctors in Israel without worrying about repeatedly transferring data on slow Internet connections. For me, it is convenient and cost-efficient, he says.

Jalas and the way he works represent a new and mostly untapped market for a new crop of genetics interpretation and analysis firms, which will be touting for customers at a meeting of the American College of Medical Genetics and Genomics in Phoenix, Arizona, on 1923March. Dozens of these firms have emerged, some in the past year, as ever more affordable sequencing moves from academia into the clinic (see Nature 494, 290291; 2013). Doctors will increasingly want to use sequencing data to guide decisions about patient care, but might not necessarily want to invest in staff and software to make sense of those data.

Its a huge unmet need, says David Ferreiro, a biotechnology analyst with investment bank Oppenheimer & Company in New York, which invests in many sequencing-technology and -analysis companies.

Where there is a need, there is also money to be made. The companies, many of them based in Californias Silicon Valley, have been tempted by a market in outsourced sequencing and analysis software that by 2016 could top $4billion per year, according to BCC Research, a market-research company in Wellesley, Massachusetts (see Genes in the marketplace). The skys the limit, says Andreas Sundquist, chief executive of DNAnexus in Mountain View, California, which provides genetic-analysis software on its cloud-based platform and allows users to upload and run their own algorithms.

Source: BCC Research

Other firms offer a range of approaches. Seven Bridges Genomics, based in Cambridge, Massachusetts, aims to be accessible to people with no expertise in bioinformatics, and provides access to free tools for designing custom-made analysis pipelines. Ingenuity Systems in Redwood City, California, allows users to upload a list of mutations in a persons genome, and finds those most likely to cause disease. Personalis, down the road in Menlo Park, offers sequencing services and interpretation for clinicians and pharmaceutical and biotechnology companies. Last week, the company won a $1.53-million contract with the US Department of Veterans Affairs to look for genetic variants in samples from as many as onemillion military veterans, to explore the variants roles in disease. (The company will outsource the sequencing to Illumina, a market leader in sequencing technology based in San Diego, California.)

The activity is reminiscent of that a decade ago, when bioinformaticians started up a flurry of companies, most of which were unsuccessful because the path from a genetic-disease marker to a profitable drug has not been straightforward. Todays companies have moved on to other challenges, says Steven Brenner, a computational genomicist at the University of California, Berkeley. He says that they will have to prove that their products are better than freely available software and do so without disclosing their intellectual property. These companies have a tricky situation, he says.

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Gene -analysis firms reach for the cloud

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Public release date: 19-Mar-2013 [ | E-mail | Share ]

Contact: Jeremy Moore jeremy.moore@aacr.org 215-446-7109 American Association for Cancer Research

PHILADELPHIA The overexpression or underexpression of a newly identified set of genes related to lipid metabolism may help physicians identify whether or not a woman is at risk for hormone receptor-positive or hormone receptor-negative breast cancer and to subsequently tailor prevention strategies appropriately, according to data published in Cancer Prevention Research, a journal of the American Association for Cancer Research.

"Currently, three drugs can be used to prevent breast cancer in women who are at extremely high risk for the disease," said Seema A. Khan, M.D., co-leader of the Breast Cancer Program at the Robert H. Lurie Comprehensive Cancer Center of Northwestern University in Chicago. "However, these drugs prevent only breast cancers that are sensitive to hormones, commonly referred to as estrogen receptor-positive breast cancers; they do not prevent breast cancers that are insensitive to hormones, or estrogen receptor-negative breast cancers.

"We should not expose women at risk for hormone-insensitive breast cancer to the side effects of preventive medications that we know will not work for them," Khan said. "Moreover, if we knew who these women were, we could focus on them in terms of designing new studies to find a solution for preventing hormone-insensitive cancer."

Khan and colleagues sought to find a way to identify women at risk for estrogen receptor-negative breast cancer by examining gene expression in the unaffected breasts of women who had a primary breast cancer of known estrogen-receptor status.

They used this approach because prior research has indicated that if women who have had cancer in one breast subsequently develop a cancer in their second breast, the second cancer is likely to have hormone-receptor status that resembles the first cancer.

Using this logic, Khan and colleagues performed fine-needle aspiration on the unaffected breasts of 15 women with estrogen receptor-positive breast cancer and 15 women with estrogen receptor-negative breast cancer. They validated their results in a second group of women: 12 with estrogen receptor-positive disease, 12 with estrogen receptor-negative disease and 12 healthy controls. The cases in each set were matched by age, race and menopausal status.

The researchers identified 13 genes with significantly higher expression levels in samples from estrogen receptor-negative women. Eight of these genes were associated with lipid metabolism.

"This was interesting because obesity is a breast cancer risk factor for postmenopausal women, but obese women are generally thought to be at increased risk for hormone-sensitive cancer," Khan said. "We were surprised to see that some of these genes that are associated with lipid metabolism, or the metabolism of fats, are actually more highly expressed in the unaffected breasts of women with estrogen receptor-negative breast cancer."

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Gene profile may help identify risk for hormone-sensitive, hormone-insensitive breast cancer

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

Dicerna Pharmaceuticals, Inc. (Dicerna), a second generation RNA interference (RNAi) company developing novel therapeutics utilizing its proprietary Dicer Substrate Technology and Dicer Substrate siRNA (DsiRNA) molecules, today announced that the United States Patent and Trademark Office (USPTO) has issued patent claims specific to double-stranded RNAs directed against the important oncology gene target KRAS. U.S. patent 8,372,816, titled Methods and compositions for the specific inhibition of KRAS by asymmetric double-stranded RNA was recently issued to Dicerna. This issuance continues the expansion of Dicernas patent portfolio around RNAi-related technology, including the DsiRNA class defining claims of U.S. patent 8,084,599, titled Methods and compositions for the specific inhibition of gene expression by double-stranded RNA.

We are extremely pleased the USPTO has granted these most recent patent claims specific to the KRAS gene, further adding to our strong patent estate and allowing for broad therapeutic use claims in the RNAi field, said Douglas Fambrough, chief executive officer of Dicerna. The KRAS gene has been recognized as a target of great therapeutic potential for decades, and yet has remained undruggable. The successful application of Dicer Substrate Technology against KRAS is a key advancement that could lead to important new therapeutics for cancer treatment.

On February 26, 2013, scientists from Kyowa Hakko Kirin Co., Ltd. (KHK) presented a talk entitled Development of Lipid Nanoparticle (LNP) Based Delivery System of siRNA Targeting Extrahepatic Tumor, at Asia TIDES: Oligonucleotide and Peptide Research, Technology and Product Development. The presentation highlighted in vivo tumor efficacy data obtained with DsiRNA targeting the KRAS gene, one of the programs from the research and development collaboration between Dicerna and KHK. The partners had previously announced in December 2011 that KHK had elected to advance this first collaborative therapeutic oncology candidate from the research stage into formal development studies, triggering a $5 million milestone payment for Dicerna.

About Dicer Substrate RNAi

Dicer is a critical enzyme involved in the RNAi gene silencing cascade and acts as the natural initiation point for this pathway by processing double-stranded RNA so that it can be used for gene silencing. Dicer then delivers these modified small RNA molecules to the mature gene silencing complex. Dicernas synthetic Dicer Substrate siRNA (DsiRNA) molecules are 25 or more base pairs in length and are processed by Dicer. By utilizing this distinct early entry point into the pathway, DsiRNA molecules have greater potency and longer duration of action than other RNAi approaches. In addition, DsiRNA molecules have enhanced delivery potential because their structure creates a natural conjugation point for cellular targeting agents.

About Dicerna Pharmaceuticals

Dicerna Pharmaceuticals is a private, venture-backed RNAi-focused biopharmaceutical company developing novel therapeutic agents and related drug delivery systems in oncology and other disease areas based on its proprietary Dicer Substrate Technology platform and Dicer Substrate siRNA (DsiRNA) molecules. Dicer Substrate Technology is a second generation RNAi approach that results in greater potency, longer duration of action and enhanced delivery potential, differentiating it from other RNAi approaches. Dicerna has a major alliance with Kyowa Hakko Kirin for DsiRNA pharmaceuticals and drug delivery systems focused in oncology, immunology and inflammation. The company also has a partnership with Ipsen to research and develop novel DsiRNA therapeutics with targeted delivery in oncology and endocrinology. Dicerna is based in Watertown, Massachusetts. For more information, please visit http://www.dicerna.com.

About Kyowa Hakko Kirin

Kyowa Hakko Kirin is a leading biopharmaceutical company in Japan focusing on its core business area of oncology, nephrology and immunology/allergy. Kyowa Hakko Kirin leverages antibody-related leading-edge technologies to discover and develop innovative new drugs aiming to become a global specialty pharmaceutical company which contributes to the health and well-being of people around the world. For more information, visit http://www.kyowa-kirin.com.

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Dicerna Announces Patent Issuance for DsiRNAs Directed at the KRAS Gene , a Key Cancer Regulator

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Newswise DURHAM, NC Newly identified mutations in a gene that makes cells immortal appear to play a pivotal role in three of the most common types of brain tumors, as well as cancers of the liver, tongue and urinary tract, according to research led by Duke Cancer Institute.

The finding, published Monday, March 18, 2013, in the journal Proceedings of the National Academy of Sciences, provides a long-sought answer to how some malignant cells are able to proliferate, while normal cells peter out and die.

This key to immortality involves telomeres, the end tabs that protect chromosomes from sticking together or fraying. As normal cells divide, the telomeres gradually grow shorter until they become so short the cell stops dividing and it expires. An enzyme called telomerase serves as a sort of growth factor, temporarily maintaining the length of the telomeres and enabling the cell to continue proliferating.

Scientists have recently learned that mutations of the so-called TERT promoter gene, which controls the instructions for making the telomerase enzyme, is involved in some cancer tumors. It appears that a mutation of the TERT promoter gene essentially creates a constant growth spurt so that the telomeres never shorten, and the cells can divide forever. Earlier this year, the process was described as a leading contributor to melanomas and a small number of other tumors.

The current research expands those findings by analyzing more than 1,200 tumors across 60 different types of cancer. Led by Hai Yan, M.D., PhD, a professor of pathology and investigator with Dukes Preston Robert Tisch Brain Tumor Center, the research team includes collaborators at Johns Hopkins and multiple other institutions.

The researchers found almost no TERT promoter mutations in many major cancer types, including breast and prostate malignancies, suggesting that some yet-unknown factor is causing the telomeres to elongate and promote cell immortality in those diseases.

But the Duke-led research team also identified nine tumor types highly associated with TERT promoter mutations. These cancers generally share a common feature: they arise in tissues with relatively low rates of cell renewal, suggesting they require the mutation to trigger the abnormal telomerase production.

These cancer types include melanomas, liposarcomas, hepatocellular carcinomas, transitional cell carcinomas of the urinary tract, squamous cell carcinomas of the tongue, medulloblastomas, and subtypes of gliomas, including 83 percent of primary glioblastomas, the most common brain tumor in adults with a median survival of only 15 months.

The results in brain tumors were quite striking, said Patrick J. Killela, co-lead author of the study and a Duke graduate student. For primary glioblastoma, this is the most frequent genetic mutation yet identified in this tumor.

Four years ago, Yans laboratory at Duke identified critical gene mutations associated with glioblastoma. But those mutations in the IDH1 and IDH2 genes -- were found only in rare glioblastomas that arose from other, lower-grade tumors known as astrocytomas and oligodendrogliomas. The main cancer-causing mutation for the other primary glioblastomas remained elusive.

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Immortality Gene Mutation Identifies Brain Tumors and Other Cancers

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March 19, 2013

April Flowers for redOrbit.com Your Universe Online

Certain diseases are caused by single gene mutations, and with current techniques for identifying the disease-causing gene producing hundreds of potential gene candidates, it is difficult for scientists to pinpoint the single causative gene. New research led by Rockefeller University scientists has led to the creation of a map of gene shortcuts to simplify the hunt for disease-causing genes.

Yuval Itan, a postdoctoral fellow in the St. Giles Laboratory of Human Genetics of Infectious Diseases, spearheaded the investigation that has led to the creation of what he calls the human gene connectome. The connectome is the full set of distances, routes (the genes on the way), and degrees of separation between any two human genes. Itan, a computational biologist, says the program he designed to generate the connectome uses the same principles GPS navigation uses to plan a trip between two locations.

The research team reported their findings in the online early edition of Proceedings of the National Academy of Sciences (PNAS).

High throughput genome sequencing technologies generate a plethora of data, which can take months to search through, says Itan. We believe the human gene connectome will provide a shortcut in the search for disease-causing mutations in monogenic diseases.

The team designed applications for use of the human gene connectome, beginning with a gene called TLR3, which is important for resistance to herpes simplex encephalitis a life threatening infection from the herpes virus that can cause significant brain damage in genetically susceptible children. Previous research from the St. Giles laboratory, led by Jean-Laurent Casanova, revealed children with HSE have mutations in TLR3 or in genes that are closely functionally related to TLR3. To follow the GPS metaphor, these genes are biologically a short distance from TLR3, leading scientists to believe novel herpes simplex encephalitis-causing genes are also expected to have a short biological distance from TLR3.

The team included researchers from the Necker Hospital for Sick Children, the Pasteur Institute in Paris, and Ben-Gurion University in Israel. They tested the capability of the human gene connectome to predict a disease-causing gene by sequencing exomes, (which are all DNA of the genome that is coding for proteins), of two patients recently shown to carry mutations of a separate gene, TBK1.

Each patients exome contained hundreds of genes with potentially morbid mutations, says Itan. The challenge was to detect the single disease-causing gene.

The researchers sorted the genes by their predicted biological proximity to TLR3, finding TBK1 at the top of the list in both patients. They successfully predicted two other genes, EFGR and SRC, as part of the TLR3 pathway before they were experimentally validated, using the TLR3 connectome. They applied other gene connectomes the set of all human genes sorted by their distance to a particular gene to detect Ehlers-Danlos syndrome and sensorineural hearing loss disease causing genes.

Continued here:
Shortcut Map Could Simplify The Hunt For Disease-Causing Genes

Recommendation and review posted by Bethany Smith

Body Of Osama Bin Laden Found! SATIRE
Yes it is true! This is huge! This is SATIRE or a JOKE for people that don #39;t know what satire is.

By: TheAlexJonesChannel

Visit link:
Body Of Osama Bin Laden Found! SATIRE - Video

Recommendation and review posted by Bethany Smith

Public release date: 18-Mar-2013 [ | E-mail | Share ]

Contact: Bill Schappert bschappert@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, March 18, 2013The more than 100 million Americans living with chronic pain and daily suffering often have limited outlets to talk about their conditions with others who can understand and offer comfort. Online chatrooms may provide a beneficial forum where chronic pain sufferers can openly and safely communicate, as discussed in an article in Cyberpsychology, Behavior, and Social Networking, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free online on the Cyberpsychology, Behavior, and Social Networking website.

In "Cyberhugs: Creating a Voice for Chronic Pain Sufferers through Technology," author Karin Becker, University North Dakota, Grand Forks, describes the social stigma, gender politics, and professional repercussions that often discourage people affected by chronic pain from talking about it. Her study of the role that online chatrooms dedicated to individuals with chronic pain can have in establishing a sense of community revealed two key themes: the importance of validation and encouragement.

"Online chatrooms may provide another outlet for support for chronic pain sufferers and may work towards removing barriers this population often experiences," says Brenda K. Wiederhold, PhD, MBA, BCIA, Editor-in-Chief of Cyberpsychology, Behavior, and Social Networking, from the Interactive Media Institute, San Diego, CA.

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About the Journal

Cyberpsychology, Behavior, and Social Networking is a peer-reviewed journal published monthly online with Open Access options and in print that explores the psychological and social issues surrounding the Internet and interactive technologies, plus cybertherapy and rehabilitation. Complete tables of content and a sample issue may be viewed on the Cyberpsychology, Behavior, and Social Networking website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Games for Health Journal, Telemedicine and e-Health, and Journal of Child and Adolescent Psychopharmacology. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 70 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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Can online chat rooms and 'cyberhugs' help chronic pain sufferers cope?

Recommendation and review posted by Bethany Smith

Public release date: 19-Mar-2013 [ | E-mail | Share ]

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

New Rochelle, NY, Mar 19, 2013Chronic fatigue, a persistent lack of energy that does not improve with rest, is at least three times more prevalent among adult survivors of acute lymphoblastic leukemia and lymphoma experienced during childhood or adolescence than in the general adult population, according to an article in Journal of Adolescent and Young Adult Oncology (JAYAO), (http://www.liebertpub.com/JAYAO) a multidisciplinary peer-reviewed publication from Mary Ann Liebert, Inc., publishers. (http://www.liebertpub.com) JAYAO is the Official Journal of the Society for Adolescent and Young Adult Oncology (http://www.sayao.org). The article is available online on the JAYAO (http://www.liebertpub.com/JAYAO) website.

Chronic fatigue can negatively affect a person's health-related quality of life and ability to work and carry out normal daily functions. Authors Hanne Hamre, MD and colleagues Oslo University Hospital and University of Oslo Norway used a questionnaire, clinical examination, and blood samples to compare adult survivors of childhood leukemia and lymphoma to a control group from the general population. The prevalence of chronic fatigue was 27% among the cancer survivors compared to 8% among controls.

In the article "High Prevalence of Chronic Fatigue in Adult Long-Term Survivors of Acute Lymphoblastic Leukemia and Lymphoma during Childhood and Adolescence," (http://online.liebertpub.com/doi/full/10.1089/jayao.2012.0015) the authors describe factors predictive of chronic fatigue among the adult cancer survivors and present blood analysis findings suggestive of a persistent low-grade inflammatory response that may contribute to the chronic fatigue.

"Chronic fatigue in cancer survivors is often an under-appreciated complication of treatment," says Editor-in-Chief Leonard S. Sender, MD, of the University of California, Irvine and CHOC Children's Hospital. "There is a general belief that after successful treatment a survivor should be able to bounce back without lasting effects. Hamre and colleagues demonstrate that fatigue is a larger problem than generally appreciated. Their findings put a spotlight on this key aspect of cancer survivorship and serve to encourage the medical community to communicate with cancer survivor patients about possible chronic fatigue."

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About the Journal

Journal of Adolescent and Young Adult Oncology (JAYAO) (http://www.liebertpub.com/JAYAO) is a quarterly peer-reviewed journal, published online with Open Access options (http://www.liebertpub.com/openaccess/jayao) and in print, dedicated to the promotion of interdisciplinary research, education, communication, and collaboration between health professionals in AYA oncology. JAYAO provides a forum for AYA cancer research and practice advances for all professional participants and researchers in care for AYA-aged cancer patients and survivors. Our multidisciplinary editorial board and readership includes but is not limited to: pediatric, medical, and surgical oncologists of all types and specialties; oncology nurses and advanced practice staff; psychosocial and supportive care providers including psychiatrists, psychologists, and social workers; translational cancer researchers; and academic- and community-based pediatric and adult cancer institutions. Complete tables of content and a sample issue (http://online.liebertpub.com/toc/jayao/1/1) are available on the Journal of Adolescent and Young Adult Oncology (JAYAO) (http://www.liebertpub.com/JAYAO) website.

About the Society

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Are survivors of childhood leukemia and lymphoma at greater risk of chronic fatigue as adults?

Recommendation and review posted by Bethany Smith

Advances in genetic engineering have some biologists convinced theyll re-create extinct species.

Home to roost: The last living passenger pigeon, Martha, can be found, stuffed, in the National Museum of Natural History in Washington, D.C.

Passenger pigeons once darkened the skies over the eastern United States. Huge flocks would roost on chestnut trees, their weight snapping off branches. By 1914, though, humans had hunted the bird to extinction.

Now, a project to reanimate the pigeon using genetic engineering is drawing new attention to the question of de-extinction, or whether biotechnology can help conserve rare animals and even restore others that dissapeared eons ago.

The passenger pigeon effort, known as Revive and Restore, is being paid for by the Long Now Foundation, a nonprofit led by entrepreneur and author Stewart Brand (see Environmental Heresies), who has been stirring interest in the idea of de-extinction by organizing meeting of key researchers, including one last week at the National Geographic Society in Washington, D.C.

Some scientists are convinced the technology is feasible. Not only is sequencing of extinct genomes a reality, but revival of extinct species is within reach, said Hendrik Poinar, a researcher at McMaster University in Ontario, Canada.

The idea of reviving extinct species first gained attention a decade ago, after Dolly the sheep was born via cloning. Since then, advances in DNA sequencing have made it theoretically possible to bring back even ancient species, like the woolly mammoth. Already, researchers have re-created some micorganisms, like the 1918 flu virus, from genetic material found in corpses from the period. Some leading scientists are also creating astartup company that intends to help implement de-extinction (see A Stealthy De-Extinction Startup.)

Its going to be iterative and a convergence of technologies, said Ryan Phelan, a biotech entrepreneur who is married to Brand. I think de-extinction is an empowering face for applying genomics in new domains.

Globally, there appear to be about half a dozen projects aimed at re-creating extinct animals. Those most likely to succeed in the near term involve cases where researchers have access to cells preserved in liquid nitrogen.

In Australia, for instance, researcher Mike Archer of the University of New South Wales says he is now trying to clone the gastric breeding frog, an species known for gestating its young in its stomach and giving birth through its mouth. Archer says hes using cells frozen by a colleague in the 1970s, shortly before the last of the animals disappeared.

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An Unlikely Plan to Revive the Passenger Pigeon

Recommendation and review posted by Bethany Smith

Re "Genetic crops, world food supply on UCD agenda" (Our Region, March 17): Edward Ortiz raises important questions regarding the relevance of genetically engineered crops to efforts to meet global food needs. Unfortunately, UC Davis professor Eduardo Blumwald misleads readers with assertions that genetically modified crops can feed the world.

In reality, the GE biotech industry has consistently failed to deliver on such promises. Industry data reveal that virtually 100 percent of commercial GE seeds have been engineered to either contain an insecticide or be used with herbicides. GE seeds are essentially the growth engine of the pesticide industry. It's a pity that UCD plant researchers still claim ignorance about the weight of global scientific evidence, which points towards ecological agriculture as our most reliable way to feed the world while conserving soil, water and biodiversity - resources critical to sustainable food production. Happily, ecological farming -- along with a rigorous commitment to democratic processes and equitable trade -- can succeed where narrow genetic fixes have failed.

-- Marcia Ishii-Eiteman, Oakland

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Ecological farming, not genetic engineering , will feed the world

Recommendation and review posted by Bethany Smith

REDWOOD CITY, Calif. and BOSTON, March 19, 2013 /PRNewswire/ --Ingenuity Systems, a leading provider of biomedical information and genomics analysis solutions, and GeneInsight, a wholly owned subsidiary of Partners HealthCare and a leading developer of software to support reporting for genetic testing laboratories, today announced that they will collaborate on an integrated workflow solution, encompassing the annotation, analysis, assessment and reporting of human variants from sequencing-based tests. The ability to provide the clinical laboratory market with a seamlessly integrated workflow to support next generation sequencing-based tests takes a significant step forward with this collaboration.

The current bottleneck for clinical laboratories offering NGS-based tests is the interpretation and clinical assessment of the genetic variants found in each patient. With strong annotation and filtration tools, the interpretative process becomes more scalable for gene panel, exome and whole genome data sets. Through the combined offering, Ingenuity will provide content and software for the analysis and biological interpretation of variants from sequencing-based tests and the Ingenuity offering will be interfaced with the GeneInsight Suite. GeneInsight will provide genetic testing laboratories and providers with networked infrastructure to support interpretation, reporting, and management of genetic data.

"The combined solution will incorporate knowledge about genomic variation from the Ingenuity offering with GeneInsight's knowledge management and reporting infrastructure, helping to streamline the overall workflow for very broad spectrum tests," said Heidi Rehm, PhD, Chief Laboratory Director, Partners' Laboratory for Molecular Medicine. "With the collaboration between GeneInsight and Illumina announced last fall, this truly integrated solution will go a long way towards making NGS-based technology more accessible in the clinic."

According to Doug Bassett, Chief Scientific Officer and Chief Technology Officer, Ingenuity Systems, "Clinical assessment of variants is all about the contentquickly and accurately evaluating relevant literature, databases and prior clinical observations to identify clinically relevant and actionable variants. The synergy of Ingenuity's extensive Knowledge Base of expert-curated clinical literature content with GeneInsight's knowledge management infrastructure and clinical reporting capabilities is a powerful combination for reference labs looking to streamline and scale variant assessment for sequence-based tests."

About Ingenuity SystemsIngenuity Systems is a leading provider of biomedical information and analysis solutionsfor the exploration, interpretation and analysis of complex biological systems inlife science research and molecular diagnostics.Today, Ingenuity's solutions are used by tens of thousands of researchers and clinicians at hundreds of leading pharmaceutical, biotechnology, academic, diagnostic and clinical institutions worldwide.

About GeneInsight, LLCGeneInsight LLC (www.geneinsight.com) is a wholly-owned subsidiary of Partners HealthCare. GeneInsight Suite was developed by Partners HealthCare in collaboration with leading geneticists, laboratory operations personnel, practicing physicians and IT professionals. GeneInsight has been in clinical use since 2005 and has supported the interpretation and reporting workflow for more than 28,000 complex genetic tests across multiple diagnostic reference laboratories, including Partners HealthCare Laboratory for Molecular Medicine.

About Partners HealthCarePartners HealthCare is an integrated health system founded by Brigham and Women's Hospital and Massachusetts General Hospital. In addition to its two academic medical centers, the Partners system includes community and specialty hospitals, a managed care organization, community health centers, a physician network, home health and long-term care services, and other health-related entities. Partners is one of the nation's leading biomedical research organizations and a principal teaching affiliate of Harvard Medical School.Partners HealthCare is a non-profit organization.

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Ingenuity Systems and GeneInsight to Deliver an Interpretation and Reporting Workflow Solution to Clinical Laboratories

Recommendation and review posted by Bethany Smith

SALT LAKE CITY & SAN CARLOS, Calif.--(BUSINESS WIRE)--

ARUP Laboratories, a leading national clinical and anatomic pathology reference laboratory, and Natera, a leading innovator in reproductive and prenatal genetic testing, today announced that Nateras non-invasive prenatal screening test, Panorama, is available to ARUP clients nationwide.

The test is available for the detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and select sex chromosome abnormalities, such as monosomy X (Turners syndrome).

Demand for non-invasive prenatal testing continues to grow, especially following the recommendation by the American Congress of Obstetricians and Gynecologists of use of the tests in high-risk pregnancies, said Edward Ashwood, M.D., president and CEO of ARUP. We are very pleased to partner with Natera to offer non-invasive prenatal testing to physicians and patients.

Added Matthew Rabinowitz, Ph.D., chief executive officer of Natera, Panorama has shown it has superior sensitivity and specificity compared to other non-invasive prenatal tests currently available, demonstrating that it is the best non-invasive prenatal testing choice for pregnant women today. We are pleased to partner with ARUP to enable Panorama to be offered to a broad network of hospitals, granting even more patients access to our best-in-class test.

ARUP is a national reference laboratory that provides tests to an extensive network of U.S.-based hospitals. ARUP's clients include more than half of the nation's university teaching hospitals and children's hospitals, as well as many other hospital networks and groups. Hospital laboratories provide patients with key tests that improve patient care, and are expected to play an increasingly important role in patient treatment as the use of molecular diagnostics grows. Hospital labs can order Panorama via ARUPs test code #2007537.

In clinical validation studies, Panorama demonstrated a sensitivity of greater than 99% when detecting common chromosomal abnormalities such as trisomy 21, trisomy 18 and trisomy 13; and 92% when detecting monosomy X. In addition, the Panorama test has had no false positives for all the syndromes tested in three clinical trials. The test uses fetal cell-free DNA found in maternal blood and works as early as nine weeks gestation. Panoramas clinical validation data was presented at the annual Society of Maternal Fetal Medicine Meeting on Feb. 15, 2013.

Panoramas technology analyzes, in a single reaction, 19,500 single nucleotide polymorphisms (SNPs), which are the most informative portions of an individuals DNA. It utilizes the NATUS [Next-generation Aneuploidy Testing Using SNPs] algorithm, an advanced version of Nateras proprietary informatics. Panorama has been validated globally and is currently being evaluated in several other clinical trials for the detection of genetic disorders, including trisomy 21, trisomy 18, trisomy 13, monosomy X, XXY, XYY, XXX and triploidy. The test uses a simple blood draw from the mother and can be performed within the first trimester of pregnancy, as early as nine weeks, without any risk to the fetus.

About Natera

Natera is a genetic testing company that has developed a proprietary bioinformatics-based technology (NATUS) to deliver accurate and comprehensive high-throughput testing for reproductive indications from tiny quantities of DNA. Natera operates a CLIA-certified laboratory in San Carlos, Calif., providing a host of preconception and prenatal genetic testing services. Test offerings include pre-implantation genetic diagnosis to identify chromosomal anomalies or inherited genetic conditions in embryos generated during an IVF cycle; products-of-conception testing following miscarriage to rapidly and extensively analyze fetal chromosomes in order to understand the cause of the pregnancy loss; non-invasive prenatal testing to determine paternity; carrier screening tests to detect whether parents carry genetic variations that may result in disease in the child; and Panorama, a safe, simple test for pregnant women that identifies the most common chromosomal anomalies in a fetus as early as nine weeks. Natera's PreNATUS clinical trial for non-invasive screening of fetal chromosomal anomalies is funded by the NIH and is being conducted by the leaders in maternal-fetal medicine in the United States. For more information, visit http://www.natera.com.

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ARUP Laboratories Announces Availability of Natera’s Non-Invasive Prenatal Test, Panorama™

Recommendation and review posted by Bethany Smith

WORCESTER, Mass. and MADISON, N.J., March 18, 2013 /PRNewswire/ --Athena Diagnostics, a leader in neurological diagnostics, today announced the clinical availability of new genetic tests to aid the detection of several rare neurological disorders, including hereditary neuropathy, neuromuscular disease, epilepsy and certain movement disorders. The lab-developed tests are available through Athena Diagnostics, a business of Quest Diagnostics (DGX), the world's leading provider of diagnostic information services.

The testswill be unveiled during the American Academy of Neurology Annual Meeting in San Diego, March 16-23, 2013 (Booth 1413).

The tests streamline the diagnostic process by using gene sequencing andbioinformatics to evaluate many clinically-relevant genes with a single blood draw. Test reports provide information to assist clinicians and genetic counselors in confirming a diagnosis, developing a targeted treatment plan and managing patient care.

The new services include expanded testing for Charcot-Marie-Tooth disease (CMT), a hereditary motor sensory neuropathy for which early accurate diagnosis is critical to ensure patients avoid contra-indicated medications which can worsen symptoms.They also include DNA sequencing tests for myofibrillar myopathy (MFM), a debilitating disease that can lead to cardiac and respiratory complications, but is often confused with CMT and other conditions.Athena provides a broad diagnostic menu for MFM that may help physicians identify the disorder, hastening the use of aggressive supportive care that may maximize functional activity and prolong life expectancy.

In addition, the company is offering new tests for hereditary sensory and autonomic neuropathy (HSAN), hereditary neuralgic amyotrophy (HNA), hypokalemic periodic paralysis (HOKPP), limb girdle muscular dystrophy (LGMD), benign familiar infantile epilepsy and familial paroxysmal kinesigenic dyskinesia (FPKD).

Athena Diagnostics' clinical laboratory in Worcester, Mass. developed, validated and now offers the new tests.

"The genetic causes of neurological disorders are sometimes difficult to diagnose without reliable tests that are guided by specific clinical phenotypes," said Joseph J. Higgins, MD, FAAN, medical director for Quest Diagnostics Neurology and Athena Diagnostics. "In addition, overlapping clinical signs and symptoms in certain rare, neurogenetic disorders present a different challenge for physicians. The new test servicesfor evaluating epilepsy and neuromuscular disorders will aid physicians in diagnosing these diseases, some of whichmay be amenable to treatment,and assist in the diagnosis of other potentially affected family members.The results will also better prepare patients and their families to make informed life decisions based on their health risks."

In addition,scientists from Athena Diagnostics with report new research findings during the conference. The presentations include results of a study with experts from Penn State College of Medicineon the relative prevalence of subtypes of limb girdle muscular dystrophies(poster PO7.030). The study,based on nearly500 test results, is believed to be the largest cohort of genetically confirmed LGMD cases.

The newtests and researchbuild on Athena's leadership in diagnosticinformation servicesfor rare and esoteric disorders. Athena Diagnostics was the first laboratory company to offer a clinically validated C9orf72 genetic test to aid in the diagnosis of familial and sporadicamyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.

Athena Diagnostics is also a leader in genetic testing services for dementia, including Alzheimer's disease. Quest Diagnostics today unveiled a neurology test panel for aiding the detection of secondary causes of dementia.Medical experts at Athena Diagnostics advised Quest's scientists on the panel's concept.

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Athena Diagnostics Announces New Genetic Testing Services for Rare Neurological Disorders

Recommendation and review posted by Bethany Smith