Archive for the ‘Gene Therapy Research’ Category

SANTA CLARA, Calif.--(BUSINESS WIRE)--

The ability of NextBio Clinical to rapidly identify biomarkers and possible disease targets in an aggressive form of breast cancer was highlighted this week in a poster presentation at the American Society of Clinical Oncologys 2012 Breast Cancer Symposium. NextBio Clinical was used to investigate a cohort of published patient data, curated by NextBio, for key differences between Triple Positive Breast Cancer (TPBC) and Triple Negative Breast Cancer (TNBC), a form of the disease that offers a worse prognosis for those diagnosed. Results of the study quickly identified several key differences in gene expression and methylation status between the two breast cancer types, as well as a novel biomarker and potential alternate way of treating TNBC.

This study clearly demonstrates the power of curated public data and the ability of NextBios sophisticated computational engine to employ big data technology for rapid discovery in translational research studies, said Anita Umesh, Ph.D., NextBio scientist and lead author of the study. Our work involved stratification of a patient population and comparison of the biomarkers between the two patient sub-groups, an otherwise complex task that was easily accomplished in a short amount of time by the NextBio platform. A similar process can be applied by all NextBio users in their translational research projects to enable unique insights.

The researchers first stratified the NextBio-curated TCGA roster of breast cancer patients into two distinct groups: those with Triple Positive Breast Cancer (TPBC) versus those with Triple Negative Breast Cancer (TNBC). A comparison of the two cohorts in NextBio Clinical identified a biomarker Anterior Gradient 3 or AGR3, which was reduced in the TNBC group but up-regulated in the TPBC group. The researchers also found significant differences in the methylation status of the AGR3 gene between TPBC and TNBC, with significantly higher percentage of hypo-methylation in the former, suggesting that methylation was a regulatory mechanism for the gene.

These findings, along with the fact that reduction of AGR3 was associated with severe mutations of TP53, suggest that the AGR3 gene should be further evaluated to identify alternate ways of treating TNBC, said Dr. Umesh. Triple Negative Breast Cancer patients have a much worse prognosis than those that are triple positive. The ability to rapidly identify novel biomarkers and potential targets for drug discovery offers the opportunity to improve future outcomes for this hard-to-treat form of breast cancer.

About NextBio

NextBio provides a state of the art scientific platform to aggregate and interpret large quantities of molecular and other life sciences data for research and clinical applications. NextBios platform integrates data from multiple repositories and diverse technologies by means of a unique correlation engine, which pre-computes billions of significant connections between disparate public and proprietary clinical and experimental data. This feature enables interpretation of an individuals molecular data. It also provides translational researchers the ability to look across the clinical and molecular data of entire populations for clinical trial stratification and selection, hypotheses generation, and biomarker discovery. NextBio Clinical, which recently passed an independent HIPAA audit, is designed for seamless integration with existing clinical and research systems. Backed by highly scalable, Big Data technology, it is capable of analyzing petabytes of data. NextBios platform is delivered as a SaaS (Software as a Service) solution resulting in quick deployment and rapid return on investment.

Today, NextBio is used by researchers and clinicians in over 50 top commercial and academic institutions including the University of Southern California, Sanford-Burnham Medical Research Institute, Celgene, Eli Lilly, Genzyme, Johnson & Johnson, Merck, Regeneron, Scripps Research Institute, Stanford University, University of California at Berkeley, Takeda and many others. To learn more about NextBio, please visit our website at http://www.nextbio.com.

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Research Study of Triple Negative Breast Cancer Highlights Ability of NextBio Clinical to Identify Biomarkers

Oxford researchers have discovered the first single gene responsible for insulin sensitivity in humans. Since the opposite condition of insulin resistance is a significant marker of type 2 diabetes, the discovery could potentially lead to new pathways for diabetes drugs and future treatments.

The scientists decided to look at the gene PTEN based on previous studies, which examined common variants across the human genome that might lead to an increased risk for diabetes.

Theyve shown a link between the cell cycle and a risk for type 2 diabetes, which has started to suggest there might be a genetic overlap in terms of your predisposition for getting diabetes and cancer, study author Dr. Anna Gloyn, of the Oxford Center for Diabetes, Endocrinology and Metabolism at Oxford, told FoxNews.com,

Mutations in just one PTEN gene have been associated with an increased risk of cancers such as breast, womb and thyroid cancer. To go along with this established link, mouse models have shown that PTEN also plays a role in the pathways important for metabolism.

This gene was a good candidate to pick because you could hypothesize that if there was a defect in this gene, it could impact not only cell growth, which would lead to cancer, but it could also affect their metabolic outcome, Gloyn said.

The scientists, interested in learning more about the genes dual role, recruited people in the U.K. with a condition known as Cowden syndrome, which is caused by a faulty mutation in the PTEN gene. People with Cowden syndrome have a higher risk for cancer and often develop polyps on their skin, mouth and bowels.

Cowden syndrome is rare; only one out of every 200,000 people have the condition. An estimated 300 people have the condition in the U.K., which made it difficult for the researchers to study. However, they were able to assemble 15 people with the condition, matching each participant with a healthy counterpart who served as their control test subject.

Both the participants and the control subjects were given glucose drinks to see how well their bodies could cope. Those with Cowden syndrome showed increased insulin sensitivity.

With very low amounts of this [insulin] hormone, they could clear the glucose from their system, Gloyn said. the cells in our pancreas are responsible for secreting insulin which helps to clear glucose from our blood. The people who have these mutations respond very quickly to lower levels of glucose.

For those suffering from type 2 diabetes, the opposite is true. The bodys insulin is less effective at clearing glucose essentially sugar from the blood. Because it is more difficult for their bodies to metabolize glucose, people who suffer from diabetes are typically overweight or obese. Drugs used to combat diabetes typically strive to boost insulin sensitivity.

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Single gene mutation found to cause insulin sensitivity

Lung cancer image; Credit: Shutterstock

Smokers who have lung cancer suffer 10-times more genetic mutations in tumours than non-smokers with the disease, a new study shows.

The findings of the research, from the Washington University School of Medicine in St. Louis, USA, have just been published in the journal Cell.

Senior author Richard K. Wilson, PhD, who is director of The Genome Institute at Washington University, says, "None of us were surprised that the genomes of smokers had more mutations than the genomes of never-smokers with lung cancer. But it was surprising to see 10-fold more mutations. It does reinforce the old message - don't smoke."

The study identified around 3,700 mutations in 17 patients suffering from non-small cell lung cancer, which is the most common type. All but five of them were smokers.

In each non-smoker, the researchers discovered at least one mutated gene that is able to be treated with drugs currently available for other diseases or through clinical trials. In all patients, they found 54 mutated genes linked with existing drugs.

First author Ramaswamy Govindan, MD, an oncologist who treats patients at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University, says, "Whether these drugs will actually work in patients with these DNA alterations still needs to be studied.

"But papers like this open up the landscape to understand what's happening. Now we need to drill deeper and do studies to understand how these mutations cause and promote cancer, and how they can be targeted for therapy."

There are two types of lung cancer - small cell and non-small cell. Around 85% of all cases are non-small cell and they are split into three more classifications. This current study examined two of them - adenocarcinoma - that was linked to 16 patients and large-cell carcinoma that one patient had.

Ramaswamy Govindan, who is national co-chair of the lung cancer group, and Richard K Wilson also took part in a bigger genomic study of 178 patients with the third type, squamous cell carcinoma, which was recently detailed in the journal Nature and was part of The Cancer Genome Atlas project that aims to describe the genetics of common cancers.

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Lung cancer tumours in smokers have 10-times more genetic mutations

FARMINGTON, Conn., Sept. 13, 2012 /PRNewswire-iReach/ -- Global Information Inc. is pleased to announce a limited time offer on personalized medicine, next generation sequencing (NGS) and epigenetics research from Takeda Pacific, a bio/pharmaceutical and life sciences industry analyst firm based in California.

(Photo: http://photos.prnewswire.com/prnh/20120913/CG74123)

Personalized Medicine: Companies, Trends and World Market

The Personalized Medicine market includes significant core medical product areas that will continue to have a powerful impact on current and future healthcare delivery. The science driving personalized medicine includes pharmacogenetics, pharmacogenproteomics and pharmacometabalomix. Personalized medicine uses a targeted drug that depends on the patient information identified by a companion diagnostic (genetic biomarker test).

This report examines key market segments such as targeted drugs and key personalized medicine diagnostics, including companion diagnostic IVDs, LDTs, diagnostic services and related tools or technologies. Important technologies examined include: microarray, next-generation sequencing, polymerase chain reaction (PCR), bioinformatics, nanotechnology and other platforms. The report highlights new personalized diagnostics and also covers key biomarkers, commercial diagnostics and therapeutics that drive personalized medicine.

Save up to 20% by purchasing this report before October 15, 2012.

For a detailed executive summary, sample charts, and table of contents, or to request free sample pages from the full report, please visit http://www.giiresearch.com/report/tak238167-personalized-medicine-companies-trends-world.html

Epigenetics: Technologies, Drugs, Diagnostics, and World Market

Many people already know about DNA, genes and the human genome. The DNA code defines the structure of who we are, our potential health and our characteristics that we pass on to our children. Epigenetics refers to the second code of life and links environmental impacts to a person's health. Epigenetic mechanisms signal how and when genes are activated or silenced.

This research study discusses the market for life science tools and technologies that support epigenetics R&D. The report discusses important technologies, equipment and consumables including microarray, next-generation sequencing, PCR and other platforms. Topics such as microRNA and human stem cells are lightly covered.

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How to Differentiate Your Pharmaceutical Product in the Personalized Medicine Segment

Newswise Lung cancer patients with a history of smoking have 10 times more genetic mutations in their tumors than those with the disease who have never smoked, according to a new study from Washington University School of Medicine in St. Louis.

None of us were surprised that the genomes of smokers had more mutations than the genomes of never-smokers with lung cancer, says senior author Richard K. Wilson, PhD, director of The Genome Institute at Washington University. But it was surprising to see 10-fold more mutations. It does reinforce the old message dont smoke.

The study appears online Sept. 13 in Cell.

Overall, the analysis identified about 3,700 mutations across all 17 patients with non-small cell lung cancer, the most common type. Twelve patients had a history of smoking and five did not. In each patient who never smoked, the researchers found at least one mutated gene that can be targeted with drugs currently on the market for other diseases or available through clinical trials. Across all patients, they identified 54 mutated genes already associated with existing drugs.

Whether these drugs will actually work in patients with these DNA alterations still needs to be studied, says first author Ramaswamy Govindan, MD, an oncologist who treats patients at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University. But papers like this open up the landscape to understand whats happening. Now we need to drill deeper and do studies to understand how these mutations cause and promote cancer, and how they can be targeted for therapy.

Lung cancer is divided into two types small cell and non-small cell, the latter accounting for about 85 percent of all cases. Within non-small cell lung cancer are three further classifications. This current analysis included two of them. Sixteen patients had adenocarcinoma and one had large-cell carcinoma.

Govindan and Wilson also were involved in a larger genomic study of 178 patients with the third type, squamous cell carcinoma, recently reported in Nature. That study was part of The Cancer Genome Atlas project, a national effort to describe the genetics of common cancers.

Over the next year or so, we will have studied nearly 1,000 genomes of patients with lung cancer, as part of The Cancer Genome Atlas, says Govindan, who serves as a national co-chair of the lung cancer group. So we are moving in the right direction toward future clinical trials that will focus on the specific molecular biology of the patients cancer.

Indeed, based on the emerging body of genetic research demonstrating common mutations across disparate cancer types, Wilson speculates that the field may reach a point where doctors can label and treat a tumor based on the genes that are mutated rather than the affected organ. Instead of lung cancer, for example, they might call it EGFR cancer, after the mutated gene driving tumor growth. Mutations in EGFR have been found in multiple cancers, including lung, colon and breast.

This labeling is relevant, Wilson says, because today targeted therapies are approved based on the diseased organ or tissue. Herceptin, for example, is essentially a breast cancer drug. But he has seen lung cancer patients with mutations in the same gene that Herceptin targets.

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In Lung Cancer, Smokers Have 10 Times More Genetic Damage Than Never-Smokers

Shares of Response Genetics Inc. jumped nearly 40 percent on Thursday after the Los Angeles diagnostic test developer said it raised $8.8 million in a private placement of its stock, mostly acquired by British drug maker GlaxoSmithKline Plc.

The private placement was composed of 8 million new common shares, priced at $1.10 a share. In its own press release, GlaxoSmithKline, which is based in the London suburb of Brentford, said it bought 5 million of the shares, giving it a 15.2 percent stake in Response Genetics, which specializes in molecular diagnostic tests for cancer.

Response Genetics, which provides services that help GlaxoSmithKline evaluate experimental cancer drugs and vaccines, said the remaining shares were bought by an existing large stockholder whom it did not identify.

"The capital raised will help support our continued efforts in building a sustainable business of high value genetic tests for cancer patients as well as a premier pharmaceutical services business, said Chief Executive Thomas Bologna in a statement. He added that the company hoped to grow top line revenue with the investment.

Prior to Thursdays announcement, shares had fallen 41 percent since the beginning of the year as the company reported declining revenue because old service contracts expired. Bologna, who joined the company in December, said in March that the company planned to more aggressively pursue new collaborations with pharmaceutical clients through its services businesses.

Shares closed up 33 cents, or 37 percent, to $1.23 on the Nasdaq.

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Response Genetics’ Stock Zooms After GlaxoSmithKline Invests

NEW YORK (GenomeWeb News) Response Genetics has raised $8.8 million through a private placement of its stock with GlaxoSmithKline and an existing "significant" stockholder, the firm said today.

The Los Angeles-based molecular diagnostics firm placed 8 million newly issued shares of its common stock at a price of $1.10 per share. The placement closed today.

"We are pleased to welcome GlaxoSmithKline as a new investor, given our long-standing relationship," Thomas Bologna, chairman and CEO of Response Genetics, said in a statement. "The capital raised will help support our continued efforts in building a sustainable business of high value genetic tests for cancer patients as well as a premier pharmaceutical services business."

Response Genetics inked a deal with GlaxoSmithKline in 2010, under which it licensed to the drug giant non-exclusive rights to its PCR technology and agreed to provide diagnostic expertise to assess BRAF gene mutations in human tumor samples. The firm also has provided GSK with genetic testing services to support its drug development programs.

In Thursday morning trade on the Nasdaq, shares of Response Genetics were up 47 percent at $1.33.

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Response Genetics Raises $8.8M in Financing

LOS ANGELES, Sept. 13, 2012 /PRNewswire/ --Response Genetics, Inc. (RGDX) announced today that it has entered into a purchase agreement with GlaxoSmithKline and one of its existing significant stockholders to raise $8.8 million from the private placement of 8,000,000 newly issued shares of its common stock at a purchase price of $1.10 per share.

The signing of the purchase agreement and closing of the financing occurred today, Thursday, September 13, 2012.

"We are pleased to welcome GlaxoSmithKline as a new investor, given our long standing relationship," said Thomas Bologna, chairman and chief executive officer of Response Genetics, Inc. "The capital raised will help support our continued efforts in building a sustainable business of high value genetic tests for cancer patients as well as a premier pharmaceutical services business. Going forward we will continue to implement additional operational efficiencies, as evidenced by our improved financial performance relative to the fourth and subsequent quarters of last year, and will also increase our focus and efforts on growing top line revenue."

The securities sold in the private placement have not been registered under the Securities Act of 1933, as amended, or state securities laws and may not be offered or sold in the United States absent registration with the Securities and Exchange Commission ("SEC") or an applicable exemption from the registration requirements. Response Genetics, Inc. has agreed to file a registration statement with the SEC covering the resale of the shares of common stock issued in the private placement. This press release shall not constitute an offer to sell or the solicitation of an offer to buy Response Genetics, Inc.'s common stock.

Thomas A. Bologna, Response Genetic's chairman & chief executive officer, will present at the UBS 2012 Global Life Sciences Conference taking place at the Grand Hyatt in New York City on Thursday, September 20, 2012 at 11:00 a.m. ET.

Interested investors can access a live webcast of the presentation by going to the Investor Relations tab on the Response Genetics website: http://www.responsegenetics.com. A replay of the webcast will be made available on the company's website for 60 days.

About Response Genetics, Inc.

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

Forward-Looking Statement Notice

Except for the historical information contained herein, this press release and the statements of representatives of the Company related thereto contain or may contain, among other things, certain forward-looking statements, within the meaning of the Private Securities Litigation Reform Act of 1995.

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Response Genetics Raises $8.8 Million in Financing

Public release date: 12-Sep-2012 [ | E-mail | Share ]

Contact: University of Oxford press office press.office@admin.ox.ac.uk 44-186-528-0530 University of Oxford

The first single gene cause of increased sensitivity to the hormone insulin has been discovered by a team of Oxford University researchers.

The opposite condition insulin resistance is a common feature of type 2 diabetes, so finding this cause of insulin sensitivity could offer new opportunities for pursuing novel treatments for diabetes.

Although mutations in the PTEN gene cause a rare condition with increased risk of cancer, the biological pathways the gene is involved in could offer promising targets for new drugs.

The Oxford University researchers, along with colleagues at the Babraham Institute in Cambridge, UK, and the Churchill Hospital in Oxford, UK, report their findings in the New England Journal of Medicine. The study was funded by the Wellcome Trust, the Medical Research Council, the National Institute for Health Research Oxford Biomedical Research Centre, and the Biotechnology and Biological Sciences Research Council.

'Insulin resistance is a major feature of type 2 diabetes,' says Dr Anna Gloyn of the Oxford Centre for Diabetes, Endocrinology and Metabolism at the University of Oxford, who led the work. 'The insulin-producing cells in the pancreas may be working hard and pumping out lots of insulin, but the body's cells no longer respond.

'Finding a genetic cause of the opposite insulin sensitivity gives us a new window on the biological processes involved. Such understanding could be important in developing new drugs that restore insulin sensitivity in type 2 diabetes.'

The PTEN gene encodes for an enzyme that is part of the insulin signalling pathway in the body. It is known to have a role in controlling the body's metabolism, and to play a part in cell growth. The Oxford team was interested in learning more about this dual role.

There is an inherited genetic condition called Cowden syndrome caused by faults in the PTEN gene. It is very rare and is thought to affect perhaps one in 200,000 people, with around 300 people with the condition in the UK. PTEN's role in cell growth sees people with Cowden syndrome develop many benign polyps in their skin, mouth and bowel, and have a higher risk than the general population of developing breast cancer, thyroid cancer and womb cancer.

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Single gene cause of insulin sensitivity may offer insight for treating diabetes

Public release date: 12-Sep-2012 [ | E-mail | Share ]

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

New Rochelle, NY, September 12, 2012New evidence-based guidelines have been released for the diagnosis and treatment of hypothyroidism, a complex disease caused by an underactive thyroid gland that cannot produce enough thyroid hormone. These updated clinical recommendations are published in Thyroid (http://www.liebertpub.com/thy), a peer-reviewed journal from Mary Ann Liebert, Inc., publishers (http://www.liebertpub.com). The new guidelines (http://online.liebertpub.com/doi/pdfplus/10.1089/thy.2012.0205), developed jointly by the American Thyroid Association (ATA) (http://www.thyroid.org) and American Association of Clinical Endocrinologists (AACE) (http://www.aace.com), are available free online on the Thyroid (http://www.liebertpub.com/thy) website.

A task force representing the ATA and AACE reviewed the medical literature and current standards of care and developed updated recommendations that are presented in the article by lead author Jeffrey R. Garber, MD, Harvard Vanguard Medical Associates and Beth Israel Deaconess Medical Center, Boston, MA, and colleagues.

"The members of the guidelines committee should be congratulated for providing a state-of-the-science update on the diagnosis and treatment of hypothyroidism, and for giving practitioners practical recommendations on how to manage this common clinical condition," says James A. Fagin, MD, president of the American Thyroid Association (ATA).

Charles H. Emerson, MD, Editor-in-Chief of Thyroid and Professor Emeritus of Medicine, University of Massachusetts Medical School, Worcester, MA, says "The guidelines address a wide-ranging number of issues that clinicians encounter in treating a disorder that affects millions of men worldwide and an even far greater number of women. They deal firmly with the problem of inappropriate thyroid hormone administration, both as it concerns individuals who should not be taking thyroid hormone, and patients with hypothyroidism who are given or self-administer suboptimal doses or dangerous formulations for their condition."

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About the Journal

Thyroid (http://www.liebertpub.com/thy), the Official Journal of the American Thyroid Association (http://www.thyroid.org) is an authoritative peer-reviewed journal published monthly in print and online. The Journal publishes original articles and timely reviews that reflect the rapidly advancing changes in our understanding of thyroid physiology and pathology, from the molecular biology of the cell to clinical management of thyroid disorders. Complete tables of content and a sample issue (http://online.liebertpub.com/toc/thy/21/6) may be viewed online on the Thyroid (http://www.liebertpub.com/thy) website.

About the Society

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New clinical guidelines for managing hypothyroid disease presented in Thyroid Journal

Public release date: 12-Sep-2012 [ | E-mail | Share ]

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

New Rochelle, NY, September 12, 2012The life disruption and losses experienced by young adults battling advanced cancer can result in a unique burden of grief that is too often overlooked, as described in 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. The article is available free online at the JAYAO (http://www.liebertpub.com/JAYAO) website.

Kelly Trevino, PhD, Paul Maciejewski, PhD, Karen Fasciano, PsyD, and Holly Prigerson, PhD found that beyond the obvious physical challenges cancer presents, this population is at risk for psychological and emotional suffering related to the many ways in which advanced cancer and its treatment may interfere with their educational and career goals, early romantic relationships, parenting responsibilities, and financial and personal independence.

"Patients are grieving not only the effects of their cancer, but also for the life stages and transitions they would normally be experiencing as a young adult, and this article raises the importance of clinical interventions to help these patients cope with the grief associated with cancer-related losses and life disruption," says Editor-in-Chief Leonard S. Sender, MD, University of California, Irvine and CHOC Children's Hospital.

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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 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) may be viewed at the JAYAO (http://www.liebertpub.com/JAYAO) website.

About the Society The Society for Adolescent and Young Adult Oncology (SAYAO) (http://www.sayao.org) is an international professional organization dedicated to improving adolescent and young adult cancer care through the promotion of interdisciplinary research, education, communication, and collaboration among health professionals. Patients and survivors aged 15-39 are a distinct patient population within oncology, and SAYAO focuses on the unique biological, clinical, psychosocial, and survivorship issues of this age group.

About the Publisher

Mary Ann Liebert, Inc., publishers (http://www.liebertpub.com) is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals, including Journal of Palliative Medicine and Cancer Biotherapy and Radiopharmaceutials. 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, newsmagazines, and books is available at the Mary Ann Liebert, Inc., publishers (http://www.liebertpub.com) website.

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How is grief unique to young adults with cancer?

MENLO PARK, Calif., Sept. 12, 2012 (GLOBE NEWSWIRE) -- Pacific Biosciences of California, Inc. (PACB) provider of the PacBio(R)RS High Resolution Genetic Analyzer, today announced that renowned scientist Lucy Shapiro, Ph.D. of Stanford University has joined the Company's Board of Directors.

Dr. Shapiro currently serves as the Virginia and D.K. Ludwig Professor of Cancer Research and the Director of the Beckman Center for Molecular and Genetic Medicine at Stanford University's School of Medicine, where she has been as a faculty member since 1989. Dr. Shapiro is a co-founder and director of Anacor Pharmaceuticals, Inc. In 1989, Dr. Shapiro founded Stanford University's Department of Developmental Biology, and served as its Chairman from 1989 to 1997. Prior to that, Dr. Shapiro served as Chair of the Department of Microbiology and Immunology in the College of Physicians and Surgeons of Columbia University. She received a B.A. from Brooklyn College and a Ph.D. in Molecular Biology from the Albert Einstein College of Medicine.

Dr. Shapiro has received numerous awards and has been elected to the National Academy of Sciences, the American Academy of Microbiology, the American Academy of Arts and Sciences and the Institute of Medicine of the National Academy of Sciences for her work in the fields of molecular biology and microbiology. Dr. Shapiro previously served as a non-executive director of GlaxoSmithKline plc from 2001 to 2006.

"With dramatic changes in population numbers, the global ecology, and human and animal migration, there is increased scientific attention and urgency to the better understanding of pathogenic bacteria and viruses," said Dr. Shapiro. "Discovering the fundamental mechanisms that control these microscopic forms of life is vital for dealing with emerging infectious diseases in today's global village. PacBio's technology provides a window into the world of these bacteria and viruses that was previously inaccessible to the field of microbiology, and I'm excited to join the company's board to help support the company's success in these and other important applications."

Michael Hunkapiller, Chairman and CEO of Pacific Biosciences commented: "Lucy is renowned for her contributions to the fields of developmental biology, molecular biology and genetics, and it is an honor to have a scientist of her caliber join our Board of Directors. She has been a strong supporter of our technology, and we look forward to deepening our relationship and leveraging her expertise in the fields of infectious diseases and cancer research, which are key applications for the PacBio RS."

More information about Pacific Biosciences is available at http://www.pacb.com. You can also follow the company on Twitter: https://twitter.com/pacbio.

About Pacific Biosciences

Pacific Biosciences of California, Inc. (PACB) offers the PacBio(R)RS High Resolution Genetic Analyzer to help scientists solve genetically complex problems. Based on its novel Single Molecule, Real-Time (SMRT(R)) technology, the company's products enable: targeted sequencing to more comprehensively characterize genetic variations; de novo genome assembly to more fully identify, annotate and decipher genomic structures; and DNA base modification identification to help characterize epigenetic regulation and DNA damage. By providing access to genetic information that was previously inaccessible, Pacific Biosciences enables scientists to increase their understanding of biological systems.

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Pacific Biosciences Appoints Lucy Shapiro, Ph.D. to Board of Directors

In his satirical horror novel Breed, Chase Novak has hit upon the perfect blend of terrifying real-life topics: genetic engineering and the mating habits of New York's wealthy 1 percent. The story of two rich but barren Manhattanites, the novel begins as a snarky tour of fertility treatment chic among the city's moneyed classes. But it quickly gets a lot weirder.

On the recommendation of another couple, blue-blood attorney Alex Twisden and his editor wife, Leslie, have one last go at baby making in the bizarre clinic of a creepy Slovenian doctor. The treatment works. They become incredibly fertile but unfortunately they become feral, too.

Novak is the pen name of Scott Spencer, author of the 1970s classic Endless Love, and here he has repurposed his literary flair for observation into grisly narrative schadenfreude. Every disgusting detail ends with a sarcastic barb, a nasty little stinger aimed at the well-toned bodies of our high-toned protagonists. One of the immediate side effects of the mad doctor's treatment is that Alex and Leslie get incredibly hairy and lose their inhibitions about things like hygiene and chewing on the furniture. They devote most of their time to rutting, eating increasingly grotesque slabs of meat and (in Leslie's case) seeking out people willing to do all-over body waxing once a day.

The bulk of Breed is told from the perspective of the Twisden twins, Alice and Adam, who at the age of 10 have realized there is something deeply wrong with their parents. Through the children's eyes, we see that Alex's family manse has fallen into ruin. There is a clever fable about class here, as the Twisdens' tumble down the evolutionary tree mirrors their fall down the economic ladder. No longer able to work, they've sold off their antique furniture to pay for the twins' expensive schooling. They are the monstrous embodiment of downward mobility, struggling to keep up appearances with their rich neighbors.

Fearing that they're about to become their parents' next meal, Alice and Adam flee their home one night Adam running to his saintly, gay teacher's house, and Alice into the clutches of a group of feral children like herself who live in Central Park. Novak imagines that the homeless kids who haunt the park are all the spawn of rich New Yorkers who were patients of the mad Slovenian fertility doctor. Again, it's an interesting metaphor for downward mobility and gives us a glimpse of a genetic-engineering nightmare future. In other words, it's scientifically implausible but symbolically rich.

The main problem with Breed is Novak's clumsy effort to offer us a kind of civilized antidote to the Twisdens in Adam's gay teacher, whose main attributes are kindness, selflessness and about-to-be-lunchmeat-ness. Novak also struggles to depict Adam and Alice vividly; they come across as automatons or placeholders, rather than real children who are discovering that they aren't like any other humans they know.

Still, the book is a delightfully nauseating read. And it's the perfect dark fairy tale for these times, when more than a few readers might secretly find themselves wishing that the world's elites would be brought so low as to start pooping in their own posh living rooms.

Annalee Newitz writes about the intersection of science and culture. She's the editor-in-chief of io9.com and the author of a forthcoming book about how humans will survive a mass extinction.

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Scary Parents Both Fertile And Feral In 'Breed'

ScienceDaily (Sep. 11, 2012) A team of Australian researchers, led by University of Melbourne has developed a genetic test that is able to predict the risk of developing autism spectrum disorder (ASD).

Lead researcher Professor Stan Skafidas, Director of the Centre for Neural Engineering at the University of Melbourne said the test could be used to assess the risk for developing the disorder. "This test could assist in the early detection of the condition in babies and children and help in the early management of those who become diagnosed," he said. "It would be particularly relevant for families who have a history of autism or related conditions such as Asperger's syndrome," he said.

Autism affects around one in 150 births and is characterized by abnormal social interaction, impaired communication and repetitive behaviours. The test correctly predicted ASD with more than 70 per cent accuracy in people of central European descent. Ongoing validation tests are continuing including the development of accurate testing for other ethnic groups.

Clinical neuropsychologist, Dr Renee Testa from the University of Melbourne and Monash University, said the test would allow clinicians to provide early interventions that may reduce behavioural and cognitive difficulties that children and adults with ASD experience. "Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families," she said.

A genetic cause has been long sought with many genes implicated in the condition, but no single gene has been adequate for determining risk. Using US data from 3,346 individuals with ASD and 4,165 of their relatives from Autism Genetic Resource Exchange (AGRE) and Simons Foundation Autism Research Initiative (SFARI), the researchers identified 237 genetic markers (SNPs) in 146 genes and related cellular pathways that either contribute to or protect an individual from developing ASD.

Senior author Professor Christos Pantelis of the Melbourne Neuropsychiatry Centre at the University of Melbourne and Melbourne Health said the discovery of the combination of contributing and protective gene markers and their interaction had helped to develop a very promising predictive ASD test.

The test is based on measuring both genetic markers of risk and protection for ASD. The risk markers increase the score on the genetic test, while the protective markers decrease the score. The higher the overall score, the higher the individual risk.

"This has been a multidisciplinary team effort with expertise across fields providing new ways of investigating this complex condition," Professor Pantelis said.

The study was undertaken in collaboration with Professor Ian Everall, Cato Chair in Psychiatry and Dr Gursharan Chana from the University of Melbourne and Melbourne Health, and Dr Daniela Zantomio from Austin Health.

The next step is to further assess the accuracy of the test by monitoring children who are not yet diagnosed over an extended study. The study has been published today in the journal Molecular Psychiatry.

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Genetic test predicts risk for autism spectrum disorder

WASHINGTON--(BUSINESSWIRE)-- The convergence of new high tech medical and digital tools are revolutionizing health care, according to renowned cardiologist and genetic researcher Eric Topol, who is working to secure widespread use of these innovations to design treatments specifically for patient populations based on their unique genetic maps. During an interview promoting his upcoming address at the Licensing Executives Society (U.S.A. and Canada) Annual Meeting, October 14-17 in Toronto, Dr. Topol urged the medical community to reboot its approach. (www.les2012.org/podcast)

Its a really extraordinary time in medicine that requires us to reboot how we operate as a profession and how we render care. It has a profound rippling effect across the life science industry, academics and the regulatory authority because we have new found capabilities of digitizing each human being to the essence of what makes each person tick, said Dr. Topol.

In his LES keynote address, Connecting & Collaborating: The Convergence of Life Sciences and High Tech, Dr. Topol, who in 2012 was voted the Most Influential Physician Executive in Health Care by Modern Healthcare and Doctor of the Decade by the Institute for Scientific Information, will share his vision for the future and discuss the complicated implications of change.

Were not talking about a little disruption anymore. Were talking about radical innovation that has across the board impact, said Dr. Topol, who added that there has been "remarkable resistance" from the medical community toward the new digital infrastructure he feels is necessary to fully embrace this new individualized and more precise approach to preventive medicine.

At the same time, Dr. Topol says that while the top 3 medicationsHumira, Enbrel, and Remicade-- bring cumulative annual sales of nearly $30 billion, only 40 percent of patients respond to them. He calls the current blockbuster model of pharmaceutical development busted, and suggests that by leveraging new technologies and smaller clinical trials, therapeutics could be advanced more quickly at a lower cost and with enhanced efficacy.

Just as the health care system is in economic crisis, so are the pharmaceutical and biotech industries because their discovery pipelines have run dry and their methods of developing new drugs rely on clinical trials that are immense in size and cost. All of this can be changed if one can demonstrate overwhelming efficacy in a small number of individuals because of some specific information that makes these people likely to respond favorably to a drug, device or diagnostic. That is an extraordinary change.

Topols appearance has ignited widespread interest from IP, licensing and business professionals who are eager to hear how the IP evolution is impacting the life sciences and what it may mean for other industry sectors.

This is a watershed time for those of us in the pharma and biotech industries, said Pamela Demain, Executive Director of Corporate Licensing, Merck & Co. Inc. Eric Topols vision for change builds a powerful case for the convergence of medicine with high tech innovations and the resulting benefits to society. Im really looking forward to his presentation.

To hear the complete interview with Dr. Topol, as well as other podcasts covering highlights of the upcoming LES Annual Meeting, visit http://www.les2012.org/podcast. Meeting registration is available at http://www.les2012.org

About the Licensing Executives Society (U.S.A. and Canada), Inc.

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Licensing Executives Society Annual Meeting Keynote Speaker Eric Topol Says High Tech Medical and Digital Innovations ...

Editor's Choice Main Category: Smoking / Quit Smoking Also Included In: Genetics Article Date: 11 Sep 2012 - 16:00 PDT

Current ratings for: Genetics Predict Smoking Addictions

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In a new study conducted by the Montreal Neurological Institute and Hospital, The Neuro, McGill University, findings show people with a fast nicotine metabolism have a greater brain response to smoking signals than those with a slow nicotine metabolism. Earlier research establishes that greater reactivity to smoking signals anticipates decreased ability to quit smoking and environmental cues encourage greater nicotine intake in humans as well as animals.

As seen in other studies, tobacco use is still one of the leading causes of preventable death and disease in the United States. This new discovery that nicotine metabolism rates impact the brain's response to smoking can potentially lead the way for customized smoking abstinence programs based on genetics.

Smoking prompts such as the sight of smoking, or a cigarette, are linked to cigarette use and relapse. Nicotine metabolism performed by a liver enzyme, can be fast or slow and affects the level of nicotine in the blood that travels to the brain. This particular study tested participants for their enzyme genotype and their nicotine metabolism rates.

Smokers aged 18 to 35 who consumed 5 to 25 cigarettes daily for at least two years were followed during the study. Brain response to smoking cues was examined by functional MRIs. Fast metabolizers had considerably higher responses to visual signals than slow metabolizers in areas of the brain associated with memory, motivation and reward.

Clinician-scientist Dr. Alain Dagher, lead investigator at The Neuro says,

Slow metabolizers, on the other hand, have constant nicotine levels in the blood throughout the day and are less inclined to develop conditioned responses to signals. For these users, smoking is not linked with short nicotine surges, rather, it is used to maintain cognitive abilities such as attention span, memory, and stress relief. As seen in previous research, genetics play a role in the most successful way to treat smoking addiction.

Authors suggest future studies should focus on smoking abstinence programs designed for individuals. Measuring metabolism rates as a part of the decision making process for treatment may be effective. Patients with slow nicotine metabolism will most likely benefit from long-acting cholinergic drugs such as the nicotine patch, while those with fast nicotine metabolism will benefit from craving-induced therapy such as non-nicotine based buproprion, an anti depressant used to stop smoking.

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Genetics Predict Smoking Addictions

Washington, D.C. - infoZine -Researchers have demonstrated that a refined gene therapy approach safely restores the immune systems of some children with severe combined immunodeficiency (SCID). The rare condition blocks the normal development of a newborn's immune system, leaving the child susceptible to every passing microbe. Children with SCID experience chronic infections, which usually triggers the diagnosis. Their lifespan is two years if doctors cannot restore their immunity.

The findings from facilities including the National Institutes of Health, the University of California, Los Angeles (UCLA), and the Children's Hospital Los Angeles, are reported in the Sept. 11, 2012, advanced online issue of the journal Blood, the official journal of the American Society of Hematology.

In the 11-year study, the researchers tested a combination of techniques for gene therapy, arriving at one that produced normal levels of immune function for three patients.

"Doctors who treat patients with SCID have had limited treatment options for too long," said Dan Kastner, M.D., Ph.D., scientific director of the National Human Genome Research Institute (NHGRI), part of the NIH. "The research teams and the patients who have participated in the studies have together achieved an impressive advance toward a cure that is welcome news for both the scientific and patient communities."

Gene therapy is an experimental method for treating patients with genetic diseases. It is intended to integrate functioning genes among those naturally existing in the cells of the body to make up for faulty genes. Researchers in the current study tested a set of methods to improve outcomes for children with a particular form of SCID.

"This is a highly rewarding study for those of us in the clinic and lab," said Fabio Candotti, M.D., a senior author and a senior investigator in NHGRI's Genetics and Molecular Biology Branch. "Not only have we realized an important advancement in gene therapy, but we have seen a renewal of health in our patients."

While rare, SCID became widely known because of the remarkable boy-in-the-bubble story of the 1970s. The story was based in part on a boy named David Vetter, who lived for 13 years in a plastic isolation unit to protect him from infections. He died following an unsuccessful bone marrow transplant that doctors had hoped would repair his immune system.

SCID has many causes. In one type, a gene that produces the adenosine deaminase (ADA) enzyme becomes mutated and fails to produce the normal enzyme. Without ADA, a chemically altered form of adenosine, one of DNA's building blocks, accumulates in rapidly dividing bone marrow cells, killing them and destroying the immune system in the process. Normal bone marrow makes healthy white blood cells, or lymphocytes, which are the key players in the immune response that reacts against harmful bacteria and destroys cells infected by viruses. ADA deficiency accounts for some 15 percent of SCID cases.

If there is a sibling available whose blood is compatible with the patient's blood, doctors can perform a bone marrow transplant. If not, a form of the enzyme has to be administered by injection regularly to maintain the child's immune system.

Researchers seek to cure the disease by inserting a healthy copy of the ADA gene into continuously dividing bone marrow cells called stem cells. Bone marrow stem cells give rise to all other blood cells, including oxygen-carrying red cells and the white cells of the immune system. The healthy ADA gene would then produce enough enzyme to prevent immune-destroying toxicity.

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Restoring Children's Immune Systems with Refinements in Gene Therapy

LOS ANGELES UCLA stem cell researchers have found that a gene therapy regimen can safely restore immune systems to children with so-called "bubble boy" disease, a life-threatening condition that if left untreated can be fatal within one to two years.

In the 11-year study, researchers were able to test two therapy regimens for 10 children with ADA-deficient severe combined immunodeficiency (SCID), which has come to be known as "bubble boy" disease because some of its victims have been forced to live in sterile environments.

During that time, the researchers refined their approach to include a light dose of chemotherapy to help remove many of the blood stem cells in the bone marrow that were not creating the enzyme adenosine deaminase (ADA), which is critical for the production and survival of healthy white blood cells, said study senior Dr. Donald Kohn, a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.

The refined gene therapy and chemotherapy regimen proved superior to the other method tested in the study, restoring immune function to three of the six children who received it, said Kohn, who is also a professor of pediatrics and of microbiology, immunology and molecular genetics in UCLA Life Sciences Division. An even further-refined regimen using a different type of virus delivery system will be studied in the next phase of the study, which already has enrolled eight of the 10 patients needed.

The study appears today (Sept. 11) in the advance online issue of the peer-reviewed journal Blood.

"We were very happy that in the human trials we were able to see a benefit in the patients after we modified the protocol," Kohn said. "Doctors treating ADA-deficient SCID have had too few options for too long, and we hope this will provide them with an efficient and effective treatment for this devastating disease."

Children born with SCID, an inherited immunodeficiency, are generally diagnosed at about 6 months old. They are extremely vulnerable to infectious diseases and don't grow well. Chronic diarrhea, ear infections, recurrent pneumonia and profuse oral candidiasis commonly occur in these children. SCID occurs in about one of every 100,000 births.

Currently, the only treatment for ADA-deficient SCID calls for injecting patients twice a week with the necessary enzyme, Kohn said, a lifelong process that is very expensive and often doesn't return the immune system to optimal levels. These patients also can undergo bone marrow transplants from matched siblings, but matches can be very rare.

About 15 percent of all SCID patients are ADA-deficient. Kohn and his team used a virus delivery system that he had developed in his lab in the 1990s to restore the gene that produces the missing enzyme necessary for a healthy immune system. To date, about 40 children with SCID have received gene therapy in clinical trials around the world, Kohn said.

Two slightly different viral vectors were tested in the study, each modified to deliver healthy ADA genes into the bone marrow cells of the patients so the needed enzyme could be produced and make up for the cells that don't have the gene. Four of the 10 patients in the study remained on their enzyme replacement therapy during the gene therapy study. There were no side effects, but their immune systems were not sufficiently restored, Kohn said.

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'Bubble babies' immune systems restored

ScienceDaily (Sep. 11, 2012) In a recent study, investigators at Boston University Schools of Medicine (BUSM) and Public Health (BUSPH) identified a gene linking age-related cataracts and Alzheimer's disease. The findings, published online in PLoS ONE, contribute to the growing body of evidence showing that these two diseases, both associated with increasing age, may share common etiologic factors.

Gyungah Jun, PhD, from the departments of medicine, ophthalmology and biostatistics at BUSM and BUSPH, served as the study's lead author. Lindsay A. Farrer, PhD, professor of medicine, neurology, ophthalmology, genetics & genomics, epidemiology and biostatistics and chief of the Biomedical Genetics Section at BUSM, was the study's senior author.

Using the Framingham Offspring Eye Study cohort, investigators looked at brain MRI findings on or after 10 years from the original eye exam and concluded that there was a significant correlation between a quantitative measure of cortical cataract and several Alzheimer's disease-related measures of brain degeneration, in particular volume of the temporal horn which is a brain structure that is progressively enlarged in patients with Alzheimer's disease. Another strong correlation in these same individuals, between cortical cataract formation and poorer performance on several cognitive tests administered at the time of the MRI scan, further supports this link.

With such a link not confounded by age or sex, the investigators then performed a genome-wide association study looking at nearly 190,000 single-nucleotide polymorphisms (SNPs), or DNA sequence variations. Three intronic (non-coding) SNPs in the gene encoding -catenin came to the fore. This protein is a key component in cell adherence and formation of cell junctional structures. Previously, -catenin was also implicated in brain and eye development, but not directly in either cataracts or Alzheimer's disease. To establish a more direct link of -catenin to Alzheimer's disease, the researchers transfected into neuronal cells -catenin bearing a mutation near the location of the top-associated SNPs and observed a significant and specific increase in the toxic form of amyloid , the protein that aggregates in Alzheimer brains and thought to be central to development of the disorder. In addition, the researchers found increased deposits of -catenin in lens tissue obtained from autopsy-confirmed Alzheimer's cases but not from subjects lacking Alzheimer's-associated neuropathology.

"Though much work remains to be done, a link between cataracts and Alzheimer's disease supports the idea of a systemic rather than brain-limited focus for processes leading to Alzheimer's disease," said Farrer. "This study gives hope that we are moving toward earlier diagnosis and new treatment targets for this debilitating disease."

Juliet Moncaster, PhD, from the department of psychiatry; Sudha Seshadri, MD from department of neurology and associate professor of the Framingham Heart Study; Jacqueline Buros, BS, from the department of medicine; Ann C. McKee, MD, from the departments of neurology, pathology and laboratory medicine, the Boston University Alzheimer's Disease Center, and the Bedford Veterans Administration Hospital; and Phillip A. Wolf, MD, of the departments of neurology, epidemiology and professor of the Framingham Heart Study of BUSM and BUSPH, contributed to this paper. Researchers from the University of Toronto, the Bedford Veterans Administration Hospital, the Universit Laval and the University of Cambridge also collaborated on this study.

This study was supported by grants from the National Institute on Aging for investigated-initiated projects (R01-AG025259, R01-AG33193, R01-AG081220, R01-AG16495, and R01-AG033040) and the Boston University Alzheimer Disease Center (P30-AG13846), National Institute of General Medical Science (R01-GM75986), Wellcome Trust, Medical Research Council, Canadian Institutes of Health Research, Alzheimer Society of Ontario, and Ontario Research Fund.

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Gene linking cataracts and Alzheimer's disease identified

NEW YORK (GenomeWeb News) Illumina and Partners HealthCare today announced a deal offering medical geneticists and pathologists infrastructure and networking tools for interpreting and reporting genetic sequencing data.

The tools will integrate Illumina's MiSeq desktop sequencing platform with Partners' GeneInsight Suite, an IT platform for analyzing and reporting complex genetic test results, which is registered with the US Food and Drug Administration as a Class I exempt medical device. According to Illumina and Partner, the solution "creates a seamless workflow, starting on the MiSeq and delivering results directly into the GeneInsight tool."

The partnership, the companies said in a statement, "enable[s] a comprehensive sequencing and clinically relevant reporting solution for the Illumina family of next-generation-based content sets." Illumina announced separately today the launch of five TruSight targeted sequencing content sets for autism, cancer, cardiomyopathy, and inherited disease, as well as an exome content set.

The new tools from the alliance with Partners will link to Illumina's BaseSpace cloud computing platform, the MyGenome app for the iPad, and a clinical lab's local laboratory information system.

The companies will release the combined MiSeq-GeneInsight solution to select pilot customers in the clinical testing space, including reference labs at leading academic institutions, molecular and genetic pathology labs which want to bring next-gen sequencing-based genetic testing in house, and commercial reference labs.

Illumina will also use the GeneInsight Lab application in its CLIA lab for clinical interpretation and reporting, they said.

Financial and other terms of the deal were not disclosed.

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Illumina, Partners HealthCare Form Alliance Targeting Genetic Sequencing Interpretation, Reporting

SAN DIEGO & BOSTON--(BUSINESS WIRE)--

Illumina, Inc. (ILMN) and Partners HealthCare today announced a strategic alliance to offer medical geneticists and pathologists infrastructure and networking tools to support the interpretation and reporting process for genetic sequencing data. The tools will integrate the functionality of Illuminas MiSeq sequencing system and Partners GeneInsight Suite, an IT platform that streamlines the analysis, interpretation, and reporting of complex genetic test results. The GeneInsight Suite is registered with the FDA as a Class I exempt medical device.

Through the alliance, Illumina and Partners HealthCare are leveraging their respective areas of expertise to jointly enable a comprehensive sequencing and clinically relevant reporting solution for the Illumina family of next-generation based content sets. The new tools will link to Illuminas BaseSpace cloud computing platform and the MyGenome app for iPad, as well as to a clinical labs local laboratory information system (LIS). The solution creates a seamless workflow, starting on the MiSeq and delivering results directly into the GeneInsight tool, allowing laboratory personnel to interpret data accurately and with confidence.

Illumina and Partners HealthCare share a vision of better patient care through genomics, said Matt Posard, Senior Vice President and General Manager of Illuminas Translational and Consumer Genomics business. This alliance highlights our commitment to a collaborative model that will establish the new standard in NGS clinical-based applications and enable a truly integrated, high-quality solution.

Illumina and Partners HealthCare will initially release the combined MiSeq-GeneInsight solution to a limited number of pilot customers in the clinical testing space. These pilot sites will include a select group of reference laboratories within leading academic institutions, molecular and genetic pathology laboratories looking to bring next-generation-based genetic testing in-house, and commercial reference laboratories. Additionally, Illumina will use the GeneInsight Lab application in its CLIA-certified sequencing laboratory to support clinical interpretation and reporting.

GeneInsight software has supported the interpretation and reporting workflow for more than 24,000 complex genetic tests across multiple diagnostic reference laboratories, including Partners HealthCare Laboratory for Molecular Medicine, where the software has supported complex genetic tests since 2005.

We expect the collaboration between our organizations to yield significant benefits to our patients, and to patients worldwide, said Anne Klibanski, M.D., Chief Academic Officer, Partners HealthCare. Were excited about this extraordinary opportunity to work together to improve patient care and equally pleased that Illumina is committed to developing solutions that continue to advance our understanding of human genetics and disease.

Today, Illumina also announced the launch of TruSight content sets for targeted sequencing, designed for use in next-generation sequencing. The combination of the content sets and new interpretation and reporting tools is a major step forward in realizing the benefits of next generation sequencing. Illumina remains on track to submit the MiSeq system to the U.S. Food and Drug Administration (FDA) for 510(k) clearance before year end.

About Illumina

Illumina (www.illumina.com) is a leading developer, manufacturer, and marketer of life science tools and integrated systems for the analysis of genetic variation and function. We provide innovative sequencing and array-based solutions for genotyping, copy number variation analysis, methylation studies, gene expression profiling, and low-multiplex analysis of DNA, RNA, and protein. We also provide tools and services that are fueling advances in consumer genomics and diagnostics. Our technology and products accelerate genetic analysis research and its application, paving the way for molecular medicine and ultimately transforming healthcare.

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Illumina and Partners HealthCare Announce Alliance to Introduce Next-Generation Sequencing Clinical Interpretation and ...

Newswise African-Americans dont get kidney stones as frequently as Caucasians.

Are they protected genetically? If so, identifying the genetic factors that retard kidney stone formation could lead to new ways to treat or even prevent this painful condition, according to Vanderbilt University researcher Todd Edwards, Ph.D.

Kidney stones afflict one of every 11 Americans and cost the country more than $2 billion annually. Avoiding them could really make a difference for a lot of people, and could cut health costs dramatically, he said.

Until recently, teasing out complicated kidney stone genetics would have required years of study, tens of thousands of patients and hundreds of millions of dollars. Now thanks to BioVU, Vanderbilts massive DNA databank, the mother lode is within reach.

This month BioVU logged in its 150,000th unique genetic sample. It is now the worlds largest collection of human DNA linked to searchable, electronic health information, said Dan Roden, M.D., assistant vice chancellor for Personalized Medicine at Vanderbilt and BioVUs principal investigator.

BioVU began collecting DNA in 2007. Discarded blood specimens from Vanderbilt patients are sent to the DNA Resources Core, where the genetic material is extracted and stored. If patients check a box on a consent form, their leftover blood will not be used, but few choose to opt out.

The DNA samples are bar-coded and, along with their matching electronic health records, scrubbed of information that could identify individual patients.

The resulting genetic gold mine enables Vanderbilt researchers to quickly pull and analyze the DNA of hundreds of people with particular health conditions or responses to medication.

Before proceeding, BioVU investigators must be approved by Vanderbilts Institutional Review Board, sign a data use agreement, and determine, with the help of a BioVU project manager, the feasibility of their idea. Their proposals are then considered by separate pre-review and full review committees consisting of Vanderbilt faculty members.

To date, more than 50 BioVU studies have been approved and are under way.

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Vanderbilt's BioVU Databank Now World's Largest Human DNA Repository Linked to Searchable, Electronic Health Information

SAN DIEGO--(BUSINESS WIRE)--

Illumina, Inc. (ILMN) today announced five initial TruSight content sets for use in next-generation sequencing (NGS) in laboratory settings. Designed by recognized experts at leading institutions, the content sets offer cost-effective, streamlined, targeted sequencing for specific genetic diseases or conditions. Customers can immediately leverage this content to develop their own tests, and in the first half of 2013 will have the additional capability to augment the sets with custom content.

These products, developed in conjunction with leading healthcare experts including Childrens Mercy Center for Pediatric Genomic Medicine, Kennedy Krieger Institute, The Institute of Cancer Research, London, and Partners HealthCare (see additional Illumina-Partners HealthCare news today), are designed to provide comprehensive evaluation of genes associated with the following:

The launch of these new NGS products is an exciting milestone for Illumina, said Jay Flatley, President and Chief Executive Officer for Illumina. We worked closely with the community to develop and introduce these first content sets, to ensure we are meeting the needs of laboratories and to enable results of high quality. Combining this content with already proven Illumina next-generation sequencing technology, via the MiSeq platform, will provide a powerful tool.

TruSight content sets are comprised of oligo probes that target specific genes and regions relevant to specific diseases or conditions. They are designed for use by laboratories in the development of their own unique targeted sequencing tests and will work on Illuminas MiSeq system. Additionally, new Nextera Enrichment kits and MiSeq kits will support lower sample throughput options.

We are very excited about the value of the new content and how accessible it will be to laboratories, said Dr. Stephen Kingsmore, Director, Childrens Mercy Center for Pediatric Genomic Medicine, in Kansas City, Mo. Deploying this expert content on Illuminas proven technology streamlines a labs operational efficiency and speed to results. Ultimately, we hope to improve patient care. Thats the true goal.

Added Matt Posard, Senior Vice President and General Manager of Illuminas Translational and Consumer Genomics business, Today, Illumina also announced a strategic alliance with Partners HealthCare to introduce next-generation sequencing clinical interpretation and reporting tools, via their GeneInsight Suite platform. The combination of TruSight products and these new interpretation and reporting tools is a major step forward in realizing the benefits of next generation sequencing.

TruSight content sets are for research use only and not intended for diagnostic use. The products are now available for order with shipment to begin in Q4 2012. For more information, visit http://www.illumina.com/TruSight.

About Illumina

Illumina (www.illumina.com) is a leading developer, manufacturer, and marketer of life science tools and integrated systems for the analysis of genetic variation and function. We provide innovative sequencing and array-based solutions for genotyping, copy number variation analysis, methylation studies, gene expression profiling, and low-multiplex analysis of DNA, RNA, and protein. We also provide tools and services that are fueling advances in consumer genomics and diagnostics. Our technology and products accelerate genetic analysis research and its application, paving the way for molecular medicine and ultimately transforming healthcare.

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Illumina Launches TruSightTM Targeted Sequencing Content Sets

Being told you have a genetic predisposition to alcoholism could make you feel you have less control over your drinking, a new study suggests.

The unique study adds to growing concern about the potential perils of direct-to-consumer genetic tests.

Psychologist Ilan Dar-Nimrod from the University of Sydney and colleagues report their findings in the journal Genetics in Medicine.

He says the latest findings show how genetic information has the power to change a person's emotional state, behaviour and attitudes.

"We have about 1,600 genetic tests available now," Dar-Nimrod tells the Australian Broadcasting Corporation. "We should have better knowledge about how to communicate these results in a manner that doesn't create harm."

He says for a few genetic-related diseases, having a particular gene means you will definitely get the disease, unless you die of other causes first.

But in 98 per cent of cases the gene only increases your risk of a condition and that risk may be very small or very uncertain.

Despite the lack of certainty around the impact of many disease-related genes, Dar-Nimrod says there is some evidence that people who test positive for them can become fatalistic and believe they will definitely develop the condition in question.

He says such "genetic determinism" is encouraged by media reports that imply a greater risk from such genes than there actually is.

Dar-Nimrod and colleagues set up the first randomized experiment to investigate the psychological and behavioural impact of receiving personalized genetic information of this kind.

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Home genetic testing for alcoholism carries perils

Public release date: 11-Sep-2012 [ | E-mail | Share ]

Contact: Anita Kar anita.kar@mcgill.ca 514-398-3376 McGill University

This press release is available in French.

Have you ever wondered why some people find it so much easier to stop smoking than others? New research shows that vulnerability to smoking addiction is shaped by our genes. A study from the Montreal Neurological Institute and Hospital - The Neuro, McGill University shows that people with genetically fast nicotine metabolism have a significantly greater brain response to smoking cues than those with slow nicotine metabolism. Previous research shows that greater reactivity to smoking cues predicts decreased success at smoking cessation and that environmental cues promote increased nicotine intake in animals and humans. This new finding that nicotine metabolism rates affect the brain's response to smoking may lead the way for tailoring smoking cessation programs based on individual genetics.

Smoking cues, such as the sight of cigarettes or smokers, affect smoking behavior and are linked to relapse and cigarette use. Nicotine metabolism, by a liver enzyme, also influences smoking behavior. Variations in the gene that codes for this enzyme determine slow or fast rates of metabolism and therefore, the level of nicotine in the blood that reaches the brain. In the study smokers were screened for their nicotine metabolism rates and their enzyme genotype. Participants were aged 18 35 and smoked 5-25 cigarettes daily for a minimum of 2 years. People with the slowest and fastest metabolism had their brain response to visual smoking cues measured using functional MRI. Fast metabolizers had significantly greater response to visual cigarette cues than slow metabolizers in brain areas linked to memory, motivation and reward, namely the amygdala, hippocampus, striatum, insula, and cingulate cortex.

"The finding that nicotine metabolism rate has an impact on the brain's response to smoking cues supports our hypothesis that individuals with fast nicotine metabolism rates would have a greater brain response to smoking cues because of close coupling in everyday life between exposure to cigarettes and surges in blood nicotine concentration. In other words they learn to associate cigarette smoking with the nicotine surge," says clinician-scientist Dr. Alain Dagher, lead investigator at The Neuro. "In contrast, individuals with slow metabolism rates, who have relatively constant nicotine blood levels throughout the day, are less likely to develop conditioned responses to cues. For them, smoking is not associated with brief nicotine surges, so they are smoking for other reasons. Possibilities include maintenance of constant brain nicotine levels for cognitive enhancement (ie, improved attention, memory), or relief of stress or anxiety. "

Future research could focus on improving smoking cessation methods by tailoring treatments for different types of smokers. One possibility is to measure the rate of nicotine metabolism as part of the therapeutic decision-making process. For example, targeting cue-induced relapse risk may not help those with slow nicotine metabolism, who are more likely to benefit from long-acting cholinergic drugs such as the nicotine patch, consistent with previous clinical trials. Conversely the use of non-nicotine based therapies aimed at reducing craving may help fast metabolizers, as demonstrated for buproprion, an anti-depressant that has been used for smoking cessation.

###

This research was supported by the Canadian Tobacco Control Research Initiative (AD), Fonds de Recherche en Sant du Qubec (AD), and the Canadian Institutes of Health Research.

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How genetics shape our addictions