Archive for the ‘Gene Therapy Research’ Category

CAMBRIDGE, Mass., Feb. 16, 2012 (GLOBE NEWSWIRE) -- Pathfinder Cell Therapy, Inc. ("Pathfinder," or "the Company") (OTCQB:PFND.PK - News), a biotechnology company focused on the treatment of diseases characterized by organ-specific cell damage, today announced that Richard L. Franklin, M.D., Ph.D., Founder, CEO and President of Pathfinder, will present at the 7th Annual New York Stem Cell Summit being held on Tuesday, February 21, 2012.

Event: 7th Annual New York Stem Cell Summit
Date: Tuesday, February 21, 2012
Place: Bridgewaters New York, 11 Fulton Street, New York, NY
Time: 3:35 pm ET

Dr. Franklin will be providing an overview of the Company's novel Pathfinder Cell therapy.

The New York Stem Cell Summit brings together stem cell company executives, researchers, investors and physicians to explore investment opportunities in stem cell research and innovation. More information can be found at http://www.stemcellsummit.com.

About Pathfinder

Pathfinder is developing a novel cell-based therapy and has generated encouraging preclinical data in models of diabetes, renal disease, myocardial infarction, and critical limb ischemia, a severe form of peripheral vascular disease. Leveraging its internal discovery of Pathfinder Cells ("PCs") Pathfinder is pioneering a new field in regenerative medicine.

PCs are a newly identified mammalian cell type present in very low quantities in a variety of organs, including the kidney, liver, pancreas, lymph nodes, myometrium, bone marrow and blood. Early studies indicate that PCs stimulate regeneration of damaged tissues without the cells themselves being incorporated into the newly generated tissue. Based on testing to date, the cells appear to be "immune privileged," and their effects appear to be independent of the tissue source of PCs. For more information please visit: http://www.pathfindercelltherapy.com.

FORWARD LOOKING STATEMENTS

This press release contains forward-looking statements. You should be aware that our actual results could differ materially from those contained in the forward-looking statements, which are based on management's current expectations and are subject to a number of risks and uncertainties, including, but not limited to, our inability to obtain additional required financing; costs and delays in the development and/or FDA approval, or the failure to obtain such approval, of our product candidates; uncertainties or differences in interpretation in clinical trial results, if any; our inability to maintain or enter into, and the risks resulting from our dependence upon, collaboration or contractual arrangements necessary for the development, manufacture, commercialization, marketing, sales and distribution of any products; competitive factors; our inability to protect our patents or proprietary rights and obtain necessary rights to third party patents and intellectual property to operate our business; our inability to operate our business without infringing the patents and proprietary rights of others; general economic conditions; the failure of any products to gain market acceptance; technological changes; and government regulation. We do not intend to update any of these factors or to publicly announce the results of any revisions to these forward-looking statements.

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Pathfinder to Present at New York Stem Cell Summit

Thursday, February 16, 2012

By Rodney Brown

Bluebird bio, a Cambridge gene-therapy company, has named Genzyme veteran Dr. David M. Davidson as the company’s new chief medical officer, according to a release.

Most recently, Davidson was the medical leader for Genzyme Corp.’s gene therapy and Pompe disease enzyme replacement therapy programs, and held the title of senior medical director. He has also worked on a number of commercial products, including Fabrazyme and Myozyme/Lumizyme, and was integral in crafting the new drug application that resulted in the approval of Welchol, the release noted.

Prior to Genzyme, Davidson was a medical director at GelTex Pharmaceuticals. Previously, he completed clinical and research fellowships in infectious diseases at the Harvard Longwood Combined Infectious Diseases Program.

Davidson holds a bachelor’s degree from Columbia University and an M.D. from New York University School of Medicine. In addition, he completed an internal medicine internship, residency training and an endocrinology research fellowship at the University of Chicago Hospitals.

Nick Leschly, CEO of bluebird bio, said in a statement that Davidson’s “deep gene therapy and translational medicine experience will help guide bluebird bio’s clinical development efforts and regulatory strategies.”

Last April, bluebird bio took in $15 million from its announced $30 million financing round, and amended a previous financing. The company was previously known as Genetix Pharmaceuticals Inc.

One month prior, bluebird bio entered into a deal, worth up to $4.2 million, with the French Muscular Dystrophy Association, focused on the development of LentiGlobin, a treatment intended for beta-thalassemia and sickle cell anemia.

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Bluebird bio names Genzyme’s Davidson as chief medical officer

DALLAS, Feb. 16, 2012 /PRNewswire/ -- Next week at the prestigious International Solid State Technology Conference (ISSCC) in San Francisco, Texas Instruments Incorporated (TI) (NASDAQ: TXN - News) is presenting several papers and participating in presentations to outline accomplishments and opportunities in areas of low power, energy management and improved energy efficiency.

"Across our innovative semiconductor product portfolio, TI is solving challenges related to low power and energy efficiency," said Gene Frantz, Principal Fellow at TI and creator of "Gene's Law" which states the power efficiency of integrated circuits (ICs) doubles every 18 months. "Applications like cloud computing, medical and consumer electronics will continue to require creative solutions for energy conversion, improved signal path functionality and energy transmission. At ISSCC, many of TI's brightest minds will outline ways the company is addressing these issues."

TI has driven advancements in low power for more than 20 years, starting with the company's early focus on battery life requirements for calculators, and continuing today based on demand for low power, energy efficient solutions for advanced smartphones and many other devices.

TI is transforming power through energy management innovation in areas such as energy generation, conversion, distribution and control of energy demand and resources. The company's dedicated energy lab is the focal point for intelligent energy conversion and management systems for accessible and cost-effective power delivery.

Projects in the labs have evaluated energy harvesting technology and energy conversion from solar to electricity, as well as bringing in new semiconductor materials technologies to achieve higher power densities, voltages and efficiency levels that will be needed in the future. Other research and development teams throughout TI's businesses also contribute to TI's commitment to meet customer needs. TI's work includes partnerships with universities and consortia to explore and incubate new ideas.   

TI's ISSCC papers or presentations on low power and energy efficiency advancements include:   

Sunday, 2/19: Session F2 at 4:35 p.m. – Dave Freeman, TI Fellow, will present how voltage regulator circuits and energy management supports sustainability for solid state circuit supported markets, using "the Cloud" as the example. As the Cloud grows, and businesses and consumers become more dependent upon it, power needs will limit sustainability. Dave will discuss the role of power and energy management in three power domains as the keys toward sustainable Cloud growth. Monday, 2/20: Session 5.8 at 4:45 p.m. – TI's Karthik Kardivel will present a 330 nanoamp (nA) energy harvesting charger with battery management for solar and thermoelectric electric energy harvesting.  The charger and battery management IC, called the bq25504, is designed to extract and store energy in rechargeable batteries or super capacitors for use in personal electronics. Tuesday, 2/21: Session 8.7 at 11:45 a.m. – TI's Venkatesh Srinivasan will describe a wide bandwidth and power-efficient continuous time (CT) sigma delta analog-to-digital converter (ADC) for signal chain applications, including communications or ultrasonic imaging systems. It is the highest clocked CT ADC published to date, running at 6 gigahertz (GHz) with a very competitive area and power for bandwidth and dynamic range.  Tuesday, 2/21: Session 12.7 at 4:45 p.m. – Mahesh Mehendale, TI Fellow, will present a multi-standard, programmable, low-power, full HD video codec engine, used in TI's OMAP4 and OMAP5 system-on-chip (SoC) processors for mobile devices. This engine delivers the highest video quality and lower bit rate output, while offering the most extensive support for video codecs and profiles. Because its capabilities are integrated as part of the SoC, greater efficiencies are achieved over alternative approaches that run capabilities on a separate software programmable processor.  Tuesday, 2/21: Evening Panel at 8:00 p.m. – Ajith Amerasekera, TI Fellow and director of Kilby Labs, will participate in a panel discussion titled, "What is the next RF frontier." Discussions will include trends in low power RF and technology direction to improve applications such as home automation and lighting, smart metering, alarm and security and more. Thursday, 2/23: Session F5 at 9:40 a.m. – In an invited talk, Gene Frantz will address electronic system challenges for healthcare and advancements in low power and energy efficiency that will continue to transform healthcare and deliver a healthcare revolution. 

For more information about TI's focus in energy management and efficiency:

About innovation at TI
Innovation is the technology thread that runs throughout TI's 80+ year history. Today, TI is driving game-changing technology roadmaps and products in the areas of ultra-low power processing and signal conditioning, energy management, cloud computing, safety and security, medical and more. In collaboration with our customers, industry consortia and universities, TI develops differentiated products that improve how we live, work and play, today and well into the future. Learn more at http://www.ti.com/innovation.

About TI
Texas Instruments semiconductor innovations help 90,000 customers unlock the possibilities of the world as it could be – smarter, safer, greener, healthier and more fun. Our commitment to building a better future is ingrained in everything we do – from the responsible manufacturing of our semiconductors, to caring for our employees, to giving back inside our communities. This is just the beginning of our story. Learn more at http://www.ti.com.

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Texas Instruments' research advancements build upon leadership in low power, energy efficiency and greener designs to ...

Public release date: 16-Feb-2012
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Contact: Don Powell
press.office@sanger.ac.uk
44-012-234-96928
Wellcome Trust Sanger Institute

A high-quality reference catalogue of the genetic changes that result in the deactivation of human genes has been developed by a team of researchers. This catalogue of loss-of-function (LoF) variants is needed to find new disease-causing mutations and will help us to better understand the normal function of human genes. In addition, the researchers report that each of us is carrying around 20 genes that have been completely inactivated.

The team refined previous estimations of possible LoF variants by excluding more than half. They accomplished this by identifying errors and real variants that did not seem to affect gene function and eliminating them from the list. They also developed a method of determining whether or not a newly-identified variant could be a likely cause of disease.

Loss of function variants are genetic changes that are predicted to severely disrupt the function of genes. They are known to cause severe human diseases such as muscular dystrophy and cystic fibrosis. Previous genome sequencing projects have suggested that hundreds of these variants are present in the DNA of even perfectly healthy individuals, but could not tell exactly how many.

"The key questions we focused on for this study were: how many of these LoF variants were real and how large a role might they play in human disease?" explains Dr Daniel MacArthur, first author from the Wellcome Trust Sanger Institute. "We looked at nearly 3000 putative LoF variants in the genomes of 185 people from Europe, East Asia and West Africa who were participants of the 1000 Genomes Project."

Working as part of the 1000 Genomes Project, the team developed a series of filters to identify common errors. The filters revealed that 56% of the 3000 LoFs were unlikely to seriously affect gene function. But of the true LoF variants, 100 are typically found in the genome of each European and 20 affect both copies of the gene, and are thus predicted to result in complete loss of gene function.

"We identified 253 genes that can be completely inactivated in one or more participant. This shows that at least 1% of human genes can be shut down without causing serious disease", explains Professor Mark Gerstein, co-author from Yale University. "We were able to use the differences between such "LoF-tolerant" genes and known human disease genes to develop a way of predicting whether or not a newly-discovered change in a gene is likely to be severely disease-causing."

The team found some of these LoFs are quite common and are unlikely to have a significant effect on health. For instance, some can affect the way in which we detect smells or how sensitive we are to sour taste. However, they found that the majority of the LoF variants are rare, with half of them being seen only once in the 185 people. This suggests that most of these variants can be quite harmful.

"Our research will be beneficial for current DNA sequencing studies underway in disease patients," says Dr Chris Tyler-Smith, lead author from the Wellcome Trust Sanger Institute. "In addition, we provide a list of over 1000 loss-of-function variants, and in most cases little or nothing is known about how these genes work or what they do. By studying the people carrying them in detail, we should get new insights into the function of many poorly-known human genes"

The team's long term goal is to study the potential effects all LoF variants have on humans. They will do this by looking at them in people with different diseases, as well as healthy people who have been measured for many different traits.

###

Notes to Editors

Publication Details
McArthur et al 'A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes'
Published in Science on 17 February

Funding

Supported by Wellcome Trust, the Australian National Health and Medical Research Council, the Swiss National Science Foundation, the Louis Jeantet Foundation, and the NIH?National Institute of Mental the Netherlands Organisation for Scientific Research, National Basic Research Program of China, the National Natural Science Foundation of China, the Chinese 863 program, the Shenzhen Municipal Government of China.

Participating Centres

List of participating centres found in paper

Selected Websites

The Wellcome Trust Sanger Institute is one of the world's leading genome centres. Through its ability to conduct research at scale, it is able to engage in bold and long-term exploratory projects that are designed to influence and empower medical science globally. Institute research findings, generated through its own research programmes and through its leading role in international consortia, are being used to develop new diagnostics and treatments for human disease. http://www.sanger.ac.uk

The Wellcome Trust is a global charitable foundation dedicated to achieving extraordinary improvements in human and animal health. We support the brightest minds in biomedical research and the medical humanities. Our breadth of support includes public engagement, education and the application of research to improve health. We are independent of both political and commercial interests. http://www.wellcome.ac.uk

Contact details

Don Powell Media Manager
Wellcome Trust Sanger Institute
Hinxton, Cambridge, CB10 1SA, UK
Tel 44-1223-496-928
Mobile 44-7753-7753-97
Email press.office@sanger.ac.uk

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When is a gene not a gene?

CINCINNATI--(BUSINESS WIRE)--

Bioline, The PCR Company, a wholly-owned subsidiary of Meridian Bioscience, Inc. (NASDAQ:VIVO - News), is proud to announce the latest addition to its SensiFAST family real-time PCR products.

SensiFAST HRM Kit facilitates High Resolution Melt (HRM) curve analysis, enabling amplification and discrimination of even the most challenging sequence differences (such as class 4 SNPs) without sequence preference. SensiFAST HRM is designed to deliver fast, accurate detection of gene mutations and SNPs and provides reliable and highly reproducible data on all commonly used real-time PCR instruments, especially the new generation of fast-cyclers. Since SensiFAST HRM does not require expensive labeled oligonucleotide probes, it is a cost-effective alternative to traditional probe based genotyping methods.

Marco Calzavara, President of Bioline commented, "I am delighted to announce the release of SensiFAST HRM as a new member of our real-time PCR-based SensiFAST family. This new kit will enable researchers to cost-effectively scan DNA from a variety of biological sample types to detect the smallest genetic variations among samples.”

Richard L. Eberly, Chief Commercial Officer of Meridian Bioscience, Inc., stated, “The release of SensiFAST HRM Kit is part of a new generation of products to advance the rapidly expanding portfolio of highly specialized molecular biology reagents from Bioline. We remain committed to our life science customers to bring innovation and quality products to the research lab, clinical diagnostic laboratories, and biotechnology companies.”

ABOUT MERIDIAN BIOSCIENCE, INC.

Meridian is a fully integrated life science company that manufactures, markets and distributes a broad range of innovative diagnostic test kits, purified reagents and related products and offers biopharmaceutical enabling technologies. Utilizing a variety of methods, these products and diagnostic tests provide accuracy, simplicity and speed in the early diagnosis and treatment of common medical conditions, such as gastrointestinal, viral and respiratory infections. Meridian’s diagnostic products are used outside of the human body and require little or no special equipment. The Company's products are designed to enhance patient well-being while reducing the total outcome costs of healthcare. Meridian has strong market positions in the areas of gastrointestinal and upper respiratory infections, serology, parasitology and fungal disease diagnosis. In addition, Meridian is a supplier of rare reagents, specialty biologicals and related technologies used by biopharmaceutical companies engaged in research for new drugs and vaccines. The Company markets its products and technologies to hospitals, reference laboratories, research centers, veterinary testing centers, diagnostics manufacturers and biotech companies in more than 60 countries around the world. The Company’s shares are traded through NASDAQ’s Global Select Market, symbol VIVO. Meridian's website address is http://www.meridianbioscience.com.

ADDITIONAL INFORMATION

For more information about Bioline, please visit http://www.bioline.com
For more information about Meridian Life Science, Inc., please visit http://www.meridianlifescience.com
For more information about Meridian Bioscience, Inc., please visit http://www.meridianbioscience.com

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Bioline Introduces New SensiFAST™ HRM Kit for Gene Mutations and SNP Analysis

Anne Wojcicki, aka Sergey Brin's wife, told us in an interview she is gathering a marketing team for her gene startup.

23andMe asks people to send in spit samples in a tube to build a crowdsourced gene database.

The company has not had a marketing campaign to increase enrollment in the past because genetic testing can be “kind of controversial,” Wojcicki explained, adding that the company "is better established now and people are more comfortable with the idea of testing their DNA.”

In December, 23andme launched its first holiday twitter campaign advertising 23 reasons why genetics testing gift would make a good buy. Besides looking for a marketing team, the company has snagged geneticscreening.com domain, which now redirects to 23andMe.com, for $2200.

23andme hopes to partner with more pharmaceutical companies in the future on phase I and phase II trials, which could lead to actual profit. Before then 23andme needs to bulk up its DNA database. As of October, the company has officially had 125,000 subscribers (including Rupert Murdoch!).

The company leverages its database containing the results of all the DNA tests to collaborate with pharmaceutical companies on number of research projects focusing on Sarcoma, Myeloproliferative Neoplasms and Alzheimer’s.

Wojcicki, who worked on Wall Street for 10 years and has a background in healthcare investing focused primarily on biotechnological companies, says that the current health care system is "not monetizing staying healthy." Hence, in 2006, Linda Avey and Wojcicki founded 23andMe to get individuals to share information and data about themselves and help initiate preventative measures.

Wojcicki might have had another motivation as well, considering that her mother in law, Sergey Brin's mom, was previously diagnosed with Parkinson's disease. The condition is one of the main areas of focus for 23andMe and in October of last year, the company announced that it has identified a gene that could reduce the risk of Parkinson's disease.

Since 2006, the company has managed to raise $68 million in funds, according to Catherine Afarian, 23andMe's spokesperson. In future, the company will look for strategic investors who will need to bring more to the table besides just funds. Past investors include New Enterprise Associates, The Roche Venture Fund, Esther Dyson and Google Ventures. New investors to join in the Series C financing, which was handled internally and raised $31 million, were MPM Capital and Johnson & Johnson Development Corporation.

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Sergey Brin's Wife Is Hiring A Marketing Team For Her Gene Startup

Public release date: 16-Feb-2012
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Contact: Cathia Falvey
cfalvey@liebertpub.com
914-740-2100 x2165
Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY -- Millions of dollars and immeasurable hours of research and development are being invested to develop and employ increasingly sophisticated hardware and software technologies to deliver innovative new personalized health care interventions. Digital games are rapidly becoming an important tool for improving lifestyle habits, behavior modification, self-management of illness and chronic conditions, and motivating and supporting physical activity, according to a provocative Expert Panel Discussion in the premier issue of Games for Health Journal, a new bimonthly peer-reviewed publication from Mary Ann Liebert, Inc., publishers (http://www.liebertpub.com). The premier issue is available free online at http://www.liebertpub.com/g4h.

The Journal will be the only source for a broad range of hard-to-find and timely information related to health games. For example, the first issue offers a unique Roundtable Discussion, "Health Games Come of Age," an insightful conversation with leaders in the games for health field. Tom Baranowski, PhD, Baylor College of Medicine; Peter Bingham, MD, University of Vermont; Debra Lieberman, PhD, University of California, Santa Barbara; Ernie Medina, DrPH, Medplay Technologies; Jesse Schell, MS, Carnegie Mellon University; and Sam K. Yohannon, PT, MS, Cornell University Medical Center share their unique approaches and the creative evidenced-based outcomes research that has brought health games to the forefront of innovative patient care.

The Journal breaks new ground as the first to address this emerging and increasingly important area of health care and will provide a bimonthly forum in print and online for academic and clinical researchers, game designers and developers, health care providers, insurers, and information technology leaders. Articles in the Journal explore the use of game technology in a wide variety of clinical applications in disease prevention, promotion, and monitoring, including nutrition, weight management, medication adherence, diabetes monitoring, post-traumatic stress disorder, Alzheimer's, and cognitive, mental, emotional, and behavioral health.

The Journal is under the leadership of Bill Ferguson, PhD and a distinguished editorial board (http://www.liebertpub.com/editorialboard/games-for-health-journal/588/) including leaders from academia, health care, information technology, and government.

Other key contributions in this issue include an original article on "Use of Nintendo? Wii? During Physical Therapy of an Adult with Lower Extremity Burns" describing a fascinating intervention using health games to accelerate returning severe burn victims to independent living. "The United Health Group's Rx for Longer, Healthier Lives" is an informative program profile that examines the huge health provider's commitment to encouraging and enabling healthier lifestyles through games. Their goal is greater availability and lower cost of health care for people who actively manage their own health and well-being

A clinical brief on "Evaluating Efficacy and Validating Games for Health" suggests the importance and process for objectively assessing the results of games used to improve patients' health. A fascinating interview with Ben Sawyer, Co-Founder of Digitalmill?"Games? Seriously!"--explores the driving forces in the field and the gamification of health.

"The growing breadth and depth of research in health games will have powerful impacts on all stages of life, from infants with autism to geriatric patients wanting to extend their active lives," says Editor-in-Chief Bill Ferguson. "These advancements will impact the nature and availability of preventive and remedial care from physicians to therapists to self-management. The Journal will be a powerful voice for the researchers and clinicians, as well as a resource for state-of-the-art developments for everyone concerned with human well-being."

###

Mary Ann Liebert, Inc. (http://www.liebertpub.com) 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 Cyberpsychology, Behavior, and Social Networking and Telemedicine & e-Health. 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 at http://www.liebertpub.com.

Mary Ann Liebert, Inc.
140 Huguenot Street, 3rd Floor
New Rochelle, NY 10801-5215, USA

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Health games emerge as important new therapeutic tools for physical and mental health and well-being

Newswise — Understanding how RNA binding proteins control the genetic splicing code is fundamental to human biology and disease – much like editing film can change a movie scene. Abnormal variations in splicing are often implicated in cancer and genetic neurodegenerative disorders.

In a step toward deciphering the “splicing code” of the human genome, researchers at the University of California, San Diego School of Medicine have comprehensively analyzed six of the more highly expressed RNA binding proteins collectively known as heterogeneous nuclear ribonucleoparticle (hnRNP) proteins.

This study, published online Feb 16 in Cell Press’ new open-access journal Cell Reports, describes how multiple RNA binding proteins cooperatively control the diversity of proteins in human cells by regulating the alternative splicing of thousands of genes.

In the splicing process, fragments that do not typically code for protein, called introns, are removed from gene transcripts, and the remaining sequences, called exons, are reconnected. The proteins that bind to RNA are important for the control of the splicing process, and the location where they bind dictates which pieces of the RNA are included or excluded in the final gene transcript -- in much the same fashion that removing and inserting scenes, or splicing, can alter the plot of a movie.

“By integrating vast amounts of information about these key binding proteins, and making this data widely available, we hope to provide a foundation for building predictive models for splicing and future studies in other cell types such as embryonic stem cells,” said principal investigator Gene Yeo, PhD, assistant professor in the Department of Cellular and Molecular Medicine and the Institute for Genomic Medicine at UC San Diego, and a visiting professor at the Molecular Engineering Laboratory in Singapore. “If we can understand how these proteins work together and affect one another to regulate alternative splicing, it may offer important clues for rational drug design.”

The data sets highlighted in this study – derived from genome-wide methods including custom-designed splicing-sensitive microarrays, RNA sequencing and high-throughput sequencing to identify genome-wide binding sites (CLIP-seq) -- map the functional binding sites for six of the major hnRNP proteins in human cells.

“We identified thousands of binding sites and altered splicing events for these hnRNP proteins and discovered that, surprisingly these proteins bind and regulate each other and a whole network of other RNA binding proteins, suggesting that these proteins are important for the homeostasis of the cell,” said first author, NSF fellow Stephanie C. Huelga.

According to the UCSD researchers, the genes specifically targeted by the RNA binding proteins in this study are also often implicated in cancer. Yeo added that of the thousands of genomic mutations that appear in cancer, a vast majority occur in the introns that are removed during splicing; however, intronic regions are where regulatory hnRNP proteins often bind.

“Our findings show an unprecedented degree of complexity and compensatory relationships among hnRNP proteins and their splicing targets that likely confer robustness to cells. The orchestration of RNA binding proteins is not only important for the homeostasis of the cell, but – by mapping the location of binding sites and all the regulatory places in a gene – this study could reveal how disruption of the process leads to disease and, perhaps, a way to intervene.”

Additional contributors to the study include Anthony Q. Vu, Justin D. Arnold, Tiffany Y. Liang, Patrick P. Liu and Bernice Y. Yan, UCSD Cellular and Molecular Medicine; John Paul Donohue, Lily Shiue and Manuel Ares, Jr., UC Santa Cruz; Shawn Hoon and Sydney Brenner, A*STAR, Singapore.

The study was funded in part by grants from the National Institutes of Health and the UC San Diego Stem Cell Research Program.

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The Splice of Life: Proteins Cooperate to Regulate Gene Splicing

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

bluebird bio, a world leader in the development of innovative gene therapies for severe genetic disorders, today announced the appointment of David M. Davidson, M.D., to the role of chief medical officer.

“David brings a wealth of gene therapy, rare disease and clinical drug development expertise to bluebird bio during an exciting time in our company’s growth,” said Nick Leschly, chief executive officer of bluebird bio. “Operationally, David’s deep gene therapy and translational medicine experience will help guide bluebird bio’s clinical development efforts and regulatory strategies. With the addition of David to our team, we are well positioned to maximize the high priority opportunities available to us through our broad product platform.”

Prior to joining bluebird bio, Dr. Davidson served as a senior medical director at Genzyme Corporation where he led clinical research for programs in Phases 1 through 4 across a wide range of therapeutic areas for more than a decade. Most recently, Dr. Davidson was the medical leader for Genzyme’s gene therapy and Pompe disease enzyme replacement therapy programs. In addition to Dr. Davidson’s translational medicine experience, he has also worked on a number of commercial products, including Fabrazyme® and Myozyme®/Lumizyme®, and was integral in crafting the new drug application that resulted in the approval of Welchol®. Prior to Genzyme, Dr. Davidson was a medical director at GelTex Pharmaceuticals. Previously, he completed clinical and research fellowships in infectious diseases at the Harvard Longwood Combined Infectious Diseases Program. Dr. Davidson received a B.A. from Columbia University and his M.D. from New York University School of Medicine. In addition, he completed an internal medicine internship, residency training and an endocrinology research fellowship at the University of Chicago Hospitals.

“bluebird bio’s platform has the potential to be truly transformative,” said Dr. Davidson. “It is rare to be presented with an opportunity to develop a novel, clinically validated platform with promising early proof-of-concept data in two indications that can have such a dramatic effect across a broad set of severe genetic diseases. In the next two years, bluebird looks to have its ALD program well into a Phase 2/3 trial and two other programs nearing completion of Phase 1/2 trials for beta-thalassemia and sickle cell disease. I look forward to this exciting challenge and the potential to have a fundamental and meaningful impact on patients and their families.”

About bluebird bio

bluebird bio is developing innovative gene therapies for severe genetic disorders. At the heart of bluebird bio’s product creation efforts is its broadly applicable gene therapy platform for the development of novel treatments for diseases with few or no clinical options. The company’s novel approach uses stem cells harvested from the patient’s bone marrow into which a healthy version of the disease causing gene is inserted. bluebird bio’s approach represents a true paradigm shift in the treatment of severe genetic diseases by eliminating the potential complications associated with donor cell transplantation and presenting a one-time potentially transformative therapy. bluebird bio has two later stage clinical products in development for childhood cerebral adrenoleukodystrophy (CCALD) and beta-thalassemia/sickle cell anemia. Led by a world-class team, bluebird bio is privately held and backed by top-tier life sciences investors, including Third Rock Ventures, TVM Capital, ARCH Venture Partners, Forbion Capital Partners, Easton Capital and Genzyme Ventures. Its operations are located in Cambridge, Mass. and Paris, France. For more information, please visit http://www.bluebirdbio.com.

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bluebird bio Appoints David Davidson, M.D., as Chief Medical Officer

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The Massachusetts General Hospital is starting a major study aimed at guiding treatment of patients suffering from treatment-resistant major depressive disorder.

The study, which is using genetic biomarker data to compare standard treatment with assay-guided treatment in inpatient adults with treatment-resistant depression, will use Genomind's Genecept Assay. The technology combines a proprietary panel of genetic tests with an analytical report to clinicians.

The primary objective of the study is to improve depressive symptoms from baseline to six months, Genomind said. Other goals are to change clinician behavior and reduce costs.

Researchers will focus on pharmacogenetic genotyping of metabolic activity, which can then be used to guide treatment of patients with antidepressants. Also, genome-wide association study analysis will be performed in the future to identify biomarkers that may be predictive of patient response to and tolerance of certain therapeutics.

Recruitment of patients begins immediately.

Based in Chalfont, Penn., Genomind specializes in neuropsychiatric personalized medicine using genetic information.

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Mass Gen Begins Study on Depression Treatment Response Using Genetic Biomarker Data

Public release date: 16-Feb-2012
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Contact: Ellen de Graffenreid
edegraff@med.unc.edu
919-962-3405
University of North Carolina School of Medicine

A series of 15 scientific papers published this week in the journals of the Genetics Society of America (Genetics and G3: Genes|Genomes|Genetics) put North Carolina at the epicenter of a scientific resource called the Collaborative Cross ? a "library" of genetic diversity that scientists believe can help fast-track important discoveries about genetics and disease into new discoveries, tests, and treatments that impact human health.

Researchers have long been frustrated by promising lab results that hit obstacles on the road to human application. Sometimes this is because research in other living organisms is very limited in terms of what conclusions scientists can safely extrapolate to the human population as a whole. One reason for this problem is that organisms studied in the laboratory lack the genetic diversity of humans.

To overcome this obstacle, scientists have begun to create libraries of genetic material. These libraries ? called Genetic Resource Panels (GRPs) ? enable researchers to look at how genetic variation impacts living systems in a careful and systematic manner ? an approach that they think will help draw more robust conclusions, often more quickly.

The Collaborative Cross, a project aimed at mirroring the diversity of human genetics in the laboratory mouse population, is one such GRP. The Collaborative Cross contains ten times the genetic diversity of a typical laboratory mouse population ? a level equivalent to the natural genetic variation in humans. Furthermore, the genetic diversity is spread out across the genome of the Collaborative Cross, while the limited ancestry of typical laboratory mice means that about half of the genome lacks good data for geneticists. The Collaborative Cross fills in those gaps, and the result for scientists is a fast track to understanding and testing new treatment and prevention approaches for numerous human diseases with an underlying genetic component.

The project is led by Fernando Pardo-Manuel de Villena, PhD, in the UNC Department of Genetics and a member of UNC Lineberger Comprehensive Cancer Center, David Threadgill, PhD, a geneticist at North Carolina State University and UNC Lineberger member, and Gary Churchill, PhD, at The Jackson Laboratory. The mice are housed and 'curated' at UNC-Chapel Hill.

Pardo-Manuel de Villena is the lead author on the paper featured on the cover of Genetics, which provides the first comprehensive description of the mouse genome library, which is being shared with scientists across the country through an online resource called a genome browser.

He says, "It is important that all scientists have free access to this resource, which is a census of every genetic line we have and consolidates the work of researchers in the U.S., Israel and Australia in one central place."

The Collaborative Cross is a resource that is offered free to all scientists. The editors of Genetics and G3 note in an editorial accompanying the papers, "Data sharing is particularly crucial for GRPs like the Collaborative Cross. If some pieces of the puzzle have been taken off the board . . . then the puzzle is unlikely to be completed and the community resource is compromised."

This is a big responsibility, notes Terry Magnuson, PhD, Chair of Genetics at UNC-Chapel Hill and Vice Dean for Research at the UNC School of Medicine. "Just as a museum curator is responsible for the heritage of art in their facility, our colleagues at UNC and N.C. State University are responsible for the heritage of the mice in the Collaborative Cross. As scientists use this resource to find ways to prevent and address the genetic changes that cause disease, findings in laboratory experiments should be much easier to translate to humans."

Norman E. Sharpless, MD, UNC Lineberger's associate director for translational research, is collaborating with Charles Perou, PhD, co-director of the center's breast cancer research program, on studies of breast cancer using the Collaborative Cross. He says, "I expect that the results of this work will help human breast cancer patients. Huge consortia are successfully identifying regions of the genome associated with important human diseases like cancer and diabetes, but there are limitations in working with the human genome. The Collaborative Cross provides the best means to understand why certain genes are linked to certain diseases."

Pardo-Manuel de Villena notes that the Collaborative Cross would not be possible without the efforts of the collaborative cross consortium, a global group of scientists that includes National Institutes of Health Director Francis S. Collins, MD, PhD, and National Human Genome Research Institute scientist Samir Kelada, PhD, MPH.

###

The collaborative cross consortium includes scientists from the following institutions: Tel Aviv University; Geniad, Ltd., University of Western Australia, and Animal Resources Centre, Australia: Wellcome Trust Centre for Human Genetics, University of Oxford, University of North Carolina, Chapel Hill, North Carolina State University; The Jackson Laboratory; National Institutes of Health; Oregon Health and Science University; University of Arizona; University of Colorado Denver; University of Washington; Faculty of Dental Medicine, Hadassah Medical Centers and The Hebrew University, Jerusalem, University of Tennessee Health Science Center; Helmholtz Centre for Infection Research & University of Veterinary Medicine; Duke University; National Institute of Environmental Health Sciences, National Toxicology Program; University of Nebraska-Lincoln; University of Wisconsin-Madison; The Genome Institute at Washington University, St. Louis; and the University of Colorado School of Medicine.

The research was supported by grants from the National Institutes of Health; Ellison Medical Foundation; National Science Foundation; Australian Research Council; and the Wellcome Trust. Essential support was provided by the Dean of the UNC School of Medicine; UNC Lineberger Comprehensive Cancer Center and the University Cancer Research Fund from the state of North Carolina. Tel-Aviv University provided core funding and technical support.

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North Carolina-based genetic resources fuel big scientific progress

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The CISOs Guide to Measuring IT Security
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It's pretty easy for organizations to get so wrapped up about what goes out on USB drives that they forget to protect against what comes in their environments via USB. And with attacks inflicting increasingly greater damage following uncontrolled connection, it's time that organizations got serious about this threat. The key to USB security is balancing productivity with protection.

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Genetics Inspired Research Prevents Cyber Attacks

The study, published in the international science and medicine journal PLoS One, was led by Winthrop Professor Alan Harvey from UWA's School of Anatomy, Physiology and Human Biology, and Associate Professor Jennifer Rodger, NHMRC Research Fellow in Experimental and Regenerative Neurosciences at UWA's School of Animal Biology.  The research was funded primarily by the WA Neurotrauma Research Program.

Professor Harvey said gene therapy was a relatively new strategy that attempted to help injured brain cells survive and regrow.

"Our previous work has shown that when growth-promoting genes are introduced into injured brain cells for long periods of time (up to nine months), the cells' capacity for survival and regeneration is significantly increased," he said.

"We have now shown that these same neurons have also changed shape in response to persistent over-expression of the growth factors.  Importantly, it is not just neurons containing the introduced growth-promoting gene that are affected, but neighbouring "bystander" neurons."

Professor Harvey said neural morphology was very important in determining how a cell communicated with other cells and formed the circuits that allowed the brain to function.

"Any changes in morphology are therefore likely to alter the way neurons receive and transmit information.  These changes may be beneficial but could also interfere with normal brain circuits, reducing the benefits of improved survival and regeneration."

Professor Harvey said the results were significant for those involved in designing gene therapy-based protocols to treat brain and spinal cord injury and degeneration.

"These new results suggest that we may need to be careful about the types of genes we use in neurotherapy and how long we continue the therapy.  While it may be beneficial for these genes to move around and cause changes in other cells, we need to be able to switch them off once the change has taken place."

Provided by University of Western Australia

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Neurons change shape after gene therapy

15-02-2012 11:28 The brave new world of the genome and genetics research is leading to the development of targeted cancer therapies that eliminate the debilitating side effects of chemotherapy and radiation treatments. Pier Paolo Pandolfi, MD, PhD, Scientific Director of BIDMC's Cancer Center, explains his work developing personalized therapies and discusses promising future directions in cancer research.

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Voices of BIDMC Research: Genetics

Dilated cardiomyopathy, a common cause of heart failure, can be attributed to defects in any of more than 40 different genes. A new study reveals that defects in the gene that encodes the human body’s largest protein, the muscle protein titin, are responsible for more cases of the disease than are caused by all other known mutations.

In a study of nearly 800 people, researchers found unique mutations that truncate titin in 22% of people with dilated cardiomyopathy. Researchers have had a difficult time learning exactly how Titin mutations lead to the disease because of the high expense and technical difficulty in sequencing the unusually large gene.

“It wasn’t that we weren’t aware that titin caused disease—we were. The problem was that the technology was not sufficiently robust to allow comprehensive analysis of that gene in a large collection of patients.”
Christine E. Seidman

In dilated cardiomyopathy, the heart blows up like a balloon. The stretched-out walls of muscle aren’t able to contract effectively, so the heart starts to fail at its job of pumping blood around the body. Deprived of oxygen and nutrients, the patient gets short of breath easily and retains fluid. Eventually, the only option is a heart transplant.

Dilated cardiomyopathy tends to run in families, so Christine Seidman, a Howard Hughes Medical Institute (HHMI) investigator at Brigham and Women’s Hospital in Boston, and her team have looked for—and found—several genes associated with the disease. But still, “we weren’t getting very far,” she says. Every gene was a step forward, but each gene still only accounted for a small percentage of cases of dilated cardiomyopathy. “We had the sense that maybe we’re missing something,” Seidman says. “We took a step back a few years ago to say, ‘What are we missing?’”

Seidman and her colleagues realized that, over the years, they had found several hints that problems with the titin protein could cause dilated cardiomyopathy. Titin is part of the sarcomere, the unit of muscle that contracts. Titin helps assemble the sarcomere as the heart muscle grows and also plays a role in muscle contractions.

But no one had ever organized a big study on titin. “It wasn’t that we weren’t aware that titin caused disease—we were,” Seidman says. “The problem was that the technology was not sufficiently robust to allow comprehensive analysis of that gene in a large collection of patients.”

The problem, in short, was that titin is enormous and sequencing was expensive. The protein is the longest humans make, some 33,000 amino acids stuck end to end. By comparison, the motor protein myosin has about 2,000 amino acids and Lamin A/C, a nuclear membrane protein that is also associated with dilated cardiomyopathy, only has about 675 amino acids. It was just too expensive to sequence big genes in a big group of people, so researchers had passed it over.

In the last decade, the technology has changed. Next-generation sequencing techniques have made it relatively cheap and easy to sequence long stretches of DNA fast. In a study published February 16, 2012, in The New England Journal of Medicine, Seidman and her colleagues sequenced the gene TTN, which codes for titin, in 312 people with dilated cardiomyopathy. They found 72 mutations that made incomplete forms of titin. Together, these explained about a quarter of the cases of dilated cardiomyopathy that run in families and weren’t caused by something else, like cardiovascular disease. That’s more than all the other genes they’d found put together.

Seidman, her husband Jon Seidman, and their colleagues at Harvard Medical School started out with a smaller group, 92 people with dilated cardiomyopathy who came to Brigham and Women’s Hospital. When they began their study, the team expected to find that TTN was yet another gene that accounted for a small number of cases of the disease. They were shocked by what they found: 28 percent of the people had dramatic mutations in the DNA encoding titin, the kind that mean the protein wouldn’t be fully made.

When they did their initial analysis of that data, Seidman recalls, “we said, ‘this is too good to be true.’ “That’s why we went and got more cohorts.” They then sequenced the TTN gene in 71 people with dilated cardiomyopathy from Imperial College in the UK who had been evaluated for heart transplants—they were, on average, much sicker than the Boston patients—and 149 other people with dilated cardiomyopathy from the University of Colorado and the University of Trieste in Italy. The team also sequenced the gene in 231 people with another form of cardiomyopathy recruited at the Mayo Clinic and 249 controls who did not have cardiomyopathy. Stuart Cook at Imperial College, Luisa Mestroni and Matthew Taylor at the University of Colorado, and Michael Ackerman at the Mayo Clinic led the efforts at the collaborating institutions. The data from that larger analysis confirmed what their initial study had hinted: mutations in the TTN gene are the most common known genetic cause of dilated cardiomyopathy.

Seidman hopes someday doctors will use this information to identify people who are likely to develop dilated cardiomyopathy before they get sick. As sequencing continues to get cheaper, it should eventually be possible for individuals to find out if they have a mutation associated with dilated cardiomyopathy. Then they could start taking drugs that make the heart’s work easier by lowering blood pressure, for example.

As scientists figure out how dilated cardiomyopathy develops, they may also be able to figure out how to keep the heart muscle from changing shape in the first place. Those days are far off, but this research is a step in the right direction, Seidman says. “It allows us to focus on what we don’t know yet,” she says. Discovering the role of mutations in titin is like finding one important piece of a jigsaw puzzle. “There are still a lot more pieces in the box that we need to sort through, but that’s a big deal.”

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Researchers Identify New Gene Mutations that Cause Heart Disorder

WEDNESDAY, Feb. 15 (HealthDay News) -- Researchers report that they've discovered the importance of a particular gene in kicking off puberty in humans, a finding that offers insight into how the mysterious process begins and could help children who suffer from a rare disease that prevents the start of puberty.

An analysis of the DNA of a family whose members have suffered from the disease confirmed that the gene is vital because it paves the way for the body to process a hormone known as kisspeptin.

"Without kisspeptin, a human being cannot attain sexual characteristics of his/her gender and child-bearing capacity. Kisspeptin is absolutely required for the start of the puberty process in humans," said study author Dr. A. Kemal Topaloglu, of the department of pediatric endocrinology at Cukurova University in Adana, Turkey.

A mutation in the gene, the researchers found, can cause a rare condition called hypogonadotropic hypogonadism, in which children don't fully enter puberty.

Dr. William F. Crowley Jr., director of the Harvard Reproductive Endocrine Sciences Center at Harvard Medical School, said the condition affects no more than one in 10,000 children, and perhaps even fewer.

"They look like they're 12 years old, even when they're 20. They don't have a growth spurt and tend to be short, and the males don't shave," Crowley said.

In the new study, researchers examined the genetic makeup of a family in which four daughters had the disease. They linked the disease to a mutation in the gene that creates a receptor that processes the kisspeptin hormone.

The hormone can be used to make the brain produce hormones that stimulate the maturation of ovaries and testicles, Topaloglu said. Also, medications that shut down the hormone could be used to treat a condition that causes early puberty, he said, or serve as a contraceptive.

"Such drugs can also be used in the treatment of cancers that are stimulated by sex hormones, the most notably breast and prostate cancers," Topaloglu said.

The research could lead to alternative treatments for the puberty-preventing disease. Currently, hormone therapy is almost always a success when used to treat kids with the condition, but it's more difficult to enable them to have children of their own once they grow up, Topaloglu said.

As for the big question of what causes puberty, Crowley said the new findings help provide another clue. They show how the gene -- one of 19 -- helps turn on the pilot light that powers puberty, he said.

"This is a very rare cause of a very rare condition," he said. "But every piece of this puzzle winds up being very important to putting the whole thing together."

The study appears in the Feb. 16 issue of The New England Journal of Medicine.

More information

For more about puberty and adolescence, try the U.S. National Library of Medicine.

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Gene Linked to Start of Puberty

Public release date: 15-Feb-2012
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Contact: Marjorie Montemayor-Quellenberg
mmontemayor-quellenberg@partners.org
617-534-2208
Brigham and Women's Hospital

BOSTON, MA?Mutations in TTN?the largest gene in the human genome?cause idiopathic (unknown cause) dilated cardiomyopathy (DCM), a common form of heart failure, according to a study by Brigham and Women's Hospital (BWH) researchers. The TTN gene encodes a protein that functions as a scaffold for assembly of contractile proteins in muscle cells and also regulates the production of force in cardiac muscle cells.

Because of its enormous size, the TTN gene was, until recently, too difficult to sequence and analyze in large numbers of patients. But with the development of next-generation sequencing technologies, the time was ripe to tackle TTN. Christine Seidman, MD, BWH Cardiovascular Genetics Center director and a team of dedicated scientists at Harvard Medical School; Imperial College, London; University of Colorado; and physicians at BWH took on the challenge to comb through the gigantic gene. Their study unveils how mutated TTN genes can lead to structural deformations in heart muscle fibers, which may then lead to heart muscle disease. The study will be published in the February 16, 2012 issue of The New England Journal of Medicine.

Researchers analyzed genetic samples from 312 people diagnosed with DCM, 231 with another heart muscle disease called hypertrophic cardiomyopathy (HCM), and 249 people without heart disease. They identified 72 mutations in the TTN gene that foreshorten the encoded protein. These shortened titin proteins lack regions involved in regulating force production in heart cells. Many more mutations were found in those with DCM compared to healthy individuals and those with HCM, indicating that TTN gene mutation causes DCM, but rarely causes HCM.

Moreover, the study notes that outcomes of patients with DCM were similar regardless of whether or not a person has a TTN gene mutation. However, among those that did have TTN mutations, adverse events such as cardiac transplantation, implantation of a ventricular assist device, or death occurred earlier in men than women. Seidman believes that the study findings will help improve future diagnosis and treatment of heart diseases.

"Early diagnosis of any disease, including DCM, can allow interventions that may prevent some of the devastating outcomes, such as sudden cardiac death from an arrhythmia or development of heart failure," said Seidman. "By knowing that TTN mutations account for a substantial amount of idiopathic DCM, we now will have the opportunity for early diagnosis in lots of at-risk individuals, and any person who has a family member with idiopathic DCM."

###

This research was supported by funding from Howard Hughes Medical Institute; National Institutes of Health Leducq Foundation; American Heart Association and Muscular Dystrophy Association; UK National Institute for Health Research Cardiovascular Biomedical Research Unit (Royal Brompton and Harefield NHS Foundation Trust & Imperial College), The British Heart Foundation and the MRC UK; and J. Ira and Nicki Harris Family Research Award.

Brigham and Women's Hospital (BWH) is a 793-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare, an integrated health care delivery network. BWH is the home of the Carl J. and Ruth Shapiro Cardiovascular Center, the most advanced center of its kind. BWH is committed to excellence in patient care with expertise in virtually every specialty of medicine and surgery. The BWH medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in quality improvement and patient safety initiatives and its dedication to educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Biomedical Research Institute (BRI), http://www.brighamandwomens.org/research, BWH is an international leader in basic, clinical and translational research on human diseases, involving more than 900 physician-investigators and renowned biomedical scientists and faculty supported by more than $537 M in funding. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies and the Women's Health Initiative. For more information about BWH, please visit http://www.brighamandwomens.org.

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Mutations in gigantic gene responsible for common heart muscle disease

WEDNESDAY, Feb. 15 (HealthDay News) -- Researchers have discovered a defective gene that's responsible for more than one-quarter of cases of inherited dilated cardiomyopathy, a serious heart muscle disease that often leads to heart failure by middle age.

In the study, published in the Feb. 16 issue of the New England Journal of Medicine, researchers analyzed the DNA of 312 people with dilated cardiomyopathy, 231 people with another form of heart muscle disease (called hypertrophic cardiomyopathy) and 249 people with healthy hearts.

The study patients with dilated cardiomyopathy had no obvious cause for their disease -- such as alcoholism, heart attacks and other infections -- so the researchers believed there was a genetic origin for the disease in these patients.

About 27 percent of the dilated cardiomyopathy patients had mutations on the TTN gene that shortened the length of the gene.

Only 1 percent of the patients with the other form of cardiomyopathy and 3 percent of patients with healthy hearts had similar mutations, the investigators found.

Further analysis of family members' DNA revealed that up to half of the dilated cardiomyopathy patients had first-degree relatives (including parents and siblings) who also had the TTN mutation by age 40, and of those, nearly all (95 percent) had some sign of heart disease, said study co-leader Jonathan Seidman, a professor of genetics at Harvard Medical School.

Seidman's wife, Dr. Christine Seidman, a professor of genetics and a cardiologist at Harvard, was the other study co-leader.

The researchers also estimate that about 20 percent of sporadic cases of the disease, that is, dilated cardiomyopathy that isn't passed down from parents, involve a TTN mutation.

In dilated cardiomyopathy, the chambers of the heart become enlarged, the walls thin and the ability of the heart to pump is impaired. When the heart can't squeeze properly, it can't circulate enough blood, leading to heart failure and landing many people on heart transplant lists.

Prior research has found genetic causes for dilated cardiomyopathy, but collectively those genes account for only about one-fifth of cases, Seidman said.

TTN is a very large gene, which made it difficult to analyze until recently, Seidman explained. The protein that TTN makes contains 30,000 amino acids, while the average protein contains about 1,000 amino acids. Only with the advent of next-generation gene sequencing -- which allows for more genetic data to be analyzed more quickly and for less money -- did it become possible to effectively analyze TTN, he said.

In people with a shortened TTN gene, the protein that's produced causes problems with the filaments inside the muscle fibers that allow the heart to contract.

The few people with healthy hearts who had a similar mutation and didn't have the disease had the shortening on a different location of the gene.

"Not only do they [the people with dilated cardiomyopathy] have the shortened mutation, it has to occur in just the right place," Seidman said.

The analysis also found that men with the TTN mutation are affected more severely than women. "We don't know why," Seidman said, noting that for other causes of heart failure, men also tend to get sicker younger and more severely than women.

To develop dilated cardiomyopathy, children have to inherit just one copy of the mutated TTN gene from a parent, the researchers noted.

Dr. Gordon Tomaselli, president of the American Heart Association and chief of cardiology at Johns Hopkins Medicine in Baltimore, said the study is important for both researchers and patients.

"Of the cases that are inherited [dilated cardiomyopathy], it looks like a substantial proportion are due to mutations in the TTN gene," Tomaselli said.

Currently, genetic tests are available that screen for the other known causes of cardiomyopathy. Soon, possibly within months, expect to see TTN testing added to genetic panels, Tomaselli said.

Although there is no cure for dilated cardiomyopathy, patients who know early on that they are susceptible can take steps to keep their hearts healthier longer, he noted. That may include taking certain heart failure medications, maintaining blood pressure control and other lifestyle changes.

An estimated one-third to one-half of dilated cardiomyopathy cases have a genetic cause, Tomaselli added. The others have an environmental trigger, such as drug or alcohol abuse or infections. For those patients, TTN would likely not play a role in the disease.

More information

The U.S. National Heart, Lung, and Blood Institute has more on cardiomyopathy.

See more here:
Study Finds Gene Behind Inherited Cases of Enlarged Heart

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/1a2254/social_neuroscienc) has announced the addition of John Wiley and Sons Ltd's new book "Social Neuroscience: Gene, Environment, Brain, Body" to their offering.

The social environment has an enormous influence in altering behavior, neuroendocrine function, immune system activity, and cardiovascular and metabolic function. Improving the social environment has an enormous and unrealized potential for altering brain function and systemic physiology to improve physical and mental health and to prevent or slow the course of disease.

This volume presents articles stemming from the 90th Annual Conference of the Association for Research in Nervous and Mental Disease, which focused on the advances in our understanding of gene-environment interactions and their impact on the functioning of the body and mind. The volume aims to advance knowledge of the neural bases underlying positive and adverse social interactions and the impact of these social experiences on the brain and body. A broad range of topics is covered, from fear conditioning to the implementation of treatment strategies in the workplace. The volume also highlights the implications of social experiences and stress on basic neuroscience and physiology, and the potential translational nature of such findings to the clinic and general public.

For more information visit http://www.researchandmarkets.com/research/1a2254/social_neuroscienc

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Research and Markets: Social Neuroscience: Gene, Environment, Brain, Body

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/fc9dd6/primary_and_stem_c) has announced the addition of John Wiley and Sons Ltd's new book "Primary and Stem Cells: Gene Transfer Technologies and Applications" to their offering.

This book describes basic cell engineering methods, emphasizing stem cell applications, and use of the genetically modified stem cells in cell therapy and drug discovery. Together, the chapters introduce and offer insights on new techniques for engineering of stem cells and the delivery of transgenes into stem cells via various viral and non-viral systems. The book offers a guide to the types of manipulations currently available to create genetically engineered stem cells that suit any investigator's purpose, whether it's basic science investigation, creation of disease models and screens, or cells for therapeutic applications.

Key Topics Covered:

PART I: CLONING AND GENE DELIVERY

1. DNA Assembly Technologies Based on Homologous Recombination

2. Multigene Assembly for Construction of Synthetic Operons: Creation and Delivery of an Optimized All-IN-One Expression Construct for Generating Mouse iPS Cells

3. Strategies for the Delivery of Naked DNA

PART II: NONINTEGRATING TECHNOLOGIES

4. Episomal Vectors

5. Nonintegrating DNA Virus

6. Nonintegrating RNA Viruses

7. Protein Delivery

PART III: INTEGRATING TECHNOLOGIES

8. Sleeping Beauty Transposon-Mediated Stable Gene Delivery

9. Integrating Viral Vectors for Gene Modifications

10. Bacteriophage Integrases for Site-Specific Integration

11. Improving Gene Targeting Efficiency in Human Pluripotent Stem Cells

PART IV: APPLICATIONS

12. Modified Stem Cells as Disease Models and in Toxicology Screening

13. Screening and Drug Discovery

INDEX

Author:

UMA LAKSHMIPATHY is a principal investigator at Life Technologies. She has a PhD in life sciences, with academic and industry experience in molecular biology and stem cells. Dr. Lakshmipathy holds four patents and has authored more than forty publications.

BHASKAR THYAGARAJAN is a program manager at Life Technologies. He has a PhD in pharmacology, with expertise in the areas of molecular biology, DNA recombination, gene and cell therapy, and protein purification. He holds one patent and has authored more than twenty publications.

For more information visit http://www.researchandmarkets.com/research/fc9dd6/primary_and_stem_c

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Research and Markets: Primary and Stem Cells: Gene Transfer Technologies and Applications

LANGLEY, BC, Feb. 15, 2012 /CNW/ - The Natural Sciences and Engineering Research Council of Canada (NSERC) has approved a co-sponsored research grant submitted by Bevo Agro Inc. (TSX-V: BVO.V - News) and The University of British Columbia (UBC). The purpose of the grant is to develop a new cultivar of Pawpaw (Asimina triloba), North America's largest native fruit.

In August 2011 , Bevo, in concert with Dr. Kermit Ritland , a professor and plant geneticist at UBC, applied to NSERC for a $200,000 grant, (requiring matching support from Bevo), for a four year research program aimed at establishing a new patentable Pawpaw cultivar. This small tree, produces a tropical-like fruit similar in size and shape to a mango, and having a banana-mango flavour. Due to certain genetic characteristics including a short shelf life, large inedible seeds, and low fruit yields, to date, the Pawpaw has not been an attractive candidate for broad commercialization. Our research program aims to create a new commercially viable cultivar.

After a review of the grant proposal by an NSERC appointed scientific/industrial committee, the grant was conditionally approved in December 2011 pending the execution of a collaborative research agreement between Bevo and the University of British Columbia, which will administer the grant and direct the research program. The collaborative research agreement came into effect on February 06, 2012 .

About Bevo

Bevo Agro is North America's leading supplier of propagated agricultural plants, growing and distributing vegetable, flower, berry and other plant seedlings to North America's growers. Bevo propagates quality seedlings and plants for wholesale vegetable greenhouse growers, field growers and nursery operators from its 40 acres of greenhouse and related production infrastructure.

About NSERC

NSERC, an agency of the Government of Canada , promotes and supports discovery research, and fosters innovation by encouraging Canadian companies to participate and invest in research projects carried out at Canadian universities. Additionally, it helps to train university graduate students in their advanced studies, through participation in NSERC funded research programs.

Neither the TSX Venture Exchange nor its Regulation Services Provider (as that term is defined in the policies of the TSX Venture Exchange) accepts responsibility for the adequacy or accuracy of this release.

More here:
Natural Sciences and Engineering Research Council of Canada Approves Bevo Co-Sponsored Research Grant

Three weeks ago scientists around the world agreed on a 60-day moratorium on certain genetic experiments involving the bird flu virus H5N1. I heard the news on Monday's Morning Edition while driving to work.

The halting of research was deemed necessary after scientists in the Netherlands showed that a genetically modified bird flu virus could pass among ferrets and kill them. The virus, found in wild birds, rarely affects people, and when it does it doesn't spread easily. It is, however, quite deadly. It has killed half of the 500 humans with documented cases. The Dutch group wanted to demonstrate that we should be careful with the virus, that small changes could turn it into a lethal contagious disease that could cause a catastrophic pandemic. By knowing more about the virus and its potential, we could better prepare for the worst-case scenario.

In proving their point, they raised serious issues concerning the nature of scientific research and its control. So much so that the World Health Organization (WHO) has invited a small group of experts to address these issues, starting tomorrow in Geneva.

The scenario is the stuff of movies. Due to a lab accident, or to ill intention, the modified virus escapes into the open and starts spreading and killing, creating worldwide havoc.

In the public imagination, this is not too different from the mythic tale of Dr. Frankenstein and his monster: a scientist, driven by good intention, ends up creating a monster with its own killing agenda. (At least that's how it is in the more popular Hollywood version of Mary Shelley's brilliant exploration of cutting-edge science and man's ability to control nature.)

Michael Osterholm, who serves on the National Science Advisory Board for Biosecurity, is clearly worried, saying, "It would be foolish to not take this very seriously." Late last year, the board considered parts of similar research by a group at the University of Wisconsin-Madison too risky to be disseminated in the normal way to the scientific community, that is, through the publication of peer-reviewed papers and lectures at conferences.

When scientists feel the need to censure other scientists, you can be sure that fierce debate will follow. After all, one of the most cherished aspects of academic science is precisely its openness: Everyone, everywhere should have access to the data and methodology so that results can be replicated, tested, and, usually, improved upon. At least in principle, you should only believe a result when you see it for yourself.

The move to cloister research is a remarkable and worrisome situation. As Keiji Fukuda of the WHO, declared, "We have viruses which exist, we have manuscripts which have been written, we have a moratorium which was declared voluntarily by the researchers, and so given all of that, you know, what are some of the practical steps that we can take?"

Should this kind of research be forbidden? Should it be relegated to ultra-secure labs, the kinds that store Ebola and smallpox? Should it become a national security priority and put in the hands of the government?

Can safeguards be implemented such that key details of the research are only revealed to legitimate researchers? And how will one determine who is legitimate? This brings back the spying paranoia with nuclear weapons that started in Los Alamos during the Manhattan Project and that ended up costing J. Robert Oppenheimer his security clearance and, to a large extent, his dignity. It is fodder for the worst conspiracy theories which, I am sure, have already begun.

We should learn from the history of the atomic bomb and remember that scientific research can never go back: Once it's out it will become available, even if the costs and scientific challenges are high. On the other hand, we should not equate science with Pandora's Box. In the particular case of the H5N1 virus, research aimed at understanding how the virus can pass among people is the best way to make sure it doesn't. Or, if it does, at how to create proper immunization against it. The best that can be done is to have the vaccine ready in case evil intent predicates how the new science will be used.

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Virus Engineering And The Fear Of Science

Public release date: 15-Feb-2012
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Contact: Cathia Falvey
cfalvey@liebertpub.com
914-740-2100
Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, February 15, 2012?Therapeutic cancer vaccines, which stimulate the body's immune system to target and destroy cancer cells, are being used in combination with conventional chemotherapy with growing success, as described in several illuminating articles in Cancer Biotherapy and Radiopharmaceuticals, a peer-reviewed journal from Mary Ann Liebert, Inc. (http://www.liebertpub.com). These articles are available free online at http://www.liebertpub.com/cbr

The U.S. FDA recently approved the first cancer therapeutic vaccine for treatment of metastatic prostate cancer. At least 14 other cancer vaccine strategies are in Phase II or III clinical trials for metastatic melanoma, lung cancer, and lymphoma, for example.

A critical perspective, "Recent Advances in Therapeutic Cancer Vaccines," (http://online.liebertpub.com/doi/full/10.1089/cbr.2012.1200) published in the Journal by Jeffrey Schlom, PhD, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD explains that a key advantage of cancer vaccines used in combination with chemotherapy is the extremely low level of toxicity. "The next frontier for vaccine therapy will be the use of vaccines in combination with certain chemotherapeutic agents, radiation, hormone therapy, and certain small molecule targeted therapies," according to Dr. Schlom.

These emerging areas of cancer vaccine therapy are explored in detail in two accompanying research reports by Dr. Schlom's colleagues at NCI/NIH. James Hodge, Hadley Sharp, and Sofia Gameiro describe how a tumor-targeted vaccine can enhance the effectiveness of radiation therapy on cancer growth and spread beyond the primary tumor in the article "Abscopal Regression of Antigen Disparate Tumors by Antigen Cascade After Systemic Tumor Vaccination in Combination with Local Tumor Radiation." (http://online.liebertpub.com/doi/abs/10.1089/cbr.2012.1202) Drs. Hodge and Gameiro and coauthor Jorge Caballero present the molecular signatures of lung tumor cells that can be made more susceptible to immunotherapy when first exposed to chemotherapeutic agents in the article "Defining the Molecular Signature of Chemotherapy-Mediated Lung Tumor Phenotype Modulation and Increased Susceptibility to T-cell Killing." (http://online.liebertpub.com/doi/abs/10.1089/cbr.2012.1203)

"This perspective and promising research reports are from one of the leading vaccine research laboratories in the world," says Co-Editor-in-Chief Donald J. Buchsbaum, PhD, Division of Radiation Biology, Department of Radiation Oncology, University of Alabama at Birmingham. "The ultimate use of cancer vaccines in combination with other immunotherapies, chemotherapy, or radiation therapy will be based on preclinical investigations and hopefully will produce clinical survival benefit for a range of cancers."

###

Cancer Biotherapy and Radiopharmaceuticals, published 10 times a year in print and online, is under the editorial leadership of Editors Donald J. Buchsbaum, PhD and Robert K. Oldham, MD, Lower Keys Cancer Center, Key West, FL. Cancer Biotherapy and Radiopharmaceuticals is the only journal with a specific focus on cancer biotherapy, including monoclonal antibodies, cytokine therapy, cancer gene therapy, cell-based therapies, and other forms of immunotherapy. The Journal includes extensive reporting on advancements in radioimmunotherapy and the use of radiopharmaceuticals and radiolabeled peptides for the development of new cancer treatments. Topics include antibody drug conjugates, fusion toxins and immunotoxins, nanoparticle therapy, vascular therapy, and inhibitors of proliferation signaling pathways. Complete tables of content and a sample issue may be viewed online at http://www.liebertpub.com/cbr

Mary Ann Liebert, Inc. 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 Journal of Interferon & Cytokine Research; Human Gene Therapy and Human Gene Therapy Methods; and Stem Cells and Development. 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 at http://www.liebertpub.com

Mary Ann Liebert, Inc.
140 Huguenot St., New Rochelle, NY 10801-5215
http://www.liebertpub.com
Phone: 914-740-2100
800M-LIEBERT
Fax: 914-740-2101

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Promising early results with therapeutic cancer vaccines

Scientists working with bird flu recently called a 60-day halt on some controversial experiments, and the unusual move has been compared to a famous moratorium on genetic engineering in the 1970s.

But key scientists involved in that event disagree on whether history is repeating itself.

"I see an amazing similarity," says Nobel Prize winner Paul Berg, of Stanford University.

To him, it's almost eerie to watch events unfold just like they did back then: There's been a startling scientific discovery, concerns raised by an expert committee, then a voluntary moratorium and calls for an international discussion to figure out how to move forward in a way that protects the public.

This time around, fears revolve around experiments on the bird flu virus H5N1. Scientists tweaked its genes and made it more transmissible between ferrets, which are the laboratory stand-in for people.

Some experts fear that if this virus ever escaped or fell into the wrong hands, it could cause a devastating pandemic. On Jan. 20, flu virologists said they'd temporarily halt this line of research. And a small group of experts will meet at the World Health Organization in Geneva on Thursday and Friday to discuss what to do next.

In the 1970s, the concerns centered on the first steps towards what's now known as genetic engineering. Berg had figured out how to splice together DNA from different organisms. This was new, and some people were disturbed by the experiments Berg wanted to do that involved viruses and bacteria.

"People said, 'Hey, you're doing this crazy experiment, you're potentially spreading cancer genes, etc., etc,' " recalls Berg. "I said, 'Nonsense!' "

But as he talked to people, he began to realize that he couldn't say there was zero risk. And the tools he had pioneered were advancing rapidly. More and more people were doing this kind of work. So Berg and some colleagues took an unusual step.

They asked scientists around the world to hold off on certain experiments until there was a consensus on how to do them safely. In February of 1975, about 150 researchers gathered at the Asilomar conference center in Pacific Grove, Calif.

"They developed guidelines and policy for how to do that research, and we still live with many of those guidelines and policies today," says Paul Keim, a microbiologist at Northern Arizona University who chairs a government advisory committee that recently reviewed the bird flu research.

It recommended keeping some details of the bird flu experiments under wraps, so as not to provide terrorists with a recipe for a new biological weapon. And Keim and the other committee members recently issued a statement that calls the bird flu situation "another Asilomar-type moment."

"The parallels are that, you know, there is so much uncertainty here. The potential for grave harm is obvious, to most of us," says Keim. "So the thought is, why not pause here, think about what we're doing."

Society's 'Implied Trust' In Scientists

But others say today's controversy over bird flu and the events leading up to Asilomar don't really match up at all.

"There's a whole bunch of differences, actually, that make the situation that we faced in '73 and '75 really quite different from this," says Maxine Singer, a prominent molecular biologist who also was one of the organizers of Asilomar.

The Asilomar conference was forward-looking and focused on the potential risks of hypothetical experiments that scientists hadn't yet done, says Singer. This time around, worrisome bird flu viruses have already been made.

"Now we're talking about locking the barn door after the horses have gone," Singer says. "So that's one big difference."

And a big part of today's debate is whether to try to limit who gets to see key details of those experiments. Singer says that discussions about bird flu research seem to be happening in closed-door meetings convened by government-level agencies. But Asilomar was open to reporters, and was organized by the scientists themselves.

Today's moratorium also feels very different to Stanley Falkow, a prominent microbiologist who was at Asilomar.

This time, scientists agreed to a pause in their work only after a public outcry. "My view is that they're doing it grudgingly," Falkow says.

Society supports scientists and gives them tremendous freedom in their pursuit of knowledge, notes Falkow, "and there's an implied trust. And I think in part what's happened has shaken the trust of many people."

In his view, it's not enough for scientists to think that what they're doing is fine — one of the lessons of Asilomar is to make sure the public will think that, too.

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Scientists Debate How To Conduct Bird Flu Research

By Stephanie Allmon

sallmon@star-telegram.com

Whether science bears out Catherine Ruehle's assertion that she is staying well through nutrition and lifestyle changes alone -- without the use of prescription drugs -- depends on which medical and nutrition experts are asked.

Those who adhere to the emerging philosophy of healthcare called "functional medicine" believe that chronic illnesses and autoimmune disorders such as rheumatoid arthritis are highly attributable to genetic makeup and environmental and lifestyle factors, and that those things should be taken into account by physicians. Too often, they say, doctors use an acute-care model (say, that of a broken bone or appendicitis) to treat chronic disease; they treat the symptoms rather than the causes. The Institute for Functional Medicine (www.functionalmedicine.org) states, "Most physicians are not adequately trained to assess the underlying causes of complex, chronic disease and to apply strategies such as nutrition, diet and exercise to both treat and prevent these illnesses in their patients."Fort Worth registered dietitian Kim Hogue, a member of the IMF, has not consulted with Ruehle but says she thinks her approach makes perfect sense."Food is medicine," Hogue says, adding that gluten, in particular, is a substance that many people don't know they're sensitive to. One of the first courses of action she as a dietician would advise RA patients to take is to eliminate potential food triggers from their diet and slowly try to add them back in, as Ruehle did.In fact, one study cited by WebMD in its Rheumatoid Arthritis Health Center indicates that 30 to 40 percent of RA patients may benefit by eliminating "suspect" foods from their diet, and that an elimination diet is a good way to identify them.Dr. Virginia Reddy, clinical assistant professor of internal medicine in the division of rheumatology at UT Southwestern Medical Center, also has neither consulted with Ruehle nor seen her medical records. She says that, although some studies show that some foods can have an anti-inflammatory effect and that lifestyle factors such as stress and cigarette smoking can contribute to RA flare-ups, a lifestyle-only approach to managing the disease is risky."I think the vast majority of people would not have their disease controlled with such an approach," she says. "There's a spectrum of the disease from very mild to very severe, so potentially people with mild disease where there's not any joint damage ... could manage it well with lifestyle modifications, but for the vast majority it would be a risky approach because when left untreated, in [most patients], RA is going to be disabling."Although a diagnosis of RA used to be a "very scary sentence," Reddy said, now there are very effective treatment options resulting from a tremendous amount of research going on every day.Reddy acknowledges that RA drugs, including steroids, do have potentially harmful side effects. But most of her patients who have experienced the debilitating pain that comes with a full onset of RA "find it very much to be worth it," she says.Patients often do want to talk about lifestyle changes they can make to help control their arthritis."I definitely recommend to all my patients a generally healthy lifestyle, getting sleep, exercising, eating a healthy, balanced diet and not being overweight," she says. But she adds, "In terms of an 'RA diet,' there have been some small studies looking at specific diets in RA patients, but they have not shown any conclusive results."These include studies investigating vegetarian, Mediterranean, elemental and elimination diets, Reddy said."However," she said, "these studies were, in general, too small to draw any particular conclusions about these diets, as more patients on the diets in many of these studies both lost weight (which might have helped the arthritis), but also more patients dropped out of the treatment arms due to adverse events related to the diets."

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'Food is medicine' approach to chronic disease still much debated