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Main Category: Stem Cell Research
Article Date: 15 Feb 2012 - 8:00 PST

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According to a study published in the February issue of the STEM CELL Translational Medicine Journal , a world-first technique for generating adult stem cells (mesenchymal stem cells [MSCs]) has been developed by researchers at the University of Queensland. This new method can be used to repair bone and possibly other organs, and will considerably affect individuals suffering from a variety of serious diseases.

Professor Nicholas Fisk, who leads the collaborative study between the UQ Clinical Research Center (UQCCR) and the UQ's Australian Institute for Bioengineering and Nanotechnology (AIBN), explained:

"We used a small molecule to induce embryonic stem cells over a 10 day period, which is much faster than other studies reported in the literature.

The technique also worked on their less contentious counterparts, induced pluripotent stem cells.

To make the pluripotent mature stem cells useful in the clinic, they have to be told what type of cell they need to become (pre-differentiated), before being administered to an injured organ, or otherwise they could form tumors.

Because only small numbers of MSCs exist in the bone marrow, and harvesting bone marrow from a healthy donor is an invasive procedure, the ability to make our own MSCs in large number in the laboratory is an exciting step in the future widespread clinical use of MSCs.

We were able to show these new forms of stem cells exhibited all the characteristics of bone marrow stem cells and we are currently examining their bone repair capability."

Ernst Wolvetang, co-researcher on the study and AIBN Associate Professor, explained that the technique had overcome a considerable obstacle in the translation of stem cell-based therapy.

Wolvetang said: "We are very excited by this research, which has brought together stem cell researchers from two of the major UQ research hubs UQCCR and AIBN."

Written by: Grace Rattue

Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today

Visit our stem cell research section for the latest news on this subject. UniQuest, The University of Queensland's main commercialization company, invites parties interested in licensing the intellectual property relating to this discovery to contact UniQuest on 3365 4037 or lifesciences@uniquest.com.au.

Source: University of Queensland

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Bone Repair Stem Cell Breakthrough Shows Promise

Recommendation and review posted by Bethany Smith

Posted on February 17, 2012, Friday

KUCHING: Organic solutions company Juice Beauty is introducing three new products in its Stem Cellular Repair line to the public, incorporating technology and science in delivering the new products.

“The three products, namely Stem Cellular Repair Moisturiser, Stem Cellular Repair Eye Treatment and Stem Cellular Repair Booster Serum work at the cellular level to repair damage and increase cellular proliferation,” explained Juice Beauty retail outlet manager, Shirley Ann Tan.

The products were noted to have used the brand’s own proprietary blend of organic fruit stem cells injected into its clinically validated antioxidant rich organic juice base to help decrease DNA damage and accelerate cellular proliferation.

Tan stated that Juice Beauty products were antioxidant-rich and made from 100 per cent organic juices. The formulations were protected from environmental contamination with high tech airtight pump jars.

The manager added, “The reason we are so intent in creating organic products is that we want people to avoid using harmful chemicals in their skin care range for health purposes. People with eczema, skin problems and allergies could feel free to try out our organic products.”

Juice Beauty’s boasts its patent-pending juice base which does not have any drying effect on the skin or suffocate the skin as alcohol- or petroleum-based products do.

“Using an organic juice base provides the benefit of having every drop of the product feed your skin,” she highlighted.

The new products are currently available at Juice Beauty’s outlet at tHe Spring Mall.

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Juice Beauty’s to boost organic skin care further with Stem Cellular Repair line

Recommendation and review posted by Bethany Smith

Public release date: 16-Feb-2012
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Contact: Tara Womersley
tara.womersley@ed.ac.uk
44-131-650-9836
University of Edinburgh

Scientists have found a way to generate and maintain stem cells much more efficiently by amplifying the effect of an essential protein.

Researchers from Denmark, Scotland and the USA have created synthetic versions of a protein, which manipulates adult cells ? such as skin cells ? so that they can subsequently revert to an earlier, embryonic like state. These reverted cells have the potential to become any cell in the body.

As well as reverting adult cells to this state ? known as induced pluripotent stem cells , the protein also plays a key role in maintaining embryonic stem cells in a pure form. If the protein ? Oct4 ? is not present, the embryonic stem cells will start to differentiate into specific cells.

In order to reprogamme adult cells to have stem cell properties viruses need to be added to cell cultures to trigger production of significant quantities of Oct4.

Oct4 plays a powerful role in regulating stem cell genes. However, while large quantities of Oct4 are needed too much of it can ruin the properties of stem cells.

Scientists, whose work is published in the journal Cell Reports, were able to overcome this by producing a synthetic version of Oct4 that amplified the effect of the protein in its natural form.

The synthetic version of Oct4 was much more efficient in turning on genes that instruct cells on how to be stem cells and, as a result, the cells did not need as much Oct4 for either reprogramming or to remain as stem cells ? thereby eliminating problems caused by too much Oct4.

In fact, the synthetic Oct4 could support stem cells under conditions that they do not normally grow. These findings could also help scientists find new ways generate stem cells in the laboratory.

The study showed that Oct4 was mainly responsible for turning on genes that instruct cells on how to become stem cells, rather than turning off genes that encourage the cells to differentiate.

"Our discovery is an important step towards generating and maintaining stem cells much more effectively," says Professor Joshua Brickman, affiliated with both The Danish Stem Cell Center (DanStem), University of Copenhagen and Medical Research Council Centre for Regenerative Medicine at the University of Edinburgh.

"Embryonic stem cells are characterized, among other things, by their ability to perpetuate themselves indefinitely and differentiate into all the cell types in the body ? a trait called pluripotency. But to be able to use them medically, we need to be able to maintain them in a pure state, until they're needed. When we want to turn a stem cell into a specific cell, such as insulin producing beta cell, or a nerve cell in the brain, we'd like this process to occur accurately and efficiently. This will not be possible if we don't understand how to maintain stem cells as stem cells. As well as maintaining embryonic stem cells in their pure state more effectively, the artificially created Oct4 was also more effective at reprogramming adult cells into so-called induced Pluripotent Stem cells, which have many of the same traits and characteristics as embryonic stem cells but can derived from the patients to both help study degenerative disease and eventually treat them.."

Oct4 is a so-called transcription factor ? a protein that binds to specific DNA sequences, thereby controlling the flow (or transcription) of genetic information from DNA to mRNA. The synthetic version of Oct4 was created by using recombinant DNA technology whereby a gene was modified to produce new and more active protein. The modified gene was either introduced into stem cells or used to reprogram adult skin cells.

If scientists can exploit this programming of stem cell programs, it will improve the ability to generate stem cells directly from a patient. These cells could in turn potentially be used for individualised studies and for developing individualized therapies for degenerative diseases such as type 1 diabetes and neuro-degenerative diseases.

###

The paper "Transcriptional Activation by Oct4 Is Sufficient for the Maintenance and Induction of Pluripotency", is published in Cell Reports on February 16, 2012, 12:00 EST US time/18:00 Danish time/17:00 UK time. The study involved mouse embryonic stem cells, early embryonic progenitors cells in frogs as well as iPS cells from both mouse and human sources. The research was supported by grants from the Novo Nordisk Foundation (DK), the Medical Reseach Council and the Biotechnology and Biological Sciences Research Council (MRC and BBSRC, UK).

Contact: Tara Womersley, Press and PR Officer, University of Edinburgh, 44-131-650-9836 or 44-7791-355-804

Link to Cell Report: http://cellreports.cell.com/

Embargo: Until February 16 at 12:00 EST US time/18:00 Danish time/17:00 UK time

About DanStem

The Danish Stem Cell Center opened in the Summer 2011 as a hub for international basic, translational and early clinical stem cell research. Professor Brickman and his group joined DanStem in October 2011 to partake in the build-up the center.

DanStem address basic questions in stem cell and developmental biology, and develop novel stem cell based therapeutic approaches for diabetes and cancer. It is supported by two major grants from Novo Nordisk Foundation (DKK 350 million (? 47 million)) and the Danish Research Council for Strategic Research (DKK 64.8 million (? 8,7 million)), respectively. More information about DanStem at: http://danstem.ku.dk

About Medical Research Council Centre for Regenerative Medicine

The MRC Centre for Regenerative Medicine (CRM) is a world leading research centre based at the University of Edinburgh. Together we study stem cells, disease and tissue repair to advance human health. Our research is aimed at developing new treatments for major diseases including cancer, heart disease, diabetes, degenerative diseases such as multiple sclerosis and Parkinson's disease, and liver failure. http://www.crm.ed.ac.uk

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Synthetic protein amplifies genes needed for stem cells

Recommendation and review posted by Bethany Smith

GAITHERSBURG, MD--(Marketwire -02/16/12)- Cytomedix, Inc. (OTC.BB: CMXI.OB - News) (the "Company"), a leading developer of biologically active regenerative therapies for wound care, inflammation and angiogenesis, today announced that Chief Operating Officer Edward L. Field will present a clinical overview of Aldagen's autologous cell therapy technology at two upcoming meetings: The Cell Society's 2nd Annual Clinical Meeting being held February 17-18 at the Coronado Marriott Resort in San Diego; and the 7th Annual New York Stem Cell Summit being held on February 21 at Bridgewaters New York in New York City.

Mr. Field will present during the session, "Commercialization Opportunities with Adult Stem Cell Therapies," on Friday, February 17 from 8:00 a.m. to 10:00 a.m. Pacific time at the Cell Society meeting.

Cell Society International is a non-profit organization dedicated to advancing the clinical application of adult stem cell therapies worldwide. Cell Society's 2nd Annual Clinical Meeting will continue in the tradition established at the 1st Annual Meeting and will offer a unique opportunity for multidisciplinary, international clinical collaboration designed to enhance understanding and thought-provoking insight into treatments and cures for disease and agonizing medical conditions. This year's clinical focus will center on therapies particularly relevant to cardiology, neurology, and orthopedic and plastic surgery.

At the Stem Cell Summit, Mr. Field will present at 2:35 p.m. Eastern time. This meeting showcases more than 30 of the world's leaders in this rapidly evolving industry. The New York Stem Cell Summit brings the future of this dynamic industry to life for investors, industry, practitioners and analysts so they can learn about the investment opportunities in the stem cell marketplace, groundbreaking stem cell products that physicians use today and the growing market potential in terms of revenues.

About Cytomedix, Inc.

Cytomedix, Inc. develops, sells and licenses regenerative biological therapies primarily for wound care, inflammation and angiogenesis. The Company markets the AutoloGel™ System, a device for the production of autologous platelet rich plasma ("PRP") gel for use on a variety of exuding wounds; the Angel® Whole Blood Separation System, a blood processing device and disposable products used for the separation of whole blood into red cells, platelet poor plasma ("PPP") and PRP in surgical settings; and the activAT® Autologous Thrombin Processing Kit, which produces autologous thrombin serum from PPP. The activAT® kit is sold exclusively in Europe and Canada, where it provides a completely autologous, safe alternative to bovine-derived products. On February 8, 2012 Cytomedix announced the acquisition of Aldagen, a biopharmaceutical company developing regenerative cell therapies based on its proprietary ALDH bright cell ("ALDHbr") technology, currently in a Phase 2 trial for the treatment of ischemic stroke. For additional information please visit http://www.cytomedix.com

Safe Harbor Statement
Statements contained in this communication not relating to historical facts are forward-looking statements that are intended to fall within the safe harbor rule for such statements under the Private Securities Litigation Reform Act of 1995. The information contained in the forward-looking statements is inherently uncertain, and Cytomedix' actual results may differ materially due to a number of factors, many of which are beyond Cytomedix' ability to predict or control, including many among others, risks and uncertainties related to the Company's ability to successfully integrate this acquisition, to successfully manage contemplated clinical trials, to manage and address the capital needs, human resource, management, compliance and other challenges of a larger, more complex and intergrated business enterprise, viability and effectiveness of the Company's sales approach and overall marketing strategies, commercial success or acceptance by the medical community, competitive responses, the Company's ability to raise additional capital and to continue as a going concern, and Cytomedix's ability to execute on its strategy to market the AutoloGel™ System as contemplated. To the extent that any statements made here are not historical, these statements are essentially forward-looking. The Company uses words and phrases such as "believes," "forecasted," "projects," "is expected," "remain confident," "will" and/or similar expressions to identify forward-looking statements in this press release. Undue reliance should not be placed on forward-looking information. These forward-looking statements are subject to known and unknown risks and uncertainties that could cause actual events to differ from the forward-looking statements. More information about some of these risks and uncertainties may be found in the reports filed with the Securities and Exchange Commission by Cytomedix, Inc. Cytomedix operates in a highly competitive and rapidly changing business and regulatory environment, thus new or unforeseen risks may arise. Accordingly, investors should not place any reliance on forward-looking statements as a prediction of actual results. Except as is expressly required by the federal securities laws, Cytomedix undertakes no obligation to update or revise any forward-looking statements, whether as a result of new information, changed circumstances or future events or for any other reason. Additional risks that could affect our future operating results are more fully described in our U.S. Securities and Exchange Commission filings, including our Annual Report for the year ended December 31, 2010, filed with the SEC and other subsequent filings. These filings are available at http://www.sec.gov.

Originally posted here:
Cytomedix to Showcase Aldagen's Promising Autologous Cell Therapy Technology at Two Regenerative Medicine Meetings

Recommendation and review posted by Bethany Smith

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.

See more here:
Pathfinder to Present at New York Stem Cell Summit

Recommendation and review posted by Bethany Smith

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.

Read more:
Bluebird bio names Genzyme’s Davidson as chief medical officer

Recommendation and review posted by Bethany Smith

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.

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

Recommendation and review posted by Bethany Smith

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?

Recommendation and review posted by Bethany Smith

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

Recommendation and review posted by Bethany Smith

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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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

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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

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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

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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

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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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IT Pros Guide to Data Protection: Top 5 Tips For Securing Data In The Modern Organization
Ready your organization for more robust data protection measures by first implementing these five steps to improve data security in a business- and cost-effective manner.

E Is for Endpoint: Six Security Strategies for Highly Effective IT Professionals
Security professionals know that effective endpoint protection calls for a layered, defense-in-depth approach. But today's endpoints demand even more. Endpoint security now requires a new way of thinking that goes beyond just battling threats to actually enabling operational improvement. Learn the six steps you need to think different about endpoint security.

The Ponemon Institute 2012 State of the Endpoint
The 2012 State of the Endpoint study, sponsored by Lumension and conducted by Ponemon Institute, determines how effective organizations are in the protection of their endpoints and what they perceive are the biggest obstacles to reducing risk. The study is focused on four topics on the state of endpoint security: risk, productivity, resources and complexity.

The CISOs Guide to Measuring IT Security
Many organizations continue to blindly blaze into new technology territory without fully understanding the inherent IT risks. As a CISO, you must be able to facilitate business productivity without the risk. If you can accurately measure your security posture and communicate in terms of business risk as opposed to bits and bytes, you can effectively gain buy-in from key executives on important security initiatives. Learn the key steps to enhancing your security visibility so that you have a voice at the executive table.

Unruly USB Devices Expose Networks to Malware
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

Recommendation and review posted by Bethany Smith

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

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Washington, Feb 14 (ANI): Researchers have conducted a stem cell study in mice, which suggests a novel strategy for treating damaged cardiac tissue in patients following a heart attack.

The approach potentially could improve cardiac function, minimize scar size, lead to the development of new blood vessels - and avoid the risk of tissue rejection.

In the investigation, the researchers isolated and characterized a novel type of cardiac stem cell from the heart tissue of middle-aged mice following a heart attack.

Then, in one experiment, they placed the cells in the culture dish and showed they had the ability to differentiate into cardiomyocytes, or "beating heart cells," as well as endothelial cells and smooth muscle cells, all of which make up the heart.

In another, they made copies, or "clones," of the cells and engrafted them in the tissue of other mice of the same genetic background who also had experienced heart attacks. The cells induced angiogenesis, or blood vessel growth, or differentiated, or specialized, into endothelial and smooth muscle cells, improving cardiac function.

"These findings are very exciting," said first author Jianqin Ye, PhD, MD, senior scientist at UCSF's Translational Cardiac Stem Cell Program.

First, "we showed that we can isolate these cells from the heart of middle-aged animals, even after a heart attack." Second, he said, "we determined that we can return these cells to the animals to induce repair."

Importantly, the stem cells were identified and isolated in all four chambers of the heart, potentially making it possible to isolate them from patients' hearts by doing right ventricular biopsies, said Ye.

This procedure is "the safest way of obtaining cells from the heart of live patients, and is relatively easy to perform," he said.

"The finding extends the current knowledge in the field of native cardiac progenitor cell therapy," said senior author Yerem Yeghiazarians, MD, director of UCSF's Translational Cardiac Stem Cell Program and an associate professor at the UCSF Division of Cardiology.

"Most of the previous research has focused on a different subset of cardiac progenitor cells. These novel cardiac precursor cells appear to have great therapeutic potential."

The hope, he said, is that patients who have severe heart failure after a heart attack or have cardiomyopathy would be able to be treated with their own cardiac stem cells to improve the overall health and function of the heart.

Because the cells would have come from the patients, themselves, there would be no concern of cell rejection after therapy.

The findings suggest a potential treatment strategy, said Yeghiazarians. he study has been published online in the journal PLoS ONE. (ANI)

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Patients' own cardiac stem cells could repair 'heart attack' damage

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When LSA senior Daniel Lee returned to the United States in December from a family trip to Italy feeling ill, he was rushed to the hospital where he received a life-threatening diagnosis — he had aplastic anemia, a disease that prevents bone marrow from producing red and white blood cells.

Upon hearing news of Lee’s dire need for a bone marrow transplant, students mobilized to encourage members of the campus community to donate marrow and raise awareness about the importance of joining the National Marrow Donor Registry.

As part of this effort, Sigma Kappa sorority members will work with DKMS Americas, a donor recruitment center, helping students, faculty and staff members register for the Be The Match Registry today from 10 a.m. to 4 p.m. in the Anderson AB Room in the Union.

LSA senior Samira Monavvari, Lee’s friend, has been working to promote today’s event via Facebook and has received more than 1,000 confirmed attendees. Monavvari said she hopes to be able to help someone else in need of a transplant, even if she doesn't find a match for Lee.

“The fact that Dan is going through this makes us want to donate to people who we don’t even know because it’s so hard seeing what he’s going through,” Monavvari said.

According to Monavvari, Lee is known jokingly by his friends as “the next Steve Jobs,” adding that he is extremely smart, driven and friendly.

“If you ask him what he wants to do, he’ll always say he wants to be known for something,” Monavvari said. “He is the kind of kid who gets along with everyone … that’s why (his diagnosis) has touched everyone so much.”

LSA junior Jessica Kaltz, a member of Sigma Kappa, started organizing the drive prior to Lee’s diagnosis. Kaltz worked with Christian Montgomery, a University alum and DKMS Americas employee, over the past few months to organize the registry at the University.

She wrote in an e-mail interview that she hopes that Lee’s story will inspire people to attend today’s event.

“When people hear about Dan’s story, I think they will see that by simply taking five minutes of their time by signing up to become a donor, they could possibly be the life-saving difference that Dan needs,” Kaltz wrote.

Montgomery explained that the process for joining the registry involves having potential donors fill out a short form and then submit a cheek swab to determine their tissue type.
Potential donors will then be added to the Be The Match Registry, a national list of potential bone marrow donors.

If the donor is contacted as a match and decides to continue with the process, he or she will be required to take a blood test in order to obtain the best match for the patient in need.

Between four and six weeks later, the donor will undergo a marrow extraction procedure or peripheral blood stem cell donation, depending on the patient’s condition. Contrary to popular belief, the donor typically does not experience significant pain, a common misconception about the two procedures, Montgomery said.

Montgomery is not only a DKMS employee, but also a bone marrow donor himself. In 2007, he registered at an event in the Diag, and in January 2008 he was contacted as a potential match for a 22-year-old female in New Jersey suffering from paroxysmal nocturnal hemoglobinuria, a rare blood disease.

Nicole Mausteller, the patient to whom Montgomery made his donation, said her disorder was discovered through blood work that was required as part of the process of becoming a dental assistant.

Montgomery donated through marrow extraction in May 2008, a procedure that he said left him a bit stiff and sore for a few days. After receiving a one-month, six-month and one-year update, Montgomery and Mausteller agreed to exchange contact information. They have been in contact since February 2010 and remain good friends.

“He’s my hero,” Mausteller said.

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Bone marrow drive hopes to help student and save lives

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WALLACE, NC (WECT) - Last year, thousands of people became aware of the serious medical condition of a six-year-old boy from Duplin County.

Wright Lanier passed away in mid-December, but there is no doubt he made an impact on the people who followed his medical condition on Facebook.

In 2010, Wright was diagnosed with a rare immune deficiency. Initially, doctors thought that he had lymphoma.

"The doctors, a lot of times, knew something was wrong, but in testing him nothing ever showed up," said Wright's mother, Dona Lanier. "He had a rare immune deficiency called XLP, which always looked like Lymphona in his body."

Because his condition was worsening, doctors decided Wright needed a bone marrow transplant, which is a procedure to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body. The white cells are the ones that fight infections and the platelets help with blood clotting.

While the transplant actually worked, complications were too great, and Wright died just over a year after the surgery.

"The bone marrow transplant, according to the Cincinnati hospital and Chapel Hill, was a success, meaning it completely cured his XLP and MPS," explained Dona.  "Wright just unfortunately had a lot of complications as a result of the transplant that resulted in his passing."

"While bone marrow transplants are life saving procedures for a lot of children and adults, with diseases that used to be deadly, it can also be very dangerous, and unfortunately not everyone who has a bone marrow transplant survives," said Doctor David Hill, a Wilmington pediatrician.

Before Wright got sick, his mother was the school nurse at Penderlea School. Many of the teachers, including Donna Mintz, followed Wright's progress, and shortly after his death, plans were made to honor the young boy's short life.  A bone marrow registration drive will be held in his name in Wallace this weekend.

"If you knew Wright, you would be spoiled by the smile he had and he gave the best hugs in the world," said Mintz, a teacher and family friend. "And we want to do anything we can for the memory of Wright, to help his family."

"He had the biggest heart and he did live every day like it was his last," said Wright's mom. "He found joy in every single day".

The "Be The Match" registry drive will be held in honor of Wright Lanier this Saturday, from 11 a.m. - 4  p.m. in the Wallace Woman's Club building. Normally, there is a charge to be checked to see if you can become a donor, but this weekend, the fee has been waived.

There will also be other fundraising events taking place on Saturday, and all proceeds will go directly to the "Be The Match" registry.

Copyright 2012 WECT. All rights reserved.

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Bone marrow transplant registration to be held in young boy's memory

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Cambridge personalised medicines pioneer Horizon Discovery Ltd has landed another showpiece deal as part of a new super-cell consortium.

Business Weekly understands that the UK company stands to make a seven-figure haul over the lifetime of an EU-funded project aimed at understanding hES cell differentiation control.

Horizon provides research tools to support the development of personalised medicines. It has joined the EU-FP7 funded ‘4D-Cell-Fate’ consortium  whose aim is to shed light on how stem cell re-programming and differentiation is regulated at the epigenetic level.

As a member of the consortium, Horizon will generate cell-lines harbouring endogenous pathway reporter genes and labelled versions of specific epigenetic target proteins to study their function.

Commercialisation of the output of the programme will be governed by a consortium agreement defined by EU regulation.

4DCellFate brings together 12 groups from nine countries, including academics, research-intensive SMEs, and Pharma, each an international leader in its field, combining expertise in a wide range of cutting-edge technologies and scientific approaches.

The aim of the 4D CellFate project, which is currently funded for five years, is to establish an integrated approach to explore the structure and function of the large multi-protein epigenetic complexes that are involved in control of stem cell self-renewal, lineage commitment, and differentiation.

Horizon will use its proprietary virally-mediated gene-engineering technology, GENESIS™, to alter endogenous genes in hES cells (e.g. via tagging with GFP and HaloTag® technologies) with unprecedented accuracy and precision.

By gaining a greater insight into how Polycomb Repressive Complexes (PRCs), and Nucleosome Remodelling and Deacetylation complexes (NuRD) control stem cell differentiation, it is hoped that better methods will be identified to generate ethical sources of ‘iPS’ stem cells and direct the fate of stem cells into the many forms of specific tissue types that are needed for disease therapy.

Dr Chris Torrance, CSO of Horizon, said: “Generating stem cells and differentiated cell types with greater precision, definition and safety are key areas for delivering on the great promise that stem cell-based therapies could bring to many disease areas.

“Horizon’s gene targeting technology will play a key role in helping to dissect key biological pathways in the fate of stem cells as part of the 4D Cell Fate project. Through this process, new and important approaches to disease therapy will be determined.”

CEO Dr Darrin Disley added: “Our company has a commitment to active involvement in cutting-edge research with leading experts in translational fields, including bringing the power of rAAV-mediated gene targeting technology to the 4D Cell Fate project.”

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Horizon in new super-cell elite

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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

Recommendation and review posted by Bethany Smith

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

Recommendation and review posted by Bethany Smith

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

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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."

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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

Recommendation and review posted by Bethany Smith