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Archive for the ‘Genetic medicine’ Category

The Hospital for Sick Children in Toronto Adopts Life Technologies' Ion Proton™ Sequencer to Launch New Centre for …

Tuesday, June 19th, 2012

CARLSBAD, Calif., June 19, 2012 /PRNewswire/ -- Life Technologies Corporation (LIFE) today announced it has partnered with The Hospital for Sick Children (SickKids) to advance pediatric genomic research on the Ion Proton Sequencer. Under the agreement, the semiconductor-based platform will be the primary instrument on which multiple clinical research samples will be mapped daily on four sequencers in the hospital's newly launched Centre for Genetic Medicine.

SickKids and Life Technologies will collaborate on developing sequencing workflows and protocols for the Ion Proton System that are tailored for studies of interest to researchers in the Centre. The first collaborative project will focus on sequencing clinical research samples to better understand the genetics behind autism, with a long-term goal to sequence up to 10,000 genomes per year to study various diseases in children.

"The perfect storm of unparalleled advances in genome sequencing technology and information science, and a captivated hospital striving for new ways to move forward in medical treatment, bring us to this important day," says the new Centre's Co-Director, Dr. Stephen Scherer, who also leads The Centre for Applied Genomics at SickKids and the University of Toronto's McLaughlin Centre. "We are very excited to work with Life Technologies to enhance our sequencing capabilities, such that 'genomic surveillance' may soon become the first line of investigation in all clinical research studies ongoing at our institution."

"Since the first published draft sequence of the human genome, our knowledge in genetics has exponentially increased," says Dr. Ronald Cohn, Co-Director of the SickKids Centre for Genetic Medicine. "With the help of this new technology, we will be able to further deepen our understanding of the genetic basis of human disease and translate this directly into daily clinical practice. We have finally reached a point, where individualized medicine is not just a theoretical concept, but will become an integral part of clinical care and management."

The Ion Proton Sequencer is designed to sequence an entire human genome in a day for $1,000. Unlike traditional next generation systems, it relies on semiconductor chips to map human exomes and genomes, making it much faster and less expensive to analyze DNA at unprecedented throughput levels and generate accurate sequencing data.

The Ion Proton Systemis based on the same proven technology as its predecessor, the Ion Personal Genome Machine (PGM), which is designed for sequencing small genomes or sets of genes. Combined with Life Technologies' AmpliSeq targeted sequencing technology, researchers can sequence panels of genes associated with disease on the PGM or exomes and genomes on the Ion Proton Sequencer in just a few hours.

"SickKids has a rich history of being at the forefront of pediatric medicine and we are pleased that its leaders have chosen the Ion Proton Sequencer as the Centre's primary technology to push the boundaries of genomics," said Mark Stevenson, President and Chief Operating Officer of Life Technologies. "Ion semiconductor technology's speed, simplicity and scalability are democratizing sequencing, and it will now be applied in disease research to benefit children."

The above mentioned technology is for research use only and not intended for human diagnostic or therapeutic use.

About Life Technologies Life Technologies Corporation (LIFE) is a global biotechnology company with customers in more than 160 countries using its innovative solutions to solve some of today's most difficult scientific challenges. Quality and innovation are accessible to every lab with its reliable and easy-to-use solutions spanning the biological spectrum with more than 50,000 products for translational research, molecular medicine and diagnostics, stem cell-based therapies, forensics, food safety and animal health. Its systems, reagents and consumables represent some of the most cited brands in scientific research including: Ion Torrent, Applied Biosystems, Invitrogen, GIBCO, Ambion, Molecular Probes, Novex, and TaqMan. Life Technologies employs approximately 10,400 people and upholds its ongoing commitment to innovation with more than 4,000 patents and exclusive licenses. LIFE had sales of $3.7 billion in 2011. Visit us at our website: http://www.lifetechnologies.com.

Life Technologies' Safe Harbor StatementThis press release includes forward-looking statements about our anticipated results that involve risks and uncertainties. Some of the information contained in this press release, including, but not limited to, statements as to industry trends and Life Technologies' plans, objectives, expectations and strategy for its business, contains forward-looking statements that are subject to risks and uncertainties that could cause actual results or events to differ materially from those expressed or implied by such forward-looking statements. Any statements that are not statements of historical fact are forward-looking statements. When used, the words "believe," "plan," "intend," "anticipate," "target," "estimate," "expect" and the like, and/or future tense or conditional constructions ("will," "may," "could," "should," etc.), or similar expressions, identify certain of these forward-looking statements. Important factors which could cause actual results to differ materially from those in the forward-looking statements are detailed in filings made byLife Technologies with the Securities and Exchange Commission.Life Technologies undertakes no obligation to update or revise any such forward-looking statements to reflect subsequent events or circumstances.

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Wildfire Upgrade Shaves a Day From the Workflow, Cuts Price of Next Generation Sequencing by 50%, and Maintains …

Thursday, May 31st, 2012

CARLSBAD, Calif., May 31, 2012 /PRNewswire/ --Life Technologies Corporation (LIFE) today announced the 5500xl W Genetic Analyzer has radically simplified the next generation sequencing workflow, as well as significantly improved the economics of sequencing.The 5500xl W combines unique, rapid in-situ template preparation with the industry leading accuracy and pay-per-lane sequencing already well associated with the 5500 Series Genetic Analyzers.Now with the Wildfire upgrade, 5500 Series Genetic Analyzers are transformed into the most affordable, flexible and accurate optical-based system in the next generation sequencing marketplace.

This simple and rapid on-instrument "Wildfire" template preparation technology completely eliminates all tedious and time consuming steps associated with the previous sample preparation methodology. The Wildfire based template preparation takes only two hours and reduces the price of 5500xl sequencing by 50% - delivering the lowest price per read for any next generation sequencer. The 5500xl W upgrade is available to any existing 5500 or 5500xl Genetic Analyzer customer.

The 5500xl W Genetic Analyzer is now capable of delivering the highest number of tags of any next generation sequencer for RNA sequencing experiments. The combination of inexpensive Wildfire template preparation and, pay-per-lane functionality, also enables low price human exome sequencing.

Customers can directly experience the high quality of 5500xl W data by submitting libraries to the Life Technologies Sequencing Center, (LTSC). Researchers interested in using this service should contact SeqCenter@lifetech.com.The LTSC will perform exome or transcriptome sequencing at affordable promotional pricing. For more detailed information regarding the 5500xl W technology, including pricing, please visit http://www.lifetechnologies.com/5500xlW

Customers Experiencing the Benefits of the 5500xl WThe first 5500xl W Genetic Analyzer has now been installed and is operational in Dr. Edwin Cuppen's laboratory within the Medical Genetics Department of the University Medical Center in Utrecht, The Netherlands. The Cuppen lab works in partnership with the Hubrecht Institute and has a strong reputation for combining experimental methods, including next generation sequencing technology and animal model studies.The lab uses special bioinformatics approaches to identify functional elements in genomes and understand the effects of genetic variation under normal and disease conditions.Dr. Edwin Cuppen will be using the 5500xl W Genetic Analyzer tofocus on large scale whole genome structural variation studies.

Dr. Cuppen said "We are very excited to have 5500xl W Genetic Analyzer installed in our laboratory. The simplified workflow and dramatically increased throughput will have an enormous impact on our ongoing and future experiments. Based on our collaboration with Life Technologies, this technology will enable us to perform next generation sequencing with the best accuracy and fast and simple in-situ template preparation. We will use data from the 5500xl W Genetic Analyzer in our high throughput human structural variation study using mate-pair sequencing. This will enable us to survey dozens of genomes at high resolution and sensitivity in just a single lane."

"We are extremely grateful to Dr. Cuppen for his commitment to the 5500 platform with Wildfire technology," said Mark Gardner, vice president and general manager, 5500 business at Life Technologies. "Customers can now place orders for the Wildfire upgrade in every region, and we anticipate that many of our 5500 customers will choose to upgrade in order to take advantage of this revolutionary advancement in the system's workflow, price, and throughput.By combining pay-per-lane flexibility with Wildfire, 5500 customers will achieve the industry's lowest price per read and highest base-calling accuracy with a simple, low cost upgrade."

For research use only. Not for use in diagnostic procedures.

About Life TechnologiesLife Technologies Corporation (LIFE) is a global biotechnology company with customers in more than 160 countries using its innovative solutions to solve some of today's most difficult scientific challenges. Quality and innovation are accessible to every lab with its reliable and easy-to-use solutions spanning the biological spectrum with more than 50,000 products for translational research, molecular medicine and diagnostics, stem cell-based therapies, forensics, food safety and animal health. Its systems, reagents and consumables represent some of the most cited brands in scientific research including: Ion Torrent, Applied Biosystems, Invitrogen, GIBCO, Ambion, Molecular Probes, Novex, and TaqMan. Life Technologies employs approximately 10,400 people and upholds its ongoing commitment to innovation with more than 4,000 patents and exclusive licenses. LIFE had sales of $3.7 billion in 2011. Visit us at our website: http://www.lifetechnologies.com.

Life Technologies' Safe Harbor Statement This press release includes forward-looking statements about our anticipated results that involve risks and uncertainties. Some of the information contained in this press release, including, but not limited to, statements as to industry trends and Life Technologies' plans, objectives, expectations and strategy for its business, contains forward-looking statements that are subject to risks and uncertainties that could cause actual results or events to differ materially from those expressed or implied by such forward-looking statements. Any statements that are not statements of historical fact are forward-looking statements. When used, the words "believe," "plan," "intend," "anticipate," "target," "estimate," "expect" and the like, and/or future tense or conditional constructions ("will," "may," "could," "should," etc.), or similar expressions, identify certain of these forward-looking statements. Important factors which could cause actual results to differ materially from those in the forward-looking statements are detailed in filings made byLife Technologies with the Securities and Exchange Commission.Life Technologies undertakes no obligation to update or revise any such forward-looking statements to reflect subsequent events or circumstances.

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Nobelist Speaks Out on Genetic Modification, Synthetic Biology, Stem Cell Research

Friday, May 25th, 2012

ASTANA, Kazakhstan, May 24, 2012 /PRNewswire/ --Sir Richard Roberts, the eminent British biologist and Nobel Prize laureate, said today European opposition to genetically modified organisms is political rather than scientific in nature.

He also said "personal medicine" based on human genome research holds large-scale promise to improve the health of the world's people on an individualized basis.

Roberts, who won the Nobel in 1993 for his shared discovery of split genes, made his remarks at the Astana Economic Forum, a global conference of scientists, academics, multinational executives and government leaders.

"On a political level, governments must embrace genetically modified organisms (GMOs) and not give way to European prophets of doom, who oppose the use of GMOs for purely political reasons," said Roberts. "It is important to note there is a complete absence of evidence that GMOs can cause any harm. Indeed to any well-informed scientist, traditionally bred plants seem much more likely to be harmful than GMOs."

Roberts predicted growing knowledge of the human genome will yield better medical treatments and diagnostics. "It is just as important that we learn more about the bacteria that colonize our bodies since they are an essential part of what it means to be human," he said.

He also predicated synthetic biology will enable scientists to build novel microorganisms from "scratch."

"Most exciting is the promise of stem cells where the challenge is to understand how they drive their differentiation into all of the other cell types in our bodies," Roberts said. "While I do not advocate prolonging life indefinitely, I am very much in favor of ensuring that as we age, the quality of our life does not diminish."

The annual Astana Economic Forum this year has drawn thousands of participants from more than 80 nations to this rapidly growing Central Asian nation. There has been much focus at the current sessions on the Greek financial crisis and turbulence in the Euro currency, in addition to the broader economic, scientific and international trade issues that are a traditional mainstay at Astana.

Deal making is a big part of both the official and the unofficial agenda at Astana. Multinationals represented include Chevron, Toyota, Nestle, Microsoft, BASF, Total, General Electric.

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Processed EHR text can be used to develop CDS tools Read more: Processed EHR text can be used to develop Clinical decision support tools with automated text processing

Sunday, May 6th, 2012

See on Scoop.itinPharmatics

Free text in electronic health records, with the help of natural language processing (NLP) technology, can be used to create accurate clinical decision support (CDS) tools, according to a study published this week in the Journal of the American Medical Informatics Association

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Why mHealth hasn’t created an Instagram (yet)

Sunday, May 6th, 2012

See on Scoop.itinPharmatics

Read about why a Qualcomm Life executive says mobile health doesn’t yet have an Instagram, and why it eventually will.

See on http://www.medcitynews.com

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Processed EHR text can be used to develop CDS tools Read more: Processed EHR text can be used to develop Clinical decision support tools with automated text processing

Sunday, May 6th, 2012

See on Scoop.itinPharmatics

Free text in electronic health records, with the help of natural language processing (NLP) technology, can be used to create accurate clinical decision support (CDS) tools, according to a study published this week in the Journal of the American Medical Informatics Association

See on jamia.bmj.com

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Why mHealth hasn’t created an Instagram (yet)

Sunday, May 6th, 2012

See on Scoop.itinPharmatics

Read about why a Qualcomm Life executive says mobile health doesn’t yet have an Instagram, and why it eventually will.

See on http://www.medcitynews.com

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Microsoft Lync Pilot Aids AstraZeneca Sales Rep, Researcher Collaboration – Health Care IT – News & Reviews – eWeek.com – eWeek Mobile

Sunday, April 15th, 2012

Via Scoop.itinPharmatics

Biopharmaceutical vendor AstraZeneca has launched a unified communications pilot using Microsoft Lync to improve collaboration among pharmaceutical sales reps, doctors and researchers.
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Microsoft Lync Pilot Aids AstraZeneca Sales Rep, Researcher Collaboration – Health Care IT – News & Reviews – eWeek.com – eWeek Mobile

Sunday, April 15th, 2012

Via Scoop.itinPharmatics

Biopharmaceutical vendor AstraZeneca has launched a unified communications pilot using Microsoft Lync to improve collaboration among pharmaceutical sales reps, doctors and researchers.
Via mobile.eweek.com

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American Diabetes Association to provide millions of website users medication monitoring service using Quintiles’ Digital Patient Unit –

Sunday, April 8th, 2012

Via Scoop.itinPharmatics

 Quintiles and the American Diabetes Association announced a strategic agreement in which Quintiles’ Digital Patient Unit will provide the Association’s millions of website users access to Quintiles’ medication monitoring service.

 

The Association’s constituents who opt in for the service will receive free safety checks of their medications to identify potential interactions and other risk factors, which are already provided to the 2.5 million registered users of Quintiles’ http://www.MediGuard.org. Registrants will also be eligible to participate in select direct-to-patient programs to benefit their medical conditions and advance global diabetes patient care.

 

The Association’s constituents may opt in to this service from the Association’s website http://www.Diabetes.org

Via http://www.quintiles.com

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American Diabetes Association to provide millions of website users medication monitoring service using Quintiles’ Digital Patient Unit –

Sunday, April 8th, 2012

Via Scoop.itinPharmatics

 Quintiles and the American Diabetes Association announced a strategic agreement in which Quintiles’ Digital Patient Unit will provide the Association’s millions of website users access to Quintiles’ medication monitoring service.

 

The Association’s constituents who opt in for the service will receive free safety checks of their medications to identify potential interactions and other risk factors, which are already provided to the 2.5 million registered users of Quintiles’ http://www.MediGuard.org. Registrants will also be eligible to participate in select direct-to-patient programs to benefit their medical conditions and advance global diabetes patient care.

 

The Association’s constituents may opt in to this service from the Association’s website http://www.Diabetes.org

Via http://www.quintiles.com

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Oracle acquire cloud based clinical operations and analytics vendor ClearTrial

Sunday, April 1st, 2012

Via Scoop.itinPharmatics

On March 29, 2012, Oracle announced that it has agreed to acquire ClearTrial, a leading provider of cloud-based Clinical Trial Operations and analytics products that make the planning, sourcing, and tracking of clinical projects and financial performance…

Via http://www.oracle.com

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Oracle acquire cloud based clinical operations and analytics vendor ClearTrial

Sunday, April 1st, 2012

Via Scoop.itinPharmatics

On March 29, 2012, Oracle announced that it has agreed to acquire ClearTrial, a leading provider of cloud-based Clinical Trial Operations and analytics products that make the planning, sourcing, and tracking of clinical projects and financial performance…

Via http://www.oracle.com

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World's first bedside genetic test gets green light by prestigious medical publication

Friday, March 30th, 2012

Dr. Derek So and Dr. Jason Roberts. (CNW Group/OTTAWA HEART INSTITUTE, UNIVERSITY OF OTTAWA)

OTTAWA, March 29, 2012 /CNW/ - Developed in Canada and conducted by researchers from the University of Ottawa Heart Institute (UOHI), in partnership with Spartan Bioscience, the world's first bedside genetic test has received acknowledgment by The Lancet, the world's leading general medical journal.

The article Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial, reports on the use of a simple cheek swab test, the Spartan RX CYP2C19, performed by nurses at the patient's bedside. This revolutionary technology allows doctors to rapidly identify patients with a genetic variant known as CYP2C19*2. Cardiac stent patients with this variant are at risk of reacting poorly to standard anti-platelet therapy with Plavix (clopidogrel).

The study demonstrated that tailored drug treatment therapy made possible by the genetic testing successfully protected all of the patients with the at-risk genetic variant from subsequent adverse events, while 30 per cent of patients treated with standard therapy did not receive adequate protection.

"For the first time in medicine, nurses were able to perform DNA testing at the patient's bedside. This is a significant step towards the vision of personalized medicine," said Dr. Derek So, Interventional Cardiologist at the University of Ottawa Heart Institute (UOHI), and principal investigator of the RAPID GENE study.

Study Details The RAPID GENE study enrolled 200 patients who were being treated with cardiac stenting for an acute coronary syndrome or stable angina. Patients were randomized to a treatment strategy of rapid point-of-care genotyping and Effient (prasugrel) for CYP2C19*2 carriers, or to standard therapy with Plavix (clopidogrel). The Spartan RX CYP2C19 bedside DNA test was performed by nurses who received a 30-minute training session, but had no prior laboratory training. The test had a sensitivity of 100% and a specificity of 99.4% compared with DNA sequencing. For CYP2C19*2 carriers, treatment with prasugrel completely eliminated High on-treatment Platelet Reactivity (HPR). HPR is a marker for patients at risk of complications after stenting. In contrast, 30.4% of carriers receiving clopidogrel had HPR at 1 week.

About UOHI As Canada's largest and foremost cardiovascular health centre, the University of Ottawa Heart Institute is dedicated to understanding, treating, and preventing heart disease. We deliver high-tech care with a personal touch, shape the way cardiovascular medicine is practiced, and revolutionize cardiac treatment and understanding. We build knowledge through research and translate discoveries into advanced care. We serve the local, national, and international communities as we pioneer a new era in heart health.

Image with caption: "Dr. Derek So and Dr. Jason Roberts. (CNW Group/OTTAWA HEART INSTITUTE, UNIVERSITY OF OTTAWA)". Image available at: http://photos.newswire.ca/images/download/20120329_C8698_PHOTO_EN_11670.jpg

INFORMATION AND INTERVIEWS Vincent Lamontagne Senior Manager Public Affairs University of Ottawa Heart Institute 613-761-4427 613-899-6760 (cell) vlamontagne@ottawaheart.ca

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Research Spots Potential New Target in Fight Against Baldness

Friday, March 23rd, 2012

WEDNESDAY, March 21 (HealthDay News) -- Men worried about encroaching baldness, take heart: A genetic analysis of tissue taken from both bald and hairier spots on men's scalps has identified a protein involved in male pattern hair loss.

The researchers note that drugs that inhibit the protein are already in development, and it's possible those drugs could one day be used to help men preserve their head of hair.

In the study, researchers from the Perelman School of Medicine at the University of Pennsylvania did an analysis of more than 25,000 genes and honed in on one that produces an enzyme that produces a protein known as PGD2. That protein is present in much higher levels in bald spots.

When scientists placed PGD2 on hair follicles in a petri dish, they found the protein inhibited hair growth.

Researchers then tested the protein on mice genetically engineered to lack a receptor for PGD2, and found that hair growth was unaffected. But when PGD2 was applied to mice that have a different receptor (GPR44), the mice grew less hair.

PGD2 is a type of prostaglandin, or a hormone-like substance known to be involved in many body functions, including regulating the contraction and relaxation of smooth muscle tissue. Drugs that inhibit PGD2, for example, are being studied for use in preventing airway constriction in asthma.

"Several companies have compounds in development that block the receptor for PGD2. Those compounds are being studied to treat asthma," said senior study author Dr. George Cotsarelis, chair and professor of dermatology at University of Pennsylvania School of Medicine in Philadelphia. "We think using these compounds topically . . . could slow down and possibly reverse baldness."

The study is published in the March 21 issue of the journal Science Translational Medicine.

About 80 percent of white men have some degree of hair loss before age 70, according to background information in the study. In balding men, hair follicles don't disappear, but they shrink and produce very small, even microscopic hairs, Cotsarelis explained.

The belief is that something is inhibiting the follicle from growing a normal hair. One of those factors seems to be PGD2, which was found near stem cells in the follicle, which are important in hair growth, Cotsarelis explained.

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Health care for retired people, hospitals, medicine and wellbeing – by Dr Patrick Dixon – Video

Tuesday, March 20th, 2012

17-11-2011 10:50 Future of health care, hospitals, medicine, doctors, physicians, nurses and medical training. How latest research into cancer, stroke, heart disease will change our lives, living longer and healthier. Future of pharmaceuticals and the pharmaceutical industry, role of adult stem cells in organ regeneration and repair of heart, spinal cord, brain, liver, eyes and other tissues. Wellbeing and wellness industry. Gene therapy and genetic prophecy. How genetic engineering will treat illness. Slowing down the aging process. Getting old. Diseases of old age and how they will be treated. Keynote conference speaker Dr Patrick Dixon keynote speaker: Patrick Dixon

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Health care for retired people, hospitals, medicine and wellbeing - by Dr Patrick Dixon - Video

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New genetic path for scleroderma

Tuesday, March 20th, 2012

Public release date: 19-Mar-2012 [ | E-mail | Share ]

Contact: Marla Paul marla-paul@northwestern.edu 312-503-8928 Northwestern University

CHICAGO --- A genetic pathway previously known for its role in embryonic development and cancer has been identified as a target for systemic sclerosis, or scleroderma, therapy. The finding, discovered by a cross-disciplinary team led by John Varga, MD, John and Nancy Hughes Distinguished Professor of Rheumatology at Northwestern University Feinberg School of Medicine, was recently published in the journal Arthritis & Rheumatism.

"We showed, for the first time, that the Wnt signaling pathway is abnormally activated in scleroderma patients," said Varga, who is also a physician at Northwestern Memorial Hospital. "This is significant for three reasons. First, it gives a better picture of scleroderma and fibrosis in general. Second, it provides a strategy for assessing disease severity, progression, and activity. And third, it opens a door for the design of treatments that aim to block the Wnt pathway and restore its normal controlled activity."

Varga's laboratory collaborated with a pulmonary team at Northwestern, along with teams at Case Western Reserve University and Dartmouth University on the discovery.

Researchers studied skin and lung biopsies from scleroderma patients and found that the Wnt pathway was 'turned on', in contrast to healthy individuals where the pathway was 'turned off.' Varga said this activation may be due to loss of Wnt inhibitors that normally serve as 'brakes' on the pathway to prevent its activation.

The team also examined what the pathway does using fibroblasts and stem cells from healthy people. They found Wnt causes fibroblast activation and blocks the development of fat cells (adipocytes), which directly contribute to scar formation and tissue damage seen in scleroderma.

Scleroderma is a chronic autoimmune disease in which the body's immune system attacks itself. It causes progressive thickening and tightening (fibrosis) of the skin and also can lead to serious internal organ damage and, in some cases, death. Scleroderma affects an estimated 150,000 people in the United States, most frequently young to middle-aged women.

"Scleroderma is a complex and poorly understood disease with no cure," said Varga. "Our findings suggest that treatments targeting the Wnt signaling pathway could lead to an effective treatment."

Varga said Northwestern researchers next plan to conduct multi-center preclinical studies to evaluate treatments that block the Wnt pathway in animal models and measure Wnt activity in additional scleroderma biopsies to see if it can be clinically useful as a biomarker.

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New genetic path for scleroderma

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Genetic variation in East Asians found to explain resistance to cancer drugs

Monday, March 19th, 2012

ScienceDaily (Mar. 18, 2012) A multinational research team led by scientists at Duke-NUS Graduate Medical School has identified the reason why some patients fail to respond to some of the most successful cancer drugs.

Tyrosine kinase inhibitor drugs (TKI) work effectively in most patients to fight certain blood cell cancers, such as chronic myelogenous leukemia (CML), and non-small-cell lung cancers (NSCLC) with mutations in the EGFR gene.

These precisely targeted drugs shut down molecular pathways that keep these cancers flourishing and include TKIs for treating CML, and the form of NSCLC with EGFR genetic mutations.

Now the team at Duke-NUS Graduate Medical School in Singapore, working with the Genome Institute of Singapore (GIS), Singapore General Hospital, and the National Cancer Centre Singapore, has discovered that there is a common variation in the BIM gene in people of East Asian descent that contributes to some patients' failure to benefit from these tyrosine kinase inhibitor drugs.

"Because we could determine in cells how the BIM gene variant caused TKI resistance, we were able to devise a strategy to overcome it," said S. Tiong Ong, MBBCh, senior author of the study and associate professor in the Cancer and Stem Cell Biology Signature Research Programme at Duke-NUS and Division of Medical Oncology, Department of Medicine, at Duke University Medical Center.

"A novel class of drugs called the BH3-mimetics provided the answer," Ong said. "When the BH3 drugs were added to the TKI therapy in experiments conducted on cancer cells with the BIM gene variant, we were able to overcome the resistance conferred by the gene. Our next step will be to bring this to clinical trials with patients."

Said Yijun Ruan, PhD, a co-senior author of this study and associate director for Genome Technology and Biology at GIS: "We used a genome-wide sequencing approach to specifically look for structural changes in the DNA of patient samples. This helped in the discovery of the East Asian BIM gene variant. What's more gratifying is that this collaboration validates the use of basic genomic technology to make clinically important discoveries."

The study was published online in Nature Medicine on March 18.

If the drug combination does override TKI resistance in people, this will be good news for those with the BIM gene variant, which occurs in about 15 percent of the typical East Asian population. By contrast, no people of European or African ancestry were found to have this gene variant.

"While it's interesting to learn about this ethnic difference for the mutation, the greater significance of the finding is that the same principle may apply for other populations," said Patrick Casey, PhD, senior vice dean for research at Duke-NUS and James B. Duke Professor of Pharmacology and Cancer Biology.

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Genetic research develops tools for studying diseases, improving regenerative treatment

Monday, March 19th, 2012

Public release date: 19-Mar-2012 [ | E-mail | Share ]

Contact: Mark Weiss mlweiss@k-state.edu 785-532-4520 Kansas State University

MANHATTAN, KAN. -- Research from a Kansas State University professor may make it easier to recover after spinal cord injury or to study neurological disorders.

Mark Weiss, professor of anatomy and physiology, is researching genetic models for spinal cord injury or diseases such as Parkinson's disease. He is developing technology that can advance cellular therapy and regenerative medicine -- a type of research that can greatly improve animal and human health.

"We're trying to build tools, trying to build models that will have broad applications," Weiss said. "So if you're interested in neural differentiation or if you're interested in response after an injury, we're trying to come up with cell lines that will teach us, help us to solve a medical mystery."

Weiss' research team has perfected a technique to use stem cells to study targeted genetic modifications. They are among a handful of laboratories in the world using these types of models for disease. The research is an important step in the field of functional genomics, which focuses on understanding the functions and roles of these genes in disease.

The researchers are creating several tools to study functional genomics. One such tool involves developing new ways to use fluorescent transporters, which make it easier to study proteins and their functions. These fluorescent transporters can be especially helpful when studying neurological disorders such as Parkinson's disease, stroke and spinal cord injury.

"People who have spinal cord injury do not experience a lot of regeneration," Weiss said. "It is one of the problems of the nervous system -- it is not great at regenerating itself like other tissues."

The researchers want to discover a way to help this regenerative process kick in. By studying signals from fluorescing cells, they can understand how neural stem cells are reactivated.

"We want to try and make these genetic markers, and then we can test different kinds of treatment to see how they assist in the regenerative process," Weiss said.

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Genetic research develops tools for studying diseases, improving regenerative treatment

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Can “Clinical Data Integration on the Cloud” be a reality?

Sunday, March 11th, 2012

 

The story I am about to tell is almost 8 years old. I was managing software services delivery for a global pharmaceutical company from India. This was a very strategic account and the breadth of services covered diverse systems and geographies. It is very common that staff from the customer organization visit our delivery centers (offsite locations) to perform process audits, governance reviews and to meet people in their extended organizations.

During one such visit a senior executive noticed that two of my colleagues, sitting next to each other, supported their system (two different implementations of the same software) across two different geographies. They happened to have the name of the systems they support, pinned to a board at their desks. The executive wanted us to take a picture of the two cubicles and email to him. We were quite surprised at the request. Before moving on to speak to other people he asked a couple of questions and realized the guys were sharing each other’s experiences and leveraging the lessons learnt from one deployment for the other geography.  It turned out that this does not happen in their organization, in fact their internal teams hardly communicate as they are part of different business units and geographies

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