Lesley Kelly, 45, underwent stem cell therapy to repair scar tissue buildup in her right arm. (Cytori Therapeutics, Inc.)

By Lara Salahi, ABC News For more than 40 years, Lesley Kelly of Glasgow, Scotland, lived with third-degree burns that stretched over 60 percent of her body.

Kelly was 2 years old when she fell into a bathtub filled with hot water that scorched most of the right side of her body. She lost full range of motion around many of her joints.

"When you have bad scarring, the buildup is very thick and has no elasticity," said Kelly, 45, whose right elbow was most affected by the buildup of scar tissue. "The problem with thermal burn scarring [is that] it's hard to get the range of motion."

Kelly underwent numerous reparative surgeries through the years, but the scar tissue continued to grow back. The procedures did not lessen the look of her scars.

In 2011, Kelly underwent a new, experimental procedure that used stem cells from her own fat tissue to repair the buildup around her right elbow.

Surgeons cleaned the scar buildup around the elbow and used liposuction to pull fat from off Kelly's waist. They separated the fat cells from the stem and regenerative cells, which were then injected into the wound on Kelly's arm. The procedure took less than two hours.

Within months, Kelly was able to regain 40 degrees of motion that she had lost more than 40 years ago.

"If this technology was available earlier in my life, my scars would not have been as bad," said Kelly.

There are an estimated 50,000 to 70,000 burn cases each year in the U.S., according to the American Burn Association.

Go here to read the rest:
New Therapy May Help Burn Victims

Recommendation and review posted by simmons

SAN FRANCISCO, CA--(Marketwire - Oct 1, 2012) - The life sciences sector continued to outperform the broader markets in September, but developments during the month were notable for highlighting the acceleration of the transformation of healthcare through personalized medicine, Burrill & Company says.

"Our healthcare system is dysfunctional and has largely been unchanged through human history in its episodic approach that focuses on treating the symptoms of illness," says G. Steven Burrill, CEO of Burrill & Company, a diversified global financial services firm. "Although personalized medicine's transformation of healthcare is an evolutionary rather than a revolutionary process, the events of the past month point to a rapid acceleration of efforts to make medicine personalized, predictive, and pre-emptive and promises to bend the cost-curve of healthcare in a meaningful way."

The University of Texas MD Anderson Cancer Center's announced an ambitious $3 billion Cancer Moon Shots Program, which seeks to develop new diagnostics, devices, drugs, and policies to detect, prevent, and treat cancer by capitalizing on the convergence of low-cost sequencing, artificial intelligence, and other emerging technologies.

September also saw a number of developments on the sequencing front. Chinese sequencing giant BGI-Shenzhen announced a $117.6 million acquisition of the struggling next-generation sequencing company Complete Genomics. Mountain View, California-based Complete Genomics, which has been working to provide whole genome sequencing through a service-based business model, announced a restructuring in June that included a shift in focus to the development of clinical applications for its whole genome sequencing service. BGI-Shenzhen provides deep pockets that should accelerate the clinical applications of Complete Genomic's technology.

Complete Genomics' larger competitors also announced developments that should accelerate the clinical utility of genomic sequencing. Life Technologies began shipping its low-cost Ion Proton sequencing system. The company said the chip-based system cost about a third of genome scale sequencing systems that rely on light to read a genome. The device sits on a desktop and can sequence exomes and transcriptomes in two to four hours at a cost of $1,000 per run. Life Technologies next expects to release a second-generation chip for the system around the end of the first quarter of 2013 that will be able to sequence the human genome in a few hours for $1,000.

At the same time, the genetic sequencing tools company Illumina and the non-profit healthcare system Partners Healthcare announced an agreement to provide geneticists and pathologists networking tools and infrastructure to report and interpret data from genetic sequencing. By pairing Illumina's expertise in sequencing with Partners Healthcare's understanding of what's needed for clinical utility, the two hope to leverage each other's strengths to deliver a comprehensive sequencing and clinical reporting solution.

Others are also taking steps to apply new personalized medicine approaches to clinical care. The Big Data analytics company GNS Healthcare in September announced a new program with the healthcare insurance company Aetna to use GNS' supercomputing capabilities to help identify Aetna members at risk for heart and metabolic disorders that can result in stroke, heart attack or diabetes, earlier than it does today. GNS will develop data-driven models that will define a person's risk for developing metabolic syndrome using Aetna claims data as well as health records. A separate agreement between GNS and the contract research organization Covance seeks to improve drug development by using GNS' modeling to predict the safety and efficacy of a drug candidate against different patient characteristics.

On the research side, September also saw major advances in understanding the genetics underlying disease. The Encode Project, an ambitious international effort to characterize and publish all of the functional elements in the human genome, found that the 80 percent of DNA once thought of as "junk" actually plays a critical role in regulating genes and can also play a part in the onset of disease. Researchers identified more than 4,000 switches involved in gene regulation. The findings not only create a new understanding of the role of some 80 percent of DNA once thought to serve no functional role, but also provide a new source of potential targets for drugs, and new insight into how genes are regulated and how people become ill.

Separately, a collaborative effort funded by the National Cancer Institute and the National Human Genome Research Institute, using data generated as part of The Cancer Genome Atlas, has provided a new understanding of the four major subtypes of breast cancer and finds shared genetic features between the form of breast cancer known as "Basal-like" or "Triple Negative" breast cancer and serious ovarian cancer. The findings will lead to researchers comparing treatments and outcomes for patients with the two forms of cancer and could lead to new therapeutic approaches.

"With new research findings we are reminded about how much we still don't know, but also of the rapid progress we are making," says Burrill. "We are seeing real examples of personalized medicine moving from idea to practice in meaningful ways."

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Personalized Medicine's Transformation of Healthcare Accelerates

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NEW YORK, Oct. 1, 2012 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

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Report Details

New study shows you commercial potential of regenerative treatments

See what the future holds for translational regenerative medicine. Visiongain's updated report lets you assess forecasted sales at overall world market, submarket, product and regional level to 2022.

There you investigate the most lucrative areas in that research field, industry and market. Discover prospects for tissue-engineered products, stem cell treatments and gene therapy.

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Translational Regenerative Medicine: Market Prospects 2012-2022

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Public release date: 1-Oct-2012 [ | E-mail | Share ]

Contact: Elizabeth Streich estreich@columbia.edu 212-305-3689 Columbia University Medical Center

An experimental treatment for blindness, developed from a patient's skin cells, improved the vision of blind mice in a study conducted by Columbia ophthalmologists and stem cell researchers.

The findings suggest that induced pluripotent stem (iPS) cells which are derived from adult human skin cells but have embryonic properties could soon be used to restore vision in people with macular degeneration and other diseases that affect the eye's retina.

"With eye diseases, I think we're getting close to a scenario where a patient's own skin cells are used to replace retina cells destroyed by disease or degeneration," says the study's principal investigator, Stephen Tsang, MD, PhD, associate professor of ophthalmology and pathology & cell biology. "It's often said that iPS transplantation will be important in the practice of medicine in some distant future, but our paper suggests the future is almost here."

The advent of human iPS cells in 2007 was greeted with excitement from scientists who hailed the development as a way to avoid the ethical complications of embryonic stem cells and create patient-specific stem cells. Like embryonic stem cells, iPS cells can develop into any type of cell. Thousands of different iPS cell lines from patients and healthy donors have been created in the last few years, but they are almost always used in research or drug screening.

No iPS cells have been transplanted into people, but many ophthalmologists say the eye is the ideal testing ground for iPS therapies.

"The eye is a transparent and accessible part of the central nervous system, and that's a big advantage. We can put cells into the eye and monitor them every day with routine non-invasive clinical exams," Tsang says. "And in the event of serious complications, removing the eye is not a life-threatening event."

In Tsang's new preclinical iPS study, human iPS cells derived from the skin cells of a 53-year-old donor were first transformed with a cocktail of growth factors into cells in the retina that lie underneath the eye's light-sensing cells.

The primary job of the retina cells is to nourish the light-sensing cells and protect the fragile cells from excess light, heat, and cellular debris. If the retina cells die which happens in macular degeneration and retinitis pigmentosa the photoreceptor cells degenerate and the patient loses vision. Macular degeneration is a leading cause of vision loss in the elderly, and it is estimated that 30 percent of people will have some form of macular degeneration by age 75. Macular degeneration currently affects 7 million Americans and its incidence is expected to double by 2020.

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Stem cells improve visual function in blind mice

Recommendation and review posted by Bethany Smith

HOUSTON, Oct. 1, 2012 /PRNewswire/ --The Houston Stem Cell Summit will host an extraordinary lineup of keynote speakers who represent the most accomplished stem cell scientists, clinicians and entrepreneurs in the United States. Joining these distinguished speakers will be Governor of Texas, Rick Perry, consistent champion of adult stem cell therapies.

(Logo: http://photos.prnewswire.com/prnh/20120831/NY66463LOGO )

The Houston Stem Cell Summit will be held October 26 27 in its namesake city and will highlight the latest therapeutic research regarding the use of adult stem and progenitor cell therapies. The Summit will also provide a forum for entrepreneurs to discuss their latest efforts to commercialize stem cell therapies, and to debate and discuss FDA and other legal and regulatory issues impacting stem cell research and commercialization.

Opening Keynote Address October 26, 2012 Arnold I. Caplan, PhD, Professor of Biology and Professor of General Medical Sciences (Oncology) Case Western Reserve University

Dr. Caplan has helped shape the direction and focus of adult stem cell research and commercialization. Virtually every adult stem cell company and literally tens of thousands of research papers are based on Dr. Caplan's original and ground breaking research. Professor Caplan is considered to be the "father" of the mesenchymal stem cell and first described this progenitor cell in his landmark paper; "Mesenchymal stem cells", Journal of Orthopaedic Research 1991;9(5):641-650. Since that foundational study, Dr. Caplan has published over 360 manuscripts and articles in peer reviewed journals. Dr. Caplan has been Chief Scientific Officer at OrthoCyte Corporation since 2010. In addition, Dr. Caplan co-founded Cell Targeting Inc. and has served as President of Skeletech, Inc. as its founder. He is the recipient of several honors and awards from the orthopedic research community. Dr. Caplan holds a Ph. D. from Johns Hopkins University Medical School and a B.S. in chemistry from the Illinois Institute of Technology.

Summit Keynote Address October 26, 2012 Texas Governor Rick Perry

Governor Perry is the 47th and current Governor of Texas. Governor Perry has long championed the role of medical technologies in building the future of not only Texas, but also the United States. In many ways, his strong advocacy on behalf of research and advanced medical technologies is one of his strongest and as yet underappreciated legacies. In addition to his service to the state of Texas, Governor Perry has also served as Chairman of the Republican Governors Association in 2008 and again in 2011. Despite a rigorous schedule, particularly in the teeth of this election season, Governor Perry has graciously made time to speak and encourage the researchers, patients, companies and physicians who form the fabric and future of the stem cell therapy community.

Texas Medical Center Keynote Address, October 27, 2012 James T. Willerson, MD

Over the course of his career, Dr. James T. Willerson has served as a medical, scientific and administrative leader for each of the major institutions that are the foundation of the Texas Medical Center. Dr. Willerson is currently President and Medical Director, Director of Cardiology Research, and Co-Director of the Cullen Cardiovascular Research Laboratories at Texas Heart Institute (THI). Dr. Willerson was appointed President-Elect of THI in 2004 and became President and Medical Director in 2008. He is also an adjunct professor of Medicine at Baylor College of Medicine and at The University of Texas MD Anderson Cancer Center. He is the former chief of Cardiology at St. Luke's Episcopal Hospital and the former chief of Medical Services at Memorial Hermann Hospital.

Dr. Willerson has served as a visiting professor and invited lecturer at more than 170 institutions.

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Houston Stem Cell Summit Announces Extraordinary Lineup of Keynote Speakers

Recommendation and review posted by Bethany Smith

For more than 40 years, Lesley Kelly of Glasgow, Scotland, lived with third-degree burns that stretched over 60 percent of her body.

Kelly was 2 years old when she fell into a bathtub filled with hot water that scorched most of the right side of her body. She lost full range of motion around many of her joints.

"When you have bad scarring, the buildup is very thick and has no elasticity," said Kelly, 45, whose right elbow was most affected by the buildup of scar tissue. "The problem with thermal burn scarring [is that] it's hard to get the range of motion."

Kelly underwent numerous reparative surgeries through the years, but the scar tissue continued to grow back. The procedures did not lessen the look of her scars.

In 2011, Kelly underwent a new, experimental procedure that used stem cells from her own fat tissue to repair the buildup around her right elbow.

Surgeons cleaned the scar buildup around the elbow and used liposuction to pull fat from off Kelly's waist. They separated the fat cells from the stem and regenerative cells, which were then injected into the wound on Kelly's arm. The procedure took less than two hours.

Within months, Kelly was able to regain 40 degrees of motion that she had lost more than 40 years ago.

"If this technology was available earlier in my life, my scars would not have been as bad," said Kelly.

There are an estimated 50,000 to 70,000 burn cases each year in the U.S., according to the American Burn Association.

The stem cell therapy, approved in the U.K. to treat soft tissue wounds, is now gaining traction in the U.S.

Here is the original post:
Experimental Stem Cell Therapy May Help Burn Victims

Recommendation and review posted by Bethany Smith

Lesley Kelly, 45, underwent stem cell therapy to repair scar tissue buildup in her right arm. (Cytori Therapeutics, Inc.)

By Lara Salahi, ABC News For more than 40 years, Lesley Kelly of Glasgow, Scotland, lived with third-degree burns that stretched over 60 percent of her body.

Kelly was 2 years old when she fell into a bathtub filled with hot water that scorched most of the right side of her body. She lost full range of motion around many of her joints.

"When you have bad scarring, the buildup is very thick and has no elasticity," said Kelly, 45, whose right elbow was most affected by the buildup of scar tissue. "The problem with thermal burn scarring [is that] it's hard to get the range of motion."

Kelly underwent numerous reparative surgeries through the years, but the scar tissue continued to grow back. The procedures did not lessen the look of her scars.

In 2011, Kelly underwent a new, experimental procedure that used stem cells from her own fat tissue to repair the buildup around her right elbow.

Surgeons cleaned the scar buildup around the elbow and used liposuction to pull fat from off Kelly's waist. They separated the fat cells from the stem and regenerative cells, which were then injected into the wound on Kelly's arm. The procedure took less than two hours.

Within months, Kelly was able to regain 40 degrees of motion that she had lost more than 40 years ago.

"If this technology was available earlier in my life, my scars would not have been as bad," said Kelly.

There are an estimated 50,000 to 70,000 burn cases each year in the U.S., according to the American Burn Association.

See the original post:
New Therapy May Help Burn Victims

Recommendation and review posted by Bethany Smith

Public release date: 1-Oct-2012 [ | E-mail | Share ]

Contact: Stephanie Desmon sdesmon1@jhmi.edu 410-955-8665 Johns Hopkins Medicine

Working with mice, Johns Hopkins researchers say they have developed a gene-based therapy to stop the rodent equivalent of the autoimmune disease myasthenia gravis by specifically targeting the destructive immune response the disorder triggers in the body.

The technique, the result of more than 10 years of work, holds promise for a highly specific therapy for the progressively debilitating muscle-weakening human disorder, one that avoids the need for long-term, systemic immunosuppressant drugs that control the disease but may create unwanted side effects.

The research, if replicated in humans, could be a big leap in treating not only myasthenia gravis, but also other autoimmune disorders, the researchers say.

"To treat autoimmune diseases, we normally give drugs that suppress not only the specific antibodies and cells we want to inhibit, but that also broadly interfere with other functions of the immune system," says Daniel B. Drachman, M.D., a professor of neurology and neuroscience at the Johns Hopkins University School of Medicine and leader of the study published this month in the Journal of Neuroimmunology. "Our goal was to suppress only the abnormal response, without damaging the remainder of the immune system, and that's what we did in these mice."

A healthy immune system has the amazing ability to distinguish between the body's own cells, recognized as "self," and foreign proteins and other substances including germs and tumors to fight infections, cancer and other diseases. The body's immune defenses normally coexist peacefully with cells that carry distinctive "self" marker molecules. But when immune defenders encounter foreign molecules, they quickly launch an attack. Autoimmune disorders occur when the immune system makes a mistake, in which it confuses "self" with something foreign, and then launches an attack by immune cells and/or antibodies to seek out and damage the body's own cells.

Drachman, one of the world's leading authorities on myasthenia gravis and other neurologic autoimmune disorders, and his colleagues say they have found a way to create a "guided missile" approach as opposed to the "carpet bombing" of overall immunosuppression. Essentially, Drachman says, the method eliminates the cells of the immune system that are involved in the attack against self and leaves other cells alone.

The research team created the guided missiles by genetically engineering dendritic cells, which are the immune cells that specialize in presenting antigens to the immune system's T-cells. They extracted dendritic cells from mice with myasthenia gravis, purified them and inserted genes which direct these dendritic cells to target the auto-aggressive immune cells, and destroy them using a "warhead" known as Fas ligand. Then they injected back into the mice the genetically engineered cells, which homed in on the immune system's faulty T-cells. The newly introduced "guided missiles" then sought out and bound themselves to those T-cells, causing apoptosis, or cellular suicide, which halted the autoimmune attack before it could gain traction.

"This way, the autoantibodies were specifically reduced, a key step in treating myasthenia gravis," Drachman says.

Continued here:
Researchers halt autoimmune disease myasthenia gravis in mice

Recommendation and review posted by Bethany Smith

October 1, 2012

redOrbit Staff & Wire Reports Your Universe Online

A team of researchers, led by members of the University of Cincinnati (UC) and Cincinnati Childrens Hospital Medical Center, have reportedly discovered a new genetic mutation that leads to deafness and hearing loss associated with a relatively rare condition.

In a September 30 press release, lead investigator and UC assistant professor of ophthalmology Zubair Ahmed explain that he and his colleagues were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey.

The culprit, according to Ahmed, is a protein known as CIB2. Mutations in the protein, which binds to calcium inside cells, has been discovered to be linked to deafness both in Usher syndrome and cases of non-syndromic hearing loss.

He noted that these mutations were found to be the primary genetic cause of non-syndromic hearing loss in Pakistan, and that during their research, he and his colleagues discovered a second CIB2 mutation that has been linked to deafness among people of Turkish heritage.

In animal models, CIB2 is found in the mechanosensory stereocilia of the inner ear hair cells, which respond to fluid motion and allow hearing and balance, and in retinal photoreceptor cells, which convert light into electrical signals in the eye, making it possible to see, Saima Riazuddin, assistant professor in UCs department of otolaryngology and co-lead investigator on the study, added in a statement.

Ahmed, Riazuddin, and company found that CIB2 tended to be stained brighter at the tips of shorter rows of the cellular apical modifications known as stereocilia than nearby longer rows, where it could be involved in the calcium signaling process which regulates how the ear converts mechanical energy into the type of energy recognizable by a persons brain as sound.

With this knowledge, we are one step closer to understanding the mechanism of mechano-electrical transduction and possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1, Ahmed explained.

Their work appears in the Sept. 30 advance online edition of the journal Nature Genetics. Researchers from the National Institute on Deafness and other Communication Disorders (NIDCD), the Baylor College of Medicine and the University of Kentucky were also involved in the study, which was funded by the NIDCD, the National Science Foundation (NSF), and the Research to Prevent Blindness Foundation.

See the article here:
New Gene Associated With Hearing Loss Discovered

Recommendation and review posted by Bethany Smith

By Daily Mail Reporter

PUBLISHED: 03:02 EST, 1 October 2012 | UPDATED: 03:05 EST, 1 October 2012

A gene that causes 1,000 babies to be born deaf in Britain each year has been discovered by scientists.

It is hoped the breakthrough will lead to new treatments for profound deafness.

Research published online in Nature Genetics shows babies born deaf have mutated versions of a protein called CIB2.

Two deaf children use sign language: Scientists hope their latest genetic discovery will help with developing new treatments

The gene binds to calcium within a cell and is behind a condition known as Usher syndrome type 1 that causes deafness and 'non-syndromic' hearing loss, the study shows.

Dr Zubair Ahmed, of the University of Cincinnati, said: 'In this study, researchers were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey.'

He said these findings could help researchers develop new therapeutic targets for those at risk for this syndrome.

Usher syndrome is a genetic defect that causes deafness, night-blindness and a loss of peripheral vision through the progressive degeneration of the retina.

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Deafness gene discovery could lead to new treatments

Recommendation and review posted by Bethany Smith

Washington, October 1 (ANI): Researchers have discovered a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1.

These findings could help researchers develop new therapeutic targets for those at risk for this syndrome.

For the study, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center work together with the National Institute on Deafness and other Communication Disorders (NIDCD), Baylor College of Medicine and the University of Kentucky.

Usher syndrome is a genetic defect that causes deafness, night-blindness and a loss of peripheral vision through the progressive degeneration of the retina.

"In this study, researchers were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey," said Zubair Ahmed, PhD, assistant professor of ophthalmology who conducts research at Cincinnati Children's and is the lead investigator on this study.

Ahmed stated that a protein, called CIB2, which binds to calcium within a cell, is associated with deafness in Usher syndrome type 1 and non-syndromic hearing loss.

"To date, mutations affecting CIB2 are the most common and prevalent genetic cause of non-syndromic hearing loss in Pakistan. However, we have also found another mutation of the protein that contributes to deafness in Turkish populations," he said.

"In animal models, CIB2 is found in the mechanosensory stereocilia of the inner ear-hair cells, which respond to fluid motion and allow hearing and balance, and in retinal photoreceptor cells, which convert light into electrical signals in the eye, making it possible to see," explained Saima Riazuddin, PhD, assistant professor in UC's department of otolaryngology who conducts research at Cincinnati Children's and is co-lead investigator on the study.

Researchers found that CIB2 staining is often brighter at shorter row stereocilia tips than the neighboring stereocilia of a longer row, where it may be involved in calcium signaling that regulates mechano-electrical transduction, a process by which the ear converts mechanical energy-or energy of motion-into a form of energy that the brain can recognize as sound.

"With this knowledge, we are one step closer to understanding the mechanism of mechano-electrical transduction and possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1," Ahmed said.

Originally posted here:
Gene that causes deafness pinpointed

Recommendation and review posted by Bethany Smith

Editor's Note: Charles Gersbach can be reached at (919) 684-1129 or charles.gersbach@duke.edu. Lauren Polstein can be reached at (919) 688-9100 or Lauren.polstein@duke.edu. A photograph of the researchers is available, as well as an example of the gene expression.

Durham, NC - Using blue light, Duke University bioengineers have developed a system for ordering genes to produce proteins, an advance they said could prove invaluable in clinical settings as well as in basic science laboratories.

This new approach could greatly improve the ability of researchers and physicians to control gene expression, which is the process by which genes give instructions for the production of proteins key to all living cells.

"We can now, with our method, make gene expression reversible, repeatable, tunable, and specific to different regions of a gene," said Lauren Polstein, a graduate student working in the laboratory of Charles Gersbach, assistant professor of biomedical engineering at Duke's Pratt School of Engineering. "Current methods of getting genes to express can achieve some of those characteristics, but not all at once."

The new system can also control where the genes are expressed in three dimensions, which becomes especially important for researchers attempting to bioengineer living tissues.

"The light-based strategy allows us to regulate gene expression for biotechnology and medical applications, as well as for gaining a better understanding of gene function, interactions between cells, and how tissues develop into particular shapes," Polstein said.

The results of the Duke experiments were published online in the Journal of the American Chemical Society (http://tinyurl.com/brt3plh). The research was supported by a Faculty Early Career Development Award from the National Science Foundation and a Director's New Innovator Award from the National Institutes of Health.

The Duke system, which has been dubbed LITEZ (Light Induced Transcription using Engineered Zinc finger proteins), combines proteins from two diverse sources. The light-sensitive proteins are derived from a common flowering plant (Arabidopsis thaliana).

"We hijacked the specific proteins in plants that allows them to sense the length of the day," Gersbach said.

The second protein is in a class of so-called zinc finger proteins, which can be readily engineered to attach to specific regions of a gene. They are ubiquitous in biomedical research.

More here:
Duke Blue Light Controls Gene Expression

Recommendation and review posted by Bethany Smith

Washington, Oct 1 (IANS) Going deaf? Blame a genetic mutation, linked with Usher syndrome type 1, says the latest finding, which could help develop more effective ways of treating this syndrome.

Usher syndrome is a genetic defect that causes deafness, night-blindness and a loss of peripheral vision through the progressive degeneration of the retina.

Researchers from the University of Cincinnati and Cincinnati Children's Hospital Medical Centre, partnered the study with the National Institute on Deafness and other Communication Disorders (NIDCD), Baylor College of Medicine and the University of Kentucky, the journal Nature Genetics reports.

"Researchers were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey," says Zubair Ahmed, assistant professor of ophthalmology from Cincinnati Children's and the study's lead investigator.

Ahmed says that a protein, called CIB2, which binds to calcium within a cell, is associated with deafness in Usher syndrome type 1 and non-syndromic hearing loss. "To date, mutations affecting CIB2 are the most common and prevalent genetic cause of non-syndromic hearing loss in Pakistan," he says, according to a Cincinnati statement.

"With this knowledge, we are one step closer to understanding the mechanism of mechano-electrical transduction and possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1," Ahmed says.

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Genetic defect plays role in hearing loss too

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Public release date: 30-Sep-2012 [ | E-mail | Share ]

Contact: Hilary Glover hilary.glover@biomedcentral.com 44-020-319-22370 BioMed Central

Vibration-induced white finger disease (VWF) is caused by continued use of vibrating hand held machinery (high frequency vibration >50 Hz), and affects tens of thousands of people. New research published in BioMed Central's open access journal Clinical Epigenetics finds that people with a genetic polymorphism (A2191G) in sirtuin1 (SIRT1), a protein involved in the regulation of endothelial NOS (eNOS), are more likely to suffer from vibration-induced white finger disease.

VWF (also known as hand arm vibration syndrome (HAVS)) is a secondary form of Raynaud's disease involving the blood vessels and nerves of arms, fingers and hands. Affected fingers feel stiff and cold and loose sensation for the duration of the attack, which can be very painful. Loss of sensation can make it difficult to carry out manual activities. Initially attacks are triggered by cold temperatures but as the disease progresses attacks can occur at any time.

Little is known about what causes the restriction in blood flow, however researchers from Germany investigated the role of SIRT 1 by looking at polymorphisms (naturally occurring variations in DNA sequence) in people affected by VWF.

SIRT1 regulates activation of other genes by controlling how tightly DNA is wound in the nucleus. Tightly wound DNA cannot be 'read' and consequently cannot be used to make new protein. SIRT1 is known to regulate vasodilation by targeting eNOS, a nitric oxide synthase within the cells lining the inside of blood vessels, which regulates smooth muscle contraction, and hence the diameter of the vessel, and the amount of blood that can flow through it.

Of 113 polymorphisms tested, in the gene coding for SIRT1, only four actually affected the protein, the rest were non-coding or false positives. Of these four, only one was different between people with VWF and unaffected controls. A single nucleotide at position 2191 can either be an A or a G. In the unaffected population 99.7% had the A, but amongst the patients with VWF, almost a third had the G.

Dr Susanne Voelter-Mahlknecht from the University of Tuebingen, who led this study, explained, "While this does not mean that only people with the G version of the gene for SIRT1 will get VWF, it can be used to identify a set of people who would be at risk of VWF if they used vibrating hand held tools. Testing for this variant before starting to work with vibrating machinery could prevent years of pain and disability."

###

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The genetics of white finger disease

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Public release date: 1-Oct-2012 [ | E-mail | Share ]

Contact: Phyllis Edelman pedelman@genetics-gsa.org 301-634-7302 Genetics Society of America

BETHESDA, MD October 1, 2012 With flu season around the corner, getting a seasonal vaccine might be one of the best ways to prevent people from getting sick. These vaccines only work, however, if their developers have accurately predicted which strains of the virus are likely to be active in the coming season because vaccines must be developed in advance of the upcoming flu season. Recently, a team of scientists from Germany and the United Kingdom have improved the prediction methods used to determine which strains of the flu virus to include in the current season's vaccine. The research describing this advance is published in the October 2012 issue of GENETICS (http://www.genetics.org).

"Seasonal influenza kills about half a million people per year, but improved vaccines can curb this number," said Michael Lssig, Ph.D., a researcher involved in the work from the Institute for Theoretical Physics at the University of Cologne in Kln, Germany. "Although this study is some distance from direct applications, it is a necessary step toward improved prediction methods. We hope that it helps yield better vaccines against influenza," Lssig added.

To make this advance, scientists analyzed the DNA sequences of thousands of influenza strains isolated from patients worldwide, dating to 1968. By analyzing this dataset, researchers were able to determine which strains were most successful at expanding into the entire population, and which mutations were least successful in spreading. Using a new statistical method, the researchers found that many more mutations than we thought initially succeed in replicating and surviving. These mutations compete; some make it into the entire population, others die out. This analysis of the virus enables prediction of trends which can help vaccine developers understand the rules of flu virus evolution. This knowledge, in turn, can be used to predict which strains of the virus are most likely to spread through a human population.

"Every year, new concerns emerge about 'super flus' that have the potential to kill many people," said Mark Johnston, Editor-in-Chief of the journal GENETICS. "This research itself will not stop any people from getting sick, but it could give us a heads up to particularly dangerous strains that might be on the horizon. With that information, we may be able to develop increasingly effective vaccines."

###

FUNDING: This work was partially supported by the Wellcome Trust [080711/ Z/06] (N.S.) and by Deutsche Forschungsgemeinschaft grant SFB 680 (to M.L.). This work was also supported in part by the National Science Foundation under grant PHY05-51164 during a visit to the Kavli Institute of Theoretical Physics (University of California, Santa Barbara).

CITATION: Natalja Strelkowa and Michael Lssig Clonal Interference in the Evolution of Influenza Genetics October 2012 192:671-682

ABOUT GENETICS: Since 1916, GENETICS (http://www.genetics.org/) has covered high quality, original research on a range of topics bearing on inheritance, including population and evolutionary genetics, complex traits, developmental and behavioral genetics, cellular genetics, gene expression, genome integrity and transmission, and genome and systems biology. GENETICS, a peer-reviewed, peer-edited journal of the Genetics Society of America is one of the world's most cited journals in genetics and heredity.

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Evolutionary analysis improves ability to predict the spread of flu

Recommendation and review posted by Bethany Smith

ScienceDaily (Sep. 28, 2012) Vibration-induced white finger disease (VWF) is caused by continued use of vibrating hand held machinery (high frequency vibration >50 Hz), and affects tens of thousands of people. New research published in BioMed Central's open access journal Clinical Epigenetics finds that people with a genetic polymorphism (A2191G) in sirtuin1 (SIRT1), a protein involved in the regulation of endothelial NOS (eNOS), are more likely to suffer from vibration-induced white finger disease.

VWF (also known as hand arm vibration syndrome (HAVS)) is a secondary form of Raynaud's disease involving the blood vessels and nerves of arms, fingers and hands. Affected fingers feel stiff and cold and loose sensation for the duration of the attack, which can be very painful. Loss of sensation can make it difficult to carry out manual activities. Initially attacks are triggered by cold temperatures but as the disease progresses attacks can occur at any time.

Little is known about what causes the restriction in blood flow, however researchers from Germany investigated the role of SIRT 1 by looking at polymorphisms (naturally occurring variations in DNA sequence) in people affected by VWF.

SIRT1 regulates activation of other genes by controlling how tightly DNA is wound in the nucleus. Tightly wound DNA cannot be 'read' and consequently cannot be used to make new protein. SIRT1 is known to regulate vasodilation by targeting eNOS, a nitric oxide synthase within the cells lining the inside of blood vessels, which regulates smooth muscle contraction, and hence the diameter of the vessel, and the amount of blood that can flow through it.

Of 113 polymorphisms tested, in the gene coding for SIRT1, only four actually affected the protein, the rest were non-coding or false positives. Of these four, only one was different between people with VWF and unaffected controls. A single nucleotide at position 2191 can either be an A or a G. In the unaffected population 99.7% had the A, but amongst the patients with VWF, almost a third had the G.

Dr Susanne Voelter-Mahlknecht from the University of Tuebingen, who led this study, explained, "While this does not mean that only people with the G version of the gene for SIRT1 will get VWF, it can be used to identify a set of people who would be at risk of VWF if they used vibrating hand held tools. Testing for this variant before starting to work with vibrating machinery could prevent years of pain and disability.

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The genetics of vibration-induced white finger disease

Recommendation and review posted by Bethany Smith

CAMBRIDGE, Mass. & BOTHELL, Wash.--(BUSINESS WIRE)--

Millennium: The Takeda Oncology Company, a wholly owned subsidiary of Takeda Pharmaceutical Company Limited (TSE:4502), and Seattle Genetics, Inc. (SGEN), today announced preliminary data from one arm of a three arm phase I, open-label, multicenter study designed to determine the safety and activity of sequential and combination treatment approaches of brentuximab vedotin with CHOP1 or CH-P chemotherapy in newly diagnosed patients with CD30-positive mature T- and NK- cell lymphomas. Data were presented from one arm, which evaluates brentuximab vedotin in sequence with CHOP in patients with newly diagnosed systemic anaplastic large cell lymphoma (sALCL), a subtype of mature T- and NK cell lymphomas. The data were reported during an oral presentation at the ESMO 2012 Congress (European Society for Medical Oncology) being held September 28 October 2, 2012 in Vienna, Austria.

Brentuximab vedotin is an antibody-drug conjugate (ADC) directed to CD30, a defining marker of sALCL. Data from the other arms of the study evaluating administration of brentuximab vedotin with CH-P are expected to be presented during 2012.

The preliminary data from the sequential treatment arm of this phase I study show that side effects were manageable and there are also some encouraging data on activity, said Michelle Fanale, M.D., University of Texas MD Anderson Cancer Center, Houston, TX. We look forward to reporting additional data from the combination arms of the study at an upcoming medical congress.

Sequential Therapy with Brentuximab Vedotin in Newly Diagnosed Patients with Systemic Anaplastic Large Cell Lymphoma

The oral presentation featured data from Arm 1 of the study, which evaluated treatment with 1.8milligrams per kilogram of single-agent brentuximab vedotin for two cycles prior to sixcycles of CHOP. Patients who achieved a complete remission (CR) or partial remission (PR) following CHOP were eligible to continue single-agent brentuximab vedotin for up to eight cycles. The primary endpoints for Arm 1 are safety and tolerability. The secondary endpoint is investigator assessment of response using the Revised Response Criteria for Malignant Lymphoma (Cheson 2007). The median age of enrolled patients was 62years (range, 23-81). Among the 13 patients with newly diagnosed sALCL, ten had anaplastic lymphoma kinase (ALK)-negative disease and three had ALK-positive disease.

The companies plan to initiate a phase III clinical trial in patients with mature T-cell lymphomas evaluating brentuximab vedotin in combination with CH-P compared to CHOP in late 2012 to early 2013.

Data, presented by Dr. Fanale, included:

Details of the oral presentation are as follows:

Data on brentuximab vedotin was also described in the following poster session:

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Millennium and Seattle Genetics Highlight Data from ADCETRIS® (Brentuximab Vedotin) Trial in Patients with Newly ...

Recommendation and review posted by Bethany Smith

Newswise Bethesda, MDOctober 1, 2012 Listed below are the selected highlights for the October 2012 issue of the Genetics Society of Americas journal, GENETICS. The October issue is available online at http://www.genetics.org/content/current. Please credit GENETICS, Vol. 192, October 2012, Copyright 2012.

Please feel free to forward to colleagues who may be interested in these articles.

ISSUE HIGHLIGHTS

Energy-dependent modulation of glucagon-like signaling in Drosophila via the AMP-activated protein kinase, pp. 457466 Jason T. Braco, Emily L. Gillespie, Gregory E. Alberto, Jay E. Brenman, and Erik C. Johnson How organisms maintain energetic homeostasis is unclear. These authors show that the actions of a known cellular sensor of energythe AMP-activated protein kinase (AMPK)cause release of a glucagon-like hormone in Drosophila. They further show that AMPK regulates secretion of adipokinetic hormone. This suggests new roles and targets for AMPK and suggests metabolic networks are organized similarly throughout Metazoa.

The relation of codon bias to tissue-specific gene expression in Arabidopsis thaliana, pp. 641649 Salvatore Camiolo, Lorenzo Farina, and Andrea Porceddu This article reports systematic differences in usage of synonymous codons in Arabidopsis thaliana genes whose expression is tissue specific. The authors propose that codon bias evolves as an adaptive response to the different abundances of tRNAs in different tissues. Integrity and function of the Saccharomyces cerevisiae spindle pole body depends on connections between the membrane proteins Ndc1, Rtn1, and Yop1, pp. 441455 Amanda K. Casey, T. Renee Dawson, Jingjing Chen, Jennifer M. Friederichs, Sue L. Jaspersen, and Susan R. Wente Budding yeast face an unusual challenge during cell division: they must segregate their chromosomes while the nuclear envelope remains intact. Consequently, mitosis begins with insertion of the duplicated spindle pole body (a.k.a. centrosome) into the nuclear envelope, a process that parallels the generation of new nuclear pore complexes. These authors report data that suggest new mechanisms for linking nuclear division and transport.

Cellular memory of acquired stress resistance in Saccharomyces cerevisiae, pp. 495505 Qiaoning Guan, Suraiya Haroon, Diego Gonzlez Bravo, Jessica L. Will, and Audrey P. Gasch Cells can retain memory of prior experiences that influence future behaviors. Here, the authors show that budding yeast retains a multifaceted memory of prior stress treatment. Cells pretreated with salt retain peroxide tolerance for several generations after removal of the initial stressor. This is due to long-lived catalase, produced during salt treatment and distributed to daughter cells. These cells also display transcriptional memory dependent on the nuclear pore subunit Nup42 that functions to promote reacquisition of stress tolerance in future stress cycles.

Genomic variation in natural populations of Drosophila melanogaster, pp. 533598 Charles H. Langley, Kristian Stevens, Charis Cardeno, Yuh Chwen G. Lee, Daniel R. Schrider, John E. Pool, Sasha A. Langley, Charlyn Suarez, Russell B. Corbett-Detig, Bryan Kolaczkowski, Shu Fang, Phillip M. Nista, Alisha K. Holloway, Andrew D. Kern, Colin N. Dewey, Yun S. Song, Matthew W. Hahn, and David J. Begun This article greatly extends studies of population genetic variation in natural populations of Drosophila melanogaster, which have played an important role in the development of evolutionary theory. The authors describe genome sequences of 43 individuals taken from two natural populations of D. melanogaster. The genetic polymorphism, divergence, and copy-number variation revealed in these data are presented at several scales, providing unprecedented insight into forces shaping genome polymorphism and divergence.

Estimating allele age and selection coefficient from time-serial data, pp. 599607 Anna-Sapfo Malaspinas, Orestis Malaspinas, Steven N. Evans, and Montgomery Slatkin The relative importance of the four fundamental processes driving evolutiongenetic drift, natural selection, migration, and mutationremains undetermined. These authors propose a new approach to estimate the selection coefficient and the allele age of time serial data. They apply their methodology to ancient sequences of a horse coat color gene and demonstrate that the causative allele existed as a rare segregating variant prior to domestication. This illuminates the debate on the relative importance of new vs. standing variation in adaptation and domestication. DNA replication origin function is promoted by H3K4 di-methylation in Saccharomyces cerevisiae, pp. 371384 Lindsay F. Rizzardi, Elizabeth S. Dorn, Brian D. Strahl, and Jeanette Gowen Cook What defines a DNA replication origin? It is becoming increasingly apparent that post-translational modifications of nucleosomes near replication origins help mark them and control their activity. The genetic analysis presented in this article implicates di-methylated histone H3 lysine 4 (stimulated by histone H2B monoubiquitination) as part of the definition of active replication origins. Since these histone modifications are highly conserved, these findings are relevant to genome organization in other eukaryotes.

Comparative oncogenomics implicates the Neurofibromin 1 gene (NF1) as a breast cancer driver, pp. 385396 Marsha D. Wallace, Adam D. Pfefferle, Lishuang Shen, Adrian J. McNairn, Ethan G. Cerami, Barbara L. Fallon, Vera D. Rinaldi, Teresa L. Southard, Charles M. Perou, and John C. Schimenti This study of a mouse model of genomic instability indicates that NF1 (Neurofibromin 1) deficiency can drive breast cancer. ~ 63,000 people in the United States annually will develop breast cancer with an NF1 deficiency. Together with evidence that NF1 depletion confers resistance of human breast cancer cells to tamoxifen, these findings suggest therapeutic strategies for patients with NF1-deleted tumors.

ABOUT GENETICS: Since 1916, GENETICS (http://www.genetics.org/) has covered high quality, original research on a range of topics bearing on inheritance, including population and evolutionary genetics, complex traits, developmental and behavioral genetics, cellular genetics, gene expression, genome integrity and transmission, and genome and systems biology. GENETICS, a peer-reviewed, peer-edited journal of the Genetics Society of America is one of the world's most cited journals in genetics and heredity.

See the rest here:
GENETICS Journal Highlights for October 2012

Recommendation and review posted by Bethany Smith

Consumer Genetics Conference 2012 Kicks Off This Week in Boston Featuring Preeminent Leaders in Industry, Academia, Medicine and Government to Examine Advancements, Applications, Issues and Challenges in Personal Genomics and 21st Century Healthcare

~Harvards Professor of Genetics George Church to Discuss his New Book During Keynote~ ~X PRIZE Foundation Special Announcement on Day One~ ~Three Days of Presentations, Panel Discussions and Lively Interchange at this Highly Interactive and Unique Forum Expected To Help Shape and Guide This Emerging Industry ~

Newswise Boston, MA, October 1, 2012 -- The 4th Annual Consumer Genetics Conference takes place this week, October 3-5 at the Boston Seaport Hotel. This unique interactive forum, will highlight three major themes regarding this burgeoning industry: Technology (Day 1), Business & Translation (Day 2) and Applications (Day 3). Presentations will specifically cover a variety of topics including: personal genomics, next and third generation sequencing, molecular diagnostics, industry funding and investment, and the current and future applications of genomics in clinical practices and as well as in nutrition, food genetics and cosmetics.

Along with program presentations and panel sessions, there are several notable keynote addresses and a few major news announcements: Day One will open with Lee Silver, Professor of Molecular Biology and Public Affairs of Princeton University presenting: Self-Discovery in the Age of personal Genomics (8:45 a.m.). This presentation will explore how consumer genetics has blossomed from infancy to adolescence with an array of consumer-facing products. It will also examine how this cottage industry is still struggling with growing pains as it faces a mix of regulators, restless innovators, and demanding and empowered patients.

Day One will also highlight: A keynote by George Church, Professor of Genetics and Director of the Center for Computational Genetics at Harvard Medical School and Father of the Personal Genome Project, will be given at the close of Day One (5:20 p.m.) with Professor Church providing a candid assessment of new sequencing technologies, current trends in personal genomics and projections on the future path of genomics in medicine. This address will come in the wake of his new book launch: Regenesis: How Synthetic Biology Will Reinvent Nature and Ourselves. Professor Church will be available for conversations and interviews following his presentation. A welcome reception will take place at 6:00 p.m.

There will also be a special X PRIZE Foundation announcement at the Consumer Genetics Conference about the Archon Genomics X PRIZE presented by Express Scripts in the afternoon at the Conference on October 3rd. This announcement will be consistent with X Prizes overall mission which is to bring about radical breakthroughs for the benefit of humanity. In this case, the news is expected to usher in a new era of personalized medicine through whole genome sequencing. [More information can be obtained by contacting Grant Company, Senior Director & Prize Lead for the Genomics X PRIZE, who will be in attendance at the conference in Boston.]

The featured presentation on Day 2 will be delivered by Marc Salit, Group Leader, National Institute of Standards and Technology, where he will present: Genome-in-a Bottle: Reference Materials and Methods for Confidence in Whole Genome Sequencing. In this presentation, he will explore the need for reference materials, methods and data to measure results for sound, reproducible research and regulated applications of whole genomic sequencing in the clinic.

Also on Day Two there will be two notable panel presentations: VC and Investment Banking panel (10:45 a.m.) focused on the corporate criteria they look for when funding companies involved in genomics, and the metrics that guide their decisions. A Physicians Perspective on deploying genomics and sequencing data in preventative and clinical care (1:45 p.m.)

On Day 3, the keynote will be presented by Kenneth Chahine of Ancestry.com, which has the worlds largest online resource for family history with an extensive collection of over 10 billion historical records. This keynote will focus on their new direct-to-consumer genealogical DNA test that delivers (i) prediction of identity-by-descent and a test that allows customers to find genetic relatives , and (ii) the individuals admixture to provide a predicted genetic ethnicity.

Highlights on Day Three will also include:

More here:
Consumer Genetics Conference 2012 Kicks Off This Week in Boston

Recommendation and review posted by Bethany Smith

Public release date: 1-Oct-2012 [ | E-mail | Share ]

Contact: Phyllis Edelman pedelman@genetics-gsa.org 301-634-7302 Genetics Society of America

Bethesda, MDOctober 1, 2012 Listed below are the selected highlights for the October 2012 issue of the Genetics Society of America's journal, GENETICS. The October issue is available online at http://www.genetics.org/content/current. Please credit GENETICS, Vol. 192, October 2012, Copyright 2012.

Please feel free to forward to colleagues who may be interested in these articles.

ISSUE HIGHLIGHTS

Energy-dependent modulation of glucagon-like signaling in Drosophila via the AMP-activated protein kinase, pp. 457 Jason T. Braco, Emily L. Gillespie, Gregory E. Alberto, Jay E. Brenman, and Erik C. Johnson How organisms maintain energetic homeostasis is unclear. These authors show that the actions of a known cellular sensor of energythe AMP-activated protein kinase (AMPK)cause release of a glucagon-like hormone in Drosophila. They further show that AMPK regulates secretion of adipokinetic hormone. This suggests new roles and targets for AMPK and suggests metabolic networks are organized similarly throughout Metazoa.

The relation of codon bias to tissue-specific gene expression in Arabidopsis thaliana, pp. 641 Salvatore Camiolo, Lorenzo Farina, and Andrea Porceddu This article reports systematic differences in usage of synonymous codons in Arabidopsis thaliana genes whose expression is tissue specific. The authors propose that codon bias evolves as an adaptive response to the different abundances of tRNAs in different tissues.

Integrity and function of the Saccharomyces cerevisiae spindle pole body depends on connections between the membrane proteins Ndc1, Rtn1, and Yop1, pp. 441 Amanda K. Casey, T. Renee Dawson, Jingjing Chen, Jennifer M. Friederichs, Sue L. Jaspersen, and Susan R. Wente Budding yeast face an unusual challenge during cell division: they must segregate their chromosomes while the nuclear envelope remains intact. Consequently, mitosis begins with insertion of the duplicated spindle pole body (a.k.a. centrosome) into the nuclear envelope, a process that parallels the generation of new nuclear pore complexes. These authors report data that suggest new mechanisms for linking nuclear division and transport.

Cellular memory of acquired stress resistance in Saccharomyces cerevisiae, pp. 495 Qiaoning Guan, Suraiya Haroon, Diego Gonzlez Bravo, Jessica L. Will, and Audrey P. Gasch Cells can retain memory of prior experiences that influence future behaviors. Here, the authors show that budding yeast retains a multifaceted memory of prior stress treatment. Cells pretreated with salt retain peroxide tolerance for several generations after removal of the initial stressor. This is due to long-lived catalase, produced during salt treatment and distributed to daughter cells. These cells also display transcriptional memory dependent on the nuclear pore subunit Nup42 that functions to promote reacquisition of stress tolerance in future stress cycles.

Genomic variation in natural populations of Drosophila melanogaster, pp. 533 Charles H. Langley, Kristian Stevens, Charis Cardeno, Yuh Chwen G. Lee, Daniel R. Schrider, John E. Pool, Sasha A. Langley, Charlyn Suarez, Russell B. Corbett-Detig, Bryan Kolaczkowski, Shu Fang, Phillip M. Nista, Alisha K. Holloway, Andrew D. Kern, Colin N. Dewey, Yun S. Song, Matthew W. Hahn, and David J. Begun This article greatly extends studies of population genetic variation in natural populations of Drosophila melanogaster, which have played an important role in the development of evolutionary theory. The authors describe genome sequences of 43 individuals taken from two natural populations of D. melanogaster. The genetic polymorphism, divergence, and copy-number variation revealed in these data are presented at several scales, providing unprecedented insight into forces shaping genome polymorphism and divergence.

See the article here:
Genetics Society of America's GENETICS journal highlights for October 2012

Recommendation and review posted by Bethany Smith

SMi is delighted to welcome: Carlos Camozzi, Vice President & Chief Medical Officer at uniQure, to their inaugural Orphan Drugs & Rare Diseases conference taking place next week on 8th & 9th October 2012 in London. Dr. Camozzi will be joining leading leaders in gene therapy and rare diseases.

(PRWEB UK) 1 October 2012

Jrn Aldag, chief executive of UniQure, says that the announcement from the EMA is an overdue signal to the gene-therapy community that things are changing. It unlocks the potential, he says, quoted in Nature. You will see more investment coming.*

Perhaps as important is UniQures pioneering annuity approach to reimbursement, staggering payments over the five years for which treatment has been proved to work. As highlighted by the Financial Times, such financial innovation may prove as important as the scientific breakthroughs that led to the treatment in the first place**.

Other keynote speakers presenting at this outstanding event include:

Visit http://www.smi-online.co.uk/goto/orphandrugs-event38.asp to secure your place now!

Alternatively, contact Alternatively Contact Fateja Begum on telephone +44 (0) 20 7827 6184 or email on fbegum@smi-online.co.uk

** Healthcare: Uncommon complaints. Financial Times, July 25th, 2012, p.9.

About SMi Group

The SMi Group is a world leader in business to business information. With nearly two decades in the business, thousands of senior executives from blue chip companies have already benefitted from SMis highly targeted conferences, workshops and publications. For more information visit:

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Orphan Drugs & Rare Diseases conference

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

Advanced Cell Technology, Inc. (ACT; OTCBB: ACTC), a leader in the field of regenerative medicine, announced today that its chief scientific officer, Robert Lanza, M.D. and Anthony Atala, M.D., W.H. Boyce Professor and Director of the Wake Forest Institute for Regenerative Medicine, have released the second edition of Handbook of Stem Cells (Academic Press/Elsevier), the widely-recognized definitive resource in the field of stem cells. It includes a Forward by Professor Sir Martin Evans, Ph.D., FRS, co-winner of the Nobel Prize for Physiology or Medicine in 2007. Sir Martin is credited with discovering embryonic stem cells and is considered one of the chief architects of the field of stem cell research. The two-volume set also includes contributions from dozens of stem cell pioneers, including James Thomson, Shinya Yamanaka, Doug Melton, Janet Rossant, and Robert Langer (a member of ACTs board of directors), among others, as well as patient advocate Mary Tyler Moore.

Handbook of Stem Cells, Second Edition follows a very successful edition published in 2004. The first edition was the first comprehensive body of work dedicated entirely to the stem cell field. The two-volume set quickly became the most relevant textbook in the stem cell arena. Now, several years later, major advances have occurred, with entirely new classes of stem cells being described. The description of induced pluripotent cells in the last few years brought many more avenues of research and discovery. In 2012, the first paper reporting results of two patients treated with human embryonic stem cells was published by ACT and its collaborators. It might seem that we have waited too long to finally see pluripotent stem cells in the clinic. However, this has been accomplished with incredible speed when it is considered that hESCs were first isolated just 14 years ago. Handbook of Stem Cells integrates this exciting area, combining in two volumes the requisites for a general understanding of both adult and embryonic stem cells. Organized in two volumes, Pluripotent Stem Cells and Adult & Fetal Stem Cells, this work contains contributions from the world's experts in stem cell research to provide a description of the tools, methods, and experimental protocols needed to study and characterize stem cells and progenitor populations as well as a the latest information of what is known about each specific organ system.

The Handbook of Stem Cells, edited by Robert Lanza and colleagues, is an ambitious new text that achieves extraordinary completeness and inclusiveness, wrote Steve Goldman of University of Rochester Medical Center in NATURE CELL BIOLOGY about the first edition. [...] the editors have succeeded in putting together a reference that is broad enough in scope, but sufficiently detailed and rigorous, to be of real interest to both new and seasoned investigators in the field [...] In providing this treatise, which covers the history, biology, methods and applications of stem cells, the editors and authors have succeeded in establishing a conceptual framework and a common language for the field. In so doing, they have ensured that this two-volume set will serve as a benchmark reference in stem cell biology for years to come.

Writing about the first edition in the Times Higher Education Supplement, Ian Wilmut added, These books make an invaluable contribution to the education of researchers and clinicians both of the present day and of the future. They should be available in libraries of all biology and medical schools as well as those of companies and research institutions.

About Advanced Cell Technology, Inc.

Advanced Cell Technology, Inc., is a biotechnology company applying cellular technology in the field of regenerative medicine. For more information, visit http://www.advancedcell.com.

Forward-Looking Statements

Statements in this news release regarding future financial and operating results, future growth in research and development programs, potential applications of our technology, opportunities for the company and any other statements about the future expectations, beliefs, goals, plans, or prospects expressed by management constitute forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Any statements that are not statements of historical fact (including statements containing the words will, believes, plans, anticipates, expects, estimates, and similar expressions) should also be considered to be forward-looking statements. There are a number of important factors that could cause actual results or events to differ materially from those indicated by such forward-looking statements, including: limited operating history, need for future capital, risks inherent in the development and commercialization of potential products, protection of our intellectual property, and economic conditions generally. Additional information on potential factors that could affect our results and other risks and uncertainties are detailed from time to time in the companys periodic reports, including the report on Form 10-K for the year ended December 31, 2011. Forward-looking statements are based on the beliefs, opinions, and expectations of the companys management at the time they are made, and the company does not assume any obligation to update its forward-looking statements if those beliefs, opinions, expectations, or other circumstances should change. Forward-looking statements are based on the beliefs, opinions, and expectations of the companys management at the time they are made, and the company does not assume any obligation to update its forward-looking statements if those beliefs, opinions, expectations, or other circumstances should change. There can be no assurance that the Companys clinical trials will be successful.

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New Edition of Definitive (Two-Volume) Resource in Stem Cells Released Today

Recommendation and review posted by simmons

SAN DIEGO--(BUSINESS WIRE)--

Medistem Inc (Pink Sheets:MEDS) announced today the initiation of a collaboration with Superview Biotechnology Co. Ltd, a subsidiary of Yinhuan Holding Co from Yixing, China. The joint work will be aimed at using proprietary stem cell lines developed by Medistem for screening of monoclonal antibodies for therapeutic activity in the area of regenerative medicine. As part of the collaboration, the two companies will evaluate various candidates jointly, as well as apply for grants and share research data.

To date, the majority of stem cell companies are focusing on the stem cell itself being a product. By collaborating with Superview Biotechnology, we aim to assess the feasibility of developing antibodies that can modulate the activity of stem cells that already exist in the body, said Thomas Ichim, CEO of Medistem. This approach not only provides methods of activating stem cells but also allows for the development of stem cell adjuvant therapies that could be used to resurrect stem cell candidates that failed in clinical trials.

Superview Biotechnology has developed proprietary methods of rapidly generating monoclonal antibodies to esoteric protein targets. Medistem has a history of success in the area of stem cells, being the only company to take a stem cell product from discovery to FDA clearance in the short span of 4 years.

One of the significant driving forces behind our company is to develop innovative targets for our monoclonal antibodies. Although monoclonal antibodies have generated sales of billions of dollars in areas ranging from rheumatoid arthritis, to cancer, to preventing blindness, we feel that the potential of this therapeutic tool is only beginning to be recognized, said Jiong Wu, CEO of Superview Biotechnology. Our opinion is that the barriers to entry for monoclonal antibody-based therapies modulating endogenous stem cells is lower than stem cell based therapies. We are eager to work with the Medistem team at exploring this hypothesis.

A joint grant is expected to be filed with the National Natural Science Foundation of China to support part of the proposed collaboration by end of October, 2012.

Cautionary Statement

This press release does not constitute an offer to sell or a solicitation of an offer to buy any of our securities. This press release may contain certain forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended. Forward-looking statements are inherently subject to risks and uncertainties, some of which cannot be predicted or quantified. Future events and actual results could differ materially from those set forth in, contemplated by, or underlying the forward-looking information. Factors which may cause actual results to differ from our forward-looking statements are discussed in our Form 10-K for the year ended December 31, 2007 as filed with the Securities and Exchange Commission.

Excerpt from:
Medistem and Superview Biotechnology Co. Ltd. Initiate Collaboration on Therapeutics Development Using Antibody and ...

Recommendation and review posted by simmons

By Sharmistha Banerjee - September 25, 2012 | Tickers: NBS, OSIR, PSTI | 0 Comments

Sharmistha is a member of The Motley Fool Blog Network -- entries represent the personal opinions of our bloggers and are not formally edited.

Far-reaching accomplishments in the biotechnology sector meet its most ambitious expectations, stem cell therapy. The birth of this new industry has boosted the enthusiasm and energy of investors and has brought unprecedented capability and optimistic predictions. New developments in regenerative medicine are bringing about exciting, novel approaches to create therapies for hard to treat diseases. The biotechnology industry has been soaring in 2012 as companies both large and small have shown impressive growth.

The cell therapy space has seen relatively small companies making strides in the right direction with increased government support. Osiris Therapeutics (NASDAQ: OSIR) a leading stem cell company is currently the only company with an approved cell therapy. The approval is more of a first step in a long walk for Osiris. Reuters reported that shares of Osiris Therapeutics rose 15% on May 30, 2012, after U.S. health regulators said the stem cell technology company's wound treatment was eligible for reimbursement when used in hospitals in out-patient settings or in ambulances. The company carries over a $300 million market capitalization and trades at $9.50 per share, primarily on the strength of a recent Canadian approval for its stem cell drug for graft-versus-host disease. Osiris Therapeutics has a 1-year low of $4.12 and a 1-year high of $14.46. The company has a market cap of $311.3 million and a price-to-earnings ratio of 90.98. Investors are impressed and optimistic with Osiris progress in cell-based therapies. They currently have a $9.75 target price on the stock. Despite having to negotiate a more challenging regulation process the company has continued to show investors strong gains in 2012.With a current ratio of 8.51 and debt equity of (0.00%) the company boasts of a financially secure position in the market.

Pluristem Therapeutics (NASDAQ: PSTI) a small firm with a market cap of less than $180 million has been concentrating on its placenta-based cell therapies, is considered one of the more advanced in the cell therapy arena, and unlike OSIR, its lead candidates treat diseases that could potentially return significant revenue. The upside for PSTI is lower costs, quicker healing time, ease of administration, and most importantly, it can grow vessels and provide the possibility of a cure, which has led to optimism surrounding the stock. Shares of Pluristem Therapeutics are up over 3.98% and most likely headed higher in the days ahead. It has traded higher by 85% during the last three months and is now valued at $200 million. Pluristem may actually beat OSIR in the race to become the first U.S. approved cell therapy with its bone marrow therapy, in which it has recently applied for approval. Pluristem is a company that I think is showing great promise. From the stock's action in the last several months, it is clear investors recognize that Pluristem's unique platform technology has the potential for tremendous value in a lucrative range of medical markets both the very large and the very small. The company wins both ways. Its clinical segment is creating candidates with large revenue potential, with analysts projecting peak sales of $700 million for AMR-001, which treats patients following acute myocardial infarction. The company is reasonably well funded with around $42 million in cash and cash equivalents.

NeoStem (NYSEMKT: NBS) is by far the leader in regards to the manufacturing business, and no other company comes close. In addition, its stock has returned the most over in the last three months, with a 100% gain. NeoStem stocks looks promising as a biotechnology investment. First, the company is focusing on several promising areas of new stem cell treatment development. Second, its contract manufacturing business brings in revenues to offset some of its drug development expenditures. Third, the contract manufacturing business could earn substantial royalties if any of the products on which it works with customers proves to be a commercial success. NeoStem's manufacturing segment which is also known as PCT, is well positioned to return larger gains over the next 24 months with several late stage candidates under development. a $110 million company that has increased in value by 70% during the last three months, In addition to the PCT business, NeoStem's most promising therapy is aimed at preventing major cardiac problems following acute myocardial infarction (AMI), an area that is potentially a multibillion-dollar business. NeoStem's therapy is meeting endpoints never before reached,

The three companies discussed above are showing much potential for growth and each present a significant upward shift in the current stock prices while contributing greatly to the advances of cell therapy.

Osiris is the closest to generating substantial revenue by already having two approvals, and is currently testing its therapy on other diseases, thereby leaving open the possibility of future gains. Pluristem has candidates to treat diseases in potentially large markets, and is expanding with its manufacturing facility. Although Stem Cells is in the early phases of development, it still has a very innovating therapy that, if proven effective, could advance the space even further. NeoStem possesses all the benefits of an innovating technology, a diversified pipeline, and is a candidate with significant revenue potential.

At this point, it appears that the entire space is moving forward and has lifted observers' expectations by making rapid progress. It makes sense that these three stocks would trade with such considerable gains, as investors can now identify the benefits of cell therapies. And as more approvals occur, it could be a space that trades considerably higher regardless of the market's indecisiveness. With the sector growing and maturing, investing in biotech stocks seems a promising choice in future.

SharmisthaB has no positions in the stocks mentioned above. The Motley Fool has no positions in the stocks mentioned above. Try any of our Foolish newsletter services free for 30 days. We Fools may not all hold the same opinions, but we all believe that considering a diverse range of insights makes us better investors. The Motley Fool has a disclosure policy.If you have questions about this post or the Fools blog network, click here for information.

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Stem Cell Therapy—Breakthrough in Health Paradigm

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DENVER--(BUSINESS WIRE)--

MPEG LA announced today that Librassay, a landmark collaboration with the National Institutes of Health (NIH) and other leading healthcare innovators (listed below), is now providing one-stop worldwide access to diagnostic discoveries for personalized medicine.

Uncertainties surrounding access to patented technologies have imperiled healthcare advances, said Larry Horn, MPEG LA President and CEO. Just as MPEG LAs origination of patent pools provided a market-based solution for accessing consumer electronics, video and information technologies, now MPEG LAs Librassay introduces a similar solution to the healthcare market with the potential for profound cost savings and quality of life benefits. We applaud the pioneering foresight and efforts of the worlds leading research institutions demonstrating a commitment to their understanding that making world class medical technology widely available is as important as inventing it.

The NIHs policy is to disseminate its technologies as broadly as possible to promote commercialization and improve public health, stated Mark Rohrbaugh, Director of the NIH Office of Technology Transfer. This agreement promotes our policy by permitting MPEG LA and Librassay to pool patented technologies contributed by NIH with complementary technologies from other sources, and to grant non-exclusive, commercial licenses from the pool for in vitro diagnostics and personalized medicine.

Before Librassay, obtaining licenses to medical diagnostic inventions was an ordeal, added Kristin Neuman, Librassay Executive Director. Now Librassay offers one place where diagnostic developers and service providers can obtain assured and affordable access to patent rights, and patent holders have the opportunity for wider adoption of their technologies in combination with others, reasonable compensation for their research investments and the incentive to invest more.

Initial contributors to Librassay include

Starting with some 400 patents, Librassay makes worldwide medical diagnostic patent rights from the worlds leading research institutions available to everyone through a one-stop license. Librassay is expected to be of particular benefit in connection with emerging multiplexed diagnostic tests for disease and other health conditions, including whole genome sequencing, for which patent rights belonging to many different parties may be needed.

MPEG LA welcomes other patent holders to join Librassay. For information, please go to LicensorInfo-Librassay@mpegla.com.

To access the on-line Librassay store, or request a copy of the Librassay Patent Portfolio License, please go to http://www.librassay.com.

MPEG LA, LLC

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MPEG LA’s Librassay® Removes Patent Barriers to Diagnostics for Personalized Medicine

Recommendation and review posted by sam