Archive for the ‘Gene Therapy Research’ Category

By Elizabeth Landau

(CNN) Genome sequencing is rapidly changing modern medicine, and a new study shows its potential impact on seriously ill newborn babies.

New research published in the journal Science Translational Medicine this week makes the case for a two-day whole-genome sequencing for newborns in a neonatal intensive care unit (NICU).

After 50 hours, the test delivers to doctors a wealth of information about what could be causing newborns life-threatening illnesses. This would allow them to more efficiently and quickly tailor therapies to the babies, when possible, and identify problematic genetic variants that multiple family members may share.

We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine thats influenced by genomes, said Stephen Kingsmore, the studys senior author and director for the Center for Pediatric Genomic Medicine at Childrens Mercy Hospitals and Clinics in Kansas City, Missouri, at a press conference Tuesday.

There are more than 3,500 diseases caused by a mutation in a single gene, Kingsmore said, and only about 500 have treatments. About one in 20 babies born in the United States annually gets admitted to a neonatal intensive care unit, he said. Genetic-driven illnesses are a leading cause of these admissions at Kingsmores hospital.

One example of how a genetic test would help newborns is a condition called severe Pompe disease, Kingsmore said. Children with this disorder die if they are not treated by age 1. They will live longer, at least four years, if they receive an enzyme replacement therapy.

The study shows how two software programs, called SAGA and RUNE, work together to help physicians pinpoint the genes that could be causing problems in the children. A company called Illumina developed a rapid genome sequencing device that incorporates the programs.

Researchers reported diagnoses as a result of this genetic test in the study for six children. Two of these tests were done retrospectively, after the children had died.

The test extends beyond the ill baby; genome sequencing can also identify genetic traits in multiple family members, the researchers said. Carol Saunders, the studys lead author, explained at the news conference how one baby and his 6-year-old brother both have a congenital heart defect and heterotaxy, meaning some internal organs are located on the wrong side of the body.

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Newborns may benefit from fast genetic test

PALM BEACH, Fla.--(BUSINESS WIRE)--

Genetics Policy Institute (GPI) announced today that Bernard Siegel, Executive Director of GPI, will make two keynote presentations this month at regional conferences: Midwest Conference on Stem Cell Biology and Therapy October 5-7 in Rochester, Michigan and BioFlorida Conference 2012 October 7-9 in Miami, Florida.

Siegel will present a keynote address titled The Power of Advocacy at the Midwest Conference on Stem Cell Biology and Therapy. The Genetics Policy Institute joined with the Oakland University William Beaumont Institute for Stem Cell and Regenerative Medicine (ISCRM) as a collaborating partner for the event. Researchers from hospitals, medical organizations, academic institutions and the business community throughout the Midwest will discuss not only the latest advances in this rapidly expanding field of medical science, but the ethical and moral issues that surround it.

"I am pleased to participate in these important conferences, which showcase the latest scientific developments in their respective regions and beyond. ISCRM and the World Stem Cell Summit have a strong connection, as the Institute was officially launched at our 2010 Summit in Detroit, said Bernard Siegel, GPI's Executive Director and founder of the annual World Stem Cell Summit.

BioFloridas 15th annual Conference is the premier event for Floridas bioscience community. This years meeting will bring together more than 500 professionals from across Florida, the Southeast and the nation to discuss major trends and issues, including topics related to product development, scientific research, business development, financing and public policy.

Siegels keynote address at BioFlorida is titled: The Mandate to Deliver Cures: Aligning Patient Advocacy, Industry and Science. Former Governor Jeb Bush will deliver the second keynote at BioFloridas annual Conference.

The 2012 World Stem Cell Summit is in West Palm Beach, Florida this December, so we have been working closely with the biotechnology community here. I am delighted to partner with BioFlorida as they advance Floridas bioscience industry," said Siegel, who also serves on the Executive Committee of the Alliance for Regenerative Medicine and Board of the Coalition for Advancement of Medical Research. He serves as spokesperson for the Stem Cell Action Coalition.

ABOUT GPI:The Genetics Policy Institute (GPI) supports stem cell research to develop therapeutics and cures. GPI pursues its mission by honoring leadership through the Stem Cell Action Awards, producing the World Stem Cell Summit, publishing theWorld Stem Cell Report, organizing educational initiatives and fostering strategic collaborations. For more information, visitwww.genpol.org.

ABOUT THE WORLD STEM CELL SUMMIT:The 2012 World Stem Cell Summit is presented by GPI and is co-organized by the Interdisciplinary Stem Cell Institute (ISCI) at the University of Miami Miller School of Medicine, Diabetes Research Institute, Beckman Research Institute at City of Hope, Karolinska Institute (home of the Nobel Prize in Physiology and Medicine), International Translational Regenerative Medicine Center (ITRC) and the Institute for Integrated Cell-Material Sciences (iCeMS) at Kyoto University. The Summit is the flagship meeting of the world stem cell community. The 2012 Summit will be held at the Palm Beach County Convention Center in West Palm Beach, Florida, December 3-5, 2012. For more information, visit http://www.worldstemcellsummit.com.

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Bernard Siegel to Deliver Keynote Addresses at Midwest Conference on Stem Cell Biology and Therapy and BioFlorida ...

REYKJAVIK, Iceland, October 4, 2012 /PRNewswire/ --

ORF Genetics announced today that the company has added endotoxin- and animal-free human Fibroblast Growth Factor Basic (FGF basic) and mouse Leukemia Inhibitory Factor (mouse LIF) to its portfolio of growth factors for stem cell research.

Most growth factors applied in stem cell research today are made in E. coli bacteria, which produce endotoxins that can have adverse effect on stem cell cultures. Other manufacturers of growth factors have various methods to remove these endotoxins, but traces inevitably remain, which can lead to increased death rate of cells and other suboptimal effects in cell cultures. Other growth factors on the market today are made by animal cells. However, most stem cell researchers prefer to use growth factors of non-animal origin to exclude risks of viral contamination and the inclusion of growth factor homologs.

This has led to a market demand for alternative sources of animal-free growth factors, void of endotoxins. ORF Genetics' unique growth factors are produced in the seeds of the barley plant, which does not produce any endotoxins or other substances toxic to mammalian cells.

FGF basic and mouse LIF are key growth factors for the cultivation of their respective stem cells, i.e. FGF basic for human stem cells and mouse LIF for mouse stem cells. Each protein is used to expand the stem cells' populations before researchers make them differentiate into various cell types, such as heart, liver or neural cells.

"ORF Genetics has built a reputation for offering the first plant-made, endotoxin-free and animal-free growth factor portfolio for stem cell researchers. As we are producing these growth factors in our novel plant expression system ORFEUS, we are very happy to be able to offer these high quality growth factors at more efficient prices than market leaders," said Bjrn rvar, CEO of ORF Genetics.

ORF Genetics is a world leader of plant made growth factors and offers a portfolio of endotoxin- and animal-free growth factors for human stem cell research. The company's production takes place in a biorisk-free production system in barley, bypassing conventional bacteria and animal cell production systems. The cultivation of barley takes place in greenhouses in inert volcanic pumice, using renewable geothermal energy.

For more information please contact:

Dr. Hakon Birgisson, Director of Global Market Development Tel: +354-821-1585 email:hakon.birgisson@orfgenetics.com

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ORF Genetics to Offer endotoxin- and Animal-free FGFb and mLIF for Stem Cell Research

ANN ARBOR, Mich.--(BUSINESS WIRE)--

RetroSense Therapeutics, a biotechnology company dedicated to developing gene therapy approaches to vision restoration welcomes Steven Bramer, PhD to its senior management team as Chief Development Officer.

Dr. Bramer brings a host of high-value skills to the team in drug development, business development, and beyond. As an all-around-athlete having great drug development experience, with an emphasis on ocular therapeutics, he is an outstanding complement to our executive team, stated Sean Ainsworth, CEO and founder of RetroSense Therapeutics.

Dr. Steven Bramer has over 26 years of drug development experience. He has held positions in global companies where he contributed substantially to all stages of development for drugs, biologics, tissues, combination products, and devices. His experience covers a broad range of therapeutic areas, including ophthalmology, and he has dealt extensively with regulatory agencies in the US and abroad. Dr. Bramer has served in leadership roles throughout most of his career, leading departments, teams, and initiatives successfully including his role as the Chief Drug Development Officer at the Foundation Fighting Blindness.

I had the privilege of being introduced to the team at RetroSense while was the Chief Drug Development Officer at the Foundation Fighting Blindness. Of the numerous projects I had the pleasure of evaluating in that role, RetroSenses optogenetic therapy stood out as an excellent opportunity to restore vision. What is unique and promising about this approach is the potential to restore vision in patients who have lost the function of their rods and cones due to a wide variety of causes. I am excited to work with RetroSense to bring this technology to the clinic and ultimately to the patients whose lives have been impacted by vision loss.

Dr. Bramer will play a pivotal role in bringing RetroSenses lead product, RST-001, into the clinic for the treatment of retinal degenerative conditions, such as retinitis pigmentosa and dry age-related macular degeneration.

Dr. Bramer holds an AS degree in Biology from Delhi College, BS degree in Animal Science from Cornell University, and has completed a MS program in Pathology and a Ph.D. in Pharmaceutics from The Ohio State University.

About RetroSense Therapeutics

RetroSense Therapeutics is a biotechnology company developing a game-changing gene therapy to restore vision in patients suffering from blindness due to retinitis pigmentosa (RP) and advanced dry age-related macular degeneration (advanced dry-AMD). There are currently no FDA approved therapies to improve or restore vision in patients with these retinal degenerative conditions. RetroSense is led by a team of seasoned veterans with deep experience in taking products from the discovery stage through to the clinic. For more information about RetroSense, visit http://www.retro-sense.com/.

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RetroSense Therapeutics Welcomes Dr. Steven Bramer as Chief Development Officer

Washington, October 3 (ANI): A team of scientists has shown that mutations in a gene called NF1 are prevalent in more than one-fourth of all noninheritable or spontaneous breast cancers.

The team include scientists from Cornell University, the University of North Carolina, and Memorial Sloan-Kettering Cancer Center in New York.

In mice, NF1 mutations are associated with hyper-activation of a known cancer-driving protein called Ras. While researchers have found earlier evidence that NF1 plays a role in other types of cancer, this latest finding implicates it in breast cancer.

This suggests that the drugs that inhibit Ras activity might prove useful against breast cancers with NF1 mutations.

"As we enter the era of personalized medicine, genomic technologies will be able to determine the molecular causes of a woman's breast cancer," said John Schimenti, Ph.D., a researcher involved in the work from the Center for Vertebrate Genomics at Cornell University College of Veterinary Medicine in Ithaca, New York.

"Our results indicate that attention should be paid to NF1 status in breast cancer patients, and that drug treatment be adjusted accordingly both to reduce the cancer and to avoid less effective treatments," he added.

To make this discovery, scientists analyzed the genome of mammary tumors that arise in a mouse strain prone to genetic instability-whose activity closely resembles the activity in human breast cancer cells-looking for common mutations that drive tumors.

The gene NF1 was missing in 59 out of 60 tumors, with most missing both copies. NF1 is a suppressor of the oncogene Ras, and Ras activity was extremely elevated in these tumors as a consequence of the missing NF1 gene.

Researchers then examined The Cancer Genome Atlas (TCGA) data, finding that NF1 was missing in more than 25 percent of all human breast cancers, and this was associated with a decrease in NF1 gene product levels, which in turn is known to increase Ras activity.

The research was published in the journal GENETICS.(ANI)

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Gene behind many spontaneous breast cancers identified

The University of Geneva Medical School's Emmanouil Dermitzakis led an international team to look at differences in expression quantitative trait loci between men and women in Genome Research. Based on analyses of autosomal eQTLs using data on males and females from four populations sampled through the HapMap study, they determined that some 12 percent to 15 percent of these gene expression-regulating variants show sex-biased function. In some instances regulatory variants differed between males and females. In other cases, the same eQTL seemed to have different effects on expression of the associated gene. "Sex-related effects can impact traits where no sexual dimorphism has been observed," the team concludes. "Given the prominence of sex-biased effects, this study emphasizes the importance of considering each sex separately in genomic studies to uncover new disease and trait variants."

Korean researchers performed RNA sequencing on tumor samples from 87 Korean individuals with lung adenocarcinoma samples for another Genome Research study. For the majority of these cases, they were also able to do transcriptome and exome sequencing analyses on matched normal samples. Coupled with screening tests for a few known driver mutations or fusions in more than 100 other lung tumors, these sequences helped the team track down candidate driver mutations in new and known lung cancer genes. The analysis also identified dozens of gene fusions as well as new lung adenocarcinoma-related alternative splicing events and copy number changes. "The successful discovery of many aberrations in cancer genes, such as somatic mutations, gene fusion, alternative splicing events, and cancer outliers, is most likely due to the strong power and comprehensive nature of whole-transcriptome sequencing," authors of the study say.

In the early online edition of Genome Research, a group led by investigators at the University of Texas MD Anderson Cancer Center outlines findings from a systems biology study of endometrial cancer. After sequencing coding regions 13 tumor-normal pairs, the team brought together mutation data from those exomes with screens and functional studies of endometrial cancer. Together, the approaches uncovered a dozen genes containing mutations suspected to drive development of the cancer. The team went on to more fully characterize one of these genes, an apparent tumor suppressor called ARID1A, using a combination of mutational and proteomic analyses in hundreds more endometrial cancers. "Our study presents the first unbiased view of somatic coding mutations in endometrial cancer," the group writes, "and provides functional evidence for diverse driver genes and mutations in this disease."

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This Week in Genome Research

A new method of genetic testing appears to be able to help doctors diagnose critically ill babies more quickly than ever before, according to a new study.

The method allows doctors for decode a baby's entire genome in two days -- breathtakingly fast compared to current methods that can take six weeks or more.

In the new study, the researchers report using the approach to decode the entire genomes of six acutely ill newborns admitted to neonatal intensive care units, two of whom had already been determined to have genetic diseases. What they found in this proof of concept, they said, could be used in the future to more quickly diagnose sick newborns and treat them early.

The study was published Wednesday in the journal Science Translational Medicine.

"We think that we have come up with a solution for the tragic families who have a baby who's born and the doctors are not sure of what the cause of the baby's illness is," said the study's senior author, Dr. Stephen F. Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospitals and Clinics in Kansas City, Mo.

Many of the 3,500 known genetic diseases cause medical problems during the first month of life, the researchers wrote in their study. In the United States, over 20 percent of infant deaths are caused by genetic disorders and birth defects.

"Up to one third of babies admitted to a neonatal intensive care unit in the United States have genetic diseases," Kingsmore said, adding that babies with genetic problems often die or are sent home before a diagnosis is made.

For families coping with the tragedy of a sick newborn, the test may make a big difference.

"The family doesn't know what's going on," Kingsmore said. "The doctors are working heroically to figure out what's wrong. That can go on for weeks."

Armed with an early genetic diagnosis, Kingsmore said that doctors can communicate more clearly with the family.

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Fast Gene Screen May Help Sick Babies

MONDAY, Oct. 1 (HealthDay News) -- Researchers who have identified a genetic mutation that causes deafness say that the findings could one day lead to the development of new treatments for those at risk for a certain type of hearing loss.

In their new study, scientists at the University of Cincinnati and Cincinnati Children's Hospital Medical Center reported that the gene is associated with hearing loss stemming from Usher syndrome type 1, a condition that also causes night-blindness and a loss of peripheral vision due to retinal degeneration, as well as some cases of hearing loss not associated with the syndrome ("non-syndromic deafness").

"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," lead investigator Zubair Ahmed, an assistant professor of ophthalmology who conducts research at Cincinnati Children's, said in a university news release.

Ahmed explained that deafness in Usher syndrome type 1 and non-syndromic hearing loss has been linked with mutations affecting a protein, known as CIB2, which attaches to calcium inside a cell. "To date, mutations affecting CIB2 are the most common and prevalent genetic cause of non-syndromic hearing loss in Pakistan," Ahmed said. "However, we have also found another mutation of the protein that contributes to deafness in Turkish populations."

In animal studies, CIB2 has been found in the hair cells of the inner ear that respond to fluid motion and allow hearing and balance. CIB2 is also found in retinal photoreceptor cells, making vision possible, the researchers noted in the news release.

The new findings provide more insight into mechano-electrical transduction, or the process that enables the ear to convert mechanical energy -- or energy of motion -- into something the brain can recognize as sound, the researchers pointed out.

"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 concluded in the news release.

The study, which also involved researchers from the U.S. National Institute on Deafness and other Communication Disorders (NIDCD), Baylor College of Medicine and the University of Kentucky, was published in the Sept. 30 online edition of Nature Genetics.

It's estimated that 3 to 6 percent of deaf children and 3 to 6 percent of children who are hard-of-hearing have Usher syndrome. In the United States, roughly four out of every 100,000 babies have the syndrome.

-- Mary Elizabeth Dallas

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Researchers Discover Gene Defect Linked to Deafness

Public release date: 3-Oct-2012 [ | E-mail | Share ]

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

New Rochelle, NY, October 3, 2012Making moral judgments is increasingly a central element of the plots of popular video games. Do players of online video games perceive the content and characters as real and thus make moral judgments to avoid feeling guilty? Or does immoral behavior such as violence and theft make the game any more or less enjoyable? The article "Mirrored Morality: An Exploration of Moral Choice in Video Games" published in Cyberpsychology, Behavior, and Social Networking, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers examines these types of questions. The article is available free online on the Cyberpsychology, Behavior, and Social Networking website.

Andrew Weaver and Nicky Lewis, Indiana University, Bloomington, studied how players make moral choices in video games and what effects those choices have on their emotional responses to the games. In general, players tended to make "moral" decisions and to treat game characters as though they were actual people. Although behaving in antisocial ways was associated with greater guilt, it did not affect player enjoyment.

"Although preliminary, these results point to the utility of games as teaching and educational tools, as well as important tools for the assessment of behavior," says Brenda K. Wiederhold, PhD, MBA, BCIA, Editor-in-Chief of Cyberpsychology, Behavior, and Social Networking, from the Interactive Media Institute, San Diego, CA. "These findings indicate how real the virtual world can become when one suspends disbelief and immerses oneself in the scenario."

###

About the Journal

Cyberpsychology, Behavior, and Social Networking is an authoritative peer-reviewed journal published monthly in print and online that explores the psychological and social issues surrounding the Internet and interactive technologies. Complete tables of content and a sample issue may be viewed online on the Cyberpsychology, Behavior, and Social Networking website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Games for Health Journal, Telemedicine and e-Health, and Journal of Child and Adolescent Psychopharmacology. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 70 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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Does moral decision-making in video games mirror the real world?

According to UC Berkeley professor Ignacio Chapela, the passage of Proposition 37 will not only restore the right to choose what foods we put in our bodies, but it may restore scientific process to its rightful placesomething the bioengineering industry, with full assistance from the White House, removed.

"The promises made by genetic engineering have not been fulfilled," explains Chapela, a microbial biologist who was first to exposed the fact that genetically engineered corn was contaminating ancient strains of Mexican maize via cross-pollinating. "Genetic engineering has proven to be wishful thinking, a dream that has failed."

Chapela considers himself fortunate to be able to speak out freely about GMO failings, since so many other scientists have been attacked or threatened or have lost employment for approaching genetic engineering with a critical eye. "I would like to speak for those scientists," says Chapela, "because they cannot." When the first Bush administration instructed federal regulatory bodies to step aside and give the GE industry free reign, Chapela explains, there was no scientific scrutiny allowed.

"It has been very hard to survive as a scientist who is a critical thinker now," Chapela says. "The central dogma embedded in K-12 science textbooks indoctrinates young people to accept that genetic engineering is an inevitable part of life. It says all living things are driven by genes encoded in DNA, and that by manipulating that DNA we can create life, and mix, match and alter it the way we want it." But this isn't the way it actually plays out, says Chapela. "The reality is that genetic engineering is not working, any way you look at it."

What Proposition 37 offers consumers is the promise that all GMO foods will be labeled in California. What it offers scientists is a chance to scrutinize an industry that has intimidated themsometimes to the point of ruining their careersfor questioning the validity of genetic engineering. "The Bush administration decided in the 1980s that genetic engineering was the next wave of economic development for the U.S. and for the world," says Chapela. "We were instructed to look the other way."

Labeling GE foods may help science, which at present cannot investigate whether GE food consumption is related to rises in disease. "We have been sitting here in the dark, forbidden from looking," says Chapela, who believes a GMO-labeling law will give us "the simple capacity to know and to do the science for the first time. I think we deserve it."

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Free Engine

NEW YORK Scanning the DNA of sick infants using a new speed-reading method can diagnose rare genetic disorders in two days instead of weeks, according to research that brings gene mapping a step closer to everyday hospital use.

Researchers at Children's Mercy Hospitals and Clinics in Kansas City, Mo., created software that takes raw data from DNA-scanning machines and combs though hundreds of genetic disorders to detect disease-causing mutations. The system provided likely diagnoses for three of four sick infants in about two days, results published in Science Translational Medicine found.

The new method has the potential to make genome sequencing practical for neonatal-intensive-care units, enabling doctors to diagnose mysterious genetic diseases more quickly, said Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy and a study senior author. Fast diagnoses of sick babies could lead to life-extending treatments sooner in some or help avoid futile, costly therapies in others.

"This is the biggest breakthrough in this technology for clinical applications we have seen in a few years," said David Dimmock, a geneticist at the Medical College of Wisconsin and Children's Hospital of Wisconsin in Milwaukee, who wasn't involved in the study. "The ability to sequence and interpret a genome in less than (a) week is huge."

Dimmock said researchers at his institution were working on a similar fast genome-interpretation system, but hadn't published the results. "They beat us to the punch," he said.

There are about 3,500 known genetic diseases of which 500 have treatments, Kingsmore said. Many of these genetic illnesses hit young children. Roughly 20 percent of infant deaths are caused by genetic conditions, according to the study released Wednesday.

The Children's Mercy Hospital system was made possible in part by a new sequencing machine developed by San Diego-based Illumina that can decode the entire DNA sequence of a person in one day.

This generates a colossal volume of raw data that must be analyzed by expert genetic researchers, a process that previously has taken weeks or months.

That's where the system devised by Children's Mercy researchers comes into play. Kingsmore and his team devised smart software that allows treating doctors to enter a sick baby's symptoms.

The software then matches these reported symptoms to known genetic diseases that have similar symptoms, and scans the baby's genome results for likely harmful mutations in relevant genes.

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New technique provides speedy diagnosis of rare genetic disorders in infants

WASHINGTON (AP) Too often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care.

The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.

Wednesday's study is a tentative first step: Researchers at Children's Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasn't done in time to help most of them.

But the hospital finds the results promising enough that by year's end, it plans to begin routine gene-mapping in its neonatal intensive care unit and may offer testing for babies elsewhere, too while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.

"For the first time, we can actually deliver genome information in time to make a difference," predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine.

Even if the diagnosis is a lethal disease, "the family will at least have an answer. They won't have false hope," he added.

More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. While there are thousands of such diseases from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. And once a baby shows symptoms, fast diagnosis becomes crucial.

Sequencing whole genomes all of a person's DNA can help when it's not clear what gene to suspect. But so far it has been used mainly for research, in part because it takes four to six weeks to complete and is very expensive.

Wednesday, researchers reported that the new process for whole-genome sequencing can take just 50 hours half that time to perform the decoding from a drop of the baby's blood, and the rest to analyze which of the DNA variations uncovered can explain the child's condition.

That's an estimate: The study counted only the time the blood was being decoded or analyzed, not the days needed to ship the blood to Essex, England, home of a speedy new DNA decoding machine made by Illumina, Inc. or to ship back the results for Children's Mercy's computer program to analyze. Kingsmore said the hospital is awaiting arrival of its own decoder, when 50 hours should become the true start-to-finish time.

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Two-day test can spot gene diseases in newborns

Babies with genetic disorders can have their whole genome screened for muations in just two days.

Taylor S. Kennedy/ Getty Images

A faster DNA sequencing machine and streamlined analysis of the results can diagnose genetic disorders in days rather than weeks, as reported today in Science Translational Medicine1.

Up to a third of the babies admitted to neonatal intensive care units have a genetic disease. Although symptoms may be severe, the genetic cause can be hard to pin down. Thousands of genetic diseases have been described, but relatively few tests are available, and even these may detect only the most common mutations.

Whole-genome sequencing could test for many diseases at once, but its cost, the complexity of the results and the turnaround time are prohibitive. In what they hope will be a prototype for other hospitals, a research team led by Stephen Kingsmore at Childrens Mercy Hospital in Kansas City, Missouri, has implemented a much faster, simpler systemfor finding relevant mutations in whole-genome sequences that is designed for physicians without specialized genetic training.

These kinds of innovation will help more hospitals bring sequencing into clinical care, says Richard Gibbs, director of the human genome sequencing centre at Baylor College of Medicine in Houston, Texas. A lot of people are going to realize from this that the future is now.

Sequencing has been used before to pinpoint the cause of mysterious diseases. In 2011, Gibbs led a team that sequenced 14-year-old twins with a neurological movement disorder and found a way to improve their treatment2. In another instance, whole-genome sequencing suggested that a mysterious case of severe inflammatory bowel disease had a genetic cause and could be relieved through a bone marrow transplant3. But both these examples required several weeks and a team of experts to resolve. The Childrens Mercy Hospital plans to offer routine sequencing in the neonatal intensive care unit by the end of the year.

To order a test, physicians will choose terms from pull-down boxes to describe the infant's symptoms. Software then compiles a list of potential suspect genes. After the genome is sequenced, the software hunts for and analyses mutations in only those genes, which allows it to compile a list of possible causative mutations more quickly. The team had early access to a new DNA sequencing machine from sequencing company Illumina, based in San DIego, California, that could generate a whole genome within 25 hours. The entire process, from obtaining consent to preliminary diagnosis, took 50 hours, not counting the time taken to ship DNA samples and computer hard drives between Illumina's lab in the UK, where the DNA sequencing was carried out, and the hospital, where analysis was conducted. Kingsmore estimates that the cost of sequence and analysis is $13,500 per child, including costs to verify variants in a laboratory certified to perform clinical tests.

The research team used the new system to analyse the genomes of five children, including two brothers, with undiagnosed diseases and found definite or likely causative mutations in four of them. The researchers also sequenced portions of the parents genomes to track down which flagged mutations might cause disease. This exercise revealed that some mutations had arisen for the first time in the child. In other cases, recessive disease-causing variants had been inherited by both parents.

Though none of the diagnoses reported in the study affected treatment decisions, simply having a diagnosis can be a huge comfort, says Kingsmore. Physicians can stop doing costly and invasive tests. Families can get genetic counselling for planning future pregnancies. And new disease genes and mutations generate hypotheses for basic research.

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Rapid test pinpoints newborns' genetic diseases in days

KANSAS CITY, Mo., Oct. 3, 2012 /PRNewswire/ --Today investigators at Children's Mercy Hospitals and Clinics in Kansas City reported the first use of whole genome information for diagnosing critically ill infants. As reported in Science Translational Medicine, the team describes STAT-Seq, a whole genome sequencing approach - from blood sample to returning results to a physician - in about 50 hours. Currently, testing even a single gene takes six weeks or more.

Speed of diagnosis is most critical in acute care situations, as in a neonatal intensive care unit (NICU), where medical decision-making is made in hours not weeks. Using STAT-Seq, with consent from parents, the investigators diagnosed acutely ill infants from the hospital's NICU. By casting a broad net over the entire set of about 3,500 genetic diseases, STAT-Seq demonstrates for the first time the potential for genome sequencing to influence therapeutic decisions in the immediate needs of NICU patients.

"Up to one third of babies admitted to a NICU in the U.S. have genetic diseases," said Stephen Kingsmore, M.B. Ch.B., D.Sc., FRCPath, Director of the Center for Pediatric Genomic Medicine at Children's Mercy. "By obtaining an interpreted genome in about two days, physicians can make practical use of diagnostic results to tailor treatments to individual infants and children."

Genetic diseases affect about three percent of children and account for 15 percent of childhood hospitalizations. Treatments are currently available for more than 500 genetic diseases. In about 70 of these, such as infantile Pompe disease and Krabbe disease, initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses.

STAT-Seq uses software that translates physician-entered clinical features in individual patients into a comprehensive set of relevant diseases. Developed at Children's Mercy, this software substantially automates identification of the DNA variations that can explain the child's condition. The team uses Illumina's HiSeq 2500 system, which sequences an entire genome at high coverage in about 25 hours.

Although further research is needed, STAT-Seq also has the potential to offer cost-saving benefits. "By shortening the time-to-diagnosis, we may markedly reduce the number of other tests performed and reduce delays to a diagnosis," said Kingsmore. "Reaching an accurate diagnosis quickly can help to shorten hospitalization and reduce costs and stress for families."

About Children's Mercy Hospitals and Clinics Children's Mercy Hospitals and Clinics, located in Kansas City, Mo., is one of the nation's top pediatric medical centers. The 333-bed hospital provides care for children from birth through the age of 21, and has been ranked by U.S. News & World Report as one of "America's Best Children's Hospitals" and recognized by the American Nurses Credentialing Center with Magnet designation for excellence in nursing services. Its faculty of 600 pediatricians and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists. For more information about Children's Mercy and its research, visit childrensmercy.org or download our mobile phone app CMH4YOU for all phone types. For breaking news and videos, follow us on Twitter, YouTube and Facebook.

About The Center for Pediatric Genomic Medicine at Children's Mercy Hospital The first of its kind in a pediatric setting, The Center for Pediatric Genomic Medicine combines genome, computational and analytical capabilities to bring new diagnostic and treatment options to children with genetic diseases. For more information about STAT-Seq, diagnostic tests and current research, visit http://www.pediatricgenomicmedicine.com.

Melissa Novak Phone: (816) 346-1341 E-mail: mdnovak@cmh.edu

Carin Ganz Phone: (212) 373-6002 E-mail: cganz@golinharris.com

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50-Hour Whole Genome Sequencing Provides Rapid Diagnosis for Children With Genetic Disorders

Medicine appears poised to begin sequencing the entire genetic scripts of newborn babies with serious illnesses, a revolutionary change that was set in motion three years ago when scientists and doctors in Wisconsin used a similar technique to diagnose and treat a young Monona boy with a mysterious illness.

In a study released Wednesday in the journal Science Translational Medicine, researchers at Children's Mercy Hospitals and Clinics in Kansas City report that they used whole genome sequencing to diagnose babies born with serious genetic illnesses. Of the seven cases in which doctors used genome sequencing, six resulted in diagnoses.

Moreover, researchers said a diagnosis can be returned as quickly as 50 hours after a blood sample is taken from a baby, an important finding given that many of the diseases that afflict infants require very rapid treatment. That's much faster than the four to six weeks it had taken previously to go from sequencing to diagnosis.

Doctors at the Kansas City hospital said the test and accompanying analysis cost about $13,500 for each child and could present an appealing cost savings to health insurers. In the United States, thousands of babies each year with serious unknown diseases end up in the neonatal intensive care unit; there, beds cost some $8,000 a night, and total expenses for one child can easily run to $250,000 or more.

"We think this is going to transform the world of neonatology," said Stephen Kingsmore, an author of the new paper and director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospitals and Clinics. Kingsmore said his hospital will be using sequencing routinely for seriously ill newborns by the end of the year and will perform the same service for other hospitals around the country.

"This is a dramatic, even miraculous development," said Philip M. Farrell, former dean of the University of Wisconsin-Madison Medical School. "It's the equivalent of putting a man on the moon as far as I'm concerned."

At Children's Hospital of Wisconsin and the Medical College of Wisconsin, where a similar newborn sequencing program quietly began two months ago, one of the doctors involved read the new paper and declared it "a huge leap forward.

"This is going to revolutionize our ability to take care of kids," added David Dimmock, a pediatric genetics specialist who worked on the team that sequenced young Nic Volker of Monona and crafted the treatment that appears to have saved the boy's life.

"The aim of this is to replace conventional testing with something that is faster and more comprehensive."

While the sequencing of Nic's genes in 2009 was used as a last resort after many other tests had been tried, the technology is now assuming a far more significant role in medicine. The hospital in Kansas City and Children's in Wisconsin are now using sequencing as a "first-line test," one that will save time and money over the current practice in which doctors hunt through a forest of individual tests for different diseases and mutations.

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Genetic sequencing gets faster, cheaper - and routine

A new method of genetic testing appears to be able to help doctors diagnose critically ill babies more quickly than ever before, according to a new study.

The method allows doctors for decode a baby's entire genome in two days -- breathtakingly fast compared to current methods that can take six weeks or more.

In the new study, the researchers report using the approach to decode the entire genomes of six acutely ill newborns admitted to neonatal intensive care units, two of whom had already been determined to have genetic diseases. What they found in this proof of concept, they said, could be used in the future to more quickly diagnose sick newborns and treat them early.

The study was published Wednesday in the journal Science Translational Medicine.

"We think that we have come up with a solution for the tragic families who have a baby who's born and the doctors are not sure of what the cause of the baby's illness is," said the study's senior author, Dr. Stephen F. Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospitals and Clinics in Kansas City, Mo.

Many of the 3,500 known genetic diseases cause medical problems during the first month of life, the researchers wrote in their study. In the United States, over 20 percent of infant deaths are caused by genetic disorders and birth defects.

"Up to one third of babies admitted to a neonatal intensive care unit in the United States have genetic diseases," Kingsmore said, adding that babies with genetic problems often die or are sent home before a diagnosis is made.

For families coping with the tragedy of a sick newborn, the test may make a big difference.

"The family doesn't know what's going on," Kingsmore said. "The doctors are working heroically to figure out what's wrong. That can go on for weeks."

Armed with an early genetic diagnosis, Kingsmore said that doctors can communicate more clearly with the family.

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New, Faster Genetic Screen May Help Sick Babies

For babies born with the rare genetic disorder phenylketonuria (PKU), their bodies are unable to break down a certain amino acid, which can lead to brain damage and seizures. If found early enough, however, PKU is easily treated, and children with the condition can go on to live a normal life. But sometimes, genetic testing for disorders such as this one come too late, and narrow windows of opportunity for treatment can close up for good.

But now, parents and physicians can have answers regarding a babys genetic abnormalities in only a few short days. Researchers from Childrens Mercy Hospitals & Clinics in Kansas City, Mo., have developed a new whole-genome sequencing technology capable of diagnosing genetic disorders in ICU newborns in just 50 hours a significantly less amount of time than the 12 to 14 days needed for current screening techniques.

The ability to diagnose infants in such a short amount of time could help to speed up available treatments as well as provide relief or knowledge to anxious parents.

There are about 500 diseases that can present in a baby for which theres a treatment, Dr. Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Childrens Mercy Hospitals and Clinics and lead author of the study, told FoxNews.com. But for diseases that dont have treatment, this info can still be useful. It gives parents and physicians an answer. You can stop doing additional testing or stop giving futile treatments. Parents can get counseling about whether this can recur in a future child and get advice about how intense treatments can be.

Currently, there are more than 3,500 known genetic disorders conditions caused by a mutation in a single gene and the definitive method diagnose them is to sequence the mutated gene. However, a big problem with gene sequencing up until now has been knowing exactly which gene to sequence, according to the researchers. Each genome contains more than 3.1 billion nucleotides, and of those, three to four million variants exist. In order to diagnose a condition, all of those variants need to be analyzed a task that can take quite a long time.

To speed up this process, Kingsmore, along with fellow Childrens Mercy Hospital researcher Neil Miller, teamed up with the company Illumina a group dedicated to technologies that analyze genetic variations. Having announced in January the Illumina high-speed 2,500 a high-speed sequencing device, the company approached Kingsmore and Miller to develop software that would go hand-in-hand with their new instrument.

That was how SAGA and RUNE were born. After the Illumina high-speed 2,500 sequences the entire genome in less than 30 hours, the software applications then come into play. First, SAGA, which stands for sign-assisted genome analysis, helps physicians to determine which parts of the genome are significant depending on the patients symptoms.

It allows them to click on buttons of symptoms that are corresponding in the baby such as difficulty breathing, etc, Kingsmore said. The computer then matches those particular symptoms and signs to the right parts of the genome and selects of those 3,500 genetic diseases, which ones are appropriate to test. So it allows us to test the variants that are likely to cause a disease.

To determine how effective SAGA was in determining a diagnosis, the researchers used the program on over 500 previously diagnosed cases, and the software was 99 percent accurate in selecting the right gene according to the patients symptoms.

RUNE solves the second part of the puzzle, which is determining how these variants impact the gene in which they occur. Standing for rapid understanding of nucleotide-variant effect, RUNE essentially ranks the order of diseases that are on possibly on target for the variants that were found.

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Test can identify genetic disorders in newborns in days

A new technology can diagnose rare genetic disorders in critically ill newborns within a few days, rather than the weeks that are needed with current methods, researchers say.

The technology involves sequencing the infant's genome, and then using new software to hone in on the genes most likely to be disease culprits.

In a new study, researchers identified the genetic cause of a newborn's illness in three out of four babies tested. The whole process takes about 50 hours, they said.

The speed of the new test is what could make it useful for sick babies in neonatal intensive care units (NICUs), the researchers said. Currently, it can take weeks for doctors to diagnose a genetic disorder in an ill infant, and many babies die before their test results are available, said study researcher Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital in Kansas City.

A faster diagnosis for genetic conditions would allow doctors to provide earlier treatments if there are any or to give parents an earlier warning, and potentially more time together with their child, if the condition is untreatable and fatal, the researchers say.

Doctors already routinely screen newborns for a few genetic disorders that have effective treatments. But these tests look for single genes, rather than at the entire genome. There about 3,500 diseases known to be caused by mutations in a single gene, and 500 of these have some type of treatment available, Kingsmore said.

"By obtaining an interpreted genome in about two days, physicians can make practical use of diagnostic results to tailor treatments to individual infants and children," Kingsmore said.

However, critics point out that the diseases identified by new technology are rare, and extra genetic information is not always helpful. In fact, some are worried the genetic testing could deliver more information than researchers know what to do with.

Diagnosing genetic diseases

To begin a diagnosis with the new technology, the researchers take a drop of the baby's blood so that his or her genome can be sequenced.

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Newborn Genetic Test Catches Rare Diseases Earlier

October 3, 2012

April Flowers for redOrbit.com Your Universe Online

Your intelligence like almost all other traits is a gift from your parents, at least in part. Scientists have known for a long time that intelligence is at least partially inherited through genetics. According to psychological scientist Christopher Chabris, however, it may be some time before researchers can identify the specific genetic roots of intelligence.

A new study from Union College shows that the genes long thought to be linked to intellectual prowess actually appear to have no bearing on ones IQ, complicating scientific endeavors to get to the root of the genetics of intelligence.

An international team of researchers including Harvard economist David Laibson used large data sets that included both intelligence testing and genetic data to examine a dozen genes. In almost every case, the team found that IQ could not be linked to the specific genes that were tested.

In all of our tests we only found one gene that appeared to be associated with intelligence, and it was a very small effect. This does not mean intelligence does not have a genetic component. It means its a lot harder to find the particular genes, or the particular genetic variants, that influence the differences in intelligence, said Chabris. The results of this new study were published online in the journal Psychological Science.

Previous studies of identical and fraternal twins informed and bolstered the notion that intelligence is a heritable trait. This new research validates that conclusion, yet the exact parameters of the genetics of intelligence remain a mystery. The team asserts that the older studies, which picked out specific genes, had flaws because of the technological limits of the time. Those limits prevented researchers from probing more than a few locations in the human genome to find genes that affected intelligence.

We want to emphasize that we are not saying the people who did earlier research in this area were foolish or wrong, Chabris said. They were using the best technology and information they had available. At the time, it was believed that individual genes would have a much larger effect they were expecting to find genes that might each account for several IQ points.

The team says that much more research is needed to determine the exact role that genes play in intelligence.

As is the case with other traits, like height, there are probably thousands of genes and their variants that are associated with intelligence, he said. And there may be other genetic effects beyond the single gene effects. There could be interactions among genes, or interactions between genes and the environment. Our results show that the way researchers have been looking for genes that may be related to intelligence the candidate gene method is fairly likely to result in false positives, so other methods should be used.

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Study Says Genetics Of Intelligence Remains A Riddle, For Now

AMES, Iowa, Oct. 3, 2012 /PRNewswire/ --NewLink Genetics Corporation (NLNK) announces the launching of an open-label, randomized, multi-institutional adaptive design Phase2B/3 study to evaluate efficacy of its tergenpumatucel-L (HyperAcute Lung) product candidate in patients with progressive or relapsed Stage-IIIB/IV non-small cell lung cancer (NSCLC).

The Phase 2B portion of the study will evaluate two dosing schedules for tergenpumatucel-L versus docetaxel and the Phase 3 portion of the study will further assess efficacy of the selected dose against docetaxel. The primary endpoint of the study will be to evaluate survival in second-line therapy for patients with advanced non-small cell (stage IIIB/IV) lung cancer. Secondary objectives include progression free survival, evaluation of tumor response, and immunological response in treated patients.

"We are pleased to move another promising HyperAcute product candidate with encouraging survival data from Phase 2 into advanced-stage studies," commented Dr. Charles Link, Chairman and Chief Executive Officer of NewLink. "Non-small cell lung cancer remains the leading cause of cancer death in the United States."

"Immunotherapies are emerging as one of the most promising next treatment paradigms for cancer patients by allowing the patient's immune system to fight their disease without significant new toxicities. We are excited to participate in this advanced study to evaluate NewLink's innovative HyperAcute Lung immunotherapy in NSCLC," said principal investigator of the study Dr. Ramaswamy Govindan, Professor of Medicine, Co-Director Section of Medical Oncology at the Alvin J Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO.

"This trial design is based on Phase 2 non-small cell lung cancer data presented at the recent ASCO meeting demonstrating 11.2 months median survival in 2nd and 3rd line patients who failed prior treatment. Our correlative immunological data showing 21.9 vs. 7 months survival in certain patients capable of generating IFN-gamma responses versus patients who did not mount this response, suggest patients with the best immune responses may have significantly greater long term overall survival. If these types of data can be confirmed in the new larger, randomized study an important novel therapy will be made available for patients with very limited options. We are delighted to be one of the lead centers," commented principal investigator for the Phase -2 study and Co-PI for the Phase 3 study Dr. John C. Morris, Professor of Medicine, Director of Experimental Therapeutics, Thoracic Cancer and Head & Neck Cancer Programs at University of Cincinnati, Cincinnati, OH.

Although a number of therapies have been approved in lung cancer, the prognoses for patients remain poor. "This study is designed to test the hypothesis that patients treated with HyperAcute immunotherapies may be sensitized to subsequent treatments with chemotherapy while also evaluating whether survival benefits observed in our Phase 2 study can be reproduced in a large controlled Phase 3 study," commented Dr. Nick Vahanian, President, Chief Medical Officer, NewLink Genetics.

Adaptive Study Design

This Phase 2B/3 study will enroll patients having a better baseline immune system status relative to the patient population in the earlier Phase 2 study. In order to be eligible for the study, patients must have Stage IIIB or Stage IV recurrent or treatment refractory non-small cell lung cancer with good performance status (ECOG <2) and no more than one prior chemotherapy failure. A lymphocyte count of >/= 1000/L, platelets >/= 100,000/L, hemoglobin >10.0 gm/dL, albumin >/= 3.0 gm/dL and acceptable hepatic and renal function are required for enrollment.

Two hundred forty (240) patients will be randomized (2:1:1) to receive: Arm 1: Docetaxel 75 mg/m2 intravenously given every 3 weeks for 4 doses; Arm 2a: Tergenpumatucel-L at 300 million cells given by intradermal injection weekly for 11 weeks then every 2 months for 5 additional doses (up to a total of 16 immunizations); Arm 2b: Tergenpumatucel-L at 300 million cells given by intradermal injection every 2 weeks for 6 doses and then every month for 10 additional doses (up to a total of 16 immunizations).

Phase 3 Study Design

Continued here:
NewLink Genetics Launches Adaptive Design Phase 2B/3 Clinical Trial of tergenpumatucel-L Immunotherapy in Patients ...

SALT LAKE CITY, Oct. 3, 2012 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN) today announced that, in support of National Hereditary Breast and Ovarian Cancer (HBOC) Week and National Previvor Day, it has launched an online quiz to help people assess their risk for hereditary cancers. The Hereditary Cancer Quiz is available online at http://www.hereditarycancerquiz.com. In addition, the company is providing financial support toward educational and awareness initiatives to three advocacy organizations-Bright Pink, the National Ovarian Cancer Coalition (NOCC) and Living Beyond Breast Cancer (LBBC).

HBOC Week marks the transition between National Ovarian Cancer Awareness Month and National Breast Cancer Awareness Month and was established by U.S. Congressional resolution in 2010 to raise awareness about hereditary cancer. National Previvor Day raises awareness for those individuals who have a known gene mutation or a strong family history of cancer but have not yet developed cancer.

"Understanding their risk for hereditary cancers, such as breast and ovarian cancer, is critical to helping patients make informed decisions about treatment and prevention. Our hereditary cancer risk quiz empowers patients to understand their family history and provides a framework for an informative discussion with a healthcare professional," said Mark Capone, President, Myriad Genetic Laboratories. "In addition, organizations such as Bright Pink, NOCC and Living Beyond Breast Cancer offer hereditary cancer patients and their families vital support and information in their fight against these diseases, and we are proud to support their efforts."

"Funding from Myriad and our other partner companies assists our organization in offering better and more valuable resources to hereditary cancer patients and their families," said David Barley, Chief Executive Officer, National Ovarian Cancer Coalition. "We are proud to work with Myriad, as they play a major role in the understanding and diagnosis of a person's hereditary risk for cancer."

About Hereditary Cancer

Hereditary cancers, also called inherited cancers, are those caused by genetic mutations that are passed from parent to child. These mutations predispose people to developing a particular type of cancer. Mutations in BRCA1 and BRCA2 genes are the most common cause of hereditary breast and ovarian cancers and can lead to male breast cancer, pancreatic cancer, prostate cancer and others. Women with a BRCA mutation are five times more likely to develop breast cancer than those without the mutation and more than ten times as likely to develop ovarian cancer1. Approximately 7%2 of breast cancer and approximately 14% 3,4,5 of invasive ovarian cancer result from inherited gene mutations.

DNA testing for BRCA mutations is done through a blood or saliva test and can indicate whether a person carries a BRCA gene mutation. Testing is recommended for people with certain personal and/or family history pattern, including:

Myriad Genetics is a pioneer in hereditary cancer testing and offers tests for a variety of hereditary cancer syndromes, including BRACAnalysis(R), which detects mutations in the BRCA1 and BRCA2 genes. This test has become the standard of care in identification of individuals with hereditary breast and ovarian cancer. Nearly one million patients have benefited from Myriad's hereditary cancer testing.

About Myriad Genetics

Myriad Genetics is a leading molecular diagnostic company dedicated to making a difference in patients' lives through the discovery and commercialization of transformative tests to assess a person's risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence. Myriad's portfolio of molecular diagnostic tests are based on an understanding of the role genes play in human disease and were developed with a commitment to improving an individual's decision making process for monitoring and treating disease. Myriad is focused on strategic directives to introduce new products, including companion diagnostics, as well as expanding internationally. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com

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Myriad Genetics Sponsors Cancer Awareness Initiatives in Support of National Hereditary Breast and Ovarian Cancer Week

Newly published obesity research coming out of the University of Alberta has touched upon a possible avenue for obesity reduction.

Jason Dyck, a U of A medical researcher and professor, is the lead researcher for the study, which may be close to finding a new way to combat obesity.

In this study, mice are fed a high-fat, high-sugar diet the type of diet that generally leads to obesity. They then have adiponectin DNA injected into their leg muscles.

Adiponectin, secreted by fat cells, is known to have heart-protective and weight-regulating properties. If fat cells get too large, they no longer secrete normal amounts of the hormone-like substance.

What Dyck and his research team have found is the mice receiving this gene therapy start to produce adiponectin in higher levels, thus exhibiting weight loss.

Regardless of its high fat diet, the mouse is acting like a skinny mouse, Dyck said.

Treating obesity as an illness has raised some eyebrows in the Edmonton community, including radio show host Yukon Jack who said, if being fat is a disease, then playing bingo is a professional sport.

Dyck says this viewpoint probably reflects the majority of opinions about obesity. However, many doctors and medical professonals consider obesity a disease.

But this type of research has broader applications than just exercise-free weight loss. Obesity is closely linked with the loss of insulin sensitivity observed in Type 2 Diabetes.

What we are seeing with this gene therapy is a significant, but modest effect on weight gain. Despite only a slight reduction in weight gain, we are still seeing almost a complete restoration of insulin sensitivity, Dyck said.

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Gene therapy a possible option for obesity

Is gene therapy finally becoming a reality? The European Commission is poised to authorize, for the first time in the Western world, the commercialization of a gene-therapy product. Called Glybera (alipogene tiparvovec), it is designed to treat a rare genetic defect involved in fat metabolism.

Success has been a long time coming. Gene therapy was first administered more than 20 years ago, to a child who had a rare disorder of the immune system called adenosine deaminase (ADA) deficiency. Since then, it has struggled to find its place in medicine amid a roller coaster of successes and setbacks, hype and scepticism that has little precedent in modern times. Although the approval of Glybera is a positive move, it is unlikely to herald a new age of gene therapies not without significant changes to the system. It is no coincidence that no gene therapy has yet been approved in the United States and that no other gene-therapy product is being considered by regulators in Europe.

Here is why. The design, development and manufacture of products such as Glybera a virus engineered to carry a correct copy of the defective gene is complex and done mostly in academic centres. Yet legislation introduced in the past decade in Europe and the United States demands that these products be produced under the same rules that cover conventional drugs, in establishments operated with industry-like standards and certified by government agencies.

This is a formidable challenge for academic centres, which tend to lack the necessary human and financial resources. So why is the development of gene therapy focused there, and not in industry, which seems better suited?

The first reason is the financial uncertainty generated by the complex, confused and poorly harmonized regulatory environment as the history of Glybera shows. At first, the application for its authorization received a negative opinion from two committees at the European Medicines Agency (EMA): the Committee for Advanced Therapies (CAT) and the Committee for Human Medicinal Products for Human Use (CHMP). Only when another body, the Standing Committee of the European Commission, asked the EMA to reconsider the application in a restricted indication did the CHMP eventually recommend approval under exceptional circumstances, requiring post-marketing studies and the set-up of a restricted-access programme. The Dutch firm Amsterdam Molecular Therapeutics, the inventor of Glybera, did not survive the process, and became known as uniQure after refinancing.

Lack of resources is a second reason. For many years, the drug industry stayed away from gene therapy, perceiving it as a dangerous technology of dubious efficacy that was too complex to develop and targeted too small a market.

There are some positive signs, because this last perception, at least, is changing: the industry now recognizes that rare diseases and orphan-drug legislation provide attractive opportunities. Some recombinant proteins and monoclonal antibodies originally developed as orphan drugs have been repurposed for larger indications.

The industry now recognizes that rare diseases and orphan-drug legislation provide attractive opportunities.

An example of how academia and industry could cooperate comes from the recent alliance between the drug giant GlaxoSmithKline (GSK) in London, and the charity-funded San Rafaelle Telethon Institute for Gene Therapy (TIGET) in Milan, Italy. GSK gained an exclusive licence to develop and commercialize the ADA treatment, and will co-develop with TIGET gene therapies for six more genetic diseases. The contribution of public or charity-funded organizations in early development phases lowers the cost and risk of investing in diseases with a tiny market, and gives the industry access to technologies that can be expanded to more profitable applications, thereby repaying the investment and allowing resources to be fed back into rare diseases. Unfortunately, promising therapies for hundreds of orphan diseases are unlikely to attract similar industrial interest.

So, how do we ensure that scientists will continue to develop such treatments? Should they all turn to the hospital exemption, which permits experimental therapies to be manufactured and used under the responsibility of a physician without regulatory supervision?

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Gene therapies need new development models

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

Histogenics, a regenerative medicine company combining cell therapy and tissue engineering technologies to develop highly innovative products for tissue repair and regeneration, announced today that it has been named to the FierceMedicalDevices Fierce 15 list, designating it as one of the leading medical device and diagnostic companies of 2012. FierceMedicalDevicesEditors Mark Hollmer and Damian Garde, in conjunction with Editor-in-Chief John Carroll and Executive Editor Ryan McBride, chose this years winners based on their top management teams, notable financial backing, and promising technologies and market opportunities.

We have worked hard over the past year, securing $49 million in financing and adding key new staff, investors and board members, so that we are now in the position to focus our full attention on continued successful clinical and regulatory execution for NeoCart cartilage regeneration implant, which is currently enrolling patients into the Phase 3 IND clinical study, and the EU regulatory development of our VeriCart cartilage repair scaffold, said Patrick ODonnell, President and Chief Executive Officer of Histogenics. We believe our product candidates have the potential to transform the treatment of cartilage injury with the goal of returning some of the estimated 1.8 million patients each year in the U.S. and E.U. that undergo arthroscopy for knee cartilage defects to their pre-injury level of activity.

Nailing down $49 million in financing in July reinforces the notion that this regenerative medicine company stands out for doing things differently.One example how: The company is well underway enrolling patients in a Phase 3 trial for NeoCart, a cartilage implant that uses a patients own cells to build it before treating cartilage lesions in the knee, said Hollmer.

NeoCart is an autologous neocartilage tissue implant in an ongoing Phase 3 clinical program that utilizes the patients own cells to regenerate cartilage in patients suffering from cartilage lesions in the knee.VeriCart, is a single-step, cell-free collagen scaffold uniquely designed to be used in conjunction with the patients own stem cells to repair small cartilage defects frequently observed in meniscal and anterior cruciate ligament repair procedures. Histogenics is seeking regulatory clearance in the European Union for VeriCart.

An internationally recognized e-newsletter reaching more than 34,000 medical device and diagnostic industry professionals, FierceMedicalDevices provides subscribers with a quick authoritative briefing on the days top stories, with a special focus on clinical studies, FDA/EMEA regulations and post-marketing. Sign up is free at http://www.fiercemedicaldevices.com/signup.

About FierceMarkets

FierceMarkets, a wholly owned subsidiary of Questex Media Group, is a leader in B2B emedia, providing information and marketing services in the telecommunications, life sciences, healthcare, IT, energy, government and finance industries through its portfolio of email newsletters, websites, webinars and live events. Every business day, FierceMarkets wide array of publications reaches more than 1.3 million executives in more than 100 countries.

About Histogenics

Histogenics is a leading regenerative medicine company that combines cell therapy and tissue engineering technologies to develop highly innovative products for tissue repair and regeneration. In May of 2011, Histogenics acquired Israeli cell-therapy company ProChon BioTech. Histogenics flagship products focus on the treatment of active patients suffering from articular cartilage derived pain and immobility. The Company takes an interdisciplinary approach to engineering neocartilage that looks, acts and lasts like hyaline cartilage. It is developing new treatments for sports injuries and other orthopedic conditions, where demand is growing for long-term alternatives to joint replacement. Histogenics has successfully completed Phase 1 and Phase 2 clinical trials in which the NeoCart autologous tissue implants effectiveness is compared to that of standard microfracture surgery. Based in Waltham, Massachusetts, the company is privately held. For more information, visitwww.histogenics.com.

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Histogenics Honored as a 2012 “Fierce 15” Company by FierceMedicalDevices

NEW YORK, Oct. 2, 2012 (GLOBE NEWSWIRE) -- NeoStem, Inc. (NYSE MKT:NBS) ("NeoStem" or the "Company"), an emerging leader in the fast growing cell therapy market, today announced that Company management and management of its subsidiary, Progenitor Cell Therapy ("PCT"), have been invited to present at multiple conferences in October.

RetailInvestorConferences.com

The RedChip 15th Annual Fall Small-Cap Conference

Regenerative Medicine Foundation 2012 Conference

2012 Stem Cell Meeting on the Mesa, 2nd Annual Investor and Partnering Forum

About NeoStem, Inc.

NeoStem, Inc. continues to develop and build on its core capabilities in cell therapy, capitalizing on the paradigm shift that we see occurring in medicine. In particular, we anticipate that cell therapy will have a significant role in the fight against chronic disease and in lessening the economic burden that these diseases pose to modern society. We are emerging as a technology and market leading company in this fast developing cell therapy market. Our multi-faceted business strategy combines a state-of-the-art contract development and manufacturing subsidiary, Progenitor Cell Therapy, LLC ("PCT"), with a medically important cell therapy product development program, enabling near and long-term revenue growth opportunities. We believe this expertise and existing research capabilities and collaborations will enable us to achieve our mission of becoming a premier cell therapy company.

Our contract development and manufacturing service business supports the development of proprietary cell therapy products. NeoStem's most clinically advanced therapeutic, AMR-001, is being developed at Amorcyte, LLC ("Amorcyte"), which we acquired in October 2011. Amorcyte is developing a cell therapy for the treatment of cardiovascular disease and is enrolling patients in a Phase 2 trial to investigate AMR-001's efficacy in preserving heart function after a heart attack. Athelos Corporation ("Athelos"), which is approximately 80%-owned by our subsidiary, PCT, is collaborating with Becton-Dickinson in the early clinical exploration of a T-cell therapy for autoimmune conditions. In addition, pre-clinical assets include our VSELTM Technology platform as well as our mesenchymal stem cell product candidate for regenerative medicine. Our service business and pipeline of proprietary cell therapy products work in concert, giving us a competitive advantage that we believe is unique to the biotechnology and pharmaceutical industries. Supported by an experienced scientific and business management team and a substantial intellectual property estate, we believe we are well positioned to succeed.

For more information on NeoStem, please visit http://www.neostem.com.

Forward-Looking Statements for NeoStem, Inc.

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NeoStem to Present at Multiple Conferences in October