Connie K. Ho for redOrbit.com – Your Universe Online Technology is changing faster than ever. With the click of a button you can send messages to friends, share photos and watch videos. This rapid speed is also being seen in medical technology. A new study found that doctors can quickly diagnose genetic diseases in babies with a simple blood test, allowing doctors to decode the baby’s complete ...
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WASHINGTONToo 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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Public release date: 4-Oct-2012 [ | E-mail | Share ]
Contact: Marjorie Montemayor-Quellenberg mmontemayor-quellenberg@partners.org 617-534-2208 Brigham and Women's Hospital
BOSTON, MAUterine fibroids are the most common type of pelvic tumors in women and are the leading cause of hysterectomy in the United States. Researchers from Brigham and Women's Hospital (BWH) are the first to discover a genetic risk allele (an alternative form of a gene) for uterine fibroids in white women using an unbiased, genome-wide approach. This discovery will pave the way for new screening strategies and treatments for uterine fibroids.
The study will be published online on October 4, 2012 in The American Journal of Human Genetics.
The research team, led by Cynthia Morton, PhD, BWH director of the Center for Uterine Fibroids and senior study author, analyzed genetic data from over 7,000 white women. The researchers detected genetic variants that are significantly associated with uterine fibroid status in a span of three genes including FASN which encodes a protein called FAS (fatty acid synthase).
Moreover, additional studies revealed that FAS protein expression was three times higher in uterine fibroid samples compared to normal myometrial tissue (muscle tissue that forms the uterine wall). Over-expression of FAS protein is found in various types of tumors and is thought to be important for tumor cell survival.
"Our discovery foretells a path to personalized medicine for women who have a genetic basis for development of uterine fibroids," said Morton. "Identification of genetic risk factors may provide valuable insight into medical management."
Study samples used were from various cohort studies, such as the Finding Genes for Fibroids study and the Women's Genome Health Study at BWH.
Uterine fibroids may lead to abnormal vaginal bleeding, infertility, pelvic pain and pregnancy complications. Uterine fibroids are found in more than 75 percent of women of reproductive age.
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Washington — 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.
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CHICAGO (Reuters) - U.S. scientists have sequenced the entire genetic code of four gravely ill newborns and identified genetic diseases in three of them in two days, quick enough to help doctors make treatment decisions.
Doctors behind the preliminary study released on Wednesday say it demonstrates a practical use for whole genome sequencing, in which researchers analyze all 3.2 billion chemical "bases" or "letters" that make up the human genetic code.
"It is now feasible to decode an entire genome and provide interim results back to the physician in two days," said Dr. Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy medical center in Kansas City, Missouri, whose study was published in the journal Science Translational Medicine.
The study tested two software programs developed at Children's Mercy that were used in conjunction with a high-speed gene sequencer from Illumina called HiSeq 2500, which can sequence an entire genome in about 25 hours.
The company helped pay for the study and company researchers took part in it.
Next-generation gene sequencing machines have driven down the cost of whole genome sequencing, but making practical use of the data has been more challenging, largely because of the time it takes to analyze all of the data.
As many as a third of babies admitted to a neonatal intensive care unit in the United States have some form of genetic disease. Treatments are currently available for more than 500 diseases, but identifying them quickly has been a problem.
Typically, genetic testing on newborns using conventional methods takes four to six weeks, long enough that the infant has either died or been sent home.
"Up until now, they have really had to practice medicine blindfolded," Kingsmore said in a telephone briefing with reporters.
Dr. Neil Miller, director of informatics at Children's Mercy, said the software programs help doctors identify which genes to test, and analyze the data quickly.
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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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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
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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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 costs 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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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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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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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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BUDAPEST, HUNGARY--(Marketwire - Sep 28, 2012) - Power of the Dream Ventures, Inc. ( OTCBB : PWRV ) is pleased to announce the acquisition of Genetic Immunity, Inc., a Phase III clinical stage biotechnology company with experimental nanomedicines that will lead to the next generation of immunotherapies, in a market that is projected to reach $11.00 billion by 2018.
Genetic Immunity's lead product candidate is an immune boosting drug for HIV, which is now only treated by antiretroviral drugs that decrease the ability of the immune system to fight with the virus. DermaVir HIV-specific Immunotherapy is the first of a new line of curative nanomedicine products developed for the treatment and eradication of HIV. In addition, Genetic Immunity has implemented a Predictive Genomic Biomarker as companion diagnostics to accurately predict potential responder patients to DermaVir treatment. Such innovations towards personalized medicine increase the treatment effect and reduce the cost of pivotal trials in full compliance with the FDA's initiatives to improve products for patients (Driving Biomedical Innovation, 2011). In addition, following a successful DermaVir trial on HIV-infected adults, the US government is sponsoring a Phase II pediatric clinical trial.
DermaVir is the first therapeutic vaccine that consistently boosts broadly directed central memory T-cells in human subjects. This immune response has been correlated with containment of viremia in Elite Controllers. The Phase II randomized, multicenter, placebo controlled trial conducted in Germany established the optimal DermaVir dose and provided data that demonstrates the killing of HIV-infected cells. Therefore, the eradication of HIV or the conversion of progressors to Elite Controllers via DermaVir immunization became a testable hypothesis.
"This acquisition milestone is the result of our collaboration for a common goal to sell stock in Genetic Immunity to the public. The acquisition of a private company by a public one corresponds to a novel IPO, and offers tremendous upside potential for all the shareholders of Genetic Immunity and PWRV. Starting today, financial market participants will have an opportunity to determine the price of our business. We are eager, because comparable technology companies trade at over half a billion dollar valuation. On a more personal note, I believe that Genetic Immunity's platform technology is a once in a lifetime opportunity. For the first time we are truly in reach of eradicating a highly infectious disease. We are proud to be a part of the process whereby the innovations presented by Genetic Immunity can become publicly available," commented Viktor Rozsnyay, CEO of Power of the Dream Ventures.
"Through this highly innovative financial transaction, Genetic Immunity achieves its corporate objective to become a publicly traded company and to retain the control over the business. The financial and technological synergy between the two Companies provides for substantial growth opportunity and high return on investment to our shareholders," said Dr. Julianna Lisziewicz, CEO of Genetic Immunity.
With the acquisition Genetic Immunity becomes a 100% wholly owned subsidiary of Power of the Dream Ventures, Inc.
About PDV Power of the Dream Ventures, Inc. is a leading technology holding company. We identify and harness the unique technological prowess of Hungary's high-tech industry, turning promising ideas and ready to market products/technologies into global industry leaders. We focus on developing, acquiring, or co-developing technologies that originate exclusively in Hungary. For more information, please visit http://www.powerofthedream.com
About Genetic Immunity Genetic Immunity is a clinical stage technology company committed to discovering, developing, manufacturing and commercializing a new class of immunotherapeutic biologic drugs for the treatment of viral infections, cancer and allergies. The Company's two distinguished technology platforms will revolutionize the treatment of these chronic diseases. Our Langerhans' cell targeting nanomedicines are exceptional in both safety and immune modulating activity boosting specific Th1-type central memory T cells. Such immune responses differ from antibodies induced by vaccines. These are essential to eliminate infected cells or cancerous cells, and balance the immune reactivity in response to allergens. Our IT team generated a complex algorithm to match the mechanism of action of our drugs with clinical efficacy. In the future, we will predict the clinical and immunological benefits of our drugs based on the patient's disease and genomic background. The unique mixture of our technologies represents the next generation of personalized but not individualized medicines ensuring a longer and higher economic return.
Genetic Immunity's primary focus is the development of DermaVir that acts to boost the immune system of HIV-infected people to eliminate infected cells that remain in the reservoirs after successful antiretroviral treatment. Three clinical trials conducted in the EU and US showed that DermaVir immunizations were as safe as placebo and only four sequential patch treatments required to reduce the HIV infected cells in the blood within 24 weeks.
In 1988 Drs. Lisziewicz and Lori founded Genetic Immunity in the US after they described the 1st patient whose immune system was boosted to control HIV after treatment interruption (Lisziewicz et al. New England Journal of Medicine 1999) that lead to the invention of DermaVir. The Company's innovative technology team directed by Dr. Lisziewicz, a champion of immune busting therapies, is now headquartered in Budapest, Hungary. For more information please visit http://www.geneticimmunity.com
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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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Washington, September 30 (ANI): Cancer researchers, who studied 44 known genetic variants, have opened the door to future therapeutic applications based on personalized medicine by finding a method to identify why they increase cancer risk.
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April Flowers for redOrbit.com Your Universe Online
Thousands of years ago, a genetic mutation occurred which might be the answer to how early humans were able to move from central Africa and across the continent. This movement has been called the great expansion.
Three teams of researchers, from Wake Forest Baptist Medical Center, Johns Hopkins University School of Medicine and University of Washington School of Medicine, have analyzed genetic sequence variation patterns in different populations around the world. Their research, published this week in the online journal PLoS One, demonstrates that about 85,000 years ago, a critical genetic variant arose in a key gene cluster on chromosome 11, known as the fatty acid desaturase cluster (FADS).
This genetic variant would have allowed humans to convert plant-based polyunsaturated fatty acids (PUFAs) to brain PUFAs. The long-chain of PUFAs found in the brain are necessary for increased brain size, complexity and function, and the FADS cluster plays a critical role in determining how effectively medium-chain PUFAs in plants are converted.
According to archeological and genetic studies, Homo sapiens appeared approximately 180,000 years ago. For almost 100,000 years, our early ancestors tended to stay in one location close to bodies of water in central Africa. Scientists have hypothesized that this location was critical because early humans needed large amounts of the long-chain PUFA docosahexaenoic acid (DHA) commonly found in fish and shellfish in order to support complex brain function.
This may have kept early humans tethered to the water in central Africa where there was a constant food source of DHA, explained Dr. Floyd Chilton, director of the Center for Botanical Lipids and Inflammatory Disease Prevention at Wake Forest Baptist.
There has been considerable debate on how early humans were able to obtain sufficient DHA necessary to maintain brain size and complexity. Its amazing to think we may have uncovered the region of genetic variation that arose about the time that early humans moved out of this central region in what has been called the great expansion.
Under the intense pressure of natural section, this new trait was able to spread rapidly throughout the entire Homo sapiens population on the African continent.
The power of genetics continually impresses me, and I find it remarkable that we can make inferences about things that happened tens of thousands of years ago by studying patterns of genetic variation that exist in contemporary populations, said Dr. Joshua M. Akey from the University of Washington.
The most important result of this conversion was that humans no longer had to rely on just one food source, fish, for brain growth and development. This was particularly important because the genetic variant arose before organized hunting and fishing could have provided more reliable sources of long-chain PUFAs.
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New Studies On Genetic Variations Offer Insights Into Origins Of Man
Featured Article Academic Journal Main Category: Smoking / Quit Smoking Also Included In: Lung Cancer;Genetics Article Date: 17 Sep 2012 - 12:00 PDT
Current ratings for: Smokers With Lung Cancer Have Tenfold Genetic Damage
Senior author Richard K. Wilson is director of The Genome Institute at Washington University School of Medicine in St. Louis in the US. He says in a media statement that none of his team was surprised that the genomes of smokers with lung cancer had more mutations than the genomes of never-smokers with the disease:
"But it was surprising to see 10-fold more mutations. It does reinforce the old message - don't smoke," he adds.
Within non-small cell there are also three further classifications: adenocarcinomas (usually found in an outer area of the lung); squamous cell carcinomas (usually found in the center of the lung next to a bronchus or air tube); and large cell carcinomas (these can occur in any part of the lung and tend to grow and spread faster than the other two classes).
In their paper, the researchers describe how they carried out "whole-genome and transcriptome sequencing of tumor and adjacent normal tissue samples" from all 17 patients.
Across all 17 patients they identified just over 3,700 mutations, with an average mutation frequency more than 10-fold higher in the smokers compared to the never-smokers.
However, the researchers can't say whether these will work on these mutations in lung cancer patients, as first author Ramaswamy Govindan, an oncologist who treats patients at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University, explains:
"Whether these drugs will actually work in patients with these DNA alterations still needs to be studied."
"But papers like this open up the landscape to understand what's happening. Now we need to drill deeper and do studies to understand how these mutations cause and promote cancer, and how they can be targeted for therapy," he adds.
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Newswise Lung cancer patients with a history of smoking have 10 times more genetic mutations in their tumors than those with the disease who have never smoked, according to a new study from Washington University School of Medicine in St. Louis.
None of us were surprised that the genomes of smokers had more mutations than the genomes of never-smokers with lung cancer, says senior author Richard K. Wilson, PhD, director of The Genome Institute at Washington University. But it was surprising to see 10-fold more mutations. It does reinforce the old message dont smoke.
The study appears online Sept. 13 in Cell.
Overall, the analysis identified about 3,700 mutations across all 17 patients with non-small cell lung cancer, the most common type. Twelve patients had a history of smoking and five did not. In each patient who never smoked, the researchers found at least one mutated gene that can be targeted with drugs currently on the market for other diseases or available through clinical trials. Across all patients, they identified 54 mutated genes already associated with existing drugs.
Whether these drugs will actually work in patients with these DNA alterations still needs to be studied, says first author Ramaswamy Govindan, MD, an oncologist who treats patients at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University. But papers like this open up the landscape to understand whats happening. Now we need to drill deeper and do studies to understand how these mutations cause and promote cancer, and how they can be targeted for therapy.
Lung cancer is divided into two types small cell and non-small cell, the latter accounting for about 85 percent of all cases. Within non-small cell lung cancer are three further classifications. This current analysis included two of them. Sixteen patients had adenocarcinoma and one had large-cell carcinoma.
Govindan and Wilson also were involved in a larger genomic study of 178 patients with the third type, squamous cell carcinoma, recently reported in Nature. That study was part of The Cancer Genome Atlas project, a national effort to describe the genetics of common cancers.
Over the next year or so, we will have studied nearly 1,000 genomes of patients with lung cancer, as part of The Cancer Genome Atlas, says Govindan, who serves as a national co-chair of the lung cancer group. So we are moving in the right direction toward future clinical trials that will focus on the specific molecular biology of the patients cancer.
Indeed, based on the emerging body of genetic research demonstrating common mutations across disparate cancer types, Wilson speculates that the field may reach a point where doctors can label and treat a tumor based on the genes that are mutated rather than the affected organ. Instead of lung cancer, for example, they might call it EGFR cancer, after the mutated gene driving tumor growth. Mutations in EGFR have been found in multiple cancers, including lung, colon and breast.
This labeling is relevant, Wilson says, because today targeted therapies are approved based on the diseased organ or tissue. Herceptin, for example, is essentially a breast cancer drug. But he has seen lung cancer patients with mutations in the same gene that Herceptin targets.
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In Lung Cancer, Smokers Have 10 Times More Genetic Damage Than Never-Smokers
Newswise African-Americans dont get kidney stones as frequently as Caucasians.
Are they protected genetically? If so, identifying the genetic factors that retard kidney stone formation could lead to new ways to treat or even prevent this painful condition, according to Vanderbilt University researcher Todd Edwards, Ph.D.
Kidney stones afflict one of every 11 Americans and cost the country more than $2 billion annually. Avoiding them could really make a difference for a lot of people, and could cut health costs dramatically, he said.
Until recently, teasing out complicated kidney stone genetics would have required years of study, tens of thousands of patients and hundreds of millions of dollars. Now thanks to BioVU, Vanderbilts massive DNA databank, the mother lode is within reach.
This month BioVU logged in its 150,000th unique genetic sample. It is now the worlds largest collection of human DNA linked to searchable, electronic health information, said Dan Roden, M.D., assistant vice chancellor for Personalized Medicine at Vanderbilt and BioVUs principal investigator.
BioVU began collecting DNA in 2007. Discarded blood specimens from Vanderbilt patients are sent to the DNA Resources Core, where the genetic material is extracted and stored. If patients check a box on a consent form, their leftover blood will not be used, but few choose to opt out.
The DNA samples are bar-coded and, along with their matching electronic health records, scrubbed of information that could identify individual patients.
The resulting genetic gold mine enables Vanderbilt researchers to quickly pull and analyze the DNA of hundreds of people with particular health conditions or responses to medication.
Before proceeding, BioVU investigators must be approved by Vanderbilts Institutional Review Board, sign a data use agreement, and determine, with the help of a BioVU project manager, the feasibility of their idea. Their proposals are then considered by separate pre-review and full review committees consisting of Vanderbilt faculty members.
To date, more than 50 BioVU studies have been approved and are under way.
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BAR HARBOR Advances in genetic medicine are proceeding at such a rapid clip that solutions to some of humanitys most intractable medical problems could be present within the decade, Jackson Laboratory President and CEO Edison Liu, M.D. said Monday. Dr. Liu was speaking before a crowd of 150 gathered at the Bar Harbor Club for the annual meeting of the Mount Desert Island Hospital.
If we can push the envelope, we will cure cancer by the year 2020, Dr. Liu said in his keynote address. If Jackson Lab, on the little island on MDI, can win the Nobel Prize, we can beat breast cancer.
Advances in technology and in knowledge of the human genome have risen so much in the past decade that what we imagined just a few years ago is now reality, Dr. Liu said.
Today, we have high-resolution understanding of your genetics and your genome. We dont have to guess anymore, he said. We havent seen anything like this since the development of the motherboard in electronics.
In typical cancer treatment, a 30 percent response rate is considered a good outcome. But, with the growing ability to tailor drugs to each individual, the field of personalized medicine now promises the ability to increase that rate greatly, if not eliminate mortality from the disease altogether.
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