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

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.

On 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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Gene diseases in newborns unveiled quicker

October 4, 2012 in Nation/World

Lauran Neergaard Associated Press

WASHINGTON Too often, newborns die of genetic diseases before doctors even know whats 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 medicalcare.

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

Wednesdays study is a tentative first step: Researchers at Childrens Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasnt done in time to help most ofthem.

But the hospital finds the results promising enough that by years 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 ChildrensMercy.

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 TranslationalMedicine.

Even if the diagnosis is a lethal disease, the family will at least have an answer. They wont have false hope, headded.

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 becomescrucial.

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Quicker gene test may help babies - Thu, 04 Oct 2012 PST

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?

Continued here:
Gene therapies need new development models

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

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 Childrens Mercy Hospitals and Clinics in Kansas City, Missouri, created software that takes raw data from DNA scanning machines and combs though hundreds of genetic disorders to spot disease-causing mutations. The system provided likely diagnoses for three of four sick babies 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 Childrens 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 Childrens Hospital of Wisconsin in Milwaukee, who wasnt involved in the study. The ability to sequence and interpret a genome in less than week is huge.

Dimmock said researchers at his institution were working on a similar fast genome interpretation system, but hadnt published the results yet. 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 kids. Roughly 20 percent of infant deaths are caused by genetic conditions, according to the study released today.

The Childrens Mercy Hospital system was made possible in part by a new sequencing machine developed by San Diego-based Illumina Inc. (ILMN) that can decode an 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.

Heres where the system devised by Childrens Mercy researchers comes into play. Kingsmore and his team devised smart software that allows treating doctors to enter in a sick babys symptoms. The software then matches these reported symptoms to known genetic diseases that have similar symptoms, and scans through the babys genome results for likely harmful mutations in relevant genes.

We think this is going to transform the world of neonatology, Kingsmore said during a conference call with reporters. Until now, this was just not possible to get whole genome scan results quickly enough to help sick newborns in intensive care units, he said. Babies either died or else got better and were discharged home before the results of a gene test were returned.

For cases in which treatments are available, spotting the cause of a disease sooner may allow treatments to be started before it is too late, he said. Kingsmore estimated the total cost of the test to be about $13,500.

The rest is here:
Inherited Diseases Found Sooner in Newborns With DNA Scan

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.

More:
Rapid gene machines used to find cause of newborn illnesses

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.

Original post:
Fast Gene Screen May Help Sick Babies

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)

View post:
Gene behind many spontaneous breast cancers identified

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

ScienceDaily (Oct. 2, 2012) Cancerous tumors contain hundreds of mutations, and finding these mutations that result in uncontrollable cell growth is like finding the proverbial needle in a haystack. As difficult as this task is, it's exactly what a team of scientists from Cornell University, the University of North Carolina, and Memorial Sloan-Kettering Cancer Center in New York have done for one type of breast cancer. In a report appearing in the journal Genetics, researchers show that mutations in a gene called NF1 are prevalent in more than one-fourth of all noninheritable or spontaneous breast cancers.

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."

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. "This research is compelling because it helps us understand why some breast cancers are more likely to respond to only certain types of treatment," said Mark Johnston, Editor-in-Chief of the journal GENETICS. "The findings reported in this article may guide clinicians to better treatments specific to the needs of each patient."

This study was supported by NIH training grants IT32HDO57854 and 5T32GM007617 that supported M.D.W.; Empire State Stem Cell Fund contract numbers C026442 and C024174 to J.C.S.; and C.M.P. and A.D.P. were supported by NCI Breast SPORE program (P50-CA58223-09A1), by U24-CA143848, and by the Breast Cancer Research Foundation.

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The above story is reprinted from materials provided by Genetics Society of America, via Newswise.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

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Gene responsible for many spontaneous breast cancers identified

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

Contact: Allison Elliott allison.elliott@uky.edu University of Kentucky

LEXINGTON, Ky. (Oct. 1, 2012) Usher syndrome is a hereditary disease in which affected individuals lose both hearing and vision. The impact of Usher syndrome can be devastating. In the United States, approximately six in every 100,000 babies born have Usher syndrome.

Several genes associated with different types of Usher syndrome have been identified. Most of these genes encode common structural and motor proteins that build sensory cells in the eye and inner ear.

In a paper to be published in the November 2012 issue of Nature Genetics, a team of researchers from multiple institutions, led by Zubair M. Ahmed from the University of Cincinnati and Cincinnati Children's Hospital Medical Center, and including Gregory Frolenkov, associate professor in the University of Kentucky College of Medicine Department of Physiology, reported a novel type of gene associated with Usher syndrome - a calcium and integrin binding protein 2 (CIB2).

Zubair M. Ahmed, Saima Riazuddin, Thomas B. Friedman and their teams have identified this gene on chromosome 15 and determined that its mutations are responsible for nonsyndromic deafness and Usher syndrome type I. CIB2 was found to be interacting with other proteins associated with Usher syndrome.

Suzanne Leal and her team at the Baylor College of Medicine found that in Pakistan, CIB2 mutations are one of the prevalent genetic causes of nonsyndromic hearing loss.

Inna Belyantseva at the National Institute on Deafness and Other Communication Disorders, the National Institutes of Health, established that CIB2 is localized at the tips of mechanosensory stereocilia of the inner ear hair cells, exactly where the conversion of sound waves into electrical signals occurs.

Frolenkov and his team at UK demonstrated that disease-associated mutations in CIB2 change the ability of this protein to bind intracellular calcium; in a zebra fish model, its loss disrupts mechanosensitivity in the hair cells.

Furthermore, Tiffany Cook, Elke Buschback and their team at University of Cincinnati knockdown CIB2 analog in Drosophila (fruit fly) eyes and observed calcium-dependent degeneration of photoreceptors and loss of sensitivity to repetitive light pulses.

Read the rest here:
Novel gene associated with Usher syndrome identified

October 1, 2012

redOrbit Staff & Wire Reports Your Universe Online

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

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

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

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

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

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

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

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

See the original post:
New Gene Associated With Hearing Loss Discovered

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

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

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

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

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

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

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

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

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

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

See the original post:
Personalized Medicine's Transformation of Healthcare Accelerates

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

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

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

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

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

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

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

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

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

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

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Gene that causes deafness pinpointed

NEW YORK Scientists reported Sunday that they have completed a major analysis of the genetics of breast cancer, finding four major classes of the disease. They hope their work will lead to more effective treatments, perhaps with some drugs already in use.

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Trampolines are too dangerous for children to use, the American Academy of Pediatrics warned Monday. There were nearly 100,000 trampoline injuries in 2009 -- and safety nets don't offer much protection, doctors say.

The new finding offers hints that one type of breast cancer might be vulnerable to drugs that already work against ovarian cancer.

The study, published online Sunday by the journal Nature, is the latest example of research into the biological details of tumors, rather than focusing primarily on where cancer arises in the body.

The hope is that such research can reveal cancer's genetic weaknesses for better drug targeting.

"With this study, we're one giant step closer to understanding the genetic origins of the four major subtypes of breast cancer," Dr. Matthew Ellis of the Washington University School of Medicine said in a statement. He is a co-leader of the research.

"Now we can investigate which drugs work best for patients based on the genetic profiles of their tumors," he said.

The researchers analyzed DNA of breast cancer tumors from 825 patients, looking for abnormalities. Altogether, they reported, breast cancers appear to fall into four main classes when viewed in this way.

One class showed similarities to ovarian cancers, suggesting it may be driven by similar biological developments.

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Gene clues offer new hope for treating breast cancer

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

Contact: Katie Pence katie.pence@uc.edu 513-558-4561 University of Cincinnati Academic Health Center

CINCINNATIResearchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1.

These findings, published in the Sept. 30 advance online edition of the journal Nature Genetics, could help researchers develop new therapeutic targets for those at risk for this syndrome.

Partners in the study included the National Institute on Deafness and other Communication Disorders (NIDCD), Baylor College of Medicine and the University of Kentucky.

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

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

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. "However, we have also found another mutation of the protein that contributes to deafness in Turkish populations.

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

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Researchers discover gene that causes deafness

SUNDAY, Sept. 23 (HealthDay News) -- A comprehensive look at the genetic blueprint of breast cancer has revealed new insights into the disease -- including the discovery that certain breast and ovarian tumors may be closely related.

Basal-like breast tumors -- one of the most deadly subtypes of breast cancer -- are genetically more similar to ovarian cancer than to other breast cancers, the new research found.

In this study, the scientists used six different technologies to analyze 348 tumors from women with breast cancer. They looked for defects in DNA, RNA and proteins in the tumors.

They confirmed the existence of four main subtypes of breast cancer -- luminol A, luminal B, HER2 and basal-like -- and found unique genetic and molecular signatures within each of the subtypes.

The findings add to growing evidence suggesting that tumors should be catalogued and treated based on the genes that are disrupted rather than their location in the body, the researchers said.

"With this study, we're one giant step closer to understanding the genetic origins of the four major subtypes of breast cancer," study co-leader Dr. Matthew Ellis, chair of medical oncology at Washington University School of Medicine in St. Louis, said in a university news release.

One oncologist said the findings on breast cancer's diversity echo her own experience in treating patients.

"The diversity of breast cancer is instinctual to a practicing breast surgeon who has seen women with breast cancer, presumably the same stage, have differing outcomes with respect to recurrence and survival," said Dr. Donna-Marie Manasseh, director of breast surgery at the Maimonides Breast Cancer Center in New York City. "This research validates what we have suspected."

According to Ellis, the new study suggests that most basal-like breast tumors and ovarian tumors have similar genetic origins and potentially could be treated with the same drugs.

Basal-like tumors account for about 10 percent of all breast cancers and disproportionately affect younger and black women in the United States. Basal-like tumors include most triple-negative breast tumors, which are often aggressive and do not respond to therapies that target hormone receptors or to standard chemotherapies.

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Gene Study Yields New Clues to Breast Cancer

WEDNESDAY, Sept. 26 (HealthDay News) -- A colorectal gene database will help further research into the disease, a new study suggests.

The CRCgene database gathers all genetic association studies on colorectal cancer. It allows researchers to accurately interpret the risk factors of the disease and provides insight into the direction of further research, according to Julian Little, with the department of epidemiology and community medicine at the University of Ottawa, and colleagues.

To determine the genetic factors associated with colorectal cancer, they analyzed data from all published genetic association studies on colorectal cancer.

The researchers identified 16 independent gene variants with the strongest links to colorectal cancer, among 23 variants, a number lower than expected. Unfortunately, the researchers say, this reduces the feasibility of combining variants as a profile in a prediction tool to identity people who are at increased risk for colorectal cancer and who should be screened for the disease.

Even so, the analysis "provides a resource for mining available data and puts into context the sample sizes required for the identification of true associations," the researchers wrote in the Sept. 27 issue of the Journal of the National Cancer Institute.

About 950,000 new cases of colorectal cancer are diagnosed each year, according to a journal news release. Risk factors for the disease include age, diet, lifestyle and possibly genetics.

-- Robert Preidt

Copyright 2012 HealthDay. All rights reserved.

SOURCE: Journal of the National Cancer Institute, news release, Sept. 27, 2012

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Colon Cancer Gene Database May Assist Research Efforts

Public release date: 18-Sep-2012 [ | E-mail | Share ]

Contact: Mattias Lorentzon, University of Gothenburg mattias.lorentzon@medic.gu.se 46-031-342-4929 University of Gothenburg

A big international study has identified a special gene that regulates bone density and bone strength. The gene can be used as a risk marker for fractures and opens up opportunities for preventive medicine against fractures. The study, led by the Sahlgrenska Academy, University of Gothenburg, Sweden, was published in the journal PLoS Genetics.

The international study, which involved more than 50 researchers from Europe, North America and Australia and was led by Associate Professor Mattias Lorentzon and Professor Claes Ohlsson at the Sahlgrenska Academy, University of Gothenburg, is based on extensive genetic analyses of the genetic material of 10,000 patients and experimental studies in mice.

Through the combined studies, researchers have succeeded in identifying a special gene, Wnt16, with a strong link to bone density and so-called cortical bone thickness, which is decisive to bone strength.

The genetic variation studied by the international research network could predict, for example, the risk of a forearm fracture in a large patient group of older women.

"In the experimental study, we could then establish that the gene had a crucial effect on the thickness and density of the femur. In mice without the Wnt16 gene, the strength of the femur was up to 61 per cent lower," according to Mattias Lorentzon at the Institute of Medicine, the Sahlgrenska Academy, University of Gothenburg.

The discovery opens up opportunities to develop new medicines to prevent the most common fractures.

"Low cortical bone mass is a decisive factor in, for example, hip and forearm fractures. Unfortunately, the treatments currently used for brittleness of the bones have very little effect on the cortical bone mass," says Mattias Lorentzon.

"If we can learn to stimulate the signaling routes of the Wnt16 gene, we could strengthen the skeleton in these parts too, thereby preventing the most common and serious fractures. The discovery of Wnt16 and its regulation of cortical bone mass is therefore very important," according to Mattias Lorentzon.

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New gene offers hope for preventive medicine against fractures