Archive for the ‘Gene Therapy Research’ Category

LEIPZIG, GERMANY--(Marketwired - Jun 13, 2013) - AMD (NYSE: AMD) today announced that the Gene Center of the University of Munich (Ludwig Maximilians University, or LMU) has accelerated its research capabilities using AMD's SeaMicro servers to gain a computational edge for its groundbreaking discoveries. AMD's SeaMicro servers aided researchers in creating the world's first 3-D image of the human ribosome by combining more than 800,000 images. The findings advance the understanding of how bacteria ribosomes can be broken down without harming human ribosomes, similar to the operation of some antibiotics. This could lead to the discovery of new drugs that are more effective and personalized to a person's genetic profile.

The Gene Center -- a leading life sciences research center in Munich, Germany -- conducts research that requires intensive computational capability which up until now has traditionally been limited to custom-built, highly expensive high-performance computing (HPC) clusters. AMD's SeaMicro server with Freedom Fabric, provides 1.28 terabits-per-second of bandwidth to scale computing performance without the need for expensive, external InfiniBand interconnections or 10 GbE networking.

"High-performance computing is critical to the cutting-edge research and groundbreaking discoveries of the LMU Gene Center," said Ronald Beckmann, professor at the Gene Center at LMU. "AMD's SeaMicro servers provide a computational edge by delivering supercomputer-like performance in the industry's smallest form factor. The server really is a mini-supercomputer in a box, and it is accelerating our research and allowing us to do analysis and break new ground in the field of structural biochemistry."

AMD's SeaMicro servers are simple and easy to deploy due to their dense form factor and simple management interface. They fit into standard server rooms, like those used in the Gene Center, compared to HPC clusters or supercomputers that require custom build-outs for facilities and cooling. The compact 10 rack unit chassis (17.5 inches, 44.5 centimeters) creates a solution that is essentially a mini-supercomputer in a box.

The Gene Center selected SeaMicro servers for their power efficiency, integration and supercomputer-like performance at a fraction of the cost of alternative solutions. A single person deployed the system, which contains 128 servers and 512 computing cores, in just two days. The deployment, featured in an AMD case study, has run flawlessly and improved the Gene Center's other bioinformatics services such as protein homology searches, which help to understand unknown proteins.

"For fields such as genetic research, computing is often a constraint due to the cost of the systems traditionally used. We are breaking that mold to make high-performance computing more widely available," said Dhiraj Mallick, corporate vice president and general manager, Data Center Server Solutions, AMD. "The potential benefits of the research at the Gene Center are tremendous since they are essentially unlocking the secrets of how life works at the molecular level."

The groundbreaking work at the Gene Center has the potential to make medications safer and more effective. Some newer drugs that break down the bacterial ribosome are only allowed for adults because they may not be safe for children. The Gene Center's research could help bring these medications to a wider population. The 3-D images provide insights into how a protein is built, which could ultimately lead to the development of new, more effective medications.

AMD's SeaMicro SM15000 system is the highest density, most energy-efficient server in the market. In 10 rack units, it links 512 compute cores, 160 gigabits of I/O networking and more than five petabytes of storage with the 1.28 terabit Freedom Fabric. The SM15000 server eliminates top-of-rack switches, terminal servers, hundreds of cables and thousands of unnecessary components for a more efficient and simple operational environment.

AMD's SeaMicro server product family currently supports the next generation AMD Opteron ("Piledriver") processor as well as Intel's Xeon E3-1260L ("Sandy Bridge"), E3-1265Lv2 ("Ivy Bridge") and Intel Atom N570 processors. The SeaMicro SM15000 also supports the Freedom Fabric Storage products, enabling a single system to connect with more than five petabytes of storage capacity in two racks. This approach delivers the benefits of expensive and complex solutions, such as network-attached storage (NAS) and storage-area networking (SAN), with the simplicity and low cost of direct attached storage.

Representatives from AMD will be at the International Supercomputing Conference (ISC '13) in Leipzig, Germany at the Megware booth #644 June 17-19 to provide more details on its SeaMicro system.

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AMD's SeaMicro Servers Accelerate Leading-Edge Biomolecular Research to Provide High-Performance Computing (HPC) at ...

The Supreme Court's ruling that human genes cannot be patented has been met with excitement from doctors over the implications for patient health. Other experts, however, questioned whether there will be a widespread impact.

The high court's ruling threw out some patents previously held by Myriad Genetics Inc., a Salt Lake City-based company that had patented a genetic test for the BRCA gene that's associated with increased risks for breast and ovarian cancers.

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"We hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated," said Justice Clarence Thomas, who wrote the court's unanimous decision.

The court, however, also ruled that synthetic DNA -- called cDNA -- could be patented by a company.

The full decision of Association for Molecular Pathology et al. v. Myriad Genetics,Inc., et. al can be found on the Supreme Court's website.

The lawsuit against the genetics company included plaintiffs from the American Civil Liberties Union (ACLU), American Society for Clinical Pathology (ASCP) and other medical professional associations, on behalf of researchers, patients and women's health groups.

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It stemmed from Myriad's specific patents for the BRCA1 and BRCA2 genes. Mutations of these genes raise risk for breast and ovarian cancer. Not every woman who has a mutated BRCA1 or BRCA2 gene will develop cancer, however they are at much greater risk.

About 12 percent of women will develop breast cancer in their lives, according to the National Cancer Institute, but about 60 percent of women with a harmful BRCA1 or BRCA2 mutation will develop the disease. For ovarian cancer, lifetime risk for most women is 1.4 percent, but for women who inherited the faulty BRCA genes, the risk estimate climbs to 15 to 40 percent.

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Supreme Court's gene patent ruling could boost patient care

Newswise Researchers at Case Western Reserve University have found that a single gene poses a double threat to disease: Not only does it inhibit the growth and spread of breast tumors, but it also makes hearts healthier.

In 2012, medical school researchers discovered the suppressive effects of the gene HEXIM1 on breast cancer in mouse models. Now they have demonstrated that it also enhances the number and density of blood vessels in the heart a sure sign of cardiac fitness.

Scientists re-expressed the HEXIM1 gene in the adult mouse heart and found that the hearts grew heavier and larger without exercise. In addition, the animals resting heart rates decreased. The lowered heart rate indicates improved efficiency, and is supported by their finding that transgenic hearts are pumping more blood per beat. The team also discovered that untrained transgenic mice ran twice as long as those without any genetic modification.

Our promising discovery reveals the potential for HEXIM1 to kill two birds with one stone potentially circumventing heart disease as well as cancer, the countrys leading causes of death, said Monica Montano, PhD, associate professor of pharmacology, member of the Case Comprehensive Cancer Center, who created the mice for the heart and breast cancer research and one of the lead researchers.

Hypertension and subsequent heart failure are characterized by a mismatch between the heart muscles need for oxygen and nutrients and blood vessels inability to deliver either at the rate required. This deficit leads to an enlarged heart that, in turn, often ultimately weakens and stops. The researchers showed that increasing blood vessel growth through the artificial enhancement of HEXIM1 levels improved overall function HEXIM1 may be a possible therapeutic target for heart disease.

The study, published online in the peer-reviewed journal Cardiovascular Research, is the sixth from the team of Dr. Montano and Michiko Watanabe, PhD, professor of pediatrics, genetics, and anatomy at Case Western Reserve School of Medicine and director of Pediatric Cardiology Fellowship Research at Rainbow Babies and Childrens Hospital. Their collaboration began in 2004 with an investigation of why mice expressing mutant HEXIM1 suffered heart failure in the fetal stages of life. The research team found then that the gene is important for cardiovascular development and that it is abundant in the earliest months of life. This discovery led the team to explore whether increasing HEXIM1 levels could help reverse cardiovascular disease by encouraging vessel growth.

Our Cleveland-based collaborative research teams revealed that increasing HEXIM1 levels brought normal functioning hearts up to an athletic level, which could perhaps stand up to the physical insults of various cardiovascular diseases, Watanabe said.

The results build on the teams findings last year that showed increased levels of HEXIM1 suppressed the growth of breast cancer tumors. Using a well-known mouse model of breast cancer metastasis, researchers induced the genes expression by locally delivering a drug, hexamethylene-bisacetamide using an FDA-approved polymer. The strategy increased local HEXIM1 levels and inhibited the spread of breast cancer. The team is currently making a more potent version of the drug and intends to move to clinical trials within a few years.

Many cancer drugs have detrimental effects on the heart, said Mukesh K. Jain, MD, FAHA, professor of medicine, Ellery Sedgwick Jr. Chair and director of Case Cardiovascular Research Institute at Case Western Reserve School of Medicine. It would be beneficial to have a cancer therapeutic with no adverse effects on the heart and perhaps even enhance its function.

The Case Western Reserve-led research team is now investigating HEXIM1s ability to improve the health of mice with cardiovascular disease. They are investigating the drugs ability to reduce the damage from heart attacks.

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Gene Offers an Athlete's Heart Without the Exercise

A technician loads patient samples into a machine for testing at Myriad Genetics in Salt Lake City in 2002. The Supreme Court ruled Thursday that Myriad cannot patent the BRCA genes, which are tested to check a woman's risk for breast and ovarian cancer.

A technician loads patient samples into a machine for testing at Myriad Genetics in Salt Lake City in 2002. The Supreme Court ruled Thursday that Myriad cannot patent the BRCA genes, which are tested to check a woman's risk for breast and ovarian cancer.

The U.S. Supreme Court on Thursday ruled that human genes cannot be patented, upending 30 years of patent awards granted by the U.S. Patent Office. The court's unanimous decision has enormous implications for the future of personalized medicine and in many ways is likely to shape the future of science and technology.

Myriad Genetics, one of the nation's biotech leaders, isolated two genes with mutations that can indicate a high risk of breast and ovarian cancer. The company patented the genes, known as BRCA 1 and BRCA 2, and developed a test so that women with family or previous cancer histories could see if they had the mutations.

But the patent meant that other researchers could not use the isolated genes to develop potentially more reliable and cheaper tests. A group of doctors, patients and researchers went to court to challenge Myriad's patent, and on Thursday they won a prtial victory.

The Supreme Court, while acknowledging the importance of Myriad's discovery, said that Myriad did not create anything by isolating the two BRCA genes and that the genes are a product of nature.

"The location and order of the nucleotides existed in nature before Myriad found them. Nor did Myriad create or alter the genetic structure of DNA," Justice Clarence Thomas wrote for the court. "To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act or invention."

Those who are critical of Myriad note that the patent meant that there were no second opinion available.

Rep. Debbie Wasserman Schultz, D-Fla., experienced that limitation firsthand. At age 41, she was diagnosed with breast cancer. Because of her family history, she took the BRCA test and found she had the mutation. Doctors told her there was no second test, so with no other choice she had both breasts and both ovaries removed. With the Supreme Court ruling, she says, women in her position should have more tests available to them.

"This decision allows women to get an independent test repeated so that they can make a decision with a lot more information than the results of one test," she tells NPR.

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Supreme Court Gene Ruling Splits Hairs Over What's 'Natural'

Megan McGrath - Everyone has BRCA genes in their cells. If you are a woman and one of your BRCA gene copies has a mutation, your risk of developing breast cancer is very high - up to 87 percent in some cases.

A biotechnology company called Myriad Genetics Inc. was the first to discover the healthy, normal code of BRCA. Because a mutation is an error in that code, the normal sequence can be used to test for the breast cancer-causing BRCA mutation. Myriad developed the test, and won patent protection for it and the original BRCA gene.

Thursday, in a case against Myriad by the ACLU, the Supreme Court decreed that genes can no longer be patented, invalidating Myriads intellectual claim to the BRCA code. Yet both sides came away claiming victory.

So what happened, and what does this decision mean for cancer patients, medical researchers and biotechnology?

A patent is issued to give an inventor or developer intellectual and property rights to whatever has been made. The patent on the BRCA gene initially was granted for isolated DNA: the gene removed from the human body so that it may be worked with in the lab.

But the federal Patent Act states that an inventor may not claim intellectual property rights for laws of nature or natural phenomena.

The question was whether the isolated BRCA gene constituted a new invention, having been removed from the body. The Supreme Court unanimously decided that isolated DNA, though isolated, is still natural, and not a human invention.

According to Dr. Marisa Weiss, founder and president of Breastcancer.org, this could mean new research, cures and testing for women with BRCA mutations, and for cancer patients. Until now, researchers have had to pay for the isolated BRCA genetic code, which they need to have to understand how BRCA functions both on its own and in concert with other genes.

BRCA repairs errors in the DNA of breast tissue cells, and prevents unrestrained growth. So, if BRCA is damaged, breast tissue growth can go haywire, leading to cancer.

Five to 10 percent of all breast cancers are caused by BRCA mutation, and it also leads to a greatly increased risk of ovarian cancer. Freeing the isolated BRCA gene from its patent could allow researchers to develop more, cheaper tests for BRCA mutation, which could give more women at increased risk of developing cancer a chance to know their status earlier.

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Supreme Court Gene Ruling Benefits Biotech, Breast Cancer Research

The Gene Revolution, The Future of Agriculture: Dr. Thierry Vrain at TEDxComoxValley
Thierry Vrain retired 10 years ago after a long career as a soil biologist and ended head of a department of molecular biology running his own research progr...

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The Gene Revolution, The Future of Agriculture: Dr. Thierry Vrain at TEDxComoxValley - Video

Genetic Engineering - A New Perspective
AP Lang Video Essay Music by Jake Chudnow (Poodles and Going Down)

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Genetic Engineering - A New Perspective - Video

Its probably safe to say that former eco-warrior, Mark Lynas, who spoke Thursday morning at the Donald Danforth Plant Science Center in Creve Coeur, has given some environmentalists and activists a case of whiplash.

Lynas, an outspoken British environmental activist and author of three books, had been at the forefront of the anti-GMO (genetically modified organisms) movement. He had pulled up fields of Monsantos genetically engineered crops during nighttime raids, staged media-savvy protests outside the companys offices and penned articles about the evils of genetic engineering.

So when Lynas, in January, told a group gathered at a farming conference in England that he believed his stance had been wrong, there was some shock.

For the record, here and upfront, I apologize for having spent several years ripping up GM crops, he told the crowd. Im also sorry that I helped to start the anti-GM movement back in the 1990s, and that I thereby assisted in demonizing an important technological option which can be used to benefit the environment.

The mea culpa ricocheted through the blogosphere and made Lynas a lightning rod in the already charged debate over GM crops.

His about-face also makes him a perfect fit for the Danforth center because he represents the very attitude shift it would like to see. Indeed, the center paid for his speech Thursday, which was part of the ongoing Seeds of Change lecture series. The nonprofit research center, with links to Monsanto across the street, is working to develop disease- and virus-resistant crops intended to help small-scale farmers in Africa and Asia, where some governments have resisted the technology. (The center was built with contributions from Monsanto, and Monsantos CEO is on the board.)

In the case of Mark Lynas, hes taken a very interesting and positive position on the usage of technology for plant improvement, and its a turnabout from past views, said Paul Anderson, the centers executive director of international programs. And it came about from a better understanding of science and how it works. Once he gained that, he gained new perspective.

So how did Lynas go from quasi-criminal activist who rode around in vans at night sabotaging fields to poster boy for the genetic-engineering-can-save-the-world camp?

Lynas said he was researching a book about climate change, and a non-scientist himself learned the value of peer review, how to wade through statistics and to understand the basics in a disparate range of climate-related fields. In the process, he said, he came across anti-science climate change doubters whom he attempted to convince of the necessary rigors of science.

Then he realized, he says, even as he was writing anti-GMO pieces for British newspapers, that he wasnt applying those same rigors to his own thinking about genetic engineering.

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Former anti-GMO crusader speaks at Donald Danforth Plant Science Center

GENEVA & SAN CARLOS, Calif.--(BUSINESS WIRE)--

Unilabs, a leading diagnostics company in Europe, and Natera, a leading innovator in prenatal genetic testing, announced today that Unilabs will distribute Nateras non-invasive prenatal screening test, Panorama, across its wide network in Switzerland and Scandinavia. Panorama was launched in March 2013 for the detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and select sex chromosome abnormalities, such as monosomy X (Turners syndrome).

Panorama marks a significant advance in the field of prenatal testing as it has shown remarkable sensitivity and specificity across multiple aneuploidies, said Thomas Brinkmann, M.D., group chief medical officer of Unilabs. By providing physicians and expectant mothers with accurate information in a non-invasive test, Panorama contributes to our goal of ensuring that expectant mothers receive accurate information to guide their doctors clinical decisions.

Unilabs provides a comprehensive portfolio of diagnostic services in 11 countries in Europe. It has diagnostic contracts with companies specializing in areas such as laboratory medicine, medical imaging, reproductive medicine and drug development services.

We are excited to work with a world-class partner in the distribution of Panorama to Switzerland and other parts of Europe, said Matthew Rabinowitz, Ph.D., chief executive officer of Natera. Unilabs extensive healthcare network will enable more women and physicians to gain access to Nateras best-in-class test and the reliable information that it provides early in pregnancy.

Panorama uses a simple blood draw from the mother, examines cell-free DNA found in maternal blood originating from both mother and fetus, and can be performed within the first trimester of pregnancy, as early as nine weeks, without any risk to the fetus. Panoramas technology analyzes, in a single reaction, 19,500 single nucleotide polymorphisms (SNPs), which are the most informative portions of an individuals DNA. It utilizes the NATUS [Next-generation Aneuploidy Testing Using SNPs] algorithm, an advanced version of Nateras proprietary informatics.

Across multiple clinical trials, Panorama has been validated globally for trisomy 21, trisomy 18, trisomy 13 and monosomy X with a sensitivity of greater than 99% for trisomy 21, trisomy 18 and trisomy 13, 92% for monosomy X, and no false positives for all syndromes tested. Panoramas clinical validation data was presented at the annual Society of Maternal Fetal Medicine Meeting on Feb. 15, 2013. The most recent independently-led blinded study was published in May 2013 in Prenatal Diagnosis from author K.H. Nicolaides and The Fetal Medicine Foundation. Panorama is currently being evaluated in several other clinical trials for the detection of other genetic disorders, including XXY, XYY, XXX and triploidy.

About Unilabs

Unilabs is a leading diagnostic services company. We operate more than 120 laboratories and 44 radiology units in Denmark, Finland, France, Italy, Norway, Portugal, Russia, Spain, Sweden, Switzerland, and the United Kingdom. Our customers are public and private healthcare providers, county councils, the general public, insurance companies, the pharmaceutical industry and CROs. We supply medical laboratory services within: laboratory medicine, genetic testing, medical imaging, cellular pathology, reproductive medicine, drug development services and clinical trials. For more information please visit http://www.unilabs.com.

About Natera

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Unilabs and Natera Initiate Partnership for Distribution of Non-Invasive Prenatal Test, Panorama™, in Switzerland ...

June 13, 2013

Brett Smith for redOrbit.com Your Universe Online

New research from the Mayo Clinic has identified favorable genetic variations that increase the chances of a positive response to preventive breast cancer therapy with the drugs tamoxifen and raloxifene, according to a new report in the journalCancer Discovery.

Our findings are important because we identified genetic factors that could eventually be used to select women who should be offered the drugs for prevention, said study co-author Dr. James Ingle, an oncologist at the clinic.

Referred to as selective estrogen receptor modulator (SERM) therapy, tamoxifen or raloxifene are often prescribed to prevent breast cancer in women who have a high risk for the disease. Occasionally, the drugs can cause hazardous side effects, such as blood clots, strokes and uterine cancer. These risks can be a deterrent for women who would otherwise benefit from the treatments.

In an effort to better predict whether the therapy will work, researchers at the Mayo Clinic, the National Surgical Adjuvant Breast and Bowel Project (NSABP) in Pittsburgh, and the RIKEN Center for Genomic Medicine in Tokyo conducted a genetic analysis involving over 590 patients who developed breast cancer while on SERM therapy and 1,200 women in a control group. They were chosen from 33,000 women enrolled in two NSABP breast cancer prevention trials.

In their analysis, the scientists focused on over 500,000 genetic variations in the DNA called single nucleotide polymorphisms (SNP). These SNPs were compared between women who developed breast cancer during the trial and those who remained free of the disease.

The analysis identified two genes associated with a higher risk for cancer: ZNF423 and CTSO. Neither of these genes had been linked with breast cancer or any response to the preventive drugs. Women with the beneficial variations of the two SNPs were 5.7 times less likely to develop breast cancer while on the preventive drugs than were women with neither advantageous SNP.

A biochemical analysis of the SNPs showed they affect the activity of BRCA1, a known breast cancer risk gene. Desirable versions of BRCA1 reduce disease by repairing genetic damage, while harmful versions of BRCA1 dramatically increase breast cancer risk.

Our discovery is a major step toward truly individualized prevention of breast cancer, Ingle said. Findings from our study provide clear direction as to which women are likely and which are unlikely to benefit from tamoxifen or raloxifene.

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Genetic Markers May Signify Response To Breast Cancer Therapy

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

Good Start Genetics, Inc.,an innovative molecular diagnostics company delivering best-in-class tests for routine genetic screening, announced that the journal Genetics in Medicine published a study online today validating the companys powerful, proprietary next-generation DNA sequencing (NGS) approach. The study, titled Next-Generation Carrier Screening, demonstrates that Good Start Genetics DNA sequencing-based technology surpasses other methods by yielding more accurate, sensitive and complete carrier screening results. The companys NGS-based tests are currently available to reproductive health providers across the United States as GoodStart Select.

This is one of the best examples yet that personal genome knowledge offers great value to everyone alive, not just a few. Your genome contains highly predictive and medically actionable insights. This is also a terrific validation of recent technological efforts to improve cost and quality of sequencing, and allows us to learn much more about ourselves, said genomics expert and study co-author George Church, Ph.D., professor of genetics at Harvard Medical School.

Genetic carrier screening is routinely performed to better understand the risk of a couple having a child with a known inherited disease. In this study, Good Start Genetics utilized its NGS technology to sequence and analyze the protein-coding regions of 15 genes in which loss-of-function mutations cause 14 recessive common genetic disorders. In this study, the company employed Sanger sequencing on an unprecedented scale to determine the accuracy of its NGS approach. Good Start Genetics achieved 99.98 percent analytical sensitivity and 99.9999 percent analytical specificity, exceeding the accuracy previously reported by others studying NGS. In addition, Good Start Genetics gene targeting technology was shown to capture at least 99.8 percent of desired regions, greatly surpassing the capabilities of other gene capture approaches to produce a more comprehensive result.

In addition, the company developed, validated and reported a patented novel algorithm (GATA) to detect genetic insertions and deletions inaccessible by current methods. The algorithm was shown in this study to detect challenging mutations that current state-of-the-art analysis approaches miss, without reducing specificity. The accuracy of GATA was also validated by realistic simulation of disease-causing mutations, further increasing confidence in the results of Good Start Genetics NGS approach.

The publication of the analytical performance of our NGS approach is a wonderful achievement for our company, said Don Hardison, president and CEO of Good Start Genetics. It further differentiates our NGS-based GoodStart Select screening test as robust, accurate and comprehensive. We believe the unprecedented analytical performance of our approach, and the scientific rigor with which it was validated, ultimately provides enormous value to physicians and patients, and sets us apart as leaders in the clinical application of next-generation sequencing.

About GoodStart Select

GoodStart Select is Good Start Genetics menu of carrier screening tests that, for diseases such as cystic fibrosis, detects many more disease-causing mutations than any other routine carrier screening test, regardless of patient ethnicity. After years of development and rigorous validation, Good Start Genetics has harnessed the power of its sophisticated technologies, including next-generation DNA sequencing (NGS), to provide highly accurate and actionable tests resulting in higher mutation detection rates and fewer missed carriers. Good Start offers genetic screening tests for all disorders recommended by the American Congress of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics and Genomics (ACMG), and leading Jewish advocacy groups.

To support the companys gold standard genetic screening capabilities, Good Start has a dedicated team of customer care specialists, board certified medical geneticists and genetic counselors who provide step-by-step support, from test selection through results, analysis and reporting. For these reasons, reproductive health specialists and their patients can have the highest degree of confidence in their genetic carrier screening results.

About Good Start Genetics, Inc.

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New Data Validates Good Start Genetics’ Proprietary Next Generation Sequencing Technology

LOUISVILLE, Ky.--(BUSINESS WIRE)--

The Supreme Courts decision today to invalidate patents on human genes changes the landscape of Personalized Medicine, making it possible for more patients to benefit from genetic testing while substantially lowering the cost of that testing.

PGXLs mission is to advance Personalized Medicine for the improvement of peoples lives, says Dr. Roland Valdes, Jr., President of PGXL Laboratories. This opens the door for PGXL Laboratories and others to provide a greater diversity of tests in the very near future.

The BRCA1 and BRCA2 genes that were the subject of this case indicate a predisposition to breast and ovarian cancer. It was a BRCA1 test that convinced Angelina Jolie to undergo pre-emptive mastectomy.

The tests have been expensive, costing as much as $3,000. Putting BRCA1 and BRCA2 in the public domain will lower that cost by increasing availability and competition. In addition, unencumbered access to the genes will enable laboratories to innovate new and more cost-effective ways to analyze and interpret the gene.

The case is Association for Molecular Pathology v. Myriad Genetics, 12-398

ABOUT PGXL

PGXL Laboratories is a pioneer in the application of genetic testing to personalized medicine. It was the first lab CLIA-certified specifically to perform pharmacogenetic tests, and the first to bring to market a combined CYP2C9/VKORC1 panel to diagnose susceptibility to warfarin adverse drug reactions. Along with its clinical practice, PGXL performs contract research for manufacturers of pharmaceuticals and medical equipment.

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Supreme Court Decision Will Bring the Benefits of Personalized Medicine to More People

HOUSTON, June 13, 2013 /PRNewswire/ --Thanks to today's U.S. Supreme Court decision opening the door to greater access to genetic medicine by American patients and their health care providers, testing for genes specifically linked to breast, ovarian and other cancers will now be more widely available and at a lower cost than ever before.

DNATraits, a division of Houston-based genomics and genetics testing company Gene By Gene, Ltd., announced today that it will offer testing for the BRCA1 and BRCA2 genes in the United States for $995. Prior to today's unanimous Supreme Court ruling, when exorbitant licensing fees kept DNATraits and others from offering BRCA gene tests in the United States, the cost for such tests was around $4,000.

"We're pleased to make this important testing more widely available and accessible in the United States," said Gene By Gene President Bennett Greenspan. "Our highly automated CLIA-registered lab and efficient processes enable us to make genetic and genomic testing more affordable and accessible to more individuals, in the U.S. and worldwide. And that's our company's mission, in a nutshell."

The company's announcement about the tests, which gained national attention when actress Angelina Jolie courageously revealed in May that being a BRCA1 carrier was among the factors in her decision to have a preventive double mastectomy, comes after today's Supreme Court ruling in "Association For Molecular Pathology v. Myriad Genetics."

"We commend the Supreme Court for opening the door to greater technological innovation and access to genetic tools that promise to save and improve the quality of human lives in the United States," Greenspan added. "It's critical that as an industry we are able to continue to engage in healthy competition to drive down the costs of these tests because as more individuals have access to and undergo them, the more information we'll have about many serious diseases that eventually may lead to cures."

DNATraits has processed testing for the BRCA1 and BRCA2 genes for individuals living outside the U.S. since 2012. Those genes are processed using traditional Sanger DNA sequencing, which is considered the gold standard for DNA analysis, at the company's Genomic Research Center in Houston, a CLIA-registered lab which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations globally.

In addition to the BRCA gene tests, DNATraits offers a pre-natal array that covers 111 population specific diseases, as well as other not population-specific diseases, like Duchene Muscular Dystrophy.

Customer InquiriesIndividuals interested in learning more about either the BRCA1 or BRCA2 tests should ask their doctors for more information. They and their health care providers can also visit the company's website, http://www.dnatraits.com, or call (713) 868-1438 for more information.

About Gene By Gene, Ltd. Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

Media Contact:Kate Croft for Gene By Gene, Ltd. Casteel Schoenborn 888-609-8351 croft@csirfirm.com

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Supreme Court Ruling Today Allows DNATraits to Offer Low Cost BRCA Breast and Ovarian Cancer Gene Testing in U.S.

Public release date: 13-Jun-2013 [ | E-mail | Share ]

Contact: Joe Dangor newsbureau@mayo.edu 507-284-5005 Mayo Clinic

ROCHESTER, Minn. -- Newly discovered genetic variations may help predict breast cancer risk in women who receive preventive breast cancer therapy with the selective estrogen receptor modulator drugs tamoxifen and raloxifene, a Mayo Clinic-led study has found. The study is published in the journal Cancer Discovery.

"Our findings are important because we identified genetic factors that could eventually be used to select women who should be offered the drugs for prevention," said James Ingle, M.D., an oncologist at Mayo Clinic.

Dr. Ingle and collaborators at the National Surgical Adjuvant Breast and Bowel Project (NSABP) and the RIKEN Center for Genomic Medicine conducted a genome-wide association study involving 592 patients who developed breast cancer while receiving preventive therapy and 1,171 matched controls. Participants were selected from 33,000 women enrolled in the NSABP breast cancer prevention trials. This research was supported by a Pharmacogenomics Research Network grant from the National Institute of General Medical Science and the National Cancer Institute.

The researchers analyzed participants' DNA to identify variations in their genetic makeup and identified two genetic variations, or single nucleotide polymorphisms (SNPs), that were associated with breast cancer risk in or near the genes ZNF423 and CTSO.

They discovered that women with favorable variations in these genes were more likely to respond to preventive therapy with the drugs while women with unfavorable variations may not. In addition, women with unfavorable variations had a five-fold increased risk of developing breast cancer.

Dr. Ingle says the recent guidelines by the U.S. Preventive Services Task Force emphasize that selective estrogen receptor modulators (SERM) therapy with tamoxifen and raloxifene can lower a woman's risk for developing breast cancer. However, there currently is no way to know which women will benefit from the therapy.

"This is a major step toward truly individualized prevention of breast cancer," says Dr. Ingle. "Our findings provide clear direction as to which women are likely and which are unlikely to benefit from tamoxifen or raloxifene." Dr. Ingle says the findings provide the basis for a reinvigoration of research efforts in breast cancer prevention.

The researchers also studied breast cancer cell lines with the most common variation and the less common variation of the SNPs. They found that in cells with the most common variation of the SNPs, estrogen increased expression of both ZNF423 and CTSO and the expression of BRCA1, a gene associated with breast cancer risk. Estrogen did not increase expression of these genes in cells that had the less common form of the SNPs. Importantly, however, when tamoxifen or raloxifene were added to estrogen, there was a striking reversal in the patterns of expression of ZNF423 and BRCA1. In cells with the less common ZNF423 SNP, expression of ZNF423 and BRCA1 rose dramatically. This reversal in expression patterns provides a potential explanation for the decreased occurrence of breast cancer in women undergoing SERM therapy who carry this SNP.

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Genetic variations may help identify best candidates for preventive breast cancer drugs

13th June 2013

George Freeman has tabled an adjournment debate on Genetic medicine and patients' rights.

10 years ago the UK was home to one of the great breakthroughs in the story of mankind. The first human genome was sequenced at the Sanger Centre a mile to the South of Cambridge. The code of life the sequence of DNA embedded in the nucleus of every human cell which codes for the proteins which assemble and control every function of the human body, was mapped for the first time.

It took 100,000,000 and over ten years of focused scientific effort. Today the explosive breakthroughs in genetics and computing make it possible to achieve the same with 1000 in 24 hours. Now clinics are appearing around the world offering personalized cancer therapy with drugs tailored to your specific disease and condition.

When Angelina Jolie bravely announced that she had a double mastectomy last month, she revealed that it was these breakthroughs in genetic science that not only identified that she was at high risk of having breast cancer, but empowered her to make this very personal decision. We need to ensure that these medical breakthroughs are available to all patients.

The Government is onto this exciting new dawn of genetic medicine and through the Life Science Strategy and its 100m Cancer Genomics Project is heralding a revolution in genetic and personalised medicine that will define diagnosis, treatment and aftercare in the 21st Century. As Government Life Science Adviser, and having spent 15 years in biomedical research before becoming a newly elected MP in 2010, I have seen for myself the astonishing revolution occurring in medical research, and the exciting opportunity it opens up for patients.

But, at the heart of this revolution, there are some important questions about the rights of patients that must be addressed. There are many ethical and philosophical complexities that require discussion and debate, including who owns the rights to genetic and clinical data; who has the right to be tested; and how we can open the NHS to allow greater access to the type of medical breakthroughs that will fundamentally change the way we treat illness and disease in our society.

It is these questions that have led me to secure an Adjournment Debate on Genetic Medicine and Patients Rights on Thursday 13th June, not only raise awareness of these advances in Parliament, but hopefully to the wider public.

This is the new frontier of medicine, one that will fundamentally change healthcare in the UK, not only for the NHS and UK plc, but most importantly of all, patients.

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George Freeman MP: An Arab Spring in Healthcare

MCAT Genetics: Incomplete Dominance Co-dominance
Entry for the Khan Academy MCAT Video Competition Video 1 of 3.

By: Tina Munjal

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MCAT Genetics: Incomplete Dominance

MCAT Genetics: Test Cross
Entry for the Khan Academy MCAT Video Competition Video 3 of 3.

By: Tina Munjal

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MCAT Genetics: Test Cross - Video

ALISO VIEJO, Calif.--(BUSINESS WIRE)--

Ambry Genetics announced today the launch of BRCA1 and BRCA2 analysis as part of their comprehensive cancer-testing menu. Two genes will be offered as a stand alone test comprising of full gene sequencing and deletion/duplication analyses in addition to being incorporated as part of multiple hereditary cancer panels that test cancer susceptibility genes using next-generation sequencing (NGS) technology. Additionally, Ambry Genetics is excited to launch a new high-risk hereditary breast cancer panel (BRCAplus) that simultaneously analyzes six clinically actionable genes: BRCA1, BRCA2, CDH1, PTEN, STK11 and TP53. These additions complement Ambrys comprehensive menu of single gene offerings and NGS multi-gene panels designed for hereditary cancer syndromes.

Ambry Genetics is a CLIA-certified service laboratory specializing in clinical diagnostic and genomic services with a comprehensive menu of over 300 tests that has offered NGS-based gene panel testing since 2009. Incorporating BRCA1/2 genes allows Ambry to expand its testing for hereditary cancer syndromes and thus provide patients with more comprehensive cancer screening tests.

BRCA1/2 are tumor suppressor genes that have an essential role in both DNA repair and cell cycle control systems. BRCA1/2 germline mutations are inherited in an autosomal dominant pattern. When mutated, the genetic alterations affect DNA repair leading to increased lifetime risk to develop multiple cancers. Germ-line BRCA1/2 mutations are implicated in majority of hereditary breast-ovarian cancer syndrome (HBOC) cases. In these cases, women carrying a BRCA1/2 mutation have between a 40-80% lifetime risk to develop breast cancer and between a 20-40% lifetime risk to develop ovarian cancer. Male BRCA mutation carriers have up to a 30-39% lifetime risk for prostate and a 5-10% lifetime risk for male breast cancer. Cancer risks are further modified by family history, reproductive choices, lifestyle and environmental factors and other genetic factors.

With the launch of BRCA1/2 genetic testing, Ambry Genetics now offers the most comprehensive suite of hereditary cancer testing available, said Charles Dunlop, Chief Executive Officer of Ambry Genetics. Ambrys BRCA1/2 testing includes gene sequence and deletion/duplication analyses at a competitively lower cost and comparable turn-around time to the laboratory that previously controlled BRCA1/2 analysis.

Ambry Genetics fully supports awareness and the need for cancer screening of individuals with a personal or family history of inherited cancer syndromes like HBOC. While hereditary breast and ovarian cancer accounts for 5-10% of all breast and ovarian cancer cases, approximately 25-50% of these are due to BRCA1/2 mutation. BRCA1/2 carrier frequency is estimated at 1/400 or 0.2% in the non-Ashkenazi Jewish (AJ) population. Mutations in the BRCA genes are much more common in individuals of AJ descent, with a carrier frequency of 1/40 or 2.6%. Establishing a molecular diagnosis of HBOC then becomes crucial, as it can help guide preventative measures, direct surgical options and estimate personal and familial cancer risk.

The relationship between BRCA1/2 and breast cancer risk was not discovered by a single patent holder, it stood on the shoulders of years of work by our scientific colleagues. Ambry is a beneficiary of these collaborative efforts of the research community both in US and worldwide. We have access to tremendous resources for the classification of BRCA1/2 variants and accurate association with cancer risk, said Elizabeth Chao, M.D., Chief Medical Officer at Ambry Genetics. This provides us with a strong basis for a variant classification program that will be second to none.

About Ambry Genetics

Ambry Genetics is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified commercial clinical laboratory with headquarters in Aliso Viejo, Orange County, Calif. Since its founding in 1999, it has become a leader in providing genetic services focused on clinical diagnostics and genomic services, particularly in sequencing and array services. Ambry has established a reputation for unparalleled service and has been at the forefront of applying new technologies to the clinical molecular diagnostics market and to the advancement of disease research. To learn more about testing and services available through Ambry Genetics, visit http://www.ambrygen.com.

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Ambry Genetics Launches BRCA1/2: Single Genes and NGS Panel Offerings

NEW YORK (CNNMoney)

The ruling opens the door for other labs to conduct testing for genetic disposition to cancer.

In their unanimous decision, the nine justices concluded that unlike naturally occurring DNA, lab-created DNA can be patented.

The company at the center of the case, Myriad Genetics (MYGN), was attempting to retain exclusive rights to find, isolate and synthetically recreate genes that, when mutated, vastly increase a person's chance of developing breast and ovarian cancer. The ability to do so allows the lab to identify when patients run a higher-than-average risk of breast and ovarian cancer.

Myriad's stock price initially rose as much as 13% after the ruling. But it sold off throughout the afternoon and wound up down nearly 6% for the day.

"Much of the industry will be a winner in this," according to attorney Sandra Park, a member of the American Civil Liberties Union legal team that fought against Myriad. "There are many companies that want to offer genetic testing on patented genes. They've been unable to do that so far because of these types of patents."

That includes genetic testing labs InVitae and GeneDx, two private companies that voiced support to open up competition to others in the industry.

Will insurance cover genetic testing, preventive surgery?

Still, Myriad maintains that much of what goes into its gene testing remains protected by patents -- more than 500 of them.

In a statement, Myriad CEO Peter D. Meldrum noted the company can still protect its synthetic DNA patents, a key part of its business. Meldrum said the ruling ensures "strong intellectual property protection for our BRACAnalysis test moving forward."

Read this article:
Myriad Genetics whipsawed on Supreme Court gene ruling

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

Good Start Genetics, Inc.,an innovative molecular diagnostics company delivering best-in-class tests for routine genetic screening, announced that the journal Genetics in Medicine published a study online today validating the companys powerful, proprietary next-generation DNA sequencing (NGS) approach. The study, titled Next-Generation Carrier Screening, demonstrates that Good Start Genetics DNA sequencing-based technology surpasses other methods by yielding more accurate, sensitive and complete carrier screening results. The companys NGS-based tests are currently available to reproductive health providers across the United States as GoodStart Select.

This is one of the best examples yet that personal genome knowledge offers great value to everyone alive, not just a few. Your genome contains highly predictive and medically actionable insights. This is also a terrific validation of recent technological efforts to improve cost and quality of sequencing, and allows us to learn much more about ourselves, said genomics expert and study co-author George Church, Ph.D., professor of genetics at Harvard Medical School.

Genetic carrier screening is routinely performed to better understand the risk of a couple having a child with a known inherited disease. In this study, Good Start Genetics utilized its NGS technology to sequence and analyze the protein-coding regions of 15 genes in which loss-of-function mutations cause 14 recessive common genetic disorders. In this study, the company employed Sanger sequencing on an unprecedented scale to determine the accuracy of its NGS approach. Good Start Genetics achieved 99.98 percent analytical sensitivity and 99.9999 percent analytical specificity, exceeding the accuracy previously reported by others studying NGS. In addition, Good Start Genetics gene targeting technology was shown to capture at least 99.8 percent of desired regions, greatly surpassing the capabilities of other gene capture approaches to produce a more comprehensive result.

In addition, the company developed, validated and reported a patented novel algorithm (GATA) to detect genetic insertions and deletions inaccessible by current methods. The algorithm was shown in this study to detect challenging mutations that current state-of-the-art analysis approaches miss, without reducing specificity. The accuracy of GATA was also validated by realistic simulation of disease-causing mutations, further increasing confidence in the results of Good Start Genetics NGS approach.

The publication of the analytical performance of our NGS approach is a wonderful achievement for our company, said Don Hardison, president and CEO of Good Start Genetics. It further differentiates our NGS-based GoodStart Select screening test as robust, accurate and comprehensive. We believe the unprecedented analytical performance of our approach, and the scientific rigor with which it was validated, ultimately provides enormous value to physicians and patients, and sets us apart as leaders in the clinical application of next-generation sequencing.

About GoodStart Select

GoodStart Select is Good Start Genetics menu of carrier screening tests that, for diseases such as cystic fibrosis, detects many more disease-causing mutations than any other routine carrier screening test, regardless of patient ethnicity. After years of development and rigorous validation, Good Start Genetics has harnessed the power of its sophisticated technologies, including next-generation DNA sequencing (NGS), to provide highly accurate and actionable tests resulting in higher mutation detection rates and fewer missed carriers. Good Start offers genetic screening tests for all disorders recommended by the American Congress of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics and Genomics (ACMG), and leading Jewish advocacy groups.

To support the companys gold standard genetic screening capabilities, Good Start has a dedicated team of customer care specialists, board certified medical geneticists and genetic counselors who provide step-by-step support, from test selection through results, analysis and reporting. For these reasons, reproductive health specialists and their patients can have the highest degree of confidence in their genetic carrier screening results.

About Good Start Genetics, Inc.

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New Data Validates Good Start Genetics’ Proprietary Next Generation Sequencing Technology

June 13, 2013 In women at high risk for breast cancer, a long-term drug treatment can cut the risk of developing the disease in half. Researchers supported by the National Institutes of Health have now identified two gene variants that may predict which women are most likely to benefit from this therapy -- and which should avoid it.

The work represents a major step toward truly individualized breast cancer prevention in women at high risk for the disease based on their age, family history of breast cancer, and personal medical history.

"Our study reveals the first known genetic factors that can help predict which high-risk women should be offered breast cancer prevention treatment and which women should be spared any unnecessary expense and risk from taking these medications," said the study's lead scientist, James N. Ingle, M.D., professor of oncology at the Mayo Clinic in Rochester, Minn. "We also discovered new information about how the drugs tamoxifen and raloxifene work to prevent breast cancer."

Ingle and Mayo-based colleagues in the NIH Pharmacogenomics Research Network (PGRN) conducted the study in collaboration with PGRN-affiliated researchers at the RIKEN Center for Genomic Medicine in Tokyo. Data and patient DNA came from the long-running National Surgical Adjuvant Breast and Bowel Project (NSABP), supported by the National Cancer Institute.

"This innovative, PGRN-enabled international research partnership has produced the first gene-based method to identify which women are likely to benefit from a readily available preventive therapy," said PGRN director Rochelle Long, Ph.D., of the NIH's National Institute of General Medical Sciences. "Because the disease affects so many women worldwide, this work will have a significant impact."

The research, which shows nearly a six-fold difference in disease risk depending on a woman's genetic makeup, appears in the June 13, 2013, issue of Cancer Discovery.

Women undergoing breast cancer preventive treatment take tamoxifen or raloxifene for five years. In rare cases, the drugs can cause dangerous side effects, including blood clots, strokes and endometrial cancer.

Many women never try the therapy because the chance of success seems small (about 50 women in the NSABP trials needed to be treated to prevent one case of breast cancer) compared to the perceived risk of side effects. More women might benefit from the potentially life-saving strategy if doctors could better predict whether the therapy was highly likely to work. That's what the current study begins to do.

The investigators leveraged data from past NSABP breast cancer prevention trials that involved a total of more than 33,000 high-risk women -- the largest sets of such data in the world. Women in the trials gave scientists permission to use their genomic and other information for research purposes.

The scientists analyzed the genomic data by focusing on more than 500,000 genetic markers called single nucleotide polymorphisms (SNPs). Each SNP represents a single variation in the DNA sequence at a particular location within the genome.

Read more here:
Gene variants may predict who will benefit from breast cancer prevention drugs

BOSTON, June 13, 2013 (GLOBE NEWSWIRE) -- The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to National Tay-Sachs and Allied Diseases Association (NTSAD) for development of the first-ever treatment for Tay-Sachs and Sandhoff, rare diseases that are fatal in young children and extremely debilitating in their late-onset form.

The gene therapy in development would correct an enzyme deficiency that causes the progressive neurodegeneration that marks these diseases. Both Tay Sachs and Sandhoff are lysosomal storage diseases, a group of more than 50 genetically inherited disorders characterized by deficiency of a vital enzyme that prevents the proper breakdown of undigested material inside cells.

Orphan drug designation, which is intended to facilitate drug development for rare diseases, provides substantial benefits to the sponsor, including the potential for funding of certain clinical studies, study-design assistance and several years of market exclusivity for the product upon regulatory approval.

"This orphan drug designation is a giant step forward in our efforts to bring hope to Tay-Sachs patients and their families, as today there are no treatments," said NTSAD President, Shari Ungerleider. "Gene therapy has the potential to be a one-time transformative therapy for patients suffering from rare neurodegenerative genetic disorders such as Tay-Sachs. NTSAD, along with its funding partners, is committed to advancing the clinical and commercial development of our gene therapy platform because of the potential life-changing benefit it could have for patients and their families."

Based on promising results of animal studies that have been ongoing since 2007, the Tay-Sachs Gene Therapy Consortium research team is completing pre-clinical studies in advance of a Phase I clinical trial.

About the Tay-Sachs Gene Therapy Consortium

The Tay-Sachs Gene Therapy (TSGT) Consortium was founded in 2007 to advance human clinical trials in the quest for a gene therapy treatment for Tay-Sachs and Sandhoff diseases. The multidisciplinary team, led by Miguel Sena Esteves, Ph.D., recipient of the 2011 Outstanding New Investigator Award from the American Society of Gene & Cell Therapy, includes scientists and clinicians from Auburn University, Boston College, Cambridge University-UK, Massachusetts General Hospital/Harvard Medical School, University of Massachusetts Medical School, and New York University Medical School.

About NTSAD

The oldest rare disease advocacy organization in the nation, National Tay-Sachs and Allied Diseases Association (NTSAD) was founded in 1957 by concerned parents whose children were affected by Tay-Sachs disease or related rare genetic lysosomal storage diseases and leukodystrophies. Today NTSAD continues its multifaceted support of affected families and funds research seeking a treatment or cure. NTSAD also pioneered the development of community education about carrier screening programs for Tay-Sachs and related diseases, which became models for all genetic diseases. More information is available at http://www.ntsad.org.

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National Tay-Sachs & Allied Diseases Association Receives U.S. Orphan Drug Designation for Novel Gene Therapy

From millions of random mutations, scientists identify a virus that could make gene therapy for inherited retinal diseases safer and more effective.

A new delivery mechanism shuttles gene therapy deep into the eyes retina to repair damaged light-sensing cells without requiring a surgeon to put a needle through this delicate tissue. The approach could make it substantially easier to treat inherited forms of eye disease with this approach.

Although still largely experimental, gene therapy is gradually moving to the hospital. The technology is involved in some 2,000 completed and ongoing clinical trials, and last December the European Union approved a gene therapy treatment for a metabolic disorder (see Gene Therapy on the Mend as Treatment Gets Western Approval). But until recently, most gene therapy has involved using naturally occurring viruses to deliver a genetic payload, says David Schaffer, a biomedical engineer at the University of California, Berkeley, and a 2002 MIT Technology Review Innovator Under 35, who was involved in the work. These viruses have evolved to succeed in a natural setting, and we are using them to do something completely different, he says.

The naturally occurring viruses that have been used to deliver therapy to the eye must be injected directly into the damaged retina, which can cause additional damage by detaching light-detecting photoreceptors from their supporting layer. To build a better system, Schaffer and colleagues turned to whats known as directed evolution. The researchers produced millions of random variations of the adeno-associated virus, a harmless virus often used as a vector for gene therapy. From this vast pool, they ultimately identified the single strain that was the best at delivering new genes into damaged retinas. The work is published today in the journal Science Translational Medicine.

Working with mice that had two different genetic forms of retinal disease, the Berkeley researchers injected the millions of viruses into the fluid that fills the main body of the eye. From this fluid, naturally occurring adeno-associated viruses cannot reach the light-sensing cells of the retina because they get caught up on other surrounding cells. But by removing the rodent retinas and examining them, the team was able to identify strains that with mutations that enabled them to reach the critical tissue. Repeating the process led them to the strain that was most successful at reaching mouse photoreceptors.

In one of the conditions the group studied, called X-linked retinoschisis, a bad copy of a gene that makes a glue-like protein causes layers of the retina to rip apart, resulting in loss of vision. The experiments suggest that a working version of that gene, carried in the lab-identified virus, could potentially reverse that damage.

The virus carried it across the whole retina, and as the retina glued itself back together, its response to light returned, says John Flannery, a neurobiologist at the University of California, Berkeley, who was also involved with the work. The team also found that the viral vector was able to deliver a gene into the retina of a monkey, although not as effectively as in mice. The researchers are currently using directed evolution to find the best strain for delivering genes to primate retinas.

Directed evolution now has been used by a number of groups, and its turning out to be a very robust way to find vectors that have novel properties that could be useful in gene-therapy settings, says Mark Kay, director of the Human Gene Therapy program at Stanford University School of Medicine. The technique has already been used to identify engineered viruses that can better deliver gene therapies to the heart and other tissues, says Kay, and its likely to become more widely used in the future.

The next big hurdle, Kay adds, will be to test these DNA-delivering viruses in patients. Lab animal results dont always replicate in humans, even when using close species, he says.

Continued here:
Scientists find one lab virus in millions that could improve gene therapy for retinal diseases

June 12, 2013 Researchers at UC Berkeley have developed an easier and more effective method for inserting genes into eye cells that could greatly expand gene therapy to help restore sight to patients with blinding diseases ranging from inherited defects like retinitis pigmentosa to degenerative illnesses of old age, such as macular degeneration.

Unlike current treatments, the new procedure is quick and surgically non-invasive, and it delivers normal genes to hard-to-reach cells throughout the entire retina.

Over the last six years, several groups have successfully treated people with a rare inherited eye disease by injecting a virus with a normal gene directly into the retina of an eye with a defective gene. Despite the invasive process, the virus with the normal gene was not capable of reaching all the retinal cells that needed fixing.

"Sticking a needle through the retina and injecting the engineered virus behind the retina is a risky surgical procedure," said David Schaffer, professor of chemical and biomolecular engineering and director of the Berkeley Stem Cell Center at UC Berkeley. "But doctors have no choice, because none of the gene delivery viruses can travel all the way through the back of the eye to reach the photoreceptors -- the light sensitive cells that need the therapeutic gene.

"Building upon 14 years of research, we have now created a virus that you just inject into the liquid vitreous humor inside the eye, and it delivers genes to a very difficult-to-reach population of delicate cells in a way that is surgically non-invasive and safe. "It's a 15-minute procedure, and you can likely go home that day."

The engineered virus works far better than current therapies in rodent models of two human degenerative eye diseases, and can penetrate photoreceptor cells in monkeys' eyes, which are like those of humans.

Schaffer said he and his team are now collaborating with physicians to identify the patients most likely to benefit from this gene delivery technique and, after some preclinical development, hope soon to head into clinical trials.

Schaffer and John Flannery, UC Berkeley professor of molecular and cell biology and of optometry, along with colleagues from UC Berkeley's Helen Wills Neuroscience Institute and the Flaum Eye Institute at the University of Rochester in New York, published the results of their study on June 12 in the journal Science Translational Medicine.

Harnessing a benign virus for gene therapy

Three groups of researchers have successfully restored some sight to more than a dozen people with a rare disease called Leber's congenital amaurosis, which leads to complete loss of vision in early adulthood. They achieved this by inserting a corrective gene into adeno-associated viruses (AAV), and injecting these common but benign respiratory viruses directly into the retina. The photoreceptor cells take up the viruses and incorporate the functional gene into their chromosomes to make a critical protein that the defective gene could not, rescuing the photoreceptors and restoring sight.

Continue reading here:
Easy and effective therapy to restore sight: Engineered virus will improve gene therapy for blinding eye diseases

From millions of random mutations, scientists identify a virus that could make gene therapy for inherited retinal diseases safer and more effective.

Special delivery: Eight weeks after the new virus was injected into the eye of a monkey, the activity of a fluorescent gene it delivered can be seen in spots across the retina.

A new delivery mechanism shuttles gene therapy deep into the eyes retina to repair damaged light-sensing cells without requiring a surgeon to put a needle through this delicate tissue. The approach could make it substantially easier to treat inherited forms of eye disease with this approach.

Although still largely experimental, gene therapy is gradually moving to the hospital. The technology is involved in some 2,000 completed and ongoing clinical trials, and last December the European Union approved a gene therapy treatment for a metabolic disorder (see Gene Therapy on the Mend as Treatment Gets Western Approval). But until recently, most gene therapy has involved using naturally occurring viruses to deliver a genetic payload, says David Schaffer, a biomedical engineer at the University of California, Berkeley, and a 2002 MIT Technology Review Innovator Under 35, who was involved in the work. These viruses have evolved to succeed in a natural setting, and we are using them to do something completely different, he says.

The naturally occurring viruses that have been used to deliver therapy to the eye must be injected directly into the damaged retina, which can cause additional damage by detaching light-detecting photoreceptors from their supporting layer. To build a better system, Schaffer and colleagues turned to whats known as directed evolution. The researchers produced millions of random variations of the adeno-associated virus, a harmless virus often used as a vector for gene therapy. From this vast pool, they ultimately identified the single strain that was the best at delivering new genes into damaged retinas. The work is published today in the journal Science Translational Medicine.

Working with mice that had two different genetic forms of retinal disease, the Berkeley researchers injected the millions of viruses into the fluid that fills the main body of the eye. From this fluid, naturally occurring adeno-associated viruses cannot reach the light-sensing cells of the retina because they get caught up on other surrounding cells. But by removing the rodent retinas and examining them, the team was able to identify strains that with mutations that enabled them to reach the critical tissue. Repeating the process led them to the strain that was most successful at reaching mouse photoreceptors.

In one of the conditions the group studied, called X-linked retinoschisis, a bad copy of a gene that makes a glue-like protein causes layers of the retina to rip apart, resulting in loss of vision. The experiments suggest that a working version of that gene, carried in the lab-identified virus, could potentially reverse that damage.

The virus carried it across the whole retina, and as the retina glued itself back together, its response to light returned, says John Flannery, a neurobiologist at the University of California, Berkeley, who was also involved with the work. The team also found that the viral vector was able to deliver a gene into the retina of a monkey, although not as effectively as in mice. The researchers are currently using directed evolution to find the best strain for delivering genes to primate retinas.

Directed evolution now has been used by a number of groups, and its turning out to be a very robust way to find vectors that have novel properties that could be useful in gene-therapy settings, says Mark Kay, director of the Human Gene Therapy program at Stanford University School of Medicine. The technique has already been used to identify engineered viruses that can better deliver gene therapies to the heart and other tissues, says Kay, and its likely to become more widely used in the future.

The next big hurdle, Kay adds, will be to test these DNA-delivering viruses in patients. Lab animal results dont always replicate in humans, even when using close species, he says.

View post:
Virus That Evolved in the Lab Delivers Gene Therapy into the Retina