Public release date: 1-Aug-2013 [ | E-mail | Share ]

Contact: Tamzin Byrne tamzin@scienceinpublic.com.au 043-297-4400 Centenary Institute

Researchers from the Gene and Stem Cell Therapy Program at Sydney's Centenary Institute have confirmed that, far from being "junk", the 97 per cent of human DNA that does not encode instructions for making proteins can play a significant role in controlling cell development.

And in doing so, the researchers have unravelled a previously unknown mechanism for regulating the activity of genes, increasing our understanding of the way cells develop and opening the way to new possibilities for therapy.

Using the latest gene sequencing techniques and sophisticated computer analysis, a research group led by Professor John Rasko AO and including Centenary's Head of Bioinformatics, Dr William Ritchie, has shown how particular white blood cells use non-coding DNA to regulate the activity of a group of genes that determines their shape and function. The work is published today in the scientific journal Cell.

"This discovery, involving what was previously referred to as "junk", opens up a new level of gene expression control that could also play a role in the development of many other tissue types," Rasko says. "Our observations were quite surprising and they open entirely new avenues for potential treatments in diverse diseases including cancers and leukaemias."

The researchers reached their conclusions through studying intronsnon-coding sequences which are located inside genes.

As part of the normal process of generating proteins from DNA, the code for constructing a particular protein is printed off as a strip of genetic material known as messenger RNA (mRNA). It is this strip of mRNA which carries the instructions for making the protein from the gene in the nucleus to the protein factories or ribosomes in the body of the cell.

But these mRNA strips need to be processed before they can be used as protein blueprints. Typically, any non-coding introns must be cut out to produce the final sequence for a functional protein. Many of the introns also include a short sequenceknown as the stop codonwhich, if left in, stops protein construction altogether. Retention of the intron can also stimulate a cellular mechanism which breaks up the mRNA containing it.

Dr Ritchie was able to develop a computer program to sort out mRNA strips retaining introns from those which did not. Using this technique the lead molecular biologist of the team, Dr Justin Wong, found that mRNA strips from many dozens of genes involved in white blood cell function were prone to intron retention and consequent break down. This was related to the levels of the enzymes needed to chop out the intron. Unless the intron is excised, functional protein products are never produced from these genes. Dr Jeff Holst in the team went a step further to show how this mechanism works in living bone marrow.

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Aug. 1, 2013 Researchers at UCLA's Jonsson Comprehensive Cancer Center (JCCC) have successfully combined cellular therapy and gene therapy in a mouse model system to develop a viable treatment strategy for breast cancer that has metastasized, or spread, to the patient's brain. The laboratory study was led by Carol Kruse, professor of neurosurgery and member of JCCC and the UCLA Brain Research Institute. The study was published in the journal Clinical Cancer Research on August 1, 2013.

Breast cancer is the most common form of cancer in women, and metastasis is a major cause of health deterioration and death from the disease. Management of metastasis is difficult for several reasons. The circulatory network known as the blood-brain barrier prevents many anti-cancer drugs from reaching the areas of the brain to which cancer has spread. Also, the tendency of metastasis to spring up in multiple places in the brain simultaneously makes current treatments such as radiation challenging.

Cellular therapy is a type of immunotherapy (treatment that involves the immune system) that uses T cells, the foot soldiers of the immune system, which have been sensitized in the laboratory to kill breast cancer cells. Those T cells are injected into the part of the brain to which the cancer has spread. The research shows the T cells move through tissue and can recognize and then directly kill the tumor cells. With the gene therapy, cancer cells are killed by a drug called 5-flurocytosine (5-FC) because they have been gene-modified. To get the gene into the cancer cells, the researchers first insert the gene into a virus that can infect (penetrate and spread among) the tumor cells. After the virus has infected the cells, nontoxic 5-FC is given to the patient. Tumor cells infected by the virus convert the nontoxic drug to a toxic form that kills the cancer cells. Dr. Noriyuki Kasahara, a professor in the department of medicine, developed the gene therapy method in his laboratory.

While the two methods alone each show efficacy in mouse models, the greatest reduction in metastatic brain tumor size happened when the cellular and gene therapies were combined.

"There is a significant lack of Federally funded research addressing translational studies on brain metastases of systemic cancers," Dr. Kruse said, "even though metastatic brain tumors occur ten times more frequently than primary brain tumors in humans. These patients have a dismal prognosis because the brain represents a 'sanctuary site' where appropriate access by many chemotherapeutics is ineffective. Our research addresses this unmet need."

Both experimental therapies are being tested individually in ongoing clinical trials for primary malignant brain tumors, which presents a unique opportunity for rapid translation of this technology from the laboratory to the clinic for breast and other types of cancer that metastasize to the brain.

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New treatment strategy for breast cancer spread to brain

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Stem Cell Therapy - Amazing Breakthrough in Skin wrinkles treatment
Stem Cell Therapy is the newest bio-active topical cream that actually stimulates your own existing skin stem cells to grow smooth, supple, firm new skin. Fo...

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Newswise Researchers at the University of California, San Diego School of Medicine have identified the gene mutation responsible for a particularly severe form of pontocerebellar hypoplasia, a currently incurable neurodegenerative disease affecting children. Based on results in cultured cells, they are hopeful that a nutritional supplement may one day be able to prevent or reverse the condition.

The study, from a team of international collaborators led by Joseph G. Gleeson, MD Howard Hughes Medical Institute investigator and professor in the UCSD Departments of Neurosciences and Pediatrics and at Rady Childrens Hospital-San Diego, a research affiliate of UC San Diego will be published in the August 1 issue of the journal Cell.

Pontocerebellar hypoplasia is a group of rare, related genetic neurological disorders characterized by abnormal development of the brain, resulting in disabilities in movement and cognitive function. Most patients do not survive to adulthood.

Gleeson and colleagues identified a specific gene mutation that causes pontocerebellar hypoplasia and linked it to an inability of brain cells to generate a form of energy required to synthesize proteins. Without this ability, neurons die, but the researchers also found that bypassing this block with a nutritional supplement restored neuronal survival.

The goal is to one day use this supplement to prevent or reverse the course of neurodegeneration in humans, and thus cure this disease, said Gleeson.

Nucleotides are the main energy source of cells. They exist in two forms: ATP and GTP. While ATP fuels most energy requirements, GTP is the source for protein synthesis. Mutations in the gene AMPD2 lead to the accumulation of ATP, and the subsequent depletion of GTP. The result, said Gleeson, is an imbalance in the cells energy source, which prevents protein synthesis and causes neurodegeneration.

These patients have what is described in medical textbooks as an untreatable disease, yet show mutations in a neuronal pathway that should be amenable to medication, said study co-author Naiara Akizu, PhD, a member of Gleesons lab. We chose to bypass this block using AICAR, a substance known to improve exercise endurance.

The researchers tested their AICAR-based treatment in genetic models of the disease and in human cells. The next step, said Gleeson, will be to test AICAR in a mouse model of pontocerebellar hypoplasia that his lab has created, followed by human trials.

We dont know if AICAR will work in mice or humans yet, but our work in cells definitely points in that direction, said co-author Vincent Cantagrel, PhD. This rare disorder might be one of the first treatable neurodegenerative diseases in humans.

Other co-authors include Jana Schroth, Na Cai, Keith Vaux, Ali G. Fenstermaker, Jennifer L. Silhavy, Emily Spencer, Rasim Ozgur Rosti, Eric Scott, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, UCSD Departments of Neurosiences, Bioengineering, Medicine, Pediatrics, Pathology and Glycotechnology Core Resource; Edward W. Holmes, Sanford Consortium for Regenerative Medicine; Judith S. Scheliga Sanford-Burnham Medical Research Institute; Keiko Toyama, Hiroko Morisaki and Takayuki Morisaki, Osaka University; Fatma Mujgan Sonmez and Figen Celep, Turgut Ozal University and Karadeniz Technical University, Turkey; Azza Oraby and Maha S. Zaki, Cairo University Childrens Hospital, and National Research Center, Egypt; Raidah Al-Baradie, Eissa Faqeih and Mohammed Saleh, King Fahd Specialist Hospital and Childrens Hospital, Kingdom of Saudi Arabia; Elizabeth Nickerson and Stacey Gabriel, The Broad Institute of MIT and Harvard University.

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Potential Nutritional Therapy for Childhood Neurodegenerative Disease

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Childhood neurodegenerative diseases, while rare, can be devastating. Characterized by a progressive loss of neural function and the eventual death of the brains neurons, these disorders tend to lack treatment options and are often fatal.

Now, researchers from the University of California, San Diego School of Medicine are providing hope for some families with neurodegenerative conditions, after discovering a gene mutation responsible for a very severe childhood disorder called pontocerebellar hypoplasia.

Based on their experiments, the research team believes a nutritional supplement could be used to treat and reverse the condition, which is currently thought to be incurable.

Its very poorly defined in the textbooks; medical doctors have probably heard about it, but wouldnt recognize it in the clinic, lead study author Dr. Joseph Gleeson, Howard Hughes Medical Institute investigator and professor in the department of neurosciences and pediatrics at UCSD, told FoxNews.com. By doing this genetic evaluation, I think itll help raise the idea in doctors minds that this is a unique condition and needs to be recognized and treated.

Pontocerebellar hypoplasia is a group of rare, genetic neurological disorders characterized by the shrinkage of the cerebellum and brain stem over time. Children with the condition initially have problems with balance, breathing and swallowing, and the disease eventually elevates to include disabilities in movement and cognitive function. The average lifespan for patients is five to 10 years.

Gleeson and his colleagues have been conducting genome sequencing the mapping of genetic information of children with brain conditions, such as cerebral palsy and mental retardation. It was through this work that the stumbled upon children with pontocerebellar hypoplasia, pinpointing the mutated gene they all had in common: AMPD2.

This gene is involved in metabolism in some of the most basic building blocks of cells. Gleeson said of AMPD2. Its how cells meet their energy requirements.

Nucleotides provide the main sources of energy for cells, existing in two forms: ATP and GTP. ATP is responsible for most of the energy requirements, while GTP is the source of protein synthesis. However, the two forms must be balanced in order for cells to function properly. According to Gleeson, the mutation of AMPD2 results in the accumulation of ATP and the depletion of GTP, an imbalance that ultimately leads to neurodegeneration.

Upon this discovery, the researchers theorized they could bypass this GTP block by giving patients a nutritional supplement. They found that a non-toxic performance enhancing drug known as AICAR, a purified form of GTP, could restore balance to the cells. The supplement was tested in genetic models of the disease, as well as human cells in vitro, and the treatment successfully rescued the cells from degeneration and death.

Gleeson cautions families against buying this drug and testing it on their children independently, as researchers are still unaware of any potential side effects the supplements could have in humans with pontocerebellar hypoplasia. However, he is hopeful that AICAR will soon be developed into a drug by pharmaceutical companies, providing a model of treatment for other neurodegenerative disorders.

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DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/32zzzl/stem_cell) has announced the addition of the "Stem Cell Research: Opportunities, Tools & Technologies" report to their offering.

To facilitate research resulting from interest in the far-ranging applications of stem cells, a large and growing stem cells research products market has emerged. Large companies selling stem cell research products include Life Technologies, BD Biosciences, Thermo Fisher Scientific, and Millipore, although dozens of other suppliers exist as well. Products offered by these companies include: antibodies to stem cell antigens, bead-based stem cell separation systems, stem cell protein purification and analysis tools, tools for DNA and RNA-based characterization of stem cells, stem cell culture and media reagents, stem cell specific growth factors and cytokines, tools for stem cell gene regulation, a range of stem cell services, tools for in vivo and in vitro stem cell tracking, and stem cell lines.

Currently, the federal government is an important, although not dominant, source of funding for stem cell research. The reason is that states are spending almost as much as the federal government on stem cell research and are actually spending more than the federal government on human embryonic stem cell (hESC) research. Private sources also contribute a huge about of funding, with analysis of recent large gifts summing to over $1.7 billion.

Furthermore, growth in research into stem cells has exploded in the past decade. And so the market to supply stem cell research products has grown to meet this huge demand.

This report identifies, defines, and quantifies each market segment within the stem cell product industry, including Stem Cell Research Products, Stem Cell Antibodies, and Stem Cell Therapies.

Because of the massive size of this market, developing either niche products or a diverse stem cell product line represents a significant opportunity for research supply companies. This report explores current market conditions and provides guidance for companies interested in developing strategically positioned stem cell product lines.

Featured elements of this report include:

- What are novel stem cells research products that can be developed?

- What stem cells types are most frequently used by research scientists?

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Research and Markets: The Stem Cell Research Market: A Comprehensive Guide on Market Conditions for Companies ...

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Public release date: 31-Jul-2013 [ | E-mail | Share ]

Contact: Yivsam Azgad news@weizmann.ac.il 972-893-43856 Weizmann Institute of Science

One of life's most basic processes -- transcription of the genetic code -- resembles road traffic, including traffic jams, accidents and a police force that controls the flow of vehicles. This surprising finding, reported recently by Weizmann Institute researchers in Nature Communications, might facilitate the development of a new generation of drugs for a variety of disorders.

Transcription indeed involves a step resembling the motion of a vehicle: Enzymes "ride" along gene "tracks," creating molecules that will later be translated into the various proteins involved in the life of the cell. In the new study, a research team headed by Prof. Rivka Dikstein of the Biological Chemistry Department has found that just as on the road, maintaining a reasonable distance between the vehicles -- that is, the transcribing enzymes -- is the surest way to reach a destination safely. In addition to Dikstein, the team included Dr. Nadav Marbach-Bar, Amitai Ben-Noon, Shaked Ashkenazi, Ana Tamarkin-Ben Harush, Dr. Tali Avnit-Sagi and Prof. Michael Walker.

The scientists tracked the transcription of genes coding for tiny regulatory molecules called microRNAs. Working with human cells, they experimented with different rates of transcription: a high rate, in which the enzymes are launched in bursts, and a low one, in which the enzymes are launched individually, at greater intervals. The experiments yielded a paradoxical finding: When the transcription enzymes were launched in bursts, the amount of the resultant microRNA dropped; conversely, when the enzymes were launched at greater intervals, production of microRNA was more efficient.

It turned out that when the enzymes were launched in bursts, one rapidly following the next, they ended up in a traffic jam: When the first enzyme paused at a "road bump" -- a molecular signal that creates a pause in transcription -- the enzymes that followed crashed into it, falling off the gene. Naturally, such "traffic accidents" reduced the amount of resultant microRNA. In contrast, when the enzymes were launched one by one, they maintained a safe distance: Each had sufficient time to slow down at the "bump" and to succeed at creating a microRNA molecule. In other words, the lower rate of release of individual enzymes proved to be a more efficient method for creating microRNAs.

Because these findings shed new light on the manufacture of microRNAs, they might help in the design of drugs based on these molecules. Discovered as recently as in the 1990s, microRNAs hold great promise for serving as future therapeutics because they can help control gene expression -- for example, blocking the activity of cancer-causing genes. This ability is particularly valuable when a molecular process needs to be manipulated at the deepest possible level, inside the cell nucleus.

In a more fundamental sense, the new study helps reveal how transcription is regulated. For example, the study has shown that in inflammation, when the body is threatened with invasion by a virus or bacterium, the release of anti-inflammatory microRNAs is temporarily suspended. The suspension occurs because inflammation increases the launch rate of transcription enzymes, creating traffic jams that reduce the production of the microRNA. This reduction, in turn, "buys time" for the inflammation, giving it a chance to perform its healing function before it is terminated by the microRNA.

Finally, this study helps explain an earlier finding in Dikstein's lab: In longer genes, transcription enzymes tend to be launched at a low rate, that is, at great intervals. The longer the gene, the greater the risk that it has molecular "bumps" that can create traffic jams, derailing transcription. Therefore, transcription enzymes riding along such genes at a lower rate can do their job more efficiently than the enzymes launched in rapid bursts.

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Gene decoding obeys road traffic rules

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July 31, 2013

By the time the purple flowers of witchweed have bloomed, the crops have already been lost. John Yoder hopes his gene research can stop the weed. (John Yoder/UC Davis photo)

An international research team, including a University of California, Davis, plant scientist, is using the molecular magic of gene sequencing and transfer to break the stranglehold of witchweed and other parasitic plants that annually cause billions of dollars in crop losses around the world.

Joining forces through the Parasitic Plant Genome Project, funded by the National Science Foundation, UC Davis Professor John Yoder and colleagues are identifying the genome-wide changes that have evolved to equip this intriguing but often devastating group of wild plants to develop their parasitic lifestyle.

We know that parasitic plants evolved from non-parasitic plants, so we take an evolutionary approach and ask, What are the genetic changes that make a plant parasitic, and what are the genetic consequences once a plant becomes a parasite? said Yoder, whose lab in the UC Davis Department of Plant Sciences is contributing to the Parasitic Plant Genome Project. The next stage is to identify critical parasite genes and pathways and use this information to develop parasite-resistant crops, he said.

In a May cover article for the journal Molecular Plant-Microbe Interactions, Yoder and co-author Pradeepa C.G. Bandaranayake of the University of Peradeniya, Sri Lanka, demonstrated a new strategy for engineering within host plants a killer DNA molecule that is toxic to at least one species of Orobanchaceae. This family of almost 2,000 parasitic plant species includes some of the worlds worst agricultural pests, notably Striga or witchweed and Orobanche, also known as broomrape.

Striga, for example, has a reputation for covertly destroying crop fields. By the time the purple flowers of this parasitic weed have bloomed, the field is already ruined. Removed from the soil, Striga can return decades later through dormant seeds. The infestations are particularly devastating to staple crops like rice, maize, millet and sorghum in sub-Saharan Africa and the Middle East.

Because Striga and Orobanche can be so invasive, researchers in the Yoder lab instead use in their studies the closely related parasitic plant Triphysaria, or dwarf owls clover, which is native to California.

The recently published study showed that an inhibitory RNA gene-transfer technique could reduce by 80 percent the viability of Triphysaria roots after the parasite has attached to the genetically modified host.

A $3.4 million grant, recently awarded by the National Science Foundation to the Parasitic Plant Genome Project, will enable Yoder and his research colleagues to conduct controlled laboratory experiments that will be followed by field testing in Israel, Kenya or Morocco.

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Gene sequencing targets witchweed and other destructive parasitic plants

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Speech to Bono concerning Monsanto by Marenka
Bono and Monsanto Forum for Conscious Debate and Discovery on Facebook https://www.facebook.com/BonoMonsanto?ref=hl {You can join in supporting the objective...

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Speech to Bono concerning Monsanto by Marenka - Video

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Alien Genetic Engineering of YOU
Some interesting facts regarding human DNA strange artefacts that contradict the Darwinian theory of Human evolution. You have to see it to believe it.. Are ...

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SAN DIEGO and IRVINE, Calif., Aug. 1, 2013 /PRNewswire/ -- Sequenom, Inc. (SQNM), a life sciences company providing innovative diagnostic testing and genetic analysis solutions, and CombiMatrix Corporation (CBMX), a molecular diagnostics laboratory performing DNA-based testing services for developmental disorders and cancer, today jointly announced that the Sequenom Center for Molecular Medicine LLC (Sequenom CMM) and CombiMatrix have entered into a collaboration agreement to market chromosomal microarray analysis (CMA) testing services to broaden and confirm the results of noninvasive, prenatal testing (NIPT) to physicians and their patients.

Under the agreement, the two laboratories will collaboratively use their respective marketing channels and sales forces to promote the use of NIPT and CMA and work together to provide technical training to physicians and counseling, education and support services to physicians and their patients. The two companies plan to provide, when clinically appropriate, a comprehensive test result report for ordering physicians.

Sequenom is a global leader in the NIPT market, and Sequenom CMM, its wholly owned subsidiary laboratory, developed the MaterniT21TM PLUS laboratory-developed test (LDT), a widely-ordered, noninvasive prenatal testing service for fetal chromosomal abnormalities. CombiMatrix is one of the few independent laboratories that specialize in CMA, the primary genetic test to evaluate newborns with birth defects that is now being more widely used for prenatal testing.

"The MaterniT21 PLUS test is the premier, noninvasive prenatal test on the market today, and for an important group of patients a chromosomal microarray test can be a significant adjunct for a comprehensive prenatal analysis," said Bill Welch, President and COO of Sequenom, Inc. "CombiMatrix specializes in CMA and their technology helps further expand our product offering in the growing prenatal genetic testing marketplace."

"The collaboration with Sequenom CMM is a significant validation of the rapidly expanding acceptance of CMA as a standard of prenatal care as well as an endorsement of the services CombiMatrix provides," noted CombiMatrix CEO Mark McDonough.

"We are focused on establishing CombiMatrix as the premier specialty laboratory for chromosomal microarray analysis for prenatal testing," McDonough said. "The fact that Sequenom CMM has joined forces with us and selected us for this collaborative testing relationship demonstrates that we have made great strides in reaching our goal."

The MaterniT21 PLUS test analyzes the relative amount of 21, 18, 13, as well as X and Y chromosomal material in cell-free DNA. The test is intended for use in pregnant women at increased risk for fetal aneuploidy and can be used as early as 10 weeks' gestation.Estimates suggest there are about 750,000 pregnancies at increased risk for fetal aneuploidy each year in the United States. The MaterniT21 PLUS test is available exclusively through the Sequenom CMM as a testing service provided to physicians. To learn more about the test, please visit http://www.Sequenomcmm.com.

About SequenomSequenom, Inc. (SQNM) is a life sciences company committed to improving healthcare through revolutionary genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve discovery and clinical research, and molecular diagnostics markets. The company was founded in 1994 and is headquartered in San Diego, California. Sequenom maintains a Web site at http://www.sequenom.com to which Sequenom regularly posts copies of its press releases as well as additional information about Sequenom. Interested persons can subscribe on the Sequenom Web site to email alerts or RSS feeds that are sent automatically when Sequenom issues press releases, files its reports with the Securities and Exchange Commission or posts certain other information to the Web site.

About Sequenom Center for Molecular MedicineSequenom Center for Molecular Medicine (Sequenom CMM) is a CAP accredited and CLIA-certified molecular diagnostics reference laboratory currently with three locations dedicated to the development and commercialization of laboratory developed tests for prenatal and eye conditions and diseases. Utilizing innovative proprietary technologies, Sequenom CMM provides test results that can be used by health care professionals in managing patient care. Testing services are available only upon request by physicians. Sequenom CMM works closely with key opinion leaders and experts in obstetrics, retinal care and genetics. Sequenom CMM scientists use a variety of sophisticated and cutting-edge methodologies in the development and validation of tests. Sequenom CMM is changing the landscape in genetic diagnostics. Visit http://www.sequenomcmm.com for more information on laboratory testing services.

SEQUENOM, MaterniT21 and MaterniT21 PLUS are trademarks of Sequenom, Inc. All other trademarks and service marks are the property of their respective owners.

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Sequenom And CombiMatrix Announce Collaboration Agreement To Market Chromosomal Microarray Analysis For Prenatal Testing

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Public release date: 31-Jul-2013 [ | E-mail | Share ]

Contact: Mount Sinai Press Office newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine

The Icahn School of Medicine at Mount Sinai is partnering with the Institute for Family Health to launch the first-ever genetic testing program in the primary care setting to identify genetic risk for kidney disease in patients with hypertension.

The program will be funded through a $3.7 million grant from the National Human Genome Research Institute of the National Institutes of Health. Primary-care providers will use patients' genomic information at the point-of-care to individualize treatment, testing and monitoring with Mount Sinai's Clinical Implementation of Personalized Medicine through Electronic Health Records and Genomic Program, or CLIPMERGE, a novel clinical-decision support engine for delivering guidelines with genetic variants of clinical significance to enhance treatment.

Recent research has shown that one in eight African Americans have two copies of a version of the APOL1 gene, putting them at four to five times greater risk for developing chronic kidney disease or end-stage kidney disease if they have hypertension, or high blood pressure.

"Many patients do not have their blood pressure adequately controlled," said Erwin Bottinger, MD, Director of the Charles Bronfman Institute for Personalized Medicine at the Icahn School of Medicine at Mount Sinai, and one of two principal investigators of the grant. "We believe that with genomic information made available to doctors through a patient's electronic health record, we will be able to achieve better and stricter control of blood pressure and targeted use of medications that inhibit the renin angiotensin system, which are recommended in hypertensive patients at risk for kidney disease. More comprehensive tracking will also help ensure that optimal tests will be performed to stop progression of kidney disease."

A cluster-randomized controlled trial will be conducted at 12 primary care sites in New York, including practices at The Mount Sinai Medical Center and the Institute for Family Health, which operates an independent network of community health centers in Manhattan and the Bronx.

"Genes are another piece of the puzzle that may help explain why people of African descent have poorer health outcomes than people of European descent," said Carol Horowitz, MD, MPH, co-principal investigator and co-director of the Icahn School of Medicine at Mount Sinai's new Center for Health Equity and Community Engaged Research. "We look forward to engaging with and helping educate our multicultural community partners, providers, and patients about the emerging role genetic testing will play in improving health."

Neil Calman, MD, President and Chief Executive Officer of the Institute for Family Health, and Professor and Chair of Family Medicine and Community Health at Mount Sinai said, "Community-based primary care physicians have had little opportunity to incorporate genomics into the care of patients, and this grant offers us a tremendous opportunity. We hope to screen patients, identify those with increased genetic risk and work with them to prevent kidney disease. We will also train community-based primary care providers in how to discuss genetic risk with patients and their families and how to use genetic-based information in the electronic health record."

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Mount Sinai launches first-ever genetic testing program in the primary care setting

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Public release date: 30-Jul-2013 [ | E-mail | Share ]

Contact: Shaun Mason smason@mednet.ucla.edu 310-206-2805 University of California - Los Angeles

UCLA scientists, in collaboration with teams in China, have used the powerful technology of single-cell RNA sequencing to track the genetic development of a human and a mouse embryo at an unprecedented level of accuracy.

The technique could lead to earlier and more accurate diagnoses of genetic diseases, even when the embryo consists of only eight cells.

The study was led by Guoping Fan, professor of human genetics and molecular biology and member of both the Jonsson Comprehensive Cancer Center and the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research. The findings were published in the online edition of the journal Nature and will appear later in the print edition.

Single-cell RNA sequencing allows researchers to determine the precise nature of the total gene transcripts, or all of the genes that are actively expressed in a particular cell.

"The advantages of this technique are twofold," Fan said. "It is a much more comprehensive analysis than was achievable before and the technique requires a very minimal amount of sample material just one cell."

Besides its implications for genetic diagnoses such as improving scientists' ability to identify genetic mutations like BRCA1 and BRCA2, which predispose women to breast cancer and ovarian cancer, or genetic diseases that derive from protein dysfunction, such as sickle cell disease the technology may also have important uses in reproductive medicine.

The technique marks a major development in genetic diagnoses, which previously could not be conducted this early in embryonic development and required much larger amounts of biological material.

"Previous to this paper we did not know this much about early human development," said Kevin Huang, the study's co-first author and a postdoctoral scholar in Fan's laboratory. "Now we can define what 'normal' looks like, so in the future we will have a baseline from which to compare possible genetic problems. This is our first comprehensive glance at what is normal."

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UCLA and Chinese scientists analyze genetic makeup of human and mouse embryos in amazing detail

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July 31, 2013 Recent technological developments in genomics have revealed a large number of genetic influences on common complex diseases, such as diabetes, asthma, cancer or schizophrenia. However, discovering a genetic variant predisposing to a disease is only a first step. To apply this knowledge towards prevention or cure, including tailoring treatment to the patient's genetic profile -also known as personalized medicine -- we need to know how this genetic variant affects health.

In a study published today in Nature Communications, Dr. Constantin Polychronakos from the Research Institute of the McGill University Health Centre (RI-MUHC), and collaborators from McGill University and The University of Texas, propose a novel approach for scanning the entire genome that will help us understand the effect of genes on human traits.

"This completely new methodology really opens up different ways of understanding how the genome affects the biology of the human body," says Dr. Polychronakos, corresponding author of the study and Director of the Endocrine Genetics Laboratory at the Montreal Children's Hospital and Professor in the Departments of Pediatrics and Human Genetics at McGill University.

DNA is the blueprint according to which our body is constructed and functions. Cells "read" this blueprint by transcribing the information into RNA, which is then used as a template to construct proteins -- the body's building blocks. Genes are scanned based on the association of their RNA with ribosomes -- particles in which protein synthesis takes place.

"Until now, researchers have been focusing on the effects of disease-associated genomic variants on DNA-to-RNA transcription, instead of the challenging question of effects on RNA-to-protein translation," says Dr. Polychronakos. "Thanks to this methodology, we can now better understand the effect of genetic variants on translation of RNA to protein -- a powerful way of developing biomarkers for personalized medicine and new therapies."

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Understanding the effects of genes on human traits

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July 31, 2013 UCLA scientists, in collaboration with teams in China, have used the powerful technology of single-cell RNA sequencing to track the genetic development of a human and a mouse embryo at an unprecedented level of accuracy.

The technique could lead to earlier and more accurate diagnoses of genetic diseases, even when the embryo consists of only eight cells.

The study was led by Guoping Fan, professor of human genetics and molecular biology and member of both the Jonsson Comprehensive Cancer Center and the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research. The findings were published in the online edition of the journal Nature and will appear later in the print edition.

Single-cell RNA sequencing allows researchers to determine the precise nature of the total gene transcripts, or all of the genes that are actively expressed in a particular cell.

"The advantages of this technique are twofold," Fan said. "It is a much more comprehensive analysis than was achievable before and the technique requires a very minimal amount of sample material -- just one cell."

Besides its implications for genetic diagnoses -- such as improving scientists' ability to identify genetic mutations like BRCA1 and BRCA2, which predispose women to breast cancer and ovarian cancer, or genetic diseases that derive from protein dysfunction, such as sickle cell disease -- the technology may also have important uses in reproductive medicine.

The technique marks a major development in genetic diagnoses, which previously could not be conducted this early in embryonic development and required much larger amounts of biological material.

"Previous to this paper we did not know this much about early human development," said Kevin Huang, the study's co-first author and a postdoctoral scholar in Fan's laboratory. "Now we can define what 'normal' looks like, so in the future we will have a baseline from which to compare possible genetic problems. This is our first comprehensive glance at what is normal."

With single-cell RNA sequencing, much more gene transcription was detected than before. "The question we asked is, 'How does the gene network drive early development from one cell to two cells, two cells to four cells, and so on?'" Fan said. "Using the genome data analysis methods developed by co-author Steve Horvath at UCLA, we have uncovered crucial gene networks and we can now predict possible future genetic disorders at the eight-cell stage."

The research was supported by the Chinese Ministry of Science and Technology, the International Science and Technology Cooperation Program of China, and the National Natural Science Foundation of China.

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Scientists analyze genetic makeup of human and mouse embryos in amazing detail

Recommendation and review posted by Bethany Smith

Newswise The Icahn School of Medicine at Mount Sinai is partnering with the Institute for Family Health to launch the first-ever genetic testing program in the primary care setting to identify genetic risk for kidney disease in patients with hypertension.

The program will be funded through a $3.7 million grant from the National Human Genome Research Institute of the National Institutes of Health. Primary-care providers will use patients genomic information at the point-of-care to individualize treatment, testing and monitoring with Mount Sinais Clinical Implementation of Personalized Medicine through Electronic Health Records and Genomic Program, or CLIPMERGE, a novel clinical-decision support engine for delivering guidelines with genetic variants of clinical significance to enhance treatment.

Recent research has shown that one in eight African Americans have two copies of a version of the APOL1 gene, putting them at four to five times greater risk for developing chronic kidney disease or end-stage kidney disease if they have hypertension, or high blood pressure.

Many patients do not have their blood pressure adequately controlled, said Erwin Bottinger, MD, Director of the Charles Bronfman Institute for Personalized Medicine at the Icahn School of Medicine at Mount Sinai, and one of two principal investigators of the grant. We believe that with genomic information made available to doctors through a patients electronic health record, we will be able to achieve better and stricter control of blood pressure and targeted use of medications that inhibit the renin angiotensin system, which are recommended in hypertensive patients at risk for kidney disease. More comprehensive tracking will also help ensure that optimal tests will be performed to stop progression of kidney disease.

A cluster-randomized controlled trial will be conducted at 12 primary care sites in New York, including practices at The Mount Sinai Medical Center and the Institute for Family Health, which operates an independent network of community health centers in Manhattan and the Bronx.

Genes are another piece of the puzzle that may help explain why people of African descent have poorer health outcomes than people of European descent, said Carol Horowitz, MD, MPH, co-principal investigator and co-director of the Icahn School of Medicine at Mount Sinai's new Center for Health Equity and Community Engaged Research. We look forward to engaging with and helping educate our multicultural community partners, providers, and patients about the emerging role genetic testing will play in improving health.

Neil Calman, MD, President and Chief Executive Officer of the Institute for Family Health, and Professor and Chair of Family Medicine and Community Health at Mount Sinai said, Community-based primary care physicians have had little opportunity to incorporate genomics into the care of patients, and this grant offers us a tremendous opportunity. We hope to screen patients, identify those with increased genetic risk and work with them to prevent kidney disease. We will also train community-based primary care providers in how to discuss genetic risk with patients and their families and how to use genetic-based information in the electronic health record.

About the Charles Bronfman Institute for Personalized Medicine The Charles Bronfman Institute for Personalized Medicine at the Icahn School of Medicine at Mount Sinai aims to refine disease risk assessment and improve responsiveness to treatments through genomic medicine and data-driven care.

About The Center for Health Equity and Community Engaged Research Founded in 2012, The Center for Health Equity and Community Engaged Research's mission is to improve the health and health care of underserved populations by identifying causes of disparities in health and health care; developing and testing community-partnered, sustainable interventions; and disseminating lessons learned to inform policy and systems change.

About The Institute for Family Health The Institute for Family Health is one of the largest networks of community health centers in the country. The Institute is committed to high-quality, affordable health care for all, regardless of ability to pay, and remains committed to primary care research that informs health policy and practice change.

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Genetic Testing for Kidney Disease Among African-Americans With Hypertension to Become Part of Primary Care Offerings ...

Recommendation and review posted by Bethany Smith

LOS ANGELES, July 31, 2013 (GLOBE NEWSWIRE) -- Response Genetics, Inc. (RGDX), a company focused on the development and sale of molecular diagnostic tests that help determine a patient's response to cancer therapy, will announce its second quarter 2013 financial results and give an operational update in a press release to be issued before the market opens on Thursday, August 8, 2013. The company will host a conference call that same day at 10:00 a.m. EDT to discuss its financial results.

CONFERENCE CALL DETAILS

To access the conference call by phone on August 8 at 10:00 a.m. EDT, dial (800) 537-0745 or (253) 237-1142 for international participants. A telephone replay will be available beginning approximately two hours after the call through August 10, 2013, and may be accessed by dialing (855) 859-2056 or (404) 537-3406. The conference passcode for both the live call and replay is 25563258.

To access the live and archived webcast of the conference call, go to the Investor Relations section of the Company's Web site at http://investor.responsegenetics.com. It is advised that participants connect at least 15 minutes prior to the call to allow for any software downloads that might be necessary.

About Response Genetics, Inc.

Response Genetics, Inc. (the "Company") is a CLIA-certified clinical laboratory focused on the development and sale of molecular diagnostic testing services for cancer. The Company's technologies enable extraction and analysis of genetic information derived from tumor cells stored as formalin-fixed and paraffin-embedded specimens. The Company's principal customers include oncologists and pathologists. In addition to diagnostic testing services, the Company generates revenue from the sale of its proprietary analytical pharmacogenomic testing services of clinical trial specimens to the pharmaceutical industry. The Company's headquarters is located in Los Angeles, California. For more information, please visit http://www.responsegenetics.com.

Forward-Looking Statement Notice

Except for the historical information contained herein, this press release and the statements of representatives of the Company related thereto contain or may contain, among other things, certain forward-looking statements, within the meaning of the Private Securities Litigation Reform Act of 1995.

Such forward-looking statements involve significant risks and uncertainties. Such statements may include, without limitation, statements with respect to the Company's plans, objectives, projections, expectations and intentions, such as the ability of the Company, to provide clinical testing services to the medical community, to continue to strengthen and expand its sales force, to continue to build its digital pathology initiative, to attract and retain qualified management, to continue to strengthen marketing capabilities, to expand the suite of ResponseDX(R) products, to continue to provide clinical trial support to pharmaceutical clients, to enter into new collaborations with pharmaceutical clients, to enter into areas of companion diagnostics, to continue to execute on its business strategy and operations, to continue to analyze cancer samples and the potential for using the results of this research to develop diagnostic tests for cancer, the usefulness of genetic information to tailor treatment to patients, and other statements identified by words such as "project," "may," "could," "would," "should," "believe," "expect," "anticipate," "estimate," "intend," "plan" or similar expressions.

These statements are based upon the current beliefs and expectations of the Company's management and are subject to significant risks and uncertainties, including those detailed in the Company's filings with the Securities Exchange Commission. Actual results, including, without limitation, actual sales results, if any, or the application of funds, may differ from those set forth in the forward-looking statements. These forward-looking statements involve certain risks and uncertainties that are subject to change based on various factors (many of which are beyond the Company's control). The Company undertakes no obligation to publicly update forward-looking statements, whether because of new information, future events or otherwise, except as required by law.

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Response Genetics, Inc. to Release Second Quarter 2013 Financial Results and Host Conference Call on August 8, 2013

Recommendation and review posted by Bethany Smith

Seattle Genetics, Inc.(SGEN) reported second quarter 2013 net loss per share of 6 cents, narrower than the Zacks Consensus Estimate of a loss of 18 cents and the year-ago loss of 15 cents per share.

Second quarter revenues were $73.6 million, compared with $48.8 million in the year-ago quarter. Revenues surpassed the Zacks Consensus Estimate of $57 million.

Net revenues for the second quarter included Adcetris revenues (up 3% to $35.7 million), collaboration and license agreement revenues (up 165.9% to $34.3 million) and royalty revenues (up 185.9% to $3.5 million).

Research and development expenses increased 22.3% year over year to $52.3 million driven by Adcetris development activities and higher investment in other antibody-drug conjugate (ADC) programs. Selling, general and administrative (SG&A) expenses rose by 18.5% year over year to $23.5 million. SG&A expenses increased due to Adcetris-related sales and marketing activities.

Pipeline Update

Seattle Genetics is working on expanding Adcetris' label. In May 2013, Seattle Genetics submitted a supplemental biologics license application (sBLA) for the use of Adcetris in the retreatment of patients and for extended duration of use beyond 16 cycles of therapy. The U.S. Food and Drug Administration (FDA) did not approve Adcetris in this retreatment setting. Seattle Genetics will further interact with the FDA regarding the new data required for approval.The FDA has asked to remove the limitation of 16-cycles timeframe from the label.

Adcetris is approved for the treatment of relapsed or refractory Hodgkin lymphoma (HL) and systemic anaplastic large cell lymphoma (sALCL).

Meanwhile, Seattle Genetics discontinued the development of ASG-5ME (phase I) for prostate, gastric and pancreatic cancer.

Seattle Genetics has collaborations with various companies for the development of ADCs. ADC collaborators are progressing on various programs.

Seattle Genetics and Bayer (BAYRY) entered into an alliance in Jun 2013. This deal will allow Bayer to gain worldwide rights to Seattle Genetics' auristatin-based ADC technology along with antibodies to several oncology targets.

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Narrower-than-Expected Loss at Seattle Genetics - Analyst Blog

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Seattle Genetics reports narrower 2Q loss

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

Ambry Genetics, the worldwide leader in hereditary cancer testing, announced today that it has officially launched its next-generation sequencing (NGS) renal, pancreatic and paraganglioma-pheochromocytoma (PGL/PCC) hereditary cancer panels.

Ambry Genetics was the first commercial laboratory to launch hereditary cancer panels using NGS in 2012 with their comprehensive BreastNext, OvaNext, ColoNext and CancerNext products. With hundreds of clinics and institutions utilizing these panels, Ambry has established itself as the scientific leaders in multi-gene cancer panel testing.

As of today, Ambry Genetics continues to offer the most comprehensive hereditary cancer testing available, said Elizabeth Chao, MD, Chief Medical Officer of Ambry Genetics. As one example, pancreatic cancer is one of the deadliest and most incurable forms of the disease. Our test analyzes 13 genes simultaneously, and identifying a mutation in any one of those genes can lead to treatment options, including prevention. Thats what this type of genetic testing can offer.

Ambrys new offerings include an 18 gene renal cancer panel (RenalNext), 13 gene pancreatic cancer panel (PancNext) and 10 gene PGL/PCC panel (PGLNext). Previously, many of the genes on these panels could be ordered individually using traditional Sanger sequencing. The introduction of Ambrys new NGS panel offerings allows all causative genes to be tested concurrently, saving time and money.

I cant imagine a more exhilarating place to be right now, said AJ Stuenkel, Certified Genetic Counselor at Ambry Genetics. Ambry is buzzing with excitement and a sense of purpose as we embrace recent scientific advances and continue to introduce novel testing options at an unmatched pace.

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 Orange County, California. 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 for over a decade 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 Reaffirms Status as Worldwide Leader in Hereditary Cancer Testing with New Renal, Pancreatic and PGL ...

Recommendation and review posted by Bethany Smith

Seattle Genetics (NASDAQ: SGEN) announced its results from the second quarter after the market closed on Wednesday. Here are three things you need to know from the the latest update.

1. Adcetris commercialization is advancing nicely.The company's mainstay product, Adcetris, is now approved in 35 countries with Seattle Genetics' partner Takeda/Millenium recently obtaining a regulatory thumbs-up in South Korea. Takeda also submitted for approval in Japan earlier this year.

Total revenue for the second quarter was $73.6 million, with product sales for Adcetris comprising $35.7 million. Royalties from Takeda/Millenium made up an additional $3.5 million. Net sales for the drug -- which is used to treatHodgkin lymphoma andanaplastic large cell lymphoma, or ALCL -- climbed 5% year-over-year.

Seattle Genetics' data shows that Adcetris now has a penetration rate of more than 70%. The company feels comfortable in stating that the drug has now become the standard of care for ALCL and Hodgkin lymphoma. It also has noticed increasing use of Adcetris for off-label uses, although this isn't considered to be a significant part of the business at this point.

Recent discussions with the U.S. Food and Drug Administration led to good news and bad news. The good news is that the company thinks that the FDA will allow it to remove the 16-cycle limitation on duration of use from the Adcetris label. The bad news is that the FDA didn't approve including use of the drug in a retreatment setting. Seattle Genetics intends to pursue the retreatment option further with the agency.

2. The pipeline is percolating.Seattle Genetics counts nine clinical studies under way for Adcetris with the hopes of expanding indications for the drug. Four of these are late-stage studies, four are mid-stage, and one is in phase 1. The company also has four other drugs in phase 1 studies.

The ongoing phase 3 study of Adcetris in treating relapsed diffused large B-cell lymphoma, or DLBCL, shows perhaps the most promise right now. Interim data found a response rate of 44%, with 81% of patients achieving tumor reduction. These positive results have prompted the company to initiate a phase 2 study for newly diagnosed DLBCL patients.

CEO Clay Siegall addressed one concern about Hodgkin lymphoma patients taking Adcetris who developed pancreatitis. Siegall said that the incidence of pancreatitis in all patients treated with Adcetris is 0.16%. He stated that this relatively low risk shouldn't impact plans for Adcetris and noted that several other cancer drugs on the market have been linked to an increased risk of pancreatitis.

3. Collaboration continues.Nearly $34.3 million of Seattle Genetics' total revenue stemmed from payments from collaboration partners. $12 million of this figure was from a new partnership with Bayer Healthcare. Several other large companies have been attracted to Seattle Genetics' antibody-drug conjugate, or ADC, technology in recent years.

AbbVie (NYSE: ABBV) inked a potential $245 million deal with Seattle Genetics last year. The arrangement included an upfront payment of $25 million and potential milestone payments up to $220 million. This expanded an agreement between the two companies made in 2011.

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3 Things You Need to Know From Seattle Genetics' Q2 Update

Recommendation and review posted by Bethany Smith

BOTHELL, Wash.--(BUSINESS WIRE)--

Seattle Genetics, Inc. (SGEN) today reported financial results for the second quarter and six months ended June 30, 2013. The company also highlighted ADCETRIS (brentuximab vedotin) commercialization and clinical development activities, antibody-drug conjugate (ADC) pipeline and collaborator updates and upcoming milestones.

During the second quarter, we continued to make strong progress on our key corporate priorities, including the commercialization of ADCETRIS, the broad clinical development of ADCETRIS in CD30-positive malignancies and the advancement of our product pipeline, said Clay B. Siegall, Ph.D., President and Chief Executive Officer at Seattle Genetics. ADCETRIS is now approved in 35 countries, and our clinical development program comprises more than 20 ongoing clinical trials, including four phase 3 studies. We recently expanded our clinical-stage product pipeline by moving SGN-CD33A, which utilizes our newest ADC technology, into a phase 1 trial and exercising our option to co-develop ASG-15ME with Agensys/Astellas. We also entered into a new ADC collaboration with Bayer.

Recent ADCETRIS Activities

ADCETRIS is currently not approved for use in frontline HL, frontline MTCL, CTCL, first relapse HL patients eligible for a transplant or the B-cell and T-cell non-Hodgkin lymphoma subtypes referenced above.

ADC Pipeline Updates

ADC Collaborator Highlights

Upcoming Milestones

Second Quarter and Six Months Financial Results

Total revenues in the second quarter of 2013 were $73.6 million, compared to $48.8 million in the second quarter of 2012. Revenues for the six month period ended June 30, 2013 were $130.9 million, compared to $97.1 million for the same period in 2012. Revenues in 2013 included ADCETRIS net product sales of $35.7 million in the second quarter and $69.7 million for the year-to-date. Revenues in 2013 also included ADCETRIS royalty revenues of $3.5 million for the second quarter and $5.9 million for the year-to-date from international sales of ADCETRIS by Takeda/Millennium. Revenues also reflect amounts earned under the companys ADCETRIS and ADC collaborations totaling $34.3 million in the second quarter of 2013 and $55.3 for the year-to-date in 2013. Collaboration revenues increased in 2013 driven by the companys ADCETRIS collaboration with Takeda/Millennium as well as ADC collaborations, including the new collaboration with Bayer.

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Seattle Genetics Reports Second Quarter 2013 Financial Results

Recommendation and review posted by Bethany Smith

Hello Doctor Zee 24 Taas Dr Nandini Gokulchandran talks about Stem Cell Therapy Treatments
Hello Doctor Zee 24 Taas Dr Nandini Gokulchandran talks about Stem Cell Therapy Treatments. Telecast on 23/6/2013 Stem Cell Therapy done at Dr Alok Sharma Ne...

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Hello Doctor Zee 24 Taas Dr Nandini Gokulchandran talks about Stem Cell Therapy Treatments - Video

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Stem Cell Therapy for Knees

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Stem Cell Therapy for Knees - Video

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Sports Spinal Cord Injury
Sports concussions may grab the headlines, but many athletes feel the affects of a violent collision, below the helmet - suffering catastrophic spinal cord i...

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