ScienceDaily (Oct. 10, 2012) Huntington's disease (HD) is an inherited genetic disorder caused by the multiple repetition of a DNA sequence (the nucleotides CAG) in the gene encoding a protein called "Huntingtin". People who do not suffer from the disease have this sequence repeated 10 to 29 times. But in an affected person, the triplet is present more than 35 times.

Huntingtin protein can be found in various tissues of the human body and is essential for the development and survival of neurons in adults. When the mutant gene is present, an aberrant form of the Hungtingtin protein is produced, causing the symptoms of the disease: involuntary movements, changes in behavior and dementia, among others. Although there are several promising studies, there is currently no cure for HD. There are only palliative treatments of symptoms, and Huntington's patients die about 15 years after the symptoms onset.

Unlike other neurodegenerative diseases (such as Alzheimer or Parkinson), only a single gene is responsible for HD (i.e. the disorders is monogenic), and a therapy based on the inhibition of the gene, will open new perspectives of research for the development of a treatment.

A recently developed tool by scientists around the world is based on the modification of proteins that are found naturally in all living beings. These proteins are called Zinc Finger proteins, and can recognize and bind to specific DNA sequences. This enables the regulation of those genes to which they are attached.

A study conducted by researchers of the Centre for Genomic Regulation (CRG) in Barcelona provides positive results reducing the chromosomal expression of the mutant gene, which would prevent the development of disease. The research is published in Early Edition by the journal Proceedings of the National Academy of Sciences (PNAS).

"We designed specific ZFP that recognize and specifically bind to more than 35 repetitions of CAG triplet, preventing the expression of the gene containing these repeats and reducing the production of the mutant Huntingtin protein. When applying this treatment to a transgenic mouse model carrying the human mutant Huntingtin gene, we observed a delayed onset of the symptoms, "says Mireia Garriga-Canut, first author of the study and researcher at the Gene Network Engineering group at the CRG. Another co-author of the study, Carmen Agustn Pavn, adds that "the next step is to optimize the design for an effective and durable treatment for patients. This would pave the way to find a therapy for Huntington's disease".

The research was funded by the FP7 program of the European Commission and the Ministry of Science and Innovation of Spain.

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It sounds like a scene from a TV show: Someone sends a discarded coffee cup to a laboratory where the unwitting drinker's DNA is decoded, predicting what diseases lurk in his or her future.

A presidential commission found that's legally possible in about half the states and says new protections to ensure the privacy of people's genetic information are critical if the nation is to realize the enormous medical potential of gene-mapping.

Such whole genome sequencing costs too much now for that extreme coffee-cup scenario to be likely. But the report being released Thursday says the price is dropping so rapidly that the technology could become common in doctors' offices very soon and there are lots of ethical issues surrounding how, when and with whom the results may be shared.

Without public trust, people may not be as willing to allow scientists to study their genetic information, key to learning to better fight disease, the report warns.

"If this issue is left unaddressed, we could all feel the effects," said Dr. Amy Gutmann, who chairs the Presidential Commission for the Study of Bioethical Issues.

Mapping entire genomes now is done primarily for research, as scientists piece together which genetic mutations play a role in various diseases. It's different than getting a lab test to see if you carry, say, a single gene known to cause breast cancer.

Gutmann said her commission investigated ahead of an anticipated boom in genome sequencing as the price drops from thousands today to about $1,000, cheaper than running a few individual gene tests.

AP

The sheer amount of information in a whole genome increases the privacy concerns. For example, people may have their genomes sequenced to study one disease that runs in the family, only to learn they're also at risk for something else with implications for relatives who may not have wanted to know.

Thursday's report shows a patchwork of protection. A 2008 federal law prohibits employers or health insurers from discriminating on the basis of genetic information, so that people don't put off a potentially important gene test for fear of losing their job or health coverage. But that law doesn't prevent denial of life insurance or long-term care insurance. Plus, there's little oversight of how securely genetic information is stored electronically, the report found.

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ScienceDaily (Oct. 11, 2012) A paper by Shizhong Han and colleagues in the current issue of Biological Psychiatry implicates a new gene in the risk for cannabis dependence. This gene, NRG1, codes for the ErbB4 receptor, a protein implicated in synaptic development and function.

The researchers set out to investigate susceptibility genes for cannabis dependence, as research has already shown that it has a strong genetic component.

To do this, they employed a multi-stage design using genetic data from African American and European American families. In the first stage, a linkage analysis, the strongest signal was identified in African Americans on chromosome 8p21. Then using a genome-wide association study dataset, they identified one genetic variant at NRG1 that showed consistent evidence for association in both African Americans and European Americans. Finally, they replicated the association of that same variant in an independent sample of African-Americans.

All together, the findings suggest that NRG1 may be a susceptibility gene for cannabis dependence.

An interesting feature of this paper is that these findings may also suggest a link between the genetics of schizophrenia and the genetics of cannabis dependence. NRG1 emerged into public awareness after a series of genetic studies implicated it in the heritable risk for schizophrenia. Subsequent studies in post-mortem brain tissue also suggested that the regulation of NRG1 was altered in the brains of individuals diagnosed with schizophrenia.

Thus, the current findings may help to explain the already established link between cannabis use and the risk for developing schizophrenia. A number of epidemiologic studies have attributed the association of cannabis use and schizophrenia to the effects of cannabis on the brain rather than a common genetic link between these two conditions.

"The current data provide a potentially important insight into the heritable risk for schizophrenia and raise the possibility that there are some common genetic contributions to these two disorders," commented Dr. John Krystal, Editor of Biological Psychiatry.

However, further research will be necessary to further confirm the role that NRG1 plays in cannabis dependence and the potential link between cannabis use and psychosis.

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ScienceDaily (Oct. 11, 2012) Scientists have observed the neurological mechanism behind temperature-dependent -- febrile -- seizures by genetically engineering fruit flies to harbor a mutation analogous to one that causes epileptic seizures in people. In addition to contributing the insight on epilepsy, their new study also highlights the first use of genetic engineering to swap a human genetic disease mutation into a directly analogous gene in a fly.

In a newly reported set of experiments that show the value of a particularly precise but difficult genetic engineering technique, researchers at Brown University and the University of California-Irvine have created a Drosophila fruit fly model of epilepsy to discern the mechanism by which temperature-dependent seizures happen.

The researchers used a technique called homologous recombination -- a more precise and sophisticated technique than transgenic gene engineering -- to give flies a disease-causing mutation that is a direct analogue of the mutation that leads to febrile epileptic seizures in humans. They observed the temperature-dependent seizures in whole flies and also observed the process in their brains. What they discovered is that the mutation leads to a breakdown in the ability of certain cells that normally inhibit brain overactivity to properly regulate their electrochemical behavior.

In addition to providing insight into the neurology of febrile seizures, said Robert Reenan, professor of biology at Brown and a co-corresponding author of the paper in the Journal of Neuroscience, the study establishes

"This is the first time anyone has introduced a human disease-causing mutation overtly into the same gene that flies possess," Reenan said.

Engineering seizures

Homologous recombination (HR) starts with the transgenic technique of harnessing a transposable element (jumping gene) to insert a specially mutated gene just anywhere into the fly's DNA, but then goes beyond that to ultimately place the mutated gene into exactly the same position as the natural gene on the X chromosome. HR does this by outfitting the gene to be handled by the cell's own DNA repair mechanisms, essentially tricking the cell into putting the mutant copy into exactly the right place. Reenan's success with the technique allowed him to win a special grant from the National Institutes of Health last year.

The new paper is a result of that grant and Reenan's collaboration with neurobiologist Diane O'Dowd at UC-Irvine. Reenan and undergraduate Jeff Gilligan used HR to insert a mutated version of the para gene in fruit flies that is a direct parallel of the mutation in the human gene SCN1A that causes febrile seizures in people.

When the researchers placed flies in tubes and bathed the tubes in 104-degree F water, the mutant fruit flies had seizures after 20 seconds in which their legs would begin twitching followed by wing flapping, abdominal curling, and an inability to remain standing. After that, they remained motionless for as long as half an hour before recovering. Unaltered flies, meanwhile, exhibited no temperature-dependent seizures.

The researchers also found that seizure susceptibility was dose-dependent. Female flies with mutant strains of both copies of the para gene (females have two copies of the X chromosome) were the most susceptible to seizures. Those in whom only one copy of the gene was a mutant were less likely than those with two to seize, but more likely than the controls.

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They're called discreet DNA samples, and the Elk Grove, California, genetic-testing company easyDNA says it can handle many kinds, from toothpicks to tampons.

Blood stains from bandages and tampons? Ship them in a paper envelope for paternity, ancestry or health testing. EasyDNA also welcomes cigarette butts (two to four), dental floss ("do not touch the floss with your fingers"), razor clippings, gum, toothpicks, licked stamps and used tissues if the more standard cheek swab or tube of saliva isn't obtainable.

If the availability of such services seems like an invitation to mischief or worse - imagine a discarded tissue from a prospective employee being tested to determine whether she's at risk for an expensive disease, for instance - the Presidential Commission for the Study of Bioethical Issues agrees.

On Thursday it released a report on privacy concerns triggered by the advent of whole genome sequencing, determining someone's complete DNA make-up. Although sequencing "holds enormous promise for human health and medicine," commission chairwoman Amy Gutmann told reporters on Wednesday, there is a "potential for misuse of this very personal data."

"In many states someone can pick up your discarded coffee cup and send it for (DNA) testing," said Gutmann, who is the president of the University of Pennsylvania.

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

Iverson Genetic Diagnostics, Inc. announced today an exclusive licensing agreement with Johns Hopkins University School of Medicine under which Iverson receives global exclusive commercialization rights for molecular diagnostics that are designed to help physicians to assess cardiovascular risk in men and women and infertility risk in women. In this new era of personalized medicine, it is now possible to more accurately determine if the healthy cholesterol fraction, HDL, and its partner protein, scavenger receptor class B type I (SR-BI), affect risk for heart disease in men and women as well as hormonal and fertility outcomes in women. Mutations within the SR-BI gene (SCARB1) are common and work by Annabelle Rodriguez-Oquendo, M.D. at John Hopkins University School of Medicine has suggested that variations within theSCARB1gene show associations with heart disease risk in men and women as well as hormonal and fertility problems in women.

Leroy Hood, M.D., Ph.D., co-founder of the Institute for Systems Biology and a member of Iverson Genetic Diagnostics Board of Directors, commented, The importance of finding gene variants that affect the metabolism of cholesterol, especially the healthy fraction, and hormones--hence causing disease--is incredibly important for personalized medicine. This agreement between Iverson and Johns Hopkins is a wonderful example of a diagnostic test that could significantly improve the health of many patients throughout the world.

DeanSproles, CEO of Iverson Genetic Diagnostics, Inc., stated, We are very pleased to collaborate with Johns Hopkins University School of Medicine on this product and look forward to including the new SR-BI test in the Iversons Physicians LogicTMportfolio later this year.

About Iverson Genetic Diagnostics, Inc.

Iverson Genetic Diagnostics, Inc. is a Nevada C corporation with administrative headquarters in Bothell, Washington, and production headquarters in Charleston, South Carolina. Iverson is establishing a recognizable global brand for providing trusted genetic tests and testing services for the emerging market of individualized medicine and genetics-based molecular diagnostics. The companys mission is to improve patient outcomes through personalized care. Iverson is a fully credentialed laboratory service company focused on providing results within 24 hours for hospitals and physicians. Iversons patented technology, Physicians LogicTM, is our healthcare information resource developed to deploy test results to providers and integrate with various electronic medical record systems in a HIPAA-compliant environment.

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Iverson Genetic Diagnostics, Inc. Announces an Exclusive Licensing Agreement with Johns Hopkins University School of ...

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Yesterday (Wednesday October 10) we were pleased to see the launch of Dukes second Coursera MOOC (Massive Open Online Course), Introduction to Genetics and Evolution. Led by Dr. Mohamed Noor, the course bills itself as a whirlwind introduction to evolution and genetics.

As we observed in Dukes first Coursera MOOC on Bioelectricity, the course discussion boards lit up almost immediately with students eager to begin. The site recorded over 1000 posts and 10,000 comments in the past 24 hours. As expected, virtual and in-person study groups began to form right away (both within the course site and outside of it).

Who are these students and where are they? Based on a pre-course questionnaire sent out by the instructor, over 120 countries are represented and 2/3 of the students reside outside of the United States. Professor Noor is delighted at the level of activity and enthusiasm from thestudents enrolled in the course from the first day, andhappy to see the breadth of students participating 8th graders toretirees, those in evolution graduate programs to those who haventfinished high school, the breadth of countries represented for example,there were enough people from the Philippines enrolled to organize aFilipino study group!

To give a blurred snapshot of a rapidly moving target, here are few quick numbers about the course since its launch yesterday:

Professor Noor commented today, Its going to be hard for me to restrainmyself from spending many hours a day watching the discussion forumposts that appear literally almost every minute!

Yvonne leads program evaluation for CIT and provides leadership to library assessment efforts as head of the library's Assessment Core Team. Her work includes serving on library- and university-wide planning committees and working groups, and she also directs evaluation activities for the Clinical Research Training Program in the School of Medicine at Duke. Her interests include organizational learning, utilization-focused evaluation, survey design and evaluation capacity-building.

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Important BYU research debunks the idea of "junk DNA"

The human body contains approximately 50 trillion cells whose length of DNA content compares to 528 million donuts wrapped around the earth 2,500 times.

Until recently, scientists thought 95 percent of that DNA was junk and had no function. BYU microbiology professor Steven Johnson and one of his undergraduate assistants, Elliot Winters, participated in a worldwide collaborative research project, the ENCODE Projectconcluded 80 percent of a persons DNA does perform an important function.

Its the culmination of this international consortium saying all this DNA that we thought didnt have a function actually has a function or has something going on, Johnson said. We dont know exactly what is going on, but its not just junk that is sitting there with no purpose.

The collaborative research project, the ENCODE Project, provides a database of information to those performing genetic research. The research was published in Genome Research, and Johnson and Winters are listed as co-authors.

[/media-credit] Mentored research provides exceptional opportunities for BYU students

We told them exactly how we wanted the cells prepared, and they sent them to us frozen, Johnson said. I taught my undergraduate student, Elliot Winters, this technique that Id developed. Over a course of about four months, we were able to get it to work just right and isolate just the DNA that we wanted to with the nucleosomes.

Winters is not alone in doing mentored undergraduate research atBYU. According to the BYU website,the university gave $1.4 million to 71 faculty members specifically for projects involving undergraduates. Winters identifies his research experience as one of the most important parts of his BYU education.

The reason I started doing it is because I wanted to strengthen my application for medical school, Winters said. Looking back on it, it was one of the most valuable parts of my education.

Winters is only one of many students Johnson employs in his labs. Colton Kempton, a third-year masters student from Safford, Ariz., is currently working with Johnson on more DNA research related to gene therapy.

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DNA research: Contribution to gene therapy - Important BYU research debunks the idea of "junk DNA"

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By Denise Mann WebMD Health News

Reviewed by Louise Chang, MD

Oct. 10, 2012 -- New research suggests that stem cell transplants to treat certain brain and nervous system diseases such as multiple sclerosis may be moving closer to reality.

One study found that experimental stem cell transplants are safe and possibly effective in children with a rare genetic brain disease. Another study in mice showed that these cells are capable of transforming into, and functioning as, the healthy cell type. The stem cells used in the two studies were developed by study sponsor StemCells, Inc.

Both papers appear online in Science Translational Research.

The work, while still in its infancy, may have far-reaching implications for the treatment of many more common diseases that affect the brain and nervous system.

Researchers out of the University of California, San Francisco (UCSF), looked at the how neural stem cells behaved when transplanted into the brains of four young children with an early-onset, fatal form of Pelizaeus-Merzbacher disease (PMD).

PMD is a very rare genetic disorder in which brain cells called oligodendrocytes can't make myelin. Myelin is a fatty substance that insulates the nerve fibers of the brain, spinal cord, and optic nerves (central nervous system), and is essential for transmission of nerve signals so that the nervous system can function properly.

In multiple sclerosis, the myelin surrounding the nerve is targeted and damaged by the body's immune system.

The new study found that the neural stem cell transplants were safe. What's more, brain scans showed that the implanted cells seem to be doing what is expected of them -- i.e. making myelin.

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Stem Cell Transplants May Show Promise for Multiple Sclerosis

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Friday, Oct. 12, 2012

NEW YORK A team of researchers has transplanted artificial cardiac muscle cells developed from multipurpose stem cells into six patients in the United States in the world's first clinical application of iPS cells, one of the researchers said Wednesday.

Shinya Yamanaka, who won this year's Nobel Prize in medicine or physiology for his development of iPS cells, declined comment on the transplants, while other experts said details about the medical performance should be carefully evaluated.

The researchers developed the muscle cells from induced pluripotent stem cells produced from the patients' livers and transplanted them to the patients, said Hisashi Moriguchi, a visiting professor at Harvard University.

A 34-year-old American male patient who was the first to receive the transplant in February now has normal heart functions and has been discharged from the hospital, Moriguchi said.

The patient suffered from liver cancer and received a liver transplant in February 2009. He developed ischemic cardiomyopathy this February, prompting the researchers to conduct the heart surgery.

The researchers took cells from the patient's original liver, which was kept after removal for the 2009 transplant, and developed iPS cells by adding protein and other medical agents from which they produced cardiac muscle cells. The muscle cells were placed in 30 locations in the patient's heart.

No rejection or cancer development was found in the heart, and his heart function gradually recovered to normal levels 10 days after the surgery, they said.

"We need to improve the efficacy and safety of such medical treatment . . . and think of ways to reduce economic burden on patients," Moriguchi said.

The researchers used an improved technique to produce iPS cells developed by Yamanaka, the professor from Kyoto University who jointly won this year's Nobel with John Gurdon of Britain. Such cells have the potential to grow into any type of body tissue.

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Public release date: 11-Oct-2012 [ | E-mail | Share ]

Contact: Teresa Herbert teresa_herbert@dfci.harvard.edu 617-632-4090 Dana-Farber Cancer Institute

Researchers at Dana-Farber Cancer Institute have developed a novel method for determining how ready acute myeloid leukemia (AML) cells are to die, a discovery that may help cancer specialists to choose treatments option more effectively for their patients who have AML. In a study published in the Oct. 12 issue of the journal Cell, the researchers report that their findings may lead to improved tests to predict which patients successfully treated for AML can continue in remission with standard chemotherapy alone, and which patients are likely to relapse despite additional treatment, but might benefit from a bone marrow transplant.

Anthony Letai, MD, PhD, senior author of the paper, said the study's results also help to explain the "therapeutic index" of AML chemo drugs: That is, how a patient's normal blood-forming stem cells can survive chemotherapy doses that kill the leukemia cells.

Unlike current predictive tools, the new method determines the degree to which an individual patient's AML cells are "primed to die" by apoptosis, or programmed cell death. Chemotherapy is more effective when the cancer cells are well along the path to self-destruction, while patients with less-primed leukemia cells are more likely to suffer fatal relapse without a bone marrow transplant, said the researchers.

"Our data suggest that applying our assay in addition to conventional indicators yields a much better predictive tool," said Letai. "We plan to confirm this in independent experiments, and then test its performance prospectively in clinical trials to see if we can use it to do a better job of assigning individualized therapy in AML."

According to the American Cancer Society, an estimated 13,780 cases of AML will be diagnosed in the United States this year, and more than 10,000 people are expected to die from AML, making it the most lethal form of leukemia in the U.S.

Currently, clinicians try to predict an AML patient's outcome by assessing the cancer cells' pathological features and whether the cells contain certain mutations that suggest a poorer response. But these indicators do not provide a biological explanation for patients' differing responses to treatment, noted Letai.

The method described in the new study takes a different approach, first described by Letai in 2011 paper. It employs a technique called "BH3 profiling" to measure the readiness of mitochondria tiny organelles within the cell to unleash chemical compounds that cause the cell to destroy itself. The self-destruction process, called apoptosis, is triggered by "death molecules," whose mission is to eliminate unneeded or dangerously damaged cells from the body. The study's authors called this readiness for apoptotic self-destruction "mitochondrial priming."

BH3 profiling involves exposing cancer cells to BH3 molecules, which mimic the protein death signals in the body. If the cancer cells' mitochondria membrane is rapidly and easily disrupted, then the cells are considered to be highly primed for death. If the mitochondria strongly resist the disruption, the leukemia cells are further from self-destruction and less likely to respond to chemotherapy.

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Friday, Oct. 12, 2012

Stem cells derived from a mouse's skin won Shinya Yamanaka the Nobel Prize in physiology or medicine on Monday. Now researchers in Japan are seeking to use his pioneering technology for an even greater prize: restoring sight.

Scientists at the Riken Center for Developmental Biology in Kobe plan to use induced pluripotent stem (iPS) cells in a human trial using patients with macular degeneration, a disease in which the retina becomes damaged and results in loss of vision, Yamanaka, a Kyoto University professor, told reporters the same day in San Francisco.

Companies including Pfizer Inc. are already planning trials of stem cells derived from human embryos, but Riken's will be the first to use a technology that mimics the power of embryonic cells while avoiding the ethical controversy that accompanies them.

"The work in that area looks very encouraging," John B. Gurdon, 79, a professor at the University of Cambridge who shared this year's Nobel Prize with Yamanaka, said in an interview in London.

Yamanaka and Gurdon split the 8 million Swedish kronor (about 94 million) award for experiments 50 years apart demonstrating that mature cells in latent form retain all of the DNA they had as immature stem cells, and that they can be returned to that potent state.

Their findings offer the potential for a new generation of therapies against hard-to-treat diseases like macular degeneration.

In a study published in 1962, Gurdon took a cell from a tadpole's gut, extracted the nucleus and inserted it into the egg cell of an adult frog whose own nucleus had been removed. The reprogrammed egg cell developed into a tadpole with the genetic characteristics of the original tadpole, and subsequent trials yielded adult frogs.

Yamanaka, 50, built on Gurdon's work by adding four genes to a skin cell from a mouse, returning it to its immature state as a stem cell with the potential to become any cell in the body.

He dubbed them induced pluripotent stem cells.

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Printing off a kidney or another human organ may sound like something out of a science fiction novel, but with the advancements in 3D printing technology, the idea may not be so far-fetched.

BioprintingWhile 3D printing has been successfully used in the health care sector to make prosthetic limbs, custom hearing aids and dental fixtures, the technology is now being used to create more complex structures - particularly human tissue.

Organovo (onvo), a San Diego-based company that focuses on regenerative medicine, is one company using 3D printers, called bioprinters, to print functional human tissue for medical research and regenerative therapies.

"This is disruptive technology," said Mike Renard, Organovo's vice president of commercial operations. "It's always interesting and fun, but never easy."

(More From CNBC: 15 Surprising Global Technology Cities)

Traditional 3D printing, also known as additive manufacturing, is a process of making three dimensional solid objects from a digital model. 3D printing is achieved using additive processes, in which an object is created by laying down successive layers of material such as plastic, ceramics, glass or metal to print an object. Companies including Boeing (ba), General Electric (ge) and Honeywell (hon) use this type of 3D printing to manufacture parts.

Bioprinters, though, use a "bio-ink" made of living cell mixtures to form human tissue. Basically, the bio-ink is used to build a 3D structure of cells, layer by layer, to form tissue.

Eventually, medical researchers hope to be able to use the printed tissue to make organs for organ replacement.

However, growing functional organs is still at least 10 years away, said Shaochen Chen, a professor of nano-engineering at the University of California, San Diego, who uses bioprinting in researching regenerative medicine.

But even though developing functional organs may still be a decade off, medical researchers and others are using bioprinting technology to make advancements in other ways.

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Joey Duffy of Springettsbury Township is looking for a match.

Two-year-old Joey Duffy yawns as his mother, Maura, vents his stomach via a feeding tube after he was fed at their Springettsbury Township home on Friday. Joey, who has previously had esophageal stricture, has been in and out of the hospital all summer and is in need of a bone marrow transplant. (DAILY RECORD/SUNDAY NEWS - CHRIS DUNN)

Two-year-old Joey Duffy played with his "Sesame Street" doll Ernie, watched the television show "Yo Gabba Gabba" and occasionally called out "mamma" while his parents talked about a bone marrow transplant he needs.

The toddler was diagnosed about five weeks ago with Myelodysplastic Syndromes, also known as MDS, a blood and bone marrow disorder. It's the same ailment that Robin Roberts of "Good Morning America" is receiving treatment for currently.

The disease can progress to leukemia, parents Tom and Maura Duffy said at their Springettsbury Township home. They are lucky that doctors at Johns Hopkins in Baltimore caught the condition when they did for their youngest son.

"We're ahead of the game," Maura Duffy said. "We caught this very early."

The only cure is a bone marrow transplant, and the parents as well as their two older sons, 5-year-old Tommy and 4-year-old Mick, have already submitted a cheek swab to see if they will be a match for Joey. His brothers are the best chance, Maura Duffy said.

Meanwhile, the family is organizing an Oct. 21 donor drive at their church, Saint Andrews Episcopal Church in Spring Garden Township. The idea came about as family and friends asked how they could get tested to see if they are a match, Tom Duffy said.

The process only takes about 15 minutes, said Sarah Brooks Horan, an account executive for the National Marrow Donor Program, also known as "Be The Match." A cotton swab is used to swab the cheek.

These days, donating stem cells can be as simple as giving blood, Horan said.

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Springettsbury toddler needs a bone marrow transplant

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ST. LOUIS Local cancer patients who need bone marrow transplants could soon have the option of sleeping in their own beds instead of staying in the hospital for weeks or months.

The region's first outpatient bone marrow transplant center is set to open later this month at St. Louis University Hospital.

Bone marrow transplants are most commonly used for certain patients with cancers of the blood including leukemia and lymphoma. Stem cells from bone marrow harvested from the patient or a donor are transplanted into the patient's bloodstream to replace diseased cells. Patients require chemotherapy before the transplant to kill the cancer cells, and antibiotics, blood transfusions and daily monitoring afterward.

Historically, patients were hospitalized up to two months or longer because side effects from the transplant can be life-threatening. In an effort to reduce costs of the transplant, which can reach several hundred thousand dollars, several U.S. cancer centers in the last 20 years pursued an outpatient option.

Since then, research published in the journal Nature has shown that infection rates and outcomes do not vary significantly if they are treated as inpatients or outpatients.

"We have patients who really don't need to be (in the hospital), they're as bored as can be," said Fran Poglajen, administrative director of nursing for hematology/oncology at SLU.

Stronger patients at low risk of transplant rejection will now have the option of going home each night, as long as they have a caregiver available 24 hours a day. If they develop a fever or other complications, they need to be admitted to the hospital.

The outpatient treatments can last two to 10 hours and are given each day for about a month.

The $3 million center at SLU Hospital includes 16 rooms in about 10,000 square feet. It was built on the site of the operating rooms of the former Bethesda Hospital. About 10 new jobs were created with the opening, and within a few years about 100 patients a year are expected to receive transplants there.

"Bone marrow transplant really has revolutionized treatment of malignant blood diseases," said Dr. Friedrich Schuening, SLU's director of hematology and oncology. Schuening ran the inpatient/outpatient bone marrow transplant center at Vanderbilt University before coming to St. Louis last year.

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SLU to open outpatient bone marrow transplant center

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10/11/2012 10:05 JAPAN Nobel Prize for Yamanaka, scientific research and ethics must go hand in hand by Pino Cazzaniga Research on iPS (induced pluripotent stem cells) can produce stem cells from adult cells, for use in regenerative medicine. Shinya Yamanakas discovery reveals that research on embryonic stem cells is unnecessary, saving the lives of many embryos. The Japanese researcher has searched for new ways driven by ethical question.

Tokyo (AsiaNews) - Shinya Yamanaka, fresh from the Nobel Prize for medicine, states that science and ethics must go hand in hand. Interviewed by the Mainichi Shimbun after the award, he said: "I would like to invite ethical experts as teachers at my laboratory and work to guide iPS [induced pluripotent stem] cell research from that direction as well. The work of a scientific researcher is just one part of the equation. "

Yamanaka, 50, found that adult cells can be transformed into cells in their infancy, stem cells (iPS), which are, so to speak, the raw material for the reconstruction of tissue irreparably damaged by disease. For regenerative medicine the implications of Yamanaka's discovery are obvious. Adult skin cells can for example be reprogrammed and transformed into any other cell that is desired: from the skin to the brain, from the skin to the heart, from the skin to elements that produce insulin.

"Their discovery - says the statement of the jury that awarded him the Nobel Prize on October 8 - has revolutionized our understanding of how cells and organisms develop. Through the programming of human cells, scientists have created new opportunities for the study of diseases and development of methods for the diagnosis and therapy ".

These "opportunities" are not only "scientific", but also "ethical". Much of the scientific research and global investment is in fact launched to design and produce stem cells from embryos, arriving at the point of manipulating and destroying them, facing scientists with enormous ethical problems.

" Ethics are really difficult - Yamanaka explainsto Mainichi - In the United States I began work on mouse experiments, and when I returned to Japan I learned that human embryonic stem cells had been created. I was happy that they would contribute to medical science, but I faced an ethical issue. I started iPS cell research as a way to do good things as a researcher, and I wanted to do what I could to expand the merits of embryonic stem cells. If we make sperm or eggs from iPS cells, however, it leads to the creation of new life, so the work I did on iPS cells led to an ethical problem. If we don't prepare debates for ethical problems in advance, technology will proceed ahead faster than we think.. "

The "ethical question" Yamanaka pushed to find a way to "not keep destroying embryos for our research."

Speaking with his co-workers at the University of Kyoto, immediately after receiving the award, Yamanaka showed dedication and modesty.

"Now - he said - I strongly feel a sense of gratitude and responsibility" gratitude for family and friends who have supported him in a demanding journey of discovery that lasted decades; responsibility for a discovery that gives hope to millions of patients. Now iPS cells can grow into any tissue of the human body allowing regeneration of parts so far irretrievably lost due to illness.

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10/11/2012 10:05 JAPAN Nobel Prize for Yamanaka, scientific research and ethics must go hand in hand

Recommendation and review posted by Bethany Smith

WASHINGTON, Oct. 10, 2012 /PRNewswire-USNewswire/ --Alliance Defending Freedom and the Jubilee Campaign together with Tom Hungar of Gibson, Dunn & Crutcher today filed a petition for certiorari with the U.S. Supreme Court in the case Sherley v. Sebelius, which seeks to end federal funding of human embryonic stem cell research.

Of the petition David Prentice, Ph.D., senior fellow for life sciences at the Family Research Council's Center for Human Life and Bioethics, made the following comments:

"Even as the Nobel Prize committee honors Japanese scientist Shinya Yamanaka for introducing ethical induced pluripotent stem (iPS) cells to the field of medicine, the Obama administration is fighting to continue wasting taxpayer money on unethical embryonic stem cell research, which relies on the destruction of young human life. A plain reading of federal law would specifically prohibit funding of embryonic stem cell research. After years of wasting taxpayer dollars as well as lives on ethically-tainted experiments, it's time for the federal government to start putting that money into lifesaving and ethical adult stem cell research, the gold standard for patient treatments. Such research is saving thousands of lives now lives like that of Chloe Levine who beat cerebral palsy with the help of adult stem cells. Each precious life at every stage and every age deserves our respect, and we should devote our resources and time to the ethical stem cell research that has the best chance of preserving life adult stem cells.

"We are pleased to see this suit move forward, and hope that the Supreme Court will agree to its review and uphold the clear intent of federal law to protect human life from experimentation."

To watch a video about Chloe Levine and adult stem cell therapy, click here : http://www.youtube.com/watch?feature=player_embedded&v=ojjT4yRd5Es

To learn more about adult stem cells, click here : http://www.stemcellresearchfacts.org/

SOURCE Family Research Council

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FRC Supports Alliance Defending Freedom, Jubilee Campaign Cert Petition to Supreme Court on Stem Cell Funding

Recommendation and review posted by Bethany Smith

NEW YORK, NY--(Marketwire - Oct 11, 2012) - Immunovative, Inc. ("IMUN" or the "Company") ( OTCBB : IMUN ) has today announced that Immunovative Therapies, Ltd. ("ITL") has been granted a U.S. Patent entitled "METHOD FOR ALLOGENEIC CELL THERAPY," which was issued September 25, 2012, under Patent No. 8,273,377. Foreign versions of this patent are pending around the world. This patent covers the proprietary method that utilizes immune cells from a normal donor to elicit an anti-tumor mechanism that mimics the Graft vs. Tumor (GVT) effect of non-myeloablative allogeneic stem cell transplants ("Mini-Transplant") without the toxicity of Graft vs. Host Disease (GVHD). Harnessing the power of the immune system to treat cancer and infectious disease has long been the goal of physicians and scientists. Unfortunately, cancer vaccines and cell immunotherapy methods have had difficulties in translating the promise of immune control into effect treatments. The most effective anti-cancer mechanism ever discovered is the GVT immune response that occurs after Mini-Transplant procedures. This mechanism can completely destroy chemotherapy-resistant metastatic cancers. Unfortunately, the clinical use of the GVT effect is severely limited due to extreme toxicity of an intimately related GVHD effect. Mini-Transplants are thus only widely used in advanced cases of leukemia, even though the GVT effect has been shown capable of killing many types of solid tumors. The separation of the beneficial GVT effect from the devastating GVHD toxicity has long been the goal of stem cell transplant scientists and is the subject of extensive research around the world.

ITL is believed to be the first to develop an immunotherapy drug product (AlloStim) which enables the harnessing of the power of the GVT mechanism without GVHD side effects. ITL calls the mechanism which enables immune-mediated tumor destruction without GVHD toxicity the "Mirror Effect." The "Mirror Effect" mechanism represents a major breakthrough for treatment of cancer and infectious disease. Early human clinical trials have produced evidence of this technology's capability to stimulate the immune systems of heavily pre-treated metastatic cancer patients to kill widely disseminated metastatic cancers. A potentially pivotal, double-blind, placebo-controlled Phase II/III clinical trial in metastatic breast cancer is being prepared to document these effects in a controlled setting and determine if the immune-mediated tumor debulking provides patients with a survival advantage. This issued US Patent covers the use of intentionally mismatched, activated immune cells for treatment of cancer and infectious diseases. The patent discloses the concepts and methods related to ITL's proprietary "Mirror Effect" technology and describes its lead immunotherapy drug candidate "AlloStim." This patent also describes how AlloStim eliminates the need for a matched tissue donor and chemotherapy pre-conditioning for patients that require a bone marrow or stem cell transplant.

The newly issued patent is part of an intellectual property portfolio from ITL that includes 11 issued patents and numerous patent applications, to which IMUN has exclusive rights in the US and the rest of the world. The licensed patents cover compositions, methods of production, formulation, distribution and uses for treatment of all types of cancer and infectious diseases.

Seth M. Shaw, CEO of IMUN, stated: "The separation of the beneficial GVT effect from the devastating GVHD toxicity has been called the 'Holy Grail' of transplant research. ITL is the first to accomplish this significant scientific milestone. We are confident that ITL's extensive Intellectual Property ("IP") portfolio will provide our products with long-term market exclusivity. This patent is an important component of our growing IP estate, as the allowed claim language is very broad. We are now the exclusive allogeneic cell therapy company in the world. Our strong patent portfolio will now allow us to pursue opportunities for partnering and sub-licensing by indication and territory around the world."

Dr. Michael Har-Noy, CEO, founder of ITL and inventor of the "Mirror Effect" technology stated: "Our patent portfolio is a valuable asset as it not only protects our AlloStim and AlloVax product candidates, but also provides protection of the unique mechanism of action that enables these products to have such powerful potential to debulk treatment-resistant metastatic disease. We are continuing to invest in research activities to improve our current product candidates and develop new products and further expand our patent portfolio. With protection of the novel mechanism of action, ITL and IMUN have the basis for development of a new industry based on powerful, non-toxic immunotherapy products that can work where all current treatment options have failed."

About Immunovative, Inc.: On December 12th, 2011, Immunovative, Inc. ("IMUN") signed an exclusive License Agreement (the "License Agreement") with Immunovative Therapies, Ltd. ("ITL"). Under the terms of the License Agreement, IMUN has been granted an exclusive, worldwide license to commercialize any products covered under ITL's current issued and pending patent application portfolio, as well as the rights to any future patent applications, including improvements or modifications to the existing applications and any corresponding improvements or new versions of the existing products. Please visit IMUN's website at http://www.imun.com.

About Immunovative Therapies, Ltd.:

Immunovative Therapies, Ltd. is an Israeli biopharmaceutical company that was founded in May 2004 with financial support from the Israeli Office of the Chief Scientist. ITL is a graduate of the Misgav Venture Accelerator, a member of the world-renowned Israeli technological incubator program. The company was the Misgav Venture Accelerator's candidate for the prize for the outstanding incubator project of 2006, awarded by the Office of the Chief Scientist. ITL specializes in the development of novel immunotherapy drug products that incorporate living immune cells as the active ingredients for treatment of cancer and infectious disease. Please visit ITL's website at: http://www.immunovative.co.il

DISCLAIMER: Forward-Looking Statements: Except for statements of historical fact, this news release contains certain "forward-looking statements" as defined by the Private Securities Litigation Reform Act of 1995, including, without limitation, expectations, beliefs, plans and objectives regarding the development, use and marketability of products. Such forward-looking statements are based on present circumstances and on IMUN's predictions with respect to events that have not occurred, that may not occur, or that may occur with different consequences and timing than those now assumed or anticipated. Such forward-looking statements involve known and unknown risks, uncertainties and other factors, and are not guarantees of future performance or results and involve risks and uncertainties that could cause actual events or results to differ materially from the events or results expressed or implied by such forward-looking statements. Such factors include general economic and business conditions, the ability to successfully develop and market products, consumer and business consumption habits, the ability to fund operations and other factors over which IMUN has little or no control. Such forward-looking statements are made only as of the date of this release, and IMUN assumes no obligation to update forward-looking statements to reflect subsequent events or circumstances. Readers should not place undue reliance on these forward-looking statements. Risks, uncertainties and other factors are discussed in documents filed from time to time by IMUN with the Securities and Exchange Commission.

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Immunovative, Inc. Announces Issuance of U.S. Patent on Key Scientific Breakthrough

Recommendation and review posted by Bethany Smith

SAN DIEGO & MINNEAPOLIS--(BUSINESS WIRE)--Cytori Therapeutics (NASDAQ: CYTX) announced the initiation of the FDA approved ATHENA clinical trial to investigate Cytoris cell therapy in patients who suffer from a severe form of refractory (untreatable) heart failure due to chronic myocardial ischemia. Cytoris cell therapy is based on a patients own adipose-derived stem and regenerative cells (ADRCs) processed by the Companys proprietary Celution System technology, making this the first FDA approved trial in the U.S. to evaluate ADRCs for cardiovascular disease. This first patient was treated by co-principal investigator Timothy Henry, M.D., Director of Research, at the Minneapolis Heart Institute Foundation in September and has undergone a seven day follow-up assessment. More details on the ATHENA trial may be found at http://www.theathenatrial.com.

Patients with refractory heart failure have no options except for heart transplant, for which there are few hearts available

Patients with refractory heart failure have no options except for heart transplant, for which there are few hearts available, said Dr. Henry. Cell therapy such as Cytoris has the potential to delay, halt, or even reverse this progression. We believe this is accomplished by the cells ability to promote angiogenesis and regulate the immune response to help revive damaged tissue that is alive yet not necessarily contributing to its fullest capacity toward the pumping ability of the heart.

ATHENA is a device-based, multi-center, prospective, randomized, double-blind PMA/IDE safety and feasibility (Phase I/II) trial that will enroll 45 patients in six centers in the U.S. Patients will be randomized to receive either Cytoris cell therapy (n=30) or an inactive placebo injection (n=15). All trial participants will undergo a minor liposuction procedure to remove adipose tissue. The adipose tissue will then be processed at the point-of-care with Cytoris proprietary system to separate and concentrate clinical-grade ADRCs. The treatment group will have a prescribed dose of the patients own ADRCs (0.4 million cells/kg body weight), which will then be injected into their damaged heart tissue using a minimally invasive catheter system.

Cytoris cell therapy has unique advantages compared to alternate cell sources such as bone marrow and peripheral blood, said Emerson Perin, M.D., Ph.D. of The Texas Heart Institute and co-principal investigator for ATHENA. Specifically, its a proprietary formulation that Cytori has optimized for vascular delivery and which contains an uncultured and mixed population of cells. As a result, this increases the number of cell types that potentially contribute to repair relative to a more homogenous population of cultured cells.

The trial will measure several endpoints, including peak oxygen consumption (VO2 Max). VO2 Max is an objective functional measurement that can be predictive of outcomes in heart disease, including mortality, and is commonly used as a primary determinant for qualifying patients for heart transplantation. Additional endpoints include perfusion defect, left ventricle end-systolic and diastolic volume and ejection fraction at six and 12 months. ATHENA will also evaluate medical economic factors such as rate of re-hospitalization and heart failure symptoms such as angina and quality of life at 12 months.

We believe Cytoris cell therapy will improve patient outcomes, said Marc H. Hedrick, M.D., president, Cytori Therapeutics. In ATHENA, investigators will be delivering a virtually off-the-shelf cell therapy comprised of a patients own cells, which is made possible by our technology. Using a patients own cells minimizes the risk of rejection or disease transmission compared to alternative therapies derived from donor cells and the virtually off-the-shelf nature allows the treatment to be accomplished in a single surgical procedure.

Cytori received approval from the FDA for its Investigational Device Exemption (IDE) application to begin ATHENA in January 2012 and the trial is currently expected to complete enrollment in mid-2013. In addition to Minneapolis Heart Institute Foundation, the Texas Heart Institute (Houston, TX) is actively screening patients under the direction of Emerson Perin, M.D., Ph.D., co-principal investigator for ATHENA, and James T. Willerson, M.D. Four additional centers are also expected to participate in the trial including:

Previously, Cytori reported six and 18-month safety and feasibility data from the PRECISE trial, a European clinical trial for this same indication. The PRECISE trial demonstrated a statistically significant improvement in VO2 Max in patients treated with Cytoris cell therapy compared to those treated with placebo. The Company is also conducting the ADVANCE trial, a European pivotal trial investigating the effect of Cytoris cell therapy in heart attack patients.

Refractory Heart Failure

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First Patient Treated in Cytori’s U.S. Cell Therapy Heart Failure Trial

Recommendation and review posted by Bethany Smith

LA JOLLA, Calif., Oct. 10, 2012 /PRNewswire/ --New research directions are being explored to find therapies for hard to treat diseases. One exciting new approach is the use of autologous Adult Stem Cells. Multiple Sclerosis (MS) is one of the many notable diseasesadult stem cell therapycould potentially impact. Multiple Sclerosis (MS) is a disorder in which an individual's own immune system attacks the 'myelin sheath'. The myelin sheath serves to protect the nerve cells within the body's central nervous system (CNS). The damage caused by MS may result in many types of symptoms including:

(Photo: http://photos.prnewswire.com/prnh/20121010/LA89802-INFO)

Currently there is no cure for MS, but MS stem cell therapiesattempt to slow the disease's progression and limit symptoms. Since adult stem cells have the ability to differentiate into many different types of cells, such as those required for proper functioning and protection of nerve cells, the use of adult stem cells for MS therapy could be of substantial value. Adult stem cells can be isolated with relative ease from an individual's own 'adipose' (fat) tissue. As a result, adult stem cell therapy is not subject to the ethical or religious issues troubling embryonic methods.

Encouragingly for MS treatment potential, scientific researchers have been studying the properties of adipose-derived stem cells. Their results from canine and equine studies suggest anti-inflammatory and regenerative roles for these stem cells. Also, further research findings suggest these adipose-derived stem cells can have specific immune-regulating properties. Markedly, clinical-based work conducted overseas has indicated that individuals suffering from MS could respond well to adipose-derived stem cell treatment, with a substantially improved quality of life.

The US based company, StemGenex, is pioneering new methods for using adipose derived adult stem cells to help in diseases with limited treatment options like MS. StemGenex has been conducting research with physicians over the last 5 years to advance adult stem cell treatment protocols for alleviating MS symptoms. StemGenex's proprietary protocol includes the use of a double activation process, which increases both the viability and the quantity of stem cells that are received in a single application.

To find out more about stem cell treatments contact StemGenex either by phone at 800.609.7795 or email at Contact@StemGenex.com.

Original post:
StemGenex™ on Adult Stem Cell-Based Therapy for Multiple Sclerosis

Recommendation and review posted by Bethany Smith

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

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

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

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

``For the first time, we can actually deliver genome information in time to make a difference," predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine. Even if the diagnosis is a lethal disease, ``the family will at least have an answer. They won't have false hope," he added.

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

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

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

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

Specialists not involved with the study said it signals the long-promised usefulness of gene-mapping to real-world medicine finally is close. ``Genomic sequencing like this is very practical and very real now," said Dr. Arthur Beaudet of the Baylor College of Medicine, which also is working to expand genomic testing in children. ``Fast forward a year, and I think this kind of thing will probably be pretty routine."

The rest is here:
Test Spots Newborn Gene Disease

Recommendation and review posted by Bethany Smith

Public release date: 10-Oct-2012 [ | E-mail | Share ]

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

Researchers from Mount Sinai School of Medicine have identified a six-gene signature that can be used in a test to predict survival in men with aggressive prostate cancer, according to new research published in the October issue of The Lancet Oncology. This is the first study to demonstrate how prognostic markers may be useful in a clinical setting.

Using blood from 202 men with treatment-resistant prostate cancer, researchers found six genes characteristic of treatment-resistant prostate cancer. Men with the six-gene signature were high-risk, with a survival time of 7.8 months, and men without it were low-risk, with a survival time of approximately 34.9 months. A replication study of 140 additional patients validated these findings. William K. Oh, MD, Chief of the Division of Hematology and Medical Oncology of The Tisch Cancer Institute at The Mount Sinai Medical Center, led the research team.

"There is an urgent need for predictive models that help assess how aggressive the disease is in prostate cancer patients, as survival can vary greatly," said Dr. Oh. "Our six-gene model, delivered in a simple blood test, will allow clinicians to better determine the course of action for their patients, determine clinical trial eligibility, and lead to more targeted studies in late-stage disease."

Until now, disease prognosis in advanced prostate cancer could only be determined through clinical predictors or, occasionally, tumor biopsies with only moderately predictive results. This study shows the efficacy of the six-gene model blood test in determining length of survival.

"The genes noted in the model suggest possible changes in the immune system related to late-stage disease that warrant further study as a target for immune-based therapies," said Dr. Oh.

Dr. Oh's team is conducting additional studies exploring the feasibility of the six-gene signature in other types of prostate cancer, the stability of the signature during the course of a patient's illness, and the predictive ability of this signature in patients with prostate cancer treated with immune-based therapies.

###

This work was done in collaboration with colleagues at Dana-Farber Cancer Institute in Boston and Memorial Sloan-Kettering Cancer Center in New York City.

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Mount Sinai researchers discover gene signature that predicts prostate cancer survival

Recommendation and review posted by Bethany Smith

Newswise Researchers from Mount Sinai School of Medicine have identified a six-gene signature that can be used in a test to predict survival in men with aggressive prostate cancer, according to new research published in the October issue of The Lancet Oncology. This is the first study to demonstrate how prognostic markers may be useful in a clinical setting.

Using blood from 202 men with treatment-resistant prostate cancer, researchers found six genes characteristic of treatment-resistant prostate cancer. Men with the six-gene signature were high-risk, with a survival time of 7.8 months, and men without it were low-risk, with a survival time of approximately 34.9 months. A replication study of 140 additional patients validated these findings. William K. Oh, MD, Chief of the Division of Hematology and Medical Oncology of The Tisch Cancer Institute at The Mount Sinai Medical Center, led the research team.

"There is an urgent need for predictive models that help assess how aggressive the disease is in prostate cancer patients, as survival can vary greatly," said Dr. Oh. "Our six-gene model, delivered in a simple blood test, will allow clinicians to better determine the course of action for their patients, determine clinical trial eligibility, and lead to more targeted studies in late-stage disease."

Until now, disease prognosis in advanced prostate cancer could only be determined through clinical predictors or, occasionally, tumor biopsies with only moderately predictive results. This study shows the efficacy of the six-gene model blood test in determining length of survival.

The genes noted in the model suggest possible changes in the immune system related to late-stage disease that warrant further study as a target for immune-based therapies, said Dr. Oh.

Dr. Ohs team is conducting additional studies exploring the feasibility of the six-gene signature in other types of prostate cancer, the stability of the signature during the course of a patients illness, and the predictive ability of this signature in patients with prostate cancer treated with immune-based therapies.

This work was done in collaboration with colleagues at Dana-Farber Cancer Institute in Boston and Memorial Sloan-Kettering Cancer Center in New York City.

About The Mount Sinai Medical Center The Mount Sinai Medical Center encompasses both The Mount Sinai Hospital and Mount Sinai School of Medicine. Established in 1968, Mount Sinai School of Medicine is one of the leading medical schools in the United States. The Medical School is noted for innovation in education, biomedical research, clinical care delivery, and local and global community service. It has more than 3,400 faculty in 32 departments and 14 research institutes, and ranks among the top 20 medical schools both in National Institutes of Health (NIH) funding and by US News and World Report.

The Mount Sinai Hospital, founded in 1852, is a 1,171-bed tertiary- and quaternary-care teaching facility and one of the nations oldest, largest and most-respected voluntary hospitals. In 2011, US News and World Report ranked The Mount Sinai Hospital 14th on its elite Honor Roll of the nations top hospitals based on reputation, safety, and other patient-care factors. Mount Sinai is one of 12 integrated academic medical centers whose medical school ranks among the top 20 in NIH funding and US News and World Report and whose hospital is on the US News and World Report Honor Roll. Nearly 60,000 people were treated at Mount Sinai as inpatients last year, and approximately 560,000 outpatient visits took place. For more information, visit http://www.mountsinai.org/.

Find Mount Sinai on: Facebook: http://www.facebook.com/mountsinainyc Twitter: @mountsinainyc YouTube: http://www.youtube.com/mountsinainy

Here is the original post:
Researchers Discover Gene Signature that Predicts Prostate Cancer Survival

Recommendation and review posted by Bethany Smith

WASHINGTON (AP) It sounds like a scene from a TV show: Someone sends a discarded coffee cup to a laboratory where the unwitting drinker's DNA is decoded, predicting what diseases lurk in his or her future.

A presidential commission found that's legally possible in about half the states and says new protections to ensure the privacy of people's genetic information are critical if the nation is to realize the enormous medical potential of gene-mapping.

Such whole genome sequencing costs too much now for that extreme coffee-cup scenario to be likely. But the report being released Thursday says the price is dropping so rapidly that the technology could become common in doctors' offices very soon and there are lots of ethical issues surrounding how, when and with whom the results may be shared.

Without public trust, people may not be as willing to allow scientists to study their genetic information, key to learning to better fight disease, the report warns.

"If this issue is left unaddressed, we could all feel the effects," said Dr. Amy Gutmann, who chairs the Presidential Commission for the Study of Bioethical Issues.

Mapping entire genomes now is done primarily for research, as scientists piece together which genetic mutations play a role in various diseases. It's different than getting a lab test to see if you carry, say, a single gene known to cause breast cancer.

Gutmann said her commission investigated ahead of an anticipated boom in genome sequencing as the price drops from thousands today to about $1,000, cheaper than running a few individual gene tests.

The sheer amount of information in a whole genome increases the privacy concerns. For example, people may have their genomes sequenced to study one disease that runs in the family, only to learn they're also at risk for something else with implications for relatives who may not have wanted to know.

Thursday's report shows a patchwork of protection. A 2008 federal law prohibits employers or health insurers from discriminating on the basis of genetic information, so that people don't put off a potentially important gene test for fear of losing their job or health coverage. But that law doesn't prevent denial of life insurance or long-term care insurance. Plus, there's little oversight of how securely genetic information is stored electronically, the report found.

Then there's the question of surreptitiously ordering genome screening from a private lab, such as during a nasty custody battle. The report didn't say that's ever happened, just that it could, and found no overarching federal or industry guidelines on how commercial testing companies should operate.

See the rest here:
Bioethics panel urges more gene privacy protection

Recommendation and review posted by Bethany Smith

WASHINGTON It sounds like a scene from a TV show: Someone sends a discarded coffee cup to a laboratory, where the unwitting drinker's DNA is decoded, predicting what diseases lurk in his or her future.

A presidential commission found that's legally possible in about half the states and says new protections to ensure the privacy of people's genetic information are critical if the nation is to realize the enormous medical potential of gene-mapping.

Such whole genome sequencing costs too much now for that extreme coffee-cup scenario to be likely. But the report being released Thursday says the price is dropping so rapidly that the technology could become common in doctors' offices very soon and there are lots of ethical issues surrounding how, when and with whom the results may be shared.

Without public trust, people may not be as willing to allow scientists to study their genetic information, key to learning to better fight disease, the report warns.

"If this issue is left unaddressed, we could all feel the effects," said Dr. Amy Gutmann, who chairs the Presidential Commission for the Study of Bioethical Issues.

Mapping entire genomes now is done primarily for research, as scientists piece together which genetic mutations play a role in various diseases. It's different than getting a lab test to see if you carry, say, a single gene known to cause breast cancer.

Gutmann said her commission investigated ahead of an anticipated boom in genome sequencing as the price drops from thousands today to about $1,000, cheaper than running a few individual gene tests.

The sheer amount of information in a whole genome increases the privacy concerns. For example, people may have their genomes sequenced to study one disease that runs in the family, only to learn they're also at risk for something else with implications for relatives who may not have wanted to know.

Thursday's report shows a patchwork of protection. A 2008 federal law prohibits employers or health insurers from discriminating on the basis of genetic information, so people don't put off a potentially important gene test for fear of losing their job or health coverage.

But that law doesn't prevent denial of life insurance or long-term care insurance. Plus, there's little oversight of how securely genetic information is stored electronically, the report found.

Read the original post:
Bioethics panel urges better protection of gene testing results privacy

Recommendation and review posted by Bethany Smith