Archive for the ‘Gene Therapy Research’ Category

Researchers at the University of Arizona have identified a previously unknown mutation in a sodium channel protein in the central nervous system as the likely cause of a severe form of epilepsy.

Such deciphering of the genetic information from a single individual in a matter of weeks to find a certain disease-causing genetic mutation would have been unthinkable just a decade ago.

But today, a team of researchers led by Michael Hammer applied Next Generation Genome Sequencing to decipher the entire DNA from a patient who had died a sudden, unexplained epileptic death.

In addition to finding the likely cause of the patient’s death, the findings offer some emotional comfort and explanation to the patient’s family in the absence of a firm medical diagnosis and any family history of similar disease.

“If you have a small child with severe epilepsy, not knowing what is causing it is a big burden to carry for the family,” said Mr. Hammer, an associate professor in UA’s department of ecology and evolutionary biology and a research scientist at the UA’s Arizona Research Labs.

“It leaves a lot of open questions and sometimes even feelings of guilt.”

Due to the severity of the patient’s condition, the absence of the disease in both parents and her younger sibling and no family history of epilepsy, Hammer and first author Krishna Veeramah ruled out an inherited genetic defect as the cause.

Rather, they suspected a so-called de novo mutation, a “typo” in the genetic alphabet generated by pure happenstance, most likely in the paternal germ line.

“We were tasked with the search for the proverbial needle in a haystack,” said Veeramah, a postdoctoral fellow in Hammer’s lab.

“To find a de novo mutation, we have to comb through the entire genome. In the old days, we could have generated a list of candidate genes and sequenced them one gene at a time. Unfortunately that’s a lot of work, especially in the brain where you have thousands of genes that could potentially be involved in a process leading to a neurological disorder.”

“The development of Next Generation Sequencing Technology in recent years provides a much more powerful approach to actually analyze all the genes at the same time. So that’s what we wanted to do.”

“We are looking at the level of the entire genome,” Hammer said, “something that was not possible until very recently.”

“For a neurological disorder like this, the cause could be a mutation in a particular gene; it could be a certain sequence that was rearranged; or it could be a sequence that was deleted or duplicated changing the number of gene copies.”

“We all have variations in the number of copies of certain genes, but they’re not necessarily bad,” he said.

“But sometimes that variation can cause disease.”

“For example, some percentage of previously unexplained intellectual disability has been found to be associated with genomic rearrangements.”

In this case, the researchers did not find a smoking gun from looking at copy number variations, leaving point mutations or small insertions or deletions of DNA letters as a likely cause.

Using the sequencing technology capabilities of Complete Genomics Inc., between 96 and 97 percent of the patient’s DNA sequence, as well as the genomes of her parents and her sibling, was deciphered within just a few weeks.

Veeramah noted that each one of the roughly 3 billion base pairs that make up the human DNA alphabet was covered by at least 50 reads.

“This is important because whole genome sequencing still makes a lot of errors so you have to double up on your efforts to get the accuracy you need.”

The family’s DNA sequences turned out to stray from the human reference genome in about 5 million places. This may sound like a lot, but in light of the fact that only about 2 percent of the human DNA sequence contains actual genes, most of those variations fall into non-coding regions of the genetic material.

Next, Hammer’s team had to determine what those variations meant. Using databases of known genes, they checked which were located in actual gene sequences and which would change the amino acid sequence of the respective protein they encoded.  They were ultimately left with about 13,000 mutations.

They hoped that somewhere in that pool of candidates was that one mutation that had caused the girl’s epilepsy, and possibly led to her death.

To pare down the number of possibilities, the researchers screened for mutations that appeared to violate the laws of Mendelian inheritance.

“De novo mutations will look like they don’t obey the rules by which we know genetic material is inherited,” Veeramah explained.

“The patient will have a variant that is not found in the parents or the sibling. We found 34 sites that fit this pattern.”

On average, in one individual, only one spontaneous mutation springs up within the coding region of a gene. Therefore, finding 34 told the team that most of those mutations most likely were sequencing errors.

“Ten of them had already been listed in public databases, meaning they occur in normal individuals and should not be disease-causing. They’re probably just systematic artifacts of the sequencing process, so we could eliminate them,” said Veeramah.

The researchers sequenced the remaining 24 variations by standard methods, and as expected, only one turned out to be a real mutation. The variant, which was not previously associated with any human epilepsy disorders, consisted of a wrong letter in a gene that serves as the blueprint for a protein with an important role in how nerve cells communicate with each other.

“These channels perform extremely critical functions,” Veeramah said, “which is illustrated by the fact that their structure is very similar from fruit flies to fish to lizards to humans. Just by looking at how highly conserved those proteins have remained over millions and millions of years of evolution, it is pretty clear that the mutation we found is a particularly damaging one that shouldn’t really occur.”

Identifying a mutation in a critical component of the nervous system in a patient afflicted with severe and otherwise unexplained epilepsy would have been reason enough to halt the study and declare the case closed.

“We decided to take it a step further and actually see if we could find out the exact consequences of that mutation,” Veeramah said.

To that end, the team performed electrophysiological studies on this particular mutation.

The researchers partnered with geneticist Miriam Meisler at the University of Michigan to insert the faulty gene into cultured neural cells, and then studied what happened when they subjected the cells to a mild electric current, just as they would experience when stimulated by another nerve cell in the central nervous system.

“When the voltage is increased, there is a sudden opening of sodium channels,” Veeramah said.

“Shortly afterward, they close really quickly and the voltage goes back to normal. And that’s essentially how normal neurons communicate, how electrical signals are sent around the brain and the body.”

“In contrast, the mutant channel proteins opened as quickly as they should, but some of them failed to close quickly, and some didn’t close at all.”

“All this results in the electrical signal not being turned off properly. These changes predicted increased neuronal excitability and seizures.”

Mr. Hammer said the process used in the study could also apply to other patients with severe forms of epilepsy and other rare conditions.

“The bottom line is that we can use whole genome sequencing to find mutations that underlie those severe cases of epilepsy and take it beyond the benchmark in the literature right now by doing functional studies to confirm that we have found the right mutation,” he said.

The Hammer lab plans to establish a diagnostics facility to make whole genome sequencing available to the clinical community, in hopes of helping children with early onset epilepsy and other rare undiagnosed disorders.

“We want to repeat this experiment with many more patients,” Hammer said.

“We are ready to accept DNA from patients and carry out this type of study.”

Veeramah said the work could someday lead to specific treatments for those with serious diseases.

“Right now we are doing basic research to identify all the mutations involved. Down the line the goal is to design drugs that specifically target the affected pathways.”

Hammer said at the current cost of about $5,000 per fully sequenced genome, or $1,000 to sequence all the known human genes, the new approach could prove cost-efficient, too.

“The regular tests these patients would run up during their lifetime would vastly outweigh the cost of a whole-genome sequencing experiment.”

“Once you know what causes the condition, you can begin to be informed about management. Finding cures certainly is in the longer-run picture, even though it is not an option at this point. Until then, families suffer because they’re just sitting in the dark and wondering. Did something go wrong during pregnancy? Did I do something to cause the baby’s disorder? Finding the faulty gene can provide a vast amount of relief for the family.”

The research team published its results in the March issue of the American Journal of Human Genetics.

—

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Gene Mutation Responsible For Severe Form Of Epilepsy Identified

ScienceDaily (Feb. 23, 2012) — The many short pieces of mobile DNA that exist in the genome can contribute to significant biological differences between lineages of mice, according to a new study led by researchers at the Ohio State University Comprehensive Cancer Center -- Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC -- James).

The movable pieces of DNA are called transposons or "jumping genes" because they can move from one chromosomal location to another. Unlike viruses, they are not infectious and do not move from cell to cell. They have accumulated over time in the genomes of both mice and humans and now make up about half of genomic DNA in both.

For this study, researchers mapped the genomic locations of certain transposons called endogenous retroviruses (ERVs) in diverse mouse strains. They compared the different strains to learn how ERVs might influence gene expression. They found that ERVs can significantly disrupt gene expression by prematurely halting gene transcription, even when the ERV is located more than 12 thousand base pairs away in the same chromosome. They also found that the disruptive influence is affected by the gender of the parent that supplied the ERV.

The study is published online in the journal Genome Research.

"These findings add an interesting new angle to our understanding of fundamental mechanisms of natural variation and human biology, and possibly cancer and other diseases," says principal investigator Dr. David E. Symer, assistant professor of molecular virology, immunology and medical genetics and a member of the Human Cancer Genetics Program at the OSUCCC -- James.

"We showed that gene expression can be influenced very strongly by a transposon located quite a distance from the premature stop site -- up to many thousands of base pairs away in the genomic DNA. We also found that gene expression is influenced by whether the ERV was inherited from the father or the mother," he says.

A mouse gene containing an ERV inherited from the father often produced only an incomplete, truncated form of messenger RNA (mRNA); if the ERV came from the mother, not only the truncated transcript but also nearly normal levels of the full-length mRNA were produced from the gene.

"We believe this is an unusual, interesting example of a well-known phenomenon called DNA imprinting," Symer says. "We are now conducting experiments to understand how premature termination of gene expression can be triggered by the transposons, and also how the parent-of-origin effect occurs."

By comparing patterns of gene expression near the ERVs that were present or absent in the different strains, the researchers found about 100 genes whose expression appears to be disrupted when an ERV is present nearby.

"We observed very, very strong disruption of certain mouse genes by ERVs acting at a long genomic distance, and the resulting expression differences -- up to almost 50-fold changes -- can have major biological consequences that distinguish between the strains," Symer says.

Funding from the National Cancer Institute, the National Institute of General Medical Sciences and OSUCCC- James supported this research.

Other researchers involved in this study were Jingfeng Li, Keiko Akagi and Christopher J. W. Hlynialuk of Ohio State University; Yongjun Hu and David E. Smith of the University of Michigan; and Anna L. Trivett, Deborah A. Swing, Natalia Volfovsky, Robert M. Stephens, Tamara C. Morgan and Yelena Golubeva of the National Cancer Institute.

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The above story is reprinted from materials provided by Ohio State University Medical Center.

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

Journal Reference:

J. Li, K. Akagi, Y. Hu, A. L. Trivett, C. J. W. Hlynialuk, D. A. Swing, N. Volfovsky, T. C. Morgan, Y. Golubeva, R. M. Stephens, D. E. Smith, D. E. Symer. Mouse endogenous retroviruses can trigger premature transcriptional termination at a distance. Genome Research, 2012; DOI: 10.1101/gr.130740.111

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

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Mobile DNA elements can disrupt gene expression and cause biological variation, study shows

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/bceca2/gene_expression_to) has announced the addition of Elsevier Science and Technology's new report "Gene Expression to Neurobiology and Behaviour. Human Brain Development and Developmental Disorders" to their offering.

How does the genome, interacting with the multi-faceted environment, translate into the development by which the human brain achieves its astonishing, adaptive array of cognitive and behavioural capacities? Why and how does this process sometimes lead to neurodevelopmental disorders with a major, lifelong personal and social impact?

This volume of Progress in Brain Research links findings on the structural development of the human brain, the expression of genes in behavioural and cognitive phenotypes, environmental effects on brain development, and developmental processes in perception, action, attention, cognitive control, social cognition, and language, in an attempt to answer these questions.

Key Highlights:

Leading authors review the state-of-the-art in their field of investigation, and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Key Topics Covered:

The developing brain: from developmental biology to behavioural disorders and their remediation Brain development and the nature vs nurture debate The dynamics of ontogeny: A neuroconstructivist perspective on genes, brains, cognition and behaviour Molecular bases of cortico-cerebral regionalization Development and evolution: two determinants of cortical connectivity Postnatal brain development: structural imaging of dynamic neurodevelopmental processes VERP and brain imaging for identifying levels of visual dorsal and ventral stream function in typical and preterm infants Neurodevelopment of the visual system in typically developing children Perinatal brain damage in children: Neuroplasticity, early intervention and molecular mechanisms of recovery The impact of perinatal stress on the functional maturation of prefronto-cortical synaptic circuits: implications for the pathophysiology of ADHD The processing of social stimuli in early infancy: From faces to biological motion perception Social and attention factors during infancy and the later emergence of autism characteristics How Special is Social Looking in ASD: A Review Developmental disorders of speech and language: from genes to brain structure and function Precursors to language in preterm infants: speech perception abilities in the first year of life From genes to brain development to phenotypic behaviour: 'dorsal stream vulnerability' in relation to spatial cognition, attention and planning of actions in Williams syndrome (WS) and other developmental disorders Neurocognitive development of attention across genetic syndromes: Inspecting a disorder's dynamics through the lens of another Connectivity and the corpus callosum in autism spectrum conditions: insights from comparison of autism and callosal agenesis Biological and social influences on cognitive control processes dependent on prefrontal cortex It's all in the head: Gene dosage and Williams Syndrome

For more information visit http://www.researchandmarkets.com/research/bceca2/gene_expression_to

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Research and Markets: Gene Expression to Neurobiology and Behaviour. Human Brain Development and Developmental Disorders

POSTED: 12:50 am HST February 24, 2012
UPDATED: 6:05 am HST February 24, 2012

HONOLULU -- GMOs. GE. Transgenic.?I think a lot of people actually don't even know what that means,? said Maui Councilmember Elle Cochran.Genetic Engineering has entered our food chain in a big way.In 2012, more than half of the crops grown in the United States are GMOs.According to the USDA, 88% of all corn crops, 90% of cotton crops, and 94% of soybean crops are GMO crops.In 2010, U.S. farmers planted 165 million acres of GMO crops.In fact, the U.S. uses more genetically modified seeds than any other country in the world.?This is the kind of corn we work with here,? said Fred Perlak, head of operations for Monsanto Hawaii, as he showed reporter Lara Yamada ears of corn in a Kunia field.?This is an important location for our worldwide operations. What we do here is build new varieties of corn and soybean,? Perlak said.?You actually take a bag and put it over the tassel, knock the pollen off, then take the bag and pour the pollen on top of the silts and then put another bag on so no additional pollen will come on,? he said.?And you do that how many times over?? said Yamada.?500,000 times on this farm alone in one year,? he said.?It's all about research and development here in the state,? said Cochran.Cochran is one of many Hawaii lawmakers keeping a close eye on what's happening in Hawaii.?What they create on Maui is what they're sending out worldwide. It's the top breed, the cream of the crop, so to speak,? she said.Cochran is concerned about GMO crops statewide.The Hawaii State Association of Counties presents a package to lawmakers every session.Cochran championed a provision to support GMO labeling.All counties approved it, except for Oahu, so that provision was dropped.?We had hours and hours of testimony, really heart-felt testimony,? she said.According to the Hawaii Crop Improvement Association, Monsanto is just one of five major companies planted here in the islands.There's also Syngenta, Dow AgroSciences, BASF, and Pioneer ? which is owned by DuPont.They are companies that own or lease 25,000 acres on Oahu, Kauai, Maui and Molokai, and they all test and grow genetically modified seeds.Perlak says it?s to add value to farmer's crops.?We?re talking about natural disease resistance, better root growth, longer stalks,? he said, giving a few examples.?We probably want to introduce something like 100 new varieties on an annual basis at Monsanto. To get those 100 varieties, we start with 100s of thousands,? he said.In genetic engineering, scientists insert new traits from a similar breed, or something completely different, right into the DNA of a plant or animal - and the reasons for doing it are endless:-Rainbow Papaya: genetically modified to resist the ring spot virus.-Soybeans: resistant to pesticides.-Corn: genetically modified to handle drought.-Rice: with added vitamins.And that's just the beginning:-Strawberries with flounder genes to resist frost.-Goats with spider genes to produce milk with silk fibers.-Pig's noses that glow in the dark - thanks to a jellyfish gene.The list goes on: plants and animals that grow faster, produce more, eat less, and leave less waste, but also make infection-fighting drugs, grow organs for human transplant, and treat chronic diseases.?These varieties will help increase the efficiency and productivity of farmers around the world, which has implications for all of us,? said Perlak.?You have people who are really up in arms,? said Cochran.She has not given up.She visited the capitol to keep the issue of what to do about GMOs on lawmakers' plates.And it?s an issue that's increasingly hard to ignore.?I'm digging more into it and learning and studying what it's about,? she said.Part 2: The Issues
Part 3: Laws, Lawmakers & Lawsuits

Copyright 2012 by KITV.com All rights reserved. This material may not be published, broadcast, rewritten or redistributed.

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The GMO Debate, Food For Thought Part 1

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New Delhi: Union Minister Jairam Ramesh on Saturday defended his decision to put a moratorium on Bt Brinjal and said that he has never been influenced by NGOs in taking decision on Genetically Modified (GM) foods, during his stint as Environment Minister.

Jairam Ramesh said no NGO influenced his decision to put a moratorium on Bt Brinjal, a statement that comes against the backdrop of PM raising questions about the role of foreign funded NGOs in blocking use of genetic engineering.

Speaking to CNN-IBN, Jairam said the wide-spread opposition to GM crops from several states and the lack of public-sector backed GM seeds guided his decision.

"On Bt Brinjal since I was directly involved I can confidently say no foreign NGOs influenced my view. The moratorium on Bt Brinjal was imposed on March 9, 2010. Almost two years have passed. I went though a seven month process of public consultation with scientists, NGOs, civil society organisations, farmer organisations in which 8000 people participated. I wrote to chief ministers. I wrote to 50 scientists across India and the world," said.

"Green Peace a foreign funded NGO accused me of propagating the line of Monsanto during a public hearing in Bangalore. So on Bt Brinjal, since I was directly involved, I can confidently say no NGOs influenced my views," Ramesh, said.

He said his position on Bt Brinjal was determined by the positions of state governments, the lack of consensus among the scientific community, the fact that the tests were not completed and there was no independent professional mechanism which will instill confidence in the public.

"I did not ban Bt Brinjal. I decided lets put moratorium. Lets fulfill all these four conditions and then revisit the whole issue," he said.

His remarks came in response to a question about allegations that some NGOs based in Scandinavian countries funded the protests against Bt Brinjal. His remarks also came against the backdrop of Prime Minister's comments that some NGOs based in the United States and Scandinavian countries were not "fully appreciative" of the development challenges India faces.

Ramesh said as Environment Minister he enforced the moratorium on Bt Brinjal on February nine, 2010 after going through a seven-month process of public consultation.

The Rural Development Minister said that there were four concerns on the Bt Brinjal. "There was no scientific consensus for the need for Bt Brinjal, scientists were divided. MS Swaminathan, the father of the green revolution had also raised questions. The full protocol of tests had not been completed. Unlike Bt Cotton, Bt Brinjal is something you eat every day. Safety and reliability tests had not been completed," he said.

"While the NGOs had a point of view, my position on Bt Brinjal was determined by opposition from state governments, lack of consensus among the scientific community, the fact that the tests had not been concluded, and there had been no independent professional regulatory mechanism, which could instil confidence in the public. That food crop which is going to be ingested are going to be safe for consumption. I did not ban Bt Brinjal. I said let's fulfill these four conditions and then revisit the issue," he added.

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Jairam defends controversial Bt Brinjal decision

Re "Label this one 'Do Not Touch'" (Dan Morain, Feb. 19): Morain's article shows a lack of understanding of the issues involved in genetic engineering with regard to foodstuffs, and an unfortunate willingness to accept the arguments of proponents of the technology rather than those who are critical of it.

I have been following this issue for over a decade, objectively looking at evidence on both sides, and have become convinced that there are serious questions with GMOs. At root is the fact that for the first time in the history of the planet, it has become possible for scientists to cross species boundaries as they endeavor to produce what are essentially new life forms.They may look like their natural counterparts, but they may contain genetic material from a variety of completely different life forms.

A tomato may contain material from animals, insects, vituses, bacteria, etc., together in a completely new mix. Consequences? Unknown! Problems already appearing.

-- Professor Robert Millar, Walnut Creek

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Genetic engineering more dangerous than Morain thinks

MANILA, Philippines - Different countries have different policies/rules on the use of genetic engineering techniques in agriculture and food production. Genetic engineering simply means that the genes of one organism are injected (cut-out and pasted) into the genome of another organism using the so-called gene-splicing techniques of biotechnology in a laboratory resulting in the creations of combinations of plants, animals, bacteria and viral genes that do not occur in nature or through traditional crossbreeding methods.

The products created through the technique of genetic engineering are the so-called GMO (genetically modified organisms) products or transgenic products.

The first genetically modified plants were introduced in the 1980s. Twenty years later (year 2000), genetically modified crops spread to about 44 million hectares of land from less than three (3) hectares in 1996. Common transgenic products include rice, corn, wheat, tomatoes, and soybeans.

To date, countries are not in total agreement as to the extent of regulations/rules the government should promulgate on GMOs. Some countries impose total ban on the production of GMO products because of the damage to human's health due to the presence of allergens, preservatives, and fertilizers used on GMO plants.

On the other hand, there are countries that impose no restrictions and allow the use of GMO products. Also, the reasons advanced using gene-splicing techniques are: it will result to bigger farm yield; higher profitability for the farmers; and cheaper prices of food.

Not many know that there at least thirty-two (32) countries that are imposing mandatory labeling for any product that has been genetically modified. For example, the European parliament passed on April 14, 2004, a rule that all products containing more than nine (0.9) percent of GMO must be labeled... including the labeling of animal feed containing GMOs. Once labeled, the GMOs are being allowed to be sold.

Yes, products containing genetically modified organisms (GMO) should be labeled as such. Also foods derived from GMO. This is the growing clamor of consumers here and abroad. And rightfully so. This is also adherence to the ''full disclosure'' relationship between sellers and buyers. And to use a more popular term for buyers - the consumers.

The consumers should be given the final option whether to patronize GMO products - especially food. Anyway, proponents of GMO products as well as those against such products both have the opportunity to sell their ideas as well as their products to the public. This is what democracy is all about.

By the way, there are countries that consider the use of labels to inform consumers in one country as a form of trade protectionism. Simply because the use of labels may limit the ability of GMO products to gain market access in one country. Different countries may also have different definitions of what is harmful to humans, animals, or environment.

The labeling of GMO products can either be initiated by the producers in the private sector or by the government. In the first case, the labeling is voluntary. In the second case, it is mandatory to protect the consumers. In mandatory GMO-labeling, private firms are held accountable for misrepresentation.

In the US, there is no federal regulation requiring the mandatory labeling of GMO. What is heartening to note though is that there are legislators in individual states in US that are crafting their own labeling registration. For example, Senator Maralyn Chase of Washington State has sponsored a bill that would require both raw GMOs and processed foods containing GMOs to be properly labeled beginning July 2014.

Also, ''Ireland recently banned the growth of any genetically modified foods, and the country has also made available a GMO-free label that can be placed on animal products like meat, poultry, eggs and dairy, fish, and crustaceans, that are raised with feed free of GMOs.''

Prince Charles also once called GMOs the ''biggest environmental disaster of all time,'' while agriculture industrialists like Monsanto swear they're safe for human consumption and a boon for the environment.

While biotechnology is concededly a boom to mankind not only in the area of food production and agriculture but also in other areas like environment and health - there are groups clamoring for the imposition of health and safety measures as there may be disastrous consequences in ''messing with nature.''

Why the so-called ''messing with nature''? Simply because one of the major branches of biotechnology is genetic engineering. The subject of genetic engineering involves the manipulation of genes in humans, animals, and plants. Admittedly, there are advantages as well as disadvantages of genetic engineering. These advantages and disadvantages have to be clearly articulated to our consumers otherwise the anti-GMO sentiment will spread throughout the country - especially when it comes to GMO food products. Food safety is understandably a major concern of cautious consumers nowadays - with the prevalence of different kinds of cancer and other diseases.

Finally, this question as to whether or not our government should impose mandatory labeling of GMO products - especially GMO food products should be resolved soonest by our legislators.

Have a joyful day!

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GMO Labeling

Washington, Feb 24 (ANI): Scientists have identified genes whose expression levels can identify people with age-related macular degeneration (AMD) as well as tell apart its subtypes.

AMD is one of the leading causes of blindness worldwide, especially in developed countries, and there is currently no known treatment or cure or for the vast majority of AMD patients.

It is estimated that 6.5 percent of people over age 40 in the US currently have AMD. There is an inheritable genetic risk factor but risk is also increased for smokers and with exposure to UV light. Genome-wide studies have indicated that genes involved in the innate immune system and fat metabolism are involved in this disease.

However, none of these prior studies examined gene expression differences between AMD and normal eyes.

In order to address this question, researchers at the University of California Santa Barbara, the University of Utah John Moran Eye Center, and the University of Iowa combined forces and used a human donor eye repository to identify genes up-regulated in AMD. The ability of these genes to recognize AMD was tested on a separate set of samples.

The team discovered over 50 genes that have higher than normal levels in AMD, the top 20 of which were able to "predict" a clinical AMD diagnosis. Genes over-expressed in the RPE-choroid - a tissue complex located beneath the retina - included components of inflammatory responses, while in the retina, the researchers found genes involved in wound healing and the complement cascade, a part of the innate immune system.

They found retinal genes with expression levels that matched the disease severity for advanced stages of AMD.

"Not only are these genes able to identify people with clinically recognized AMD and distinguish between different advanced types - some of these genes appear to be associated with pre-clinical stages of AMD. This suggests that they may be involved in key processes that drive the disease. Now that we know the identity and function of many of the genes involved in the disease, we can start to look among them to develop new diagnostic methods, and for new targets for the development of treatments for all forms of AMD," Monte Radeke, one of the project leaders, said.

The study has been published in BioMed Central's open access journal Genome Medicine. (ANI)

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Genetic basis of age-related macular degeneration identified

FRIDAY, Feb. 24 (HealthDay News) -- Sudden Infant Death Syndrome (SIDS) may sometimes have a genetic component, a team of German researchers reports.

DNA analysis from a small group of infants who succumbed to SIDS revealed that many of the male children carried a particular enzyme mutation that may have impaired their ability to breath properly. This was not the case for female SIDS patients.

Study author Dr. Michael Klintschar, director of the Institute for Legal Medicine at Medical University Hannover in Germany, said his team tried to build upon previous research suggesting that "abnormalities in the brain stem, the part of the brain that regulates breathing and other basic functions, lead to SIDS."

"The reasons for these abnormalities are unclear," he noted, "but some scientists believe that the genes inherited by the parents might be one of several factors."

Klintschar and his colleagues found indications that SIDS risk might be higher among male infants who carry a mutation of an enzyme -- called MAOA -- that appears to impede key neurotransmitter function.

"Babies that have this variant inherited might have an impaired breathing regulation," he said. "But the risk conveyed by this gene variant is relatively small compared to other factors, like sleeping position [or exposure to] smoking. Moreover, the findings have to be replicated in another population sample."

The study appears online and in the March issue of Pediatrics.

The authors noted that SIDS is one of the great mysteries in pediatric medicine, with efforts to pin down the root cause for the sudden loss of children under the age of 1 year falling short of a definitive answer.

The new study focused on 156 white infants (99 boys and 57 girls) who were born in the Lower Saxony region of Germany and died while sleeping.

The deaths took place between the second and the 51st week of life, and all remained "unexplained" despite full autopsies, clinical history reviews and analyses of the circumstances of death.

DNA samples were taken from all the deceased, as well as from another 260 male adults between the ages of 18 and 30.

The result: MAOA mutations were more commonly found among male SIDS children than among their healthy male counterparts. This did not hold true with female SIDS children.

Most mutations appeared to be clustered within a specific time frame of death that correlated with the majority of SIDS fatalities. That is, infants who had died between the age of 46 days and 154 days -- the most prevalent period of SIDS deaths among the study group -- were significantly more likely to carry MAOA mutations than those children who died at ages above 5 months.

The authors concluded that among at least a subset of male SIDS patients, a genetic brain stem abnormality might be the driving force leading to their sudden loss.

"Our study furthers our understanding of the mechanism of SIDS," Klintschar said. "[But] it does not lead directly to a 'cure' of SIDS. And up to now [it] does not enable a lab test to estimate the individual risk of a baby to die from SIDS. But it emphasizes that measures already recommended to prevent SIDS -- using pacifiers, avoid sleeping in the prone position, no smoking during pregnancy -- make sense. Mothers of families with a prior SIDS case in the family should be more careful than others. But in most cases, obeying these recommendations keeps the baby safe."

However, while also an advocate of such basic preventive measures, Dr. Warren Guntheroth, a professor of pediatrics at the University of Washington School of Medicine in Seattle, holds no stock in a genetic basis for SIDS.

"I think it's nonsense," he said. "There's years and years of research that has shown that SIDS is not inherited. Not genetic. The only genetic link I will admit to is that males are definitely more at risk than females. But apart from that, I think fooling around with laboratory studies of genes and saying that that might cause SIDS is a far reach."

So what can parents do?

"Probably one of the most important things is not to put the baby on its tummy for sleep. That reduces risk by 50 percent," Guntheroth said. "Another is the use of the pacifier. Pacifiers, for reasons nobody understands well, reduces the risk. Also, don't overheat the child, by overdressing or putting the infant in a room that is too hot. Finally, cigarettes increase the risk terribly. Living with a parent that smokes is a definite risk factor, so the parent can do themselves and the child a favor by quitting or at least not smoking in the same area as the child."

More information

For more on SIDS, visit the U.S. National Library of Medicine.

Read more here:
Gene Might Be a Culprit in Sudden Infant Death for Boys

NEW YORK, Feb. 23, 2012 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

Radiation Therapy in Oncology Drug Pipeline Update 2012

http://www.reportlinker.com/p0284931/Radiation-Therapy-in-Oncology-Drug-Pipeline-Update-2012.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Therapy

This drug pipeline update is structured around radiolabeled drugs, radiosensitizers and radioprotective compounds.

There are today 318 companies plus partners developing 335 radiation therapy drugs in 663 developmental projects in cancer. In addition, there are 6 suspended drugs and the accumulated number of ceased drugs over the last years amount to another 123 drugs. Radiation Therapy In Oncology Drug Pipeline Update lists all drugs and gives you a progress analysis on each one of them. Identified drugs are linked to 172 different targets. These targets are further categorized on in the software application by 51 classifications of molecular function and with pathway referrals to BioCarta, KEGG and NetPath.

How May Drug Pipeline Update Be of Use?

* Show investors/board/management that you are right on top of drug development progress in your therapeutic area.

* Find competitors, collaborations partners, M&A candidates etc.

* Jump start competitive drug intelligence operations

* Excellent starting point for world wide benchmarking

* Compare portfolio and therapy focus with your peers

* Speed up pro-active in-/out licensing strategy work

* Fast and easy way of tracking drugs using search engines; just one click from inside the application and you may search the World Wide Web and PubMed for any drug.

Drug Pipeline Update is delivered to you as a downloadable application, which requires no installation on your computer. Please read more about application features and system requirements below.

Drug Pipeline Update at a Glance

Investigators

Includes more than 318 principal investigators plus their collaborators. There is direct access from inside the application to web pages of all principal investigators.

Note: You are able to sort and find drugs according to investigators and partners from drop-down menus in the application. You may also sort and find drugs according to country of investigator.

Drug name & Synonyms

Lists commercial, generic and code names for drugs.

Developmental stage

This Drug Pipeline Update contains 335 radiation therapy drugs in development, which have a total of 663 developmental projects in cancer. In addition there are suspended and ceased drugs.

Pipeline Breakdown According to Number of Drugs

Marketed# 89

Registered# 1

Pre-registration# 5

Phase III# 36

Phase II# 93

Phase I# 66

Preclinical# 115

No Data# 1

Suspended# 6

Ceased# 123

Note: You are able to sort and find drugs according to developmental stage from drop-down menu in the application.

Indications

Included radiation therapy drugs are also in development for 245 other indications, where of 81 are different cancer indications.

Note: You are able to find and sort drugs according to type of indication from drop-down menu in the application.

Targets

Identified drugs are linked to more than 172 different targets, divided into 51 classifications of molecular function:

- ATPase activity

- Carboxypeptidase activity

- Catalytic activity

- Cell adhesion molecule activity

- Chaperone activity

- Chemokine activity

- Complement activity

- Cytokine activity

- Cytoskeletal protein binding

- DNA binding

- DNA repair protein

- DNA topoisomerase activity

- DNA-directed DNA polymerase activity

- DNA-methyltransferase activity

- Extracellular matrix structural constituent

- G-protein coupled receptor activity

- Glutathione transferase activity

- Growth factor activity

- Growth factor binding

- GTPase activator activity

- Hydrolase activity

- Intracellular ligand-gated ion channel activity

- Ion channel activity

- Kinase activity

- Ligand-dependent nuclear receptor activity

- Ligase activity

- Lipid kinase activity

- Lipid phosphatase activity

- Metallopeptidase activity

- MHC class I receptor activity

- Molecular function unknown

- Oxidoreductase activity

- Peptide hormone

- Phosphoric diester hydrolase activity

- Protease inhibitor activity

- Protein serine/threonine kinase activity

- Protein threonine/tyrosine kinase activity

- Protein-tyrosine kinase activity

- Receptor activity

- Receptor binding

- Receptor signaling complex scaffold activity

- Receptor signaling protein serine/threonine kinase activity

- Serine-type peptidase activity

- Structural constituent of cytoskeleton

- Superoxide dismutase activity

- Transcription factor activity

- Transferase activity

- Transmembrane receptor activity

- Transmembrane receptor protein tyrosine kinase activity

- Transporter activity

- Ubiquitin-specific protease activity

Identified targets are categorized into 20 different primary and alternate sub-cellular localizations:

- Cell surface

- Centrosome

- Clathrin-coated vesicle

- Cytoplasm

- Cytoskeleton

- Cytosol

- Endoplasmic reticulum

- Endosome

- Extracellular

- Golgi apparatus

- Integral to membrane

- Lysosome

- Microtubule

- Mitochondrion

- Nucleolus

- Nucleus

- Perinuclear region

- Plasma membrane

- Secreted

- Secretory granule

Note: You are able to find and sort drugs according to target gene name, molecular function of target, and target localization from drop-down menus in the application.

Target Expression Profile

Direct links are provided from inside the application to 201 protein expression profiles of 120 drug targets in various human tissues and cancer types, cell lines and primary cells, including up to:

- 48 different normal tissue types

- 20 different types of cancer

- 47 cell lines

- 12 samples of primary blood cells

Pathway Referals

Identified targets have been cross referenced against their involvement in different cellular pathways, according to BioCarta, KEGG and NetPath.

- BioCarta# 216 Pathways

- KEGG# 117 Pathways

- NetPath# 25 Signaling Pathways

Note: You are able to find and sort drugs according to targeted pathways from drop-down menus in the application.

Mechanism

In total there are different drug mechanism of action represented in this Drug Pipeline Update.

Note: You are able to find and sort drugs according to mechanism of action from drop-down menu in the application.

Compound

Identified drug compounds are described by:

Compound type, Chemical name, CAS Number and molecular weight

Note: You are able to sort and find drugs according to compound type from drop-down menu in the application.

Drug Profile

Progress analysis and review of drug development. A typical drug profile reports on, depending on stage of development and available information:

Drug Name & Synonyms

Presentation of drug name and synonyms

Principal Investigator & Partners

Presentation of principal investigator and partners

Target and Molecular Function of Target

Described target(s) is/are presented with:

Official Gene Symbol – Official Gene Name [Species/Homo Sapiens] – Molecular Function

Target Localization

Described target(s) is/are presented with primary and alternate localizations.

Target Expression Profiles

Links to protein expression profile(s) of target(s) in various human tissues, cell lines and primary cells, including up to:

48 different normal tissue types

20 different types of cancer

47 cell lines

12 samples of primary blood cells

Targeted Pathways

Described target(s) is/are matched for the involvement in cellular pathways according to BioCarta, KEGG, and NetPath.

Mechanism

Drug mechanism of action

Developmental Projects

Summary field of developmental projects for the drug, including indication, developmental stage and status.

Example:

Cancer, myeloma – Phase II Clinical Trial – Active

Cancer, prostate – Phase III Clinical Trial – Ceased

Drug Description

Short introduction to drug

Compound Data

Compound type, Chemical name, CAS Number and molecular weight

Patent Data

Available patent information related to the drug is presented here.

Business & Markets

Collaborations and deals

Approvals and submissions

Analyst comments

Phase III Data

Available Phase III development data, developmental history and scientific data.

Phase II Data

Available Phase II development data, developmental history and scientific data.

Phase I Data

Available Phase I development data, developmental history and scientific data.

Preclinical Data

Available preclinical development data, developmental history and scientific data.

Licensing Information

Availability for licensing

Application Features

Use 13 different parameters, available in drop-down menus, to find and sort among drugs

- Drug status

- Clinical Trial Status

- Principle Investigator

- Partners

- Indication

- Developmental Stage

- Compound Type

- Mechanism

- Target

- Molecular Function of Target

- Target Localization

- Targeted Pathways

- Free text search of entire drug profile contents

Direct linkage from inside the application to related internet resources

- Drug data is linked to search engines like Google and PubMed

- Drug target data is linked directly to BioCarta, Human Protein Atlas, KEGG, and NetPath

- Direct links to company web pages of principal investigators

Dynamic Report Generator

Our dynamic report generator lets you with ease and speed generate html reports directly in your web browser (Internet Explorer and FireFox), whether it is a single drug profile or an entire search you want have a report of.

System Requirements

- Operating system: Windows (2000/XP/Vista/7) and Mac OS X 10.6 (Snow Leopard) and OS X 10.7 (Lion)

- Browser Application (Internet Explorer)

- Internet access (to access related internet resources)

To order this report:

Therapy Industry: Radiation Therapy in Oncology Drug Pipeline Update 2012

More  Market Research Report

Check our  Industry Analysis and Insights

CONTACT:
Nicolas Bombourg
Reportlinker
Email: nbo@reportlinker.com
US: (805)652-2626
Intl: +1 805-652-2626

Read more from the original source:
Radiation Therapy in Oncology Drug Pipeline Update 2012

Public release date: 22-Feb-2012
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Contact: Genevieve Maul
Genevieve.maul@admin.cam.ac.uk
44-122-376-5542
University of Cambridge

The offspring of women who were given micronutrient supplements (minerals needed in small quantities, such as iron, iodine and vitamin A) before they became pregnant had gene modifications at birth as well as when they were tested at 9 months.

The changes to the genes, called methylation, have previously been associated with the development of the immune system, although this study did not provide direct evidence that the activity of these genes has changed. The research, funded by the BBSRC, was published today in the journal Human Molecular Genetics in advance online publication (DOI number DDS026).

Professor Nabeel Affara, lead author of the study from the University of Cambridge, said: "The mechanism by which micronutrients influence methylation changes is still to be worked out, but it is known from other work that the genes of the immune system undergo such changes as immune function develops, particularly in early postnatal stages and early childhood.

"These changes are part of the normal development of the immune system provided adequate nutrition is available. Where this is not the case, different patterns of methylation may occur, altering the activity of key genes and therefore potentially the effectiveness of the immune system. The result is likely to be reduced ability to fight infection and hence susceptibility to infectious diseases."

The study used DNA samples from a Medical Research Council (MRC) micronutrient supplementation trial where women attempting to get pregnant are given either a cocktail of micronutrients or a placebo until pregnancy is confirmed (approximately an 8 weeks period). The research was conducted in The Gambia where there is seasonal variation in the availability of micronutrients with an alternation between the dry season (when they harvest and food is plentiful) and the wet season (when there is less food available and therefore poorer nutrition). Individuals born in the wet, nutritionally poor season have been found to be more susceptible to infection.

Professor Affara added: "This has huge public health implications for regions of the world where food security is an issue. If we have an improved understanding of what nutrition is important and the mechanisms by which this important environmental factor interacts with gene function, we can target nutritional intervention to improve health in later life."

###

For additional information please contact:
Genevieve Maul, Office of Communications, University of Cambridge
Tel: direct, +44 (0) 1223 765542, +44 (0) 1223 332300
Mob: +44 (0) 7774 017464
Email: Genevieve.maul@admin.cam.ac.uk

Notes to editors:

1. The paper 'Periconceptional maternal micronutrient supplementation is associated with widespread gender related changes in the epigenome : a study of a unique resource in the Gambia will be published in the April 2012 edition of Human Molecular Genetics and as an on line advanced publication today, 22 February 2012.

2. About BBSRC - BBSRC is the UK funding agency for research in the life sciences and the largest single public funder of agriculture and food-related research.

Sponsored by Government, in 2010/11 BBSRC is investing around ?470 million in a wide range of research that makes a significant contribution to the quality of life in the UK and beyond and supports a number of important industrial stakeholders, including the agriculture, food, chemical, healthcare and pharmaceutical sectors.

BBSRC provides institute strategic research grants to the following:

The Babraham Institute, Institute for Animal Health, Institute for Biological, Environmental and Rural Studies (Aberystwyth University), Institute of Food Research, John Innes Centre, The Genome Analysis Centre, The Roslin Institute (University of Edinburgh) and Rothamsted Research.

The Institutes conduct long-term, mission-oriented research using specialist facilities. They have strong interactions with industry, Government departments and other end-users of their research.

For more information see: http://www.bbsrc.ac.uk

3. For almost 100 years the Medical Research Council has improved the health of people in the UK and around the world by supporting the highest quality science. The MRC invests in world-class scientists. It has produced 29 Nobel Prize winners and sustains a flourishing environment for internationally recognised research. The MRC focuses on making an impact and provides the financial muscle and scientific expertise behind medical breakthroughs, including one of the first antibiotics penicillin, the structure of DNA and the lethal link between smoking and cancer. Today MRC funded scientists tackle research into the major health challenges of the 21st century. http://www.mrc.ac.uk

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AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

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Exposure to micronutrients pre-pregnancy associated with gene modifications in offspring

Scientists have identified a new gene that may increase the risk of breast cancer, according to a new study from Finland.

In the study, mutations in this gene, called Abraxas,were linked to cases of hereditary breast cancer.

Researchers have now identified more than 10 genes that increase breast cancer risk; perhaps the most well-known of these are the BRCA1 and BRCA2 genes. But only about 20 percent of women with a family history of breast cancer have mutations in BRAC1 or BRAC2 — meaning in many cases, it's likely other genes are at work.

The mutation does not appear to be common — it was found in 2.4 percent of families with a history of breast cancer. But importantly, the mutation was not found in anyone without breast cancer in the study.

Because the study was conducted in Finland, future studies will need to investigatehow common the mutation is in other countries, said study researcher Roger Greenberg, an associate professor of cancer biology at the University of Pennsylvania School of Medicine.

In the future, women with a family history of breast cancer might be tested for the Abraxas mutation, Greenbergsaid.

Greenberg and colleagues found the Abraxas mutation in three of 125 breast cancer patients from families with a history of the condition. This gene had been suspected to play a role in breast cancer risk because it interacts with BRCA1.

When the researchers looked at an additional 991 breast cancer patients, they found the Abraxas mutation in one woman, who also turned out to have breast cancer in her family. None of the 868 healthy patients in the study had the Abraxas mutation.

The mutated Abraxas gene prevents cells from fixing damaged DNA, increasing the risk that a cell will become cancerous. The gene may increase the risk of other cancers as well. Indeed, one patient in the study was diagnosed with both breast andendometrial cancer, and some patients with the Abraxas mutation had family members with lung cancer, lip cancer and lymphoma.

More research is needed to know exactly how much of an increase in breast cancer risk the Abraxas mutation brings. But Greenberg noted women in the study with this mutation were diagnosed around the same age as those with BRCA1 and BRCA2 mutations — in their mid-40s.

Women with a mutation in BRCA1 or BRCA2 are about five times more likely to develop breast cancer in their lifetimes compared with women who do not have this mutation, according to the National Cancer Institute.

"Identifying more of these mutations will make it easier for patients to know their risk of developing breast cancer," said Dr. Kristin Byrne, chief of breast imaging at Lenox Hill Hospital in New York City, who was not involved in the study. Such genetic information may even help doctors better diagnose breast cancer. Most patients with the Abraxas mutation in the study had a type of breast cancer called lobular carcinoma, which is harder to detect on a mammogram. Knowing that a patient has this mutation might mean doctors use additional screening methods, such as MRI, Byrne said.

The study is published today (Feb. 22) in the journal Science Translational Medicine.

Pass it on: Some cases of hereditary breast cancer may be caused, in part, by mutations in a gene called Abraxas.

 

Copyright 2012 MyHealthNewsDaily, a TechMediaNetwork company. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.

Read more from the original source:
New breast cancer gene found

By Rachael Rettner
MyHealthNewsDaily

Scientists have identified a new gene that may increase the risk of breast cancer, according to a new study from Finland.

In the study, mutations in this gene, called Abraxas,were linked to cases of hereditary breast cancer.

Researchers have now identified more than 10 genes that increase breast cancer risk; perhaps the most well-known of these are the BRCA1 and BRCA2 genes. But only about 20 percent of women with a family history of breast cancer have mutations in BRAC1 or BRAC2 — meaning in many cases, it's likely other genes are at work.

The mutation does not appear to be common — it was found in 2.4 percent of families with a history of breast cancer. But importantly, the mutation was not found in anyone without breast cancer in the study.

Because the study was conducted in Finland, future studies will need to investigate how common the mutation is in other countries, said study researcher Roger Greenberg, an associate professor of cancer biology at the University of Pennsylvania School of Medicine.

In the future, women with a family history of breast cancer might be tested for the Abraxas mutation, Greenberg said.

Greenberg and colleagues found the Abraxas mutation in three of 125 breast cancer patients from families with a history of the condition. This gene had been suspected to play a role in breast cancer risk because it interacts with BRCA1.

When the researchers looked at an additional 991 breast cancer patients, they found the Abraxas mutation in one woman, who also turned out to have breast cancer in her family. None of the 868 healthy patients in the study had the Abraxas mutation.

The mutated Abraxas gene prevents cells from fixing damaged DNA, increasing the risk that a cell will become cancerous. The gene may increase the risk of other cancers as well. Indeed, one patient in the study was diagnosed with both breast and endometrial cancer, and some patients with the Abraxas mutation had family members with lung cancer, lip cancer and lymphoma.

More research is needed to know exactly how much of an increase in breast cancer risk the Abraxas mutation brings. But Greenberg noted women in the study with this mutation were diagnosed around the same age as those with BRCA1 and BRCA2 mutations — in their mid-40s.

Women with a mutation in BRCA1 or BRCA2 are about five times more likely to develop breast cancer in their lifetimes compared with women who do not have this mutation, according to the National Cancer Institute.

"Identifying more of these mutations will make it easier for patients to know their risk of developing breast cancer," said Dr. Kristin Byrne, chief of breast imaging at Lenox Hill Hospital in New York City, who was not involved in the study. Such genetic information may even help doctors better diagnose breast cancer. Most patients with the Abraxas mutation in the study had a type of breast cancer called lobular carcinoma, which is harder to detect on a mammogram. Knowing that a patient has this mutation might mean doctors use additional screening methods, such as MRI, Byrne said.

The study is published today (Feb. 22) in the journal Science Translational Medicine.

Follow MyHealthNewsDaily staff writer Rachael Rettner on Twitter@RachaelRettner.

Visit link:
New breast cancer gene discovered

Public release date: 23-Feb-2012
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Contact: Don Campbell
dcampbell@utsc.utoronto.ca
416-208-2938
University of Toronto Scarborough

TORONTO, ON ? A University of Toronto Scarborough (UTSC) researcher is examining how environmental triggers might alter gene function in people with Chronic Fatigue Syndrome. The research could lead to better insights into the disease and eventually to new treatments.

Patrick O. McGowan, professor in the department of biological sciences and director of UTSC's Laboratory for Epigenetic Neuroscience, is looking at how environmentally triggered changes to gene expression might alter immune function and stress response in ways that contribute to the disease.

McGowan's field of study is epigenetics ? long-term changes in gene function that do not change the underlying DNA sequence. An epigenetic change wouldn't change a gene itself, but would influence whether, when and how the gene is turned off. Epigenetic changes can be caused by environmental triggers such as infections, toxins, stress, nutrition, and even the social environment.

McGowan will conduct the study into the epigenetics of CFS with a grant from the CFIDS Association of America. As part of the grant, he will have access to the SolveCFS Biobank, a collection of biological samples from CFS patients.

CFS, also known as Chronic Fatigue and Immune Dysfunction Syndrome (CFIDS), is a complex and debilitating chronic illness that affects the brain and multiple body systems. Symptoms include incapacitating fatigue and problems with concentration and short-term memory. Millions of North Americans are thought to suffer from the disease.

McGowan will look specifically at the relationship between a system called the hypothalamic-pituitary-adrenal (HPA) axis and immune function. The HPA axis is involved in the regulation of the stress response, and has effects on immune function and inflammation through cellular signaling mechanisms involving the steroid glucocorticoid.

McGowan's hypothesis is that there is an epigenetic mechanism in CFS that disrupts glucocorticoid signaling in white blood cells called lymphocytes. By studying tissue samples from the SolveCFS Biobank he hopes to pinpoint the mechanism.

###

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AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

Read the rest here:
Research examines environmental triggers altering gene function in CFS patients

Prime Minister Manmohan Singh has criticised non-governmental organisations that receive support from abroad for stalling the use of genetic engineering in agriculture and leading protests against the Kudankulam nuclear power plant in Tamil Nadu.

In an interview published in the latest issue of journal Science, Dr. Singh pointed to the potential of biotechnology, saying “in due course of time we must make use of genetic engineering technologies to increase the productivity of our agriculture.”

But controversies had arisen. “There are NGOs, often funded from the United States and the Scandinavian countries, which are not fully appreciative of the development challenges that our country faces.”

Then, referring to the protests at Kudankulam, he said: “the atomic energy programme has got into difficulties because these NGOs, mostly I think based in the United States, don't appreciate need for our country to increase the energy supply.”

Asked whether nuclear power had a role in India despite the Fukushima disaster in Japan, he said, “Yes, where India is concerned, yes. The thinking segment of our population certainly is supportive of nuclear energy.”

On investment in R&D, he reiterated the view that such spending should be raised from about 1per cent of the GDP (Gross Domestic Product) to about 2 per cent. Public sector spending on research as a proportion of the GDP was “roughly the same” as that of other developing countries. “It is the private sector in our country which has to do a lot more.”

Over the next five years, the effort would be to gradually increase the proportion of money spent on R&D and at the same time “create a system of incentives which will induce the private sector to increase their spending on science and technology.”

To a question whether India was competing with China, he said the two countries were at a stage of development where both had to compete and cooperate.

Visit link:
Manmohan criticises NGOs for protests in Kudankulam

SAN DIEGO, Feb. 22, 2012 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM - News), a life sciences company providing innovative genetic analysis solutions, today announced that it has filed a motion for preliminary injunction against Aria Diagnostics ("Aria") to stop Aria from making, using, selling or offering for sale, importing or exporting, infringing tests for detecting fetal chromosomal aneuploidy, such as Aria's Harmony Prenatal Test™, pending the ultimate resolution of the litigation.

Sequenom's request for preliminary injunction follows the lawsuit filed on January 24, 2012, in the United States District Court for the Southern District of California, which alleges that Aria infringes U.S. Patent No. 6,258,540 ("'540 patent").  Sequenom is requesting that the district court quickly intervene to stop Aria Diagnostics' continued infringement of the '540 patent.

Sequenom Center for Molecular Medicine (Sequenom CMM) was the first to market a non-invasive prenatal diagnostics laboratory developed test (LDT) for chromosomal aneuploidy.  Sequenom CMM's MaterniT21™ PLUS LDT detects a genetic chromosomal anomaly known as Trisomy 21, the most common cause of Down syndrome, and also detects trisomies 18 and 13.  The test is available to physicians upon request in major metropolitan regions across the United States.

About Sequenom

Sequenom, Inc. (NASDAQ: SQNM - News) 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 Medicine

Sequenom Center for Molecular Medicine (Sequenom CMM®) has two CAP accredited and CLIA-certified molecular diagnostics reference laboratories dedicated to the development and commercialization of laboratory developed test for prenatal and eye conditions and diseases.  Utilizing innovative proprietary technologies, Sequenom CMM provides test results that can be used as tools by clinicians in managing patient care.  Testing services are available only upon request to 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.scmmlab.com for more information on laboratory testing services.

Forward-Looking Statements

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the outcome or resolution of, or expectations regarding the motion for preliminary injunction, the ultimate resolution of the litigation, the Company's commitment to improving healthcare through revolutionary genetic analysis solutions, and Sequenom CMM's dedication to the development and commercialization of laboratory developed tests, and changing the landscape in genetic diagnostics, are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially, including the risks and uncertainties associated with market demand for and acceptance and use by customers of products such as the MaterniT21 PLUS LDT, reliance upon the collaborative efforts of other parties, the Company's financial position, its ability to position itself for product launches and growth and develop and commercialize new technologies and products, particularly newer technologies such as noninvasive prenatal diagnostics, laboratory developed tests, and genetic analysis platforms, the Company's ability to manage its existing cash resources or raise additional cash resources, competition, intellectual property protection and intellectual property rights of others, government regulation particularly with respect to diagnostic products and laboratory developed tests, obtaining or maintaining regulatory approvals, litigation involving the Company, and other risks detailed from time to time in the Company's most recently filed Quarterly Report on Form 10-Q and Annual Report on Form 10-K for the year ended December 31, 2010, and other documents subsequently filed with or furnished to the Securities and Exchange Commission. These forward-looking statements are based on current information that may change and you are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this press release. All forward-looking statements are qualified in their entirety by this cautionary statement, and the Company undertakes no obligation to revise or update any forward-looking statement to reflect events or circumstances after the issuance of this press release.

(Logo:  http://photos.prnewswire.com/prnh/20040415/SQNMLOGO)

Original post:
Sequenom, Inc. Files Motion for Preliminary Injunction Against Aria Diagnostics

Public release date: 22-Feb-2012
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Contact: Karen Honey
press_releases@the-jci.org
734-546-5242
Journal of Clinical Investigation

Two independent groups of researchers ? one led by Adrian Clark, at Queen Mary University of London, United Kingdom; and the other led by Jean-Laurent Casanova, at The Rockefeller University, New York ? have now identified the disease-causing gene in patients with a complex inherited syndrome most commonly observed in the Irish Traveller community. As noted by Jordan Orange, at the University of Pennsylvania School of Medicine, Philadelphia, in an accompanying commentary, the new data provide deep mechanistic insight into a complex human condition and expand our understanding of the human immune and endocrine systems, both of which are disrupted in patients.

Within the Irish Traveller community, several families have been found to suffer from an inherited condition characterized by failure of the adrenal glands to produce adequate amounts of steroid hormones, abnormal development (in particular, retarded growth), and a deficiency in immune cells known as NK cells. Both groups of researchers found that mutations in the MCM4 gene are responsible for this complex inherited condition. The MCM4 gene is responsible for templating a protein that is required for DNA to replicate itself, something that happens every time a cell divides. Consistent with this, both groups of researchers found that the MCM4 mutations associated with disease caused genomic instability, something that they suggest might possibly put affected individuals at increased risk for cancer.

###

TITLE: MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

AUTHOR CONTACT:
Adrian J.L. Clark
Queen Mary University of London, Barts and the London School of Medicine and Dentistry, London, United Kingdom.
Phone: 44.20.7882.6202; Fax: 44.20.7882.6197; E-mail: a.j.clark@qmul.ac.uk.

View this article at: http://www.jci.org/articles/view/60224?key=cb4664b3464dffe5841c

ACCOMPANYING ARTICLE
TITLE: Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

AUTHOR CONTACT:
Jean-Laurent Casanova
The Rockefeller University, New York, New York, USA.
Phone: 212.327.7331; Fax: 212.327.7330; E-mail: jean-laurent.casanova@rockefeller.edu.

View this article at: http://www.jci.org/articles/view/61014?key=9c3e63bab008bc523ccd

ACCOMPANYING COMMENTARY
TITLE: Unraveling human natural killer cell deficiency

AUTHOR CONTACT:
Jordan S. Orange
University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Phone: 267.426.5622; Fax 267.426.0947; E-mail: orange@upenn.edu.

View this article at: http://www.jci.org/articles/view/62620?key=7b2cf2771a25813f75d8

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Uncovered: Genetic cause of complex disease seen in Irish Traveller community

Public release date: 23-Feb-2012
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Contact: Dr. Habibul Ahsan
habib@uchicago.edu
773-834-9956
Public Library of Science

A large-scale genomic study conducted in Bangladesh has discovered genetic variants that control arsenic metabolism and elevate the risk of skin lesions in people chronically exposed to arsenic. In PLoS Genetics, researchers from the University of Chicago, Columbia University, the International Center for Diarrheal Disease Research in Bangladesh, and the University of North Carolina report that genetic variants found near the enzyme for metabolizing the chemical into a less toxic form are associated with an individual's risk of developing arsenic-related disease.

Since the installation of hand-pumped wells to tap groundwater sources in the 1970s, as many as 77 million people ? about half the population of Bangladesh ? have been accidentally exposed to dangerous levels of arsenic. The World Health Organization calls the exposure "the largest mass poisoning of a population in history" (WHO, 2000).

For over a decade, Habibul Ahsan and colleagues have studied the epidemiology of arsenic-related diseases such as skin lesions, diabetes, and cardiovascular and respiratory illnesses in this population, as well as the effectiveness of interventions to prevent toxicity. In this new study, nearly 3,000 Bangladeshis were genotyped for variants throughout the genome, in a search for answers as to why some individuals appear to be at higher risk for developing disease after arsenic exposure.

The research team found genetic variants associated with arsenic metabolite levels and skin lesion risk in the region of a likely candidate gene: arsenite methyltransferase, an enzyme critical for arsenic metabolism. A study of gene expression levels found that those same variants were associated with reduced expression of the enzyme. Boosting arsenic metabolism may be an effective intervention in individuals exposed to the toxin and at high genetic risk from arsenic-related disease.

"These results add clarity to the genetic architecture that is playing a role in the arsenic toxicity and its underlying biological basis," said Ahsan. "It's an important study for a major problem affecting millions of people around the world, and it opens up opportunities for genetic studies of other major public health problems in developing countries."

###

FINANCIAL DISCLOSURE: This work was supported by NIH Grants P42ES010349, R01CA102484, R01CA107431, and P30CA014599 and by Department of Defense grant W81XWH-10-1-0499. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

COMPETING INTERESTS: The authors have declared that no competing interests exist.

CITATION: Pierce BL, Kibriya MG, Tong L, Jasmine F, Argos M, et al. (2012) Genome-Wide Association Study Identifies Chromosome 10q24.32 Variants Associated with Arsenic Metabolism and Toxicity Phenotypes in Bangladesh. PLoS Genet 8(2): e1002522. doi:10.1371/journal.pgen.1002522

CONTACT:

Habibul Ahsan
University of Chicago
Health Studies, Medicine and Human Genetics and Cancer Research
AMB N102A (MC 2007)
5841 South Maryland Avenue,
Chicago, Illinois 60637

UNITED STATES
PHONE: 773-834-9956
FAX: 773-834-0139
EMAIL: habib@uchicago.edu

Disclaimer

This press release refers to an upcoming article in PLoS Genetics. The release is provided by journal staff, or by the article authors and/or their institutions. Any opinions expressed in this release or article are the personal views of the journal staff and/or article contributors, and do not necessarily represent the views or policies of PLoS. PLoS expressly disclaims any and all warranties and liability in connection with the information found in the releases and articles and your use of such information.

About PLoS Genetics

PLoS Genetics (http://www.plosgenetics.org) reflects the full breadth and interdisciplinary nature of genetics and genomics research by publishing outstanding original contributions in all areas of biology. All works published in PLoS Genetics are open access. Everything is immediately and freely available online throughout the world subject only to the condition that the original authorship and source are properly attributed. Copyright is retained by the authors. The Public Library of Science uses the Creative Commons Attribution License.

About the Public Library of Science

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Genetic variants affect arsenic metabolism and toxicity in Bangladesh

By MICHAEL SASSO | The Tampa Tribune
Published: February 23, 2012 Updated: February 23, 2012 - 12:00 AM

TAMPA --

The man who served for the last decade as chief of the H. Lee Moffitt Cancer Center & Research Institute is leaving his post to lead Moffitt's genetic research lab and its new Personalized Medicine Institute.

The move is a new direction for Dr. William Dalton, rather than a promotion or demotion, he said. Dalton will focus on helping Moffitt capitalize on "personalized medicine" — finding ways to tailor cancer treatment to specific patients.

Dr. Alan List, a Moffitt executive vice president who leads its physicians group, will take over as Moffitt's chief executive officer in July.

"I just see it as a new journey for me at Moffitt," Dalton said.

A self-proclaimed "desert rat" from Arizona, Dalton came to Moffitt in 1997 to help lead its clinical research. He left for a spell in the early 2000s to lead the University of Arizona's medical school but returned to Moffitt in August 2002 as chief executive, a bio on Moffitt's website says.

Dalton has been very involved lately in Moffitt's innovative genetics lab, M2Gen, and his new post will let him focus on it even more.

M2Gen hasn't lived up to its promise, though. The lab has collected thousands of tumor samples in five years and studied their unique genetic makeup. Eventually, researchers may use the tumor research to find better treatments for cancer patients.

But it hasn't yet helped spawn a biomedical industry in Tampa, something civic leaders are counting on. Also, in November, M2Gen lost its second chief executive in two years.

Dalton insists the genetics lab has had a run of good news lately, persuading the drug giant Merck & Co. to continue as a partner for another year. Merck has been M2Gen's biggest financial supporter.

Two unnamed companies also signed deals with M2Gen to tap into its tumor research, Dalton said.

Aside from leading M2Gen, Dalton also will lead a new Personalized Medicine Institute at Moffitt, allowing him to get Moffitt's doctors and researchers more involved in M2Gen and personalized medicine.

Dalton is well-known in Tampa Bay-area business circles and is a member of an exclusive group of business leaders called the No Name Group. The group meets once a month at The Capital Grille in Tampa and other restaurants to talk community affairs.

People who have worked with Dalton praised his tenure as Moffitt's leader.

Robert Rothman, chairman of Moffitt's board, said it was Dalton's idea to switch to running M2Gen and personalized cancer care full-time.

"We concluded this is really a unique opportunity for the center," Rothman said. "We couldn't think of a better person to lead the effort than Bill."

Dalton negotiated a partnership with All Children's Hospital in the mid-2000s, where All Children's collaborates with Moffitt on pediatric cancer cases.

"Besides being a very good physician, he's also been a great person for us to work with," said All Children's President and Chief Executive Officer Gary Carnes.

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Moffitt chief to lead genetic research lab unit

Public release date: 23-Feb-2012
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Contact: Robert Mitchum
robert.mitchum@uchospitals.edu
773-795-5227
University of Chicago Medical Center

One of the first large-scale genomic studies conducted in a developing country has discovered genetic variants that elevate the risk for skin lesions in people chronically exposed to arsenic. Genetic changes found near the enzyme for metabolizing the chemical into a less toxic form can significantly increase an individual's risk for developing arsenic-related disease.

The discovery could point the way to new screening and intervention options for people who are exposed to groundwater with high levels of arsenic, said scientists at the University of Chicago Medicine, Columbia University, and in Bangladesh in a study published in PLoS Genetics.

"These results add clarity to the genetic architecture that is playing a role in arsenic toxicity and its underlying biology," said senior author Habibul Ahsan, MD, MMedSc, Louis Block Professor of health studies, medicine and human genetics at the University of Chicago Medicine. "It's a rare type of study for a major problem affecting millions of people around the world, and it opens up opportunities for genetic studies of other major public health problems in developing countries."

The group's genome-wide association study, or GWAS, was conducted in nearly 3,000 individuals exposed to arsenic for decades in Bangladesh. Since the widespread installation of hand-pumped wells to tap groundwater sources in the 1970s, as many as 77 million people ? about half the population of Bangladesh ? have been accidentally exposed to dangerous levels of arsenic. The World Health Organization calls the exposure "the largest mass poisoning of a population in history."

For more than a decade, Ahsan and colleagues have studied the epidemiology of arsenic-related disease, such as skin lesions, diabetes, and respiratory illnesses, in this population, as well as the effectiveness of interventions to prevent toxicity. In the new study, funded by the National Institute of Environmental Health Sciences and the National Cancer Institute, the researchers sought genetic answers for why some individuals appear to be at higher risk for developing disease after arsenic exposure.

"Whatever the source of exposure, different individuals vary with respect to their susceptibility to the toxicity of arsenic," Ahsan said. "Even if they consume or are exposed to arsenic at the same dose and duration, some individuals will manifest toxicity phenotypes and others won't."

Researchers genotyped thousands of arsenic-exposed individuals from the group's main studies for single nucleotide polymorphisms (SNPs) throughout the genome, and looked for associations with arsenic metabolite levels and risk of skin lesions.

After ingestion, the body metabolizes inorganic arsenic into first monomethylarsonic acid (MMA) and then dimethylarsinic acid (DMA). MMA is considered to be more toxic, while DMA is water-soluble and more easily excreted. Higher levels of DMA or lower levels of MMA measured from an individual's urine are associated with lower toxicity.

A research team led by Ahsan and Brandon Pierce, PhD, an assistant professor of epidemiology at the University of Chicago Medicine, then used GWAS to search for SNPs associated with DMA and MMA levels. They found several significant genetic variants in the region of a likely candidate gene: arsenite methyltransferase (As3MT), an enzyme critical for arsenic metabolism. A second GWAS looking for SNPs associated with the development of skin lesions after arsenic exposure, pointed to many of the same variants. In a further study of gene expression levels, those same SNPs were associated with reduced expression of the arsenic metabolizing enzyme.

"This makes perfect sense," Ahsan said. "It gives us a very coherent story that we can now investigate in relation to other arsenic pathologies and in relation to a wide range of arsenic doses in this population."

"Now that we understand the molecular basis of some of this disease risk, it is conceivable to now think of incorporating this information into testing, evaluating, or potentially coming up with successful biomedical interventions," Ahsan continued. "By exploiting these metabolic pathways for a subgroup of individuals who will really be at higher risk for getting those diseases, we may be able to reduce fatal outcomes in this population."

The genetic findings provide strong evidence that efficient metabolism of arsenic through methylation protects against the toxin. Compounds that boost methylation, such as folic acid, could reduce arsenic toxicity ? a strategy currently being tested by co-author Mary Gamble, PhD, associate professor of Environmental Health Sciences at Columbia University.

"If we could somehow find a way to do that in Bangladesh, it would make individuals much better methylators of arsenic, and as this current study shows if you're a better methylator you're at a lower risk for disease," said co-author Joseph Graziano, PhD, Professor of Environmental Health Sciences and Director of Superfund Research Program at the Mailman School of Public Health of Columbia University.

Risk variants may also help assess the potential toxicity of cancer chemotherapies which use arsenic or related compounds. SNPs associated with elevated sensitivity to arsenic toxicity could steer oncologists toward lower doses or alternative treatments in certain cancer patients, Ahsan said.

Beyond the clinical applications, the current study demonstrates that large-scale genomic studies are possible in a largely rural population of a developing country. The study offers a rare example of a GWAS result with clear, immediate potential for translational impact.

"Many genomic signals that we see are not robust enough or do not pertain to a large population," Ahsan said. "But in this study, that is not the case. The finding is robust, and the impact is massive."

###

The study, "Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh," will be published online February 23rd by PLoS Genetics. For a full list of authors, see xxx.

Funding for the research was provided by the National Institute of Environmental Health Sciences and the National Cancer Institute.

For more news from the University of Chicago Medical Center, follow us on Twitter at @UChicagoMed, or visit our Facebook page at facebook.com/UChicagoMed, our research blog at sciencelife.uchospitals.edu, or our newsroom at uchospitals.edu/news.

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Genetic risk for elevated arsenic toxicity discovered

Myriad Genetics Inc. of Salt Lake City and other biotechnology companies can’t monopolize disease treatment by patenting human genetic material, an Australian trial was told this week in the country’s first challenge to ownership of DNA molecules.

Cancer Voices Australia, a national organization representing cancer patients, and Yvonne D’Arcy, a Brisbane resident diagnosed with breast cancer, sued Myriad Genetics and Genetic Technologies Ltd. in 2010 over a patent the companies have on a gene mutation associated with an increased risk of breast and ovarian cancers.

“Patents protect inventions, not discoveries,” Rebecca Silsenan, a partner at Maurice Blackburn Lawyers, who represents the plaintiffs, said before the trial. “No Australian court has considered the question of whether isolated human genes are patentable.”

Gene-sequencing breakthroughs are spawning a multibillion-dollar market for drugs and medical tests. In the United States, health regulators are developing rules for bolstering oversight of laboratory-developed tests and the U.S. Supreme Court may decide soon whether to hear two cases involving patents over genetic material, including a review of an appeals court decision that upheld Myriad Genetics’ patents.

Myriad Genetics contends in the Australian case that its screening process that includes an artificially made gene mutation mimicking the one that makes people more susceptible to breast and ovarian cancers should be eligible for a patent.

“You can’t use this to build another human being,” David Shavin, Myriad Genetics’ lawyer, told Federal Court Justice John Nicholas this week in his opening statement at the start of the trial in Sydney, referring to the process and mutation. “All you can use it for is to compare” normal and mutated genes.

Australian law allows for patents on artificially created products with economic benefits, including computer programs and business methods, Shavin said.

“The position in the United States is similar to, but not the same as, in Australia,” he said.

Story continues below

The Myriad Genetics process copies gene codes from people, the plaintiffs’ lawyer David Catterns told the judge in his opening statement.

If the plaintiffs isolated a mutation in a gene from a person’s blood, they would infringe the patent, Catterns said.

“The patent involves precisely the code that occurs in nature,” he said. “This is not patentable on traditional principles.”

The trial is scheduled to take as along as eight days.

“There is a philosophical and ethical issue about the commercialization of the human body,” Gilsenan said. “The patent owner has a right to prevent people from studying and testing for the same gene mutation, so gene patents can stifle research.”

The case is: Cancer Voices of Australia v. Myriad Genetics, NSD6743/2010. Federal Court of Australia, Sydney.

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Myriad Genetics’ cancer gene patents go to trial in Australia

SALT LAKE CITY, Feb. 22, 2012 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (Nasdaq:MYGN - News) announced today that Mark Capone, President, Myriad Genetic Laboratories, Inc., is scheduled to present at the Cowen and Company 32nd Annual Health Care Conference, at 8:00 a.m. Eastern Time on Tuesday, March 6, 2012. The conference is being held at The Boston Marriott Copley Place Hotel in Boston, Massachusetts.

The presentation will be available to interested parties through a live webcast accessible on the investor relations section of Myriad's website at http://www.myriad.com.

About Myriad Genetics

Myriad Genetics, Inc. (Nasdaq:MYGN - News) is a leading molecular diagnostic company dedicated to developing and marketing transformative tests to assess a person's risk of developing disease, guide treatment decisions and assess a patient's risk of disease progression and disease recurrence. Myriad's portfolio of nine molecular diagnostic tests are based on an understanding of the role genes play in human disease and were developed with a focus on improving an individual's decision making process for monitoring and treating disease. With fiscal year 2011 annual revenue of over $400 million and more than 1,000 employees, Myriad is working on strategic directives, including new product introductions, companion diagnostics, and international expansion, to take advantage of significant growth opportunities. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

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Myriad Genetics to Present at the Cowen and Company 32nd Annual Health Care Conference

WESTMINSTER, Colo., Feb. 22, 2012 /PRNewswire/ -- GeneThera Inc. (OTCQB: GTHR.PK - News) announced today that Applied Genetics; GeneThera's majority owned subsidiary, has entered in an exclusive marketing and sales agreement with Nutricion Avanzada S.A. to market GeneThera's proprietary Johne's Disease HerdCheck™ Field Collection System (FCS) Molecular Assay. Under the terms of the agreement, Nutricion  Avanzada will have exclusive rights to purchase and distribute the FCS in Mexico."This agreement is a critical step to move forward with our agreement with Nutricion Avanzada through Applied Genetics and GeneThera," said Dr. Tony Milici, the CEO of GeneThera and also the Interim President of Applied Genetics. "Nutricion Avanzada's extensive distribution network and outstanding reputation throughout Mexico gives Applied Genetics the greatest opportunity for a successful revenue generating operation."  Sergio Gonzales, President of Nutricion Avanzada stated "We are very pleased to partner with Applied Genetics and GeneThera to market the Johne's HerdCheck™ FCS product. There is an enormous need in Mexico for a reliable diagnostic test to detect Johne's disease. This is the only commercial molecular test available in Mexico and we believe that it will have a huge impact with both the ranchers and the dairy industry."  Nutricion Avanzada S.A. is the largest Mexican distributor of animal feed. Applied Genetics is a molecular diagnostic company that focuses on commercializing molecular testing for Johne's disease in Mexico.

Johne's disease is a global devastating and incurable disease of dairy cows, sheep and goats caused by a bacterium called Mycobacterium Paratuberculosis sub. Avium, (MAP).  Dairy products, contaminated with MAP, are the vehicles by which the infection spreads in the human intestine triggering the onset of Crohn's disease. Applied Genetics employs the use of GeneThera HerdCheck™ to test and control the spread of Johne's disease in Mexico. HerdCheck™ is a proprietary molecular diagnostic system based on the use of high throughput robotics and Real time PCR.

About GeneThera, Inc.:

GeneThera, Inc. is a molecular biotechnology company located in Westminster, Colorado. The Company's proprietary diagnostic solution is based on a genetic expression system (GES) and Johne's disease management system, HERDCHECK™, designed to function on a highly automated Fluorogenic PCR platform. This platform enables GeneThera to offer tests that are presently not available from other technologies. The GES and HERDCHECK™ systems are designed for a host of individual diseases, the current priority being Johne's disease. For more information, contact Dr. Tony Milici at 720 439-3011. http://www.genethera.net

This press release contains forward-looking statements, which are made pursuant to the Safe-Harbor provisions of the Private Securities Litigation Reform Act of 1995. Words such as "intends," "believes," and similar expressions reflecting something other than historical fact are intended to identify forward-looking statements, but are not the exclusive means of identifying such statements. These forward-looking statements involve a number of risks and uncertainties, including the timely development and market acceptance of products and technologies, the ability to secure additional sources of finance, the ability to reduce operating expenses, and other factors described in the Company's filings with the Securities and Exchange Commission. The actual results that the Company achieves may differ materially from any forward-looking statement due to such risks and uncertainties. The Company undertakes no obligation to revise or update any forward-looking statements in order to reflect events or circumstances that may arise after the date of this release.

GeneThera, Inc

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Applied Genetics Signs Marketing and Sales Agreement with Nutricion Avanzada

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

Seattle Genetics, Inc. (Nasdaq: SGEN - News) today announced that Chris Boerner, Ph.D. has been promoted to Senior Vice President, Commercial. Dr. Boerner joined Seattle Genetics in November 2010 as Vice President, Marketing, and has served as a key member of the commercial organization involved in the launch of ADCETRIS™ (brentuximab vedotin). He replaces Bruce Seeley, former Executive Vice President, Commercial, who is leaving Seattle Genetics to pursue other opportunities.

“Chris has been a strategic leader in our commercial organization for more than a year, and has contributed significantly to the successful launch of ADCETRIS,” said Clay B. Siegall, Ph.D., President and Chief Executive Officer of Seattle Genetics. “He has brought to Seattle Genetics extensive experience from the commercialization and life-cycle management of several oncology products. We anticipate a seamless transition as we continue to execute on our commercial priorities to bring ADCETRIS to relapsed Hodgkin lymphoma and systemic ALCL patients in need.”

“Bruce has built a strong sales, marketing and reimbursement team that is executing extremely well on the commercialization of ADCETRIS,” added Dr. Siegall. “We thank him for his contributions in preparing the company for its transition to a commercial organization and his leadership through the early launch phase. We wish him the best in his future endeavors.”

Prior to Seattle Genetics, Chris Boerner spent more than eight years at Genentech, a member of the Roche Group, where he served in a variety of commercial roles, including Director of Marketing on Avastin and Director of Avastin franchise management. Additionally, he served in a variety of commercial roles across multiple disease areas, including solid tumor oncology, lymphoma and immunology. Dr. Boerner joined Genentech from McKinsey & Company, a global strategic management consulting firm, where he worked on a variety of pharmaceutical sales and marketing engagements. Prior to joining Seattle Genetics in 2010, he most recently led the marketing team at Dendreon. Dr. Boerner received his Ph.D. and M.A. in Business Administration from the Haas School of Business at the University of California, Berkeley, and holds an A.B. in Economics and History from Washington University in St. Louis.

About Seattle Genetics

Seattle Genetics is a biotechnology company focused on the development and commercialization of monoclonal antibody-based therapies for the treatment of cancer. The U.S. Food and Drug Administration granted accelerated approval of ADCETRIS in August 2011 for two indications. ADCETRIS is being developed in collaboration with Millennium: The Takeda Oncology Company. In addition, Seattle Genetics has three other clinical-stage ADC programs: SGN-75, ASG-5ME and ASG-22ME. Seattle Genetics has collaborations for its ADC technology with a number of leading biotechnology and pharmaceutical companies, including Abbott, Bayer, Celldex Therapeutics, Daiichi Sankyo, Genentech, GlaxoSmithKline, Millennium, Pfizer and Progenics, as well as ADC co-development agreements with Agensys, an affiliate of Astellas, and Genmab. More information can be found at http://www.seattlegenetics.com.

Certain of the statements made in this press release are forward looking, such as those, among others, relating to the company’s expectations for continued commercial success of ADCETRIS. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include, among others, that adverse events for ADCETRIS adversely affect the ability to successfully market ADCETRIS or that planned and future clinical trials do not support additional approvals in earlier lines of therapy or other malignancies. More information about the risks and uncertainties faced by Seattle Genetics is contained in the company’s Form 10-Q for the quarter ended September 30, 2011 filed with the Securities and Exchange Commission. Seattle Genetics disclaims any intention or obligation to update or revise any forward-looking statements, whether as a result of new information, future events or otherwise.

Continue reading here:
Seattle Genetics Provides Update on Commercial Leadership

The genetic code of the most common type of hereditary breast cancer has been mapped for the first time, raising hopes for better diagnosis and treatment for the killer disease, scientists have said.

Researchers say they have "fully sequenced" the DNA of two breast cancers caused by a faulty BRCA1 gene, which is responsible for aggressive and highly drug-resistant tumours.

The team from the Breakthrough Breast Cancer Research Centre at the Institute of Cancer Research (ICR) say they hope that their work will lead to more tailored treatment for patients.

Dr Rachael Natrajan, one of the scientists involved in the study, said: "It is exciting to find new genes which could be involved in causing and driving breast cancer. Now these have been identified we have to do more work to find out the role that they play. Ultimately, this knowledge could help us develop new treatments that target the specific defects of each patient's disease."

Breast cancers genetically passed down through families account for up to 10% of all cases, affecting around 4,500 people in the UK each year.

The scientists said cases caused by the BRCA1 gene are "usually aggressive" and "do not benefit" from targeted drugs such as tamoxifen and herceptin.

The research, published in the Journal of Pathology, found that despite both tumours being caused by the same source they mutated in almost completely different ways.

Professor Jorge Reis-Filho, who co-authored the study, said: "We often consider patients with a faulty BRCA gene as one group but our work shows that each tumour can look very different from each other genetically. Now we understand this, we can start to identify the best treatment strategies to save more lives of hereditary breast cancer patients."

The study also included teams from the Institut Curie in France, the University Medical Centre Utrecht in the Netherlands, The Cancer Research UK London Research Institute in London and the University of Nottingham.

Last week the ICR, writing in the British Journal of Cancer, said all women under 50 who are diagnosed with triple-negative (TN) breast cancer should be screened for the BRCA1 gene fault, which also carries with it an additional high risk of developing ovarian cancer. It said the screening could identify hundreds of extra women every year who may benefit from tailored therapy.

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Gene work raises breast cancer hope