Archive for the ‘Gene Therapy Research’ Category

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) Baylor College of Medicine's Medical Genetics Laboratory and Brazil's Dasa medical diagnostic laboratory announced on Friday an agreement to provide advanced genetic testing technology in that country.

Under the terms of the deal, Baylor's lab in Houston will conduct genetic testing and prepare a clinical report for Dasa, which will convey the results to the ordering physician in Brazil. The agreement also provides Dasa access to Baylor's database of clinical microarray results and access to Baylor's genetic research and diagnostic laboratory expertise, BCM said.

Luis Franco, assistant professor of molecular and human genetics at BCM, said in a statement that the collaboration is expected to create opportunities for technology transfer and the joint development of tests tailored to the Brazilian market.

Financial and other terms were not disclosed.

Dasa is Latin America's largest medical reference lab and the world's fourth-largest provider of diagnostic services, according to BCM.

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Baylor, Dasa Partner to Bring Genetic Testing to Brazil

WASHINGTON--(BUSINESS WIRE)--

A new report by UnitedHealth Groups (NYSE: UNH - News) Center for Health Reform & Modernization finds that a majority of physicians are utilizing genetic testing. The report, titled Personalized Medicine: Trends and prospects for the new science of genetic testing and molecular diagnostics, presents new findings on how genetic tests can help diagnose disease, target prevention, and ensure that patients receive the medicines that will best treat their conditions.

Genetic testing is currently available for about 2,500 conditions, including cancers and communicable diseases, and it is estimated to be growing by double digits annually. Full genome sequencing, which maps an individuals entire genetic code, is also expected to become widely available, possibly beginning as soon as later this year.

Genetic science offers unprecedented potential to prevent disease and improve diagnosis and treatment, ushering in an era of truly personalized care, said Simon Stevens, executive vice president, UnitedHealth Group, and chairman of the UnitedHealth Center for Health Reform & Modernization. But for patients to realize these practical benefits, we will also need new models of research and care delivery combined with informed choice and appropriate consumer safeguards.

The report sheds new light on three important questions:

What do U.S. doctors and patients think about genetic testing and molecular diagnostics?

How are these tests currently being used, and how might their use grow?

What practical action can be taken to ensure proper safeguards while accelerating progress for patients?

Report Includes New Survey Results on Patient and Physician Views on Genetic Testing

Most American consumers are optimistic about the potential benefits from advances in genetic testing, according to a national survey of U.S. adults conducted by UnitedHealth Group/Harris Interactive, included in the report. About three-quarters of survey respondents agree that genetic tests help doctors diagnose preventable conditions and offer more personalized treatment options. Most consumers expect that five years from now the use of testing will have increased. However, the coding system used across the country to monitor medical tests offers few codes to describe genetic tests for specific diseases.

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New Report Finds Greater Use of Genetic Testing, but Half of Physicians Concerned About Their Lack of Familiarity With ...

By Alex Nussbaum - Mon Mar 12 04:00:00 GMT 2012

Genetic tests may become a $25 billion annual market in the U.S. within a decade, highlighting the need to identify which exams work the best, insurer UnitedHealth Group Inc. (UNH) said.

A majority of the 1,800 DNA tests developed to identify or manage medical conditions still havent been studied enough to prove their effectiveness, UnitedHealth, the biggest U.S. insurer by sales, said in a report today. The technology generated $5 billion in 2010, the insurer said, and three to five new tests are being introduced each month.

The projections bode well for diagnostics companies including Genomic Health Inc. (GHDX), Myriad Genetics Inc. (MYGN) and Life Technologies Corp. (LIFE), said Daniel Leonard, a Leerink Swann & Co. analyst in New York. They also raise questions about the effect on consumers, doctors and governments struggling with rising medical bills, UnitedHealth said.

While genetic exams hold great promise for better health and medical care, the Minnetonka, Minnesota-based insurer said in the report. They also pose significant challenges to a system that is increasingly unaffordable.

The paper, released to coincide with a Washington D.C. conference on gene testing, calls for cheaper, quicker methods to evaluate the quality of the technology, as well as better education for consumers about privacy protections.

The report echoed concerns from a study last week in the New England Journal of Medicine that found cancer screening may be less useful than hoped because of the wide variety of mutations found in tumors. That may explain why some oncology drugs become less effective even when targeted at specific genes, scientists from the U.K. said.

Genetic tests can be used to identify cancers, judge a persons predisposition to Alzheimers disease or gauge how well a particular medicine will work in a specific patient.

UnitedHealth, which covers 36 million people in its medical plans, spent about $500 million for genetic exams and molecular diagnostics in 2010, mostly to detect cancers and infectious diseases like HIV, todays report said.

The national figure may swell to $15 billion to $25 billion in 2021, with annual growth rates of more than 10 percent, the company said. It based the projections on internal claims and government Medicare and Medicaid data. The ultimate number depends on how popular the tests grow, how expensive they get and insurers willingness to pay, among other factors.

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Genetic Tests to Generate $25 Billion a Year, UnitedHealth Says

Newswise CHICAGO, IL March 10, 2012 -- The Genetics Society of America (GSA) and the Drosophila community of geneticists are pleased to announce the six student winners of the Victoria Finnerty Undergraduate Travel Awards, which were used by these students to attend the ongoing 53rd Annual Drosophila Research Conference in Chicago. These students, all juniors or seniors in college are:

Selma Avdagic, Saint Louis University School of Medicine, Missouri Samantha Galindo, University of WisconsinMadison Kenneth B. Hoehn, Duke University, Durham, North Carolina Emily Hsieh, University of Washington and Fred Hutchinson Cancer Research Center, Seattle Jacqueline McDermott, Hofstra University, Hempstead, New York Mohammad Siddiq, Indiana University, Bloomington

It is inspiring to see these undergraduates conducting cutting-edge research so early in their scientific careers, said Adam Fagen, Ph.D., GSA executive director. We at GSA have no doubt that the future of genetics is strong with such talented young people leading the field.

This is the first time these students have attended a professional scientific research conference where they are describing their research to doctoral students, postdoctoral fellows, and principal investigators from research laboratories all over the world. The experience, described by one student as both exciting and intimidating, is an opportunity for them to explore the field of genetics research as a possible career.

Victoria Finnerty was an outstanding scientist and a dedicated teacher and mentor who conveyed her passion for Drosophila genetics in her creative approaches toward undergraduate education and research. We view this award as an important way to encourage our young scientists to pursue research careers and become our future scientific leaders, said Elizabeth Gavis, Ph.D., president of the Drosophila Board of Directors and professor at Princeton University.

The Victoria Finnerty Undergraduate Travel Awards were established last year in memory of its namesake, who was a long-time GSA member, a dedicated undergraduate educator at Emory University for 35 years, and an active member of the Drosophila research community and the genetics community at large. The six undergraduates are the first to receive this funding to attend the annual Drosophila Research Conference.

A list of the students research projects, a brief description of each and the name of their mentor (principal investigator) of the project, is attached.

ABOUT THE GSA DROSOPHILA RESEARCH CONFERENCE: At least 1,500 researchers attend the annual GSA Drosophila Research Conference to share the latest research using the fruit fly Drosophila melanogaster and other insect species. Many of findings from these model organisms have broad application for the study of human genetic traits and diseases. For more information about the conference, see http://www.drosophila-conf.org/2012/.

ABOUT GSA: Founded in 1931, the Genetics Society of America (GSA) is the professional membership organization for scientific researchers, educators, bioengineers, bioinformaticians and others interested in the field of genetics. Its nearly 5,000 members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level. The GSA is dedicated to promoting research in genetics and to facilitating communication among geneticists worldwide through its conferences, including the biennial conference on Model Organisms to Human Biology, an interdisciplinary meeting on current and cutting edge topics in genetics research, as well as annual and biennial meetings that focus on the genetics of particular organisms, including C. elegans, Drosophila, fungi, mice, yeast, and zebrafish. GSA publishes GENETICS, a leading journal in the field and a new online, open-access publication, G3: Genes|Genomes|Genetics. For more information about GSA, please visit http://www.genetics-gsa.org. Also follow GSA on Facebook at facebook.com/GeneticsGSA and on Twitter @GeneticsGSA.

2012 Victoria Finnerty Awardees

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Undergraduate Grant Awardees Present Research at Fly Conference

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

Contact: Phyllis Edelman pedelman@genetics-gsa.org 301-351-0896 Genetics Society of America

Chicago, IL March 10, 2012 -- More than two-thirds of human genes have counterparts in the well-studied fruit fly, Drosophila melanogaster, so although it may seem that humans don't have much in common with flies, the correspondence of our genetic instructions is astonishing. In fact, there are hundreds of inherited diseases in humans that have Drosophila counterparts.

At the ongoing Genetics Society of America's 53rd Annual Drosophila Research Conference in Chicago, several scientific investigators shared their knowledge of some of these diseases, including ataxia-telangiectasia (A-T), a neurodegenerative disorder; Rett Syndrome, a neurodevelopmental disorder; and kidney stones, a common health ailment. All are the subject on ongoing research using the Drosophila model system.

Andrew Petersen, a graduate student in Dr. David Wassarman's laboratory at the University of Wisconsin-Madison, discussed his experiments with a fly model of the rare childhood disease ataxia-telangiectasia. A-T causes cell death within the brain, poor coordination, characteristic spidery blood vessels that show through the skin, and susceptibility to leukemias and lymphomas. A-T generally results in a life expectancy of only 25 years.

A-T is normally lethal in flies, but Mr. Petersen induced a mutant that develops symptoms only when the environmental temperature rises above a certain level, allowing Mr. Petersen to control the lethality by varying the fly's environment. The mutant flies lose their ability to climb up the sides of their vial habitats - a sign of neurodegeneration -- and die prematurely. Their glial cells are primarily affected, rather than the neurons that the glia support. In addition, an innate immune response is activated in the compromised glia, a scenario reminiscent of Alzheimer's and Parkinson's diseases. "We are one step closer to knowing how these diseases occur and possibly how we can treat them," Mr. Petersen concluded.

Sarah Certel, Ph.D., assistant professor of biological sciences at the University of Montana-Missoula, works with flies that have been altered to include the human gene MeCP2. This gene controls how neurons use many other genes, and the amount of the protein that it encodes must be within a specific range for the brain to develop normally. Too little of the protein and Rett syndrome results, a disorder on the X chromosome, which exclusively affects females in childhood. (Males with this mutation are generally miscarried or are stillborn.) It causes a constellation of symptoms including characteristic hand-wringing, autism, seizures, cognitive impairment, and loss of mobility. Yet too much of the protein causes similar problems.

In flies, altered levels of the MeCP2 protein affect sleep and aggression. For flies and most model organisms, sleep is inferred as the absence of activity during the day and night. To study sleep, Dr. Certel conducted "actograms" for individual flies. "The actogram records the activities of individually housed flies when they cross an infrared beam," she explained. The flies' sleep became fragmented, delayed, and shortened. "We're studying the link between the cellular changes and behaviors," she added.

Switching from the brain to the urinary system, it was noted that "Drosophila get kidney stones too" began Julian Dow, Ph.D., professor of molecular and integrative physiology at the University of Glasgow, United Kingdom. The fly version of a kidney is much simpler in design, a quartet of Malpighian tubules that are conveniently transparent.

Dr. Dow discussed a fly mutant called "rosy," discovered a century ago, that corresponds to the rare human inborn error of metabolism called xanthinuria type 1, as well as a diet-induced blockage that corresponds to the more common human condition of calcium oxalate kidney stones. In time-lapse video, Dr. Dow showed stones appearing and growing in the Malpighian tubule.

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Scientists study human diseases in flies

SILVER SPRING, Md.--(BUSINESS WIRE)--

Nuvilex, Inc. (OTCQB:NVLX), an emerging biotechnology provider of cell and gene therapy solutions, today discussed the use of the proprietary Cell-in-a-Box technology, being acquired from SG Austria, as an adjunct to chemotherapy across a spectrum of cancer treatments.

The Cell-in-a-Box technology involves the encapsulation of cytochrome P450 expressing cells which are placed beside the target tumor. When the patient is injected with the nontoxic drug ifosfamide, the encapsulated cells transform this prodrug into its active, chemotherapeutic drug. The greatest benefit of this treatment protocol is that the treatment is localized to the tumor, enhancing the chemotherapys effectiveness.

Most chemotherapy drugs affect both normal and cancerous tissue, which is why they also are toxic to naturally fast-growing cells in the body such as hair follicles and intestinal cells. Ifosfamide was one of many drugs originally used for pancreatic cancer that showed an effect against the tumor, but produced severe side effects. By using encapsulated cytochrome P450 expressing cells to convert the ifosfamide at the tumor site, the encapsulated cell treatment was able to localize the drug's effects within the tumor cells. The amount of drug needed was decreased to only one third of the original dose and the side effects were dramatically decreased.

Dr. Robert Ryan, Chief Executive Officer of Nuvilex, commented, Our cell encapsulation technology can help practitioners target the tumors while preserving the health of surrounding tissues and avoiding the often fatal side effects that accompany aggressive chemotherapy. We anticipate that by localizing treatment within the target tumors, we will finally have an effective treatment protocol for cancers that also preserves the quality of life.

About Nuvilex

Nuvilex, Inc. (OTCQB:NVLX) is an emerging international biotechnology provider of live clinically useful, therapeutically valuable, encapsulated cells as well as services for encapsulating live cells for the research and medical communities. Through substantial effort, the aspects of our corporate activities alone and in concert with SG Austria continue to move toward agreement completion and ultimately a strong future. Our companys ultimate clinical offerings will include cancer, diabetes and other treatments using the companys industry-leading cell and gene therapy expertise and cutting edge, live-cell encapsulation technology.

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995 involving risks and uncertainties. Results, events and performances could vary from those contemplated. These statements involve risks and uncertainties which may cause actual results, expressed or implied, to differ from predicted outcomes. Risks and uncertainties include product demand, market competition, and Nuvilexs ability to meet current or future plans. Investors should study and understand all risks before making an investment decision. Readers are recommended not to place undue reliance on forward-looking statements or information. Nuvilex is not obliged to publicly release revisions to any forward-looking statement, to reflect events or circumstances afterward, or to disclose unanticipated occurrences, except as required under applicable laws.

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Studies Highlight Nuvilex Cell-In-A-Box® Technology Enhances Chemotherapy Effectiveness

7:52 PM news By Sheila Anne Feeney Commuter crusader Gene Russianoff offers unexpected Rx to fix NYC

Photo credit: Photo courtesy of Gene Russianoff

Gene Russianoff, 58, the staff lawyer and public face of the New York Public Interest Research Group's Straphangers Campaign, lives with his wife, Pauline Toole, and their daughters, Jennie, 15 and Natalie, 13 in a Park Slope townhouse that they bought "seconds before it became impossible."

Q: We always ask, "what would you most like to see changed or accomplished in NYC?" You must have a great suggestion on how to improve public transportation!

A: The most important thing NYC needs is better schools. Im a parent before Im anything else and while my family has been lucky, the majority of schools are not what they should be. Schools need more resources - smaller class size, arts and music teaching and better teacher training. NYPIRG is a college-directed organization and students who can lead, create and think are the future for solving all our problems, including transit problems. It's an ugly word these days, but we may need higher taxes for this. In exchange we should be able to demand some kind of accountability.

Q: What do you think about the Albany bill that would ban eating in the subway?

A: Its not enforceable or practical. Is fried chicken not okay but Oreos from the newsstand permissible? Is there a constitutional difference between KFC and licorice? The MTA already has the arsenal it needs in the litter laws, but some responsibility rests with riders, too. If you see people littering, you should say something. We need to express community unhappiness with people who litter.

Q: How do you spend your 21-minute commute from Park Slope to City Hall on the R Train?

A: It's sacrosanct to me to read newspapers in the morning because it's the only time of day I'm not interrupted with phone calls. On the way back, I read short snippets of whatever novel I'm on in my book club. We just read "The Sense of an Ending" by Julian Barnes, which is all about how people remember themselves and how they really are, which I recommend. There's a great line in there "history is the intersection of diminished memory and faulty documentation."

Q: And how do you want history to remember you?

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Commuter crusader Gene Russianoff offers unexpected Rx to fix NYC

"We hope this study could help us at least identify those at greatest risk of disease"... Professor Paul Haber. Photo: Nic Walker

SCIENTISTS in Sydney will investigate why some heavy drinkers are more likely than others to suffer the potentially fatal long-term effects of alcohol. It will be a world-first study, as concern increases about the failure of public health campaigns to curb drinking rates.

Up to 5000 people with alcohol-induced cirrhosis of the liver will be tested to try to identify genetic triggers of the disease. The $2.5 million international study is the largest undertaken into the deadly condition.

A professor of addiction medicine at the Royal Prince Alfred Hospital, Paul Haber, said funding for cirrhosis research was ''relatively neglected''. It is hoped the study will also show why some people develop the disease despite relatively moderate alcohol consumption, Professor Haber said.

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''People are drinking more for a number of reasons, and we hope this study could help us at least identify those at greatest risk of disease,'' he said.

He compared cirrhosis to lung cancer, in that people were ''unlucky'' to develop either disease, despite the contribution of their own behaviour.

The lead researcher, Dr Devanshi Seth, said there was ''convincing evidence'' for a genetic basis predisposing some people to develop cirrhosis from all levels of alcohol consumption.

''We think there are several genes that together can work in such a way to cause liver disease, which is also influenced by diet, mental health, viral infection and gender,'' Dr Seth said.

The US National Institutes of Health is funding the study, which will include participants from six countries, including the US, Britain and France. Patients with cirrhosis will be examined alongside decade-long heavy drinkers without the disease.

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Search for genetic clues to cruel lottery of drink-induced cirrhosis

Washington, March 11 (IANS) A genetic deletion helps work up a smarter brain by not only growing more brain cells during ageing but also making anti-depressants more effective in lower doses, a study reveals.

Deleting the Nf1 gene in mice improves neurogenesis (the process by which brain cells are generated), which in turn makes those in the test group more sensitive to the effects of anti-depressants.

"The significant implication of this work is that enhancing neurogenesis sensitizes mice to anti-depressants -- meaning they needed lower doses of the drugs to affect 'mood,'" said Luis Parada, from the University of Texas Southwestern Medical Centre.

It also appears to have anti-depressive and anti-anxiety effects of its own that continue over time, added Parada, director of the Kent Waldrep Centre for Basic Research on Nerve Growth and Regeneration and senior study author, The Journal of Neuroscience reported.

Just as in people, mice produce new neurons throughout adulthood, although the rate declines with age and stress, said Parada, according to a university statement.

Studies have shown that learning, exercise, shock therapy and some anti-depressants can increase neurogenesis. The steps in the process are well known but the cellular mechanisms behind those steps are not.

The researchers used a sophisticated process to delete the gene that codes for the Nf1 protein only in the brains of mice, while production in other tissues continued normally.

Researchers found that the test group mice formed more neurons over time compared to others, and that young mice lacking the Nf1 protein required much lower amounts of anti-depressants to counteract stress.

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Delating a gene works up smarter brain

London, March 11 (ANI): Scientists have discovered a gene that triggers plants to become dormant at night and controls flowering.

Computer models of cress plants genes showed how 12 genes work together to set plants' internal clocks, according to University of Edinburgh researchers.

They found that a protein, known as TOC1, previously associated with helping plants to wake up, dampened down gene activity at night.

Professor Andrew Millar said "it was a big change in thinking".

Plants, animals and even bacteria go through a daily 24-hour routine, known as a circadian rhythm, which allow them to make tiny adjustments as daylight changes, and adapt to changing seasons.

"Just like humans you should think about plants having rhythms," said Prof Millar.

"Having a biological clock is particularly important for plants to prepare for daylight and at night-time [to] store energy for growth.

"We now understand how the dozen or so genes work and are typical to particular times of the day," Prof Millar stated.

The Edinburgh-led study was published in Molecular Systems Biology.

Prof Millar said the results would help further research into the flowering of other plants - particularly crops such as wheat, barley and rice.

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Gene that controls flowering in plants identified

DIAMOND BAR - Is it appropriate to use emerging synthetic genomic engineering technology to build new forms of "life"? Should genetic engineering techniques and processes be used in agriculture?

These were some of the issues debated by Brahma Tech students at Diamond Bar High last week. The great debate was part of a week of competition for the Technology Student Association.

The Brahmas recently became the first high school in California to join the national organization, according to technology teacher Alina Gallardo.

More than 150,000 middle and high school students throughout America belong to the association. Members learn about technology through competitions, events and conferences.

Sophomore Alice Jin spearheaded the effort to join the Technology Student Association.

"I found out about it on the Internet, then talked to my classmates about forming a local chapter," the 16-year-old explained.

Diamond Bar has more than 400 students in the Brahma Tech Academy. The academy is a specialized math, science and technology program with four career paths.

"Students also have to do 150-hour internships with high-tech companies," Gallardo explained.

It attracts students like 17-year-old Drew Liu. "I want to major in bioengineering in college," the senior said.

Liu was one of the group of students competing in technology week. Earlier, the techies made videos. Participants had to write, shoot and edit

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Students at Diamond Bar's Brahma Tech debate genomic engineering ethics

To: HEALTH, MEDICAL AND NATIONAL EDITORS

MANHASSET, N.Y., March 9, 2012 /PRNewswire-USNewswire/ -- A collaborative group of investigators has joined together to identify five genetic variations associated with Crohn's disease (CD) and Jewish individuals of Eastern and Central European decent, who are also known as Ashkenazi Jews. These findings were published in the March issue of PLoS Genetics.

CD causes inflammation of the lining of the digestive tract and can be both painful and debilitating, and sometimes may lead to life-threatening complications. CD is two-to-four times more prevalent among individuals of Ashkenazi Jewish decent compared to non-Jewish Europeans. The study conducted at multiple institutions across the world, including the Feinstein Institute for Medical Research, was an important step toward understanding the genetic reasons for this higher prevalence.

"This large collaborative study made it possible to define more precisely the genetic contributions to Crohn's disease that are enriched in the Ashkenazi Jewish population, which has carried a higher risk for this disorder," said Peter K. Gregersen, head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute. "The study identified genetic regions that hadn't been discovered before, and if additional studies of these regions are conducted there is a chance that biological pathways affecting susceptibility to Crohn's disease could be found and novel treatments could be developed."

About Crohn's Disease (CD)

CD causes inflammation of the lining of the digestive tract, which can lead to abdominal pain, severe diarrhea and malnutrition. CD can be both painful and debilitating, and sometimes may lead to life-threatening complications. There currently is no cure for CD, but available therapies can greatly reduce the signs and symptoms of CD.

About the Study

About The Feinstein Institute for Medical Research

SOURCE The Feinstein Institute for Medical Research

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Researchers Discover Five Genetic Variations Associated with Crohn's Disease in Ashkenazi Jews

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Research sheds new light on human evolution and will help with gorilla conservation

By Summit Voice

SUMMIT COUNTY For the first time, scientists have been able to compare the genomes of all four living great apes humans, chimpanzees, gorillas and orang-utans after completing the genome sequence for the gorilla the last genus of the living great apes to have its genome decoded.

Researchers announced the completion of the genome process last week, confirming that chimpanzee are our closest living relatives, but they also said that much of the human genome more closely resembles the gorilla than it does the chimpanzee genome.

The gorilla genome is important because it sheds light on the time when our ancestors diverged from our closest evolutionary cousins, said Aylwyn Scally, of the Wellcome Trust Sanger Institute. It also lets us explore the similarities and differences between our genes and those of gorilla, the largest living primate, said Scally, lead author of the paper that announced the findings.

Using DNA from Kamilah, a female western lowland gorilla, we assembled a gorilla genome sequence and compared it with the genomes of the other great apes. We also sampled DNA sequences from other gorillas in order to explore genetic differences between gorilla species.

The study provides a unique perspective on human origins and is an important resource for research into human evolution and biology, as well as for gorilla biology and conservation.

The team searched more than 11,000 genes in human, chimpanzee and gorilla for genetic changes important in evolution. Humans and chimpanzees are genetically closest to each other over most of the genome, but the team found many places where this is not the case. 15 percent of the human genome is closer to the gorilla genome than it is to chimpanzee, and 15 percent of the chimpanzee genome is closer to the gorilla than human.

In all three species, genes relating to sensory perception, hearing and brain development showed accelerated evolution and particularly so in humans and gorillas.

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Genetics: Scientists finish mapping gorilla genome

MOUNTAIN VIEW, CALIF. In Silicon Valley, the line between computing and biology has begun to blur in a way that could have enormous consequences for human longevity.

Bill Banyai, an optical physicist at Complete Genomics, has helped make that happen. When he began developing a gene sequencing machine, he relied heavily on his background at two computer networking startup companies. His digital expertise was essential in designing a factory that automated and greatly lowered the cost of mapping the three billion base pairs that form the human genome.

The promise is that low-cost gene sequencing will lead to a new era of personalized medicine, yielding new approaches for treating cancers and other serious diseases. The arrival of such cures has been glacial, however, although the human genome was originally sequenced more than a decade ago.

Now that is changing, in large part because of the same semiconductor industry manufacturing trends that opened up consumer devices such as the PC and the smartphone: exponential increases in processing power and transistor density are accompanied by costs that fall at an accelerating rate.

As a result, both new understanding and new medicines will arrive at a quickening pace, according to the biologists and computer scientists.

For all of human history, humans have not had the readout of the software that makes them alive, said Larry Smarr, director of the California Institute of Telecommunications and Information Technology, a research centre that is jointly operated by the University of California, San Diego, and the University of California, Irvine.

Once you make the transition from a data poor to data rich environment, everything changes, said Smarr, who is a member of the Complete Genomics scientific advisory board.

Complete Genomics, based in Mountain View, is one of more than three dozen firms hastening to push the cost of sequencing an entire human genome below $1,000. The challenge is part biology, part chemistry, part computing, and in Complete Genomics case, part computer networking.

Complete Genomics is a classic Silicon Valley startup story. Even the gene sequencing machines, which are housed in a 4,000-square-foot room bathed in an eerie blue light, appear more like a traditional data centre than a biology lab.

In 2005, when Clifford Reid, a successful Silicon Valley software entrepreneur, began to assemble his team, he approached Banyai and asked if he was interested in joining a gene sequencing startup. Reid, who was also trained in physics and math, had spent a year as an entrepreneur-in-residence at the Massachusetts Institute of Technology, where he had become a convert to bioinformatics, the application of computer science and information technologies to biology and medicine.

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Gene sequencing falls to $5,000

(CNN) -

A Florida cardiologist could have his medical license revoked by state authorities who have accused him of performing illegal stem cell therapy on a patient who died during the procedure.

Florida's Department of Health ordered the emergency suspension of Zannos Grekos' medical license Wednesday, accusing the Bonita Springs doctor of violating an emergency order against using stem cell treatments in Florida and causing the death of an unidentified elderly patient. Grekos can appeal the order.

According to the license suspension order, Grekos performed a stem cell treatment this month on the patient, who was suffering from pulmonary hypertension and pulmonary fibrosis. Both diseases restrict blood flow to the heart.

"During said stem cell treatment, patient R.P. suffered a cardiac arrest and died," the suspension order said.

CNN first investigated Grekos' activities in 2009, when he said he was using stem cell therapy for a company called Regenocyte Therapeutic. His profile, listed on the company's website, describes Grekos as having "extensive experience in the field of stem cell therapy" and says he "was recently appointed to the Science Advisory Board of the United States' Repair Stem Cell Institute."

At the time of CNN's interview, Grekos said he extracted stem cells from patients and then sent the blood to Israel for laboratory processing. That processing, he said, resulted in "regenocytes," which he said would help heal crippling diseases, mostly associated with lung problems.

The president of the International Society of Stem Cell Research, Dr. Irving Weissman, told CNN at the time that "there is no such cell."

"There is nothing called a regenocyte," he said.

After CNN's initial report, Grekos said the name was "advertising" and was not intended to be scientific.

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Patient dies during procedure

(CNN) -

A Florida cardiologist could have his medical license revoked by state authorities who have accused him of performing illegal stem cell therapy on a patient who died during the procedure.

Florida's Department of Health ordered the emergency suspension of Zannos Grekos' medical license Wednesday, accusing the Bonita Springs doctor of violating an emergency order against using stem cell treatments in Florida and causing the death of an unidentified elderly patient. Grekos can appeal the order.

According to the license suspension order, Grekos performed a stem cell treatment this month on the patient, who was suffering from pulmonary hypertension and pulmonary fibrosis. Both diseases restrict blood flow to the heart.

"During said stem cell treatment, patient R.P. suffered a cardiac arrest and died," the suspension order said.

CNN first investigated Grekos' activities in 2009, when he said he was using stem cell therapy for a company called Regenocyte Therapeutic. His profile, listed on the company's website, describes Grekos as having "extensive experience in the field of stem cell therapy" and says he "was recently appointed to the Science Advisory Board of the United States' Repair Stem Cell Institute."

At the time of CNN's interview, Grekos said he extracted stem cells from patients and then sent the blood to Israel for laboratory processing. That processing, he said, resulted in "regenocytes," which he said would help heal crippling diseases, mostly associated with lung problems.

The president of the International Society of Stem Cell Research, Dr. Irving Weissman, told CNN at the time that "there is no such cell."

"There is nothing called a regenocyte," he said.

After CNN's initial report, Grekos said the name was "advertising" and was not intended to be scientific.

The rest is here:
Doctor accused of illegal stem cell therapy suspended

FRIDAY, March 9 (HealthDay News) -- The first gene linked to an often painful neck disorder has been identified by researchers.

Adult-onset primary cervical dystonia, which is characterized by involuntary twisting of the neck, occurs in about 30 of every 100,000 people, previous research has reported.

In this new study, researchers conducted a genetic analysis of a patient with the condition, his identical twin whose neck also twisted and family members, some of whom also had the disorder. The investigators pinpointed a mutation in the CIZ1 gene, which produces a protein expressed in certain nerve cells in the brain and appears to be involved in cell cycle activities.

However, the researchers did not identify the cellular mechanism associated with cervical dystonia.

The study findings were released online in advance of publication in an upcoming print issue of the Annals of Neurology.

While the researchers believe that CIZ1 is one genetic cause of the disorder, it's likely that other genes linked to cervical dystonia will be found, according to Dr. Ryan Uitti, a neurologist at the Mayo Clinic in Jacksonville, Fla.

There are a number of treatments for cervical dystonia. The most common is botulinum toxin injections, which incapacitate the nerve in the affected muscle and eliminate chronic pain and muscle pulling/contraction.

But some people with the condition don't realize that it is unusual and that they should seek medical help, Uitti noted.

"They think they slept wrong at some point, or, because the twisting might straighten out with another maneuver, such as walking backwards, they might actually [not be taken seriously]," Uitti said in a Mayo Clinic news release.

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Researchers ID Gene for Neck Disorder

Psoriasis affects up to 7.5 million Americans, making it the most prevalent autoimmune disease in the country, according to the National Psoriasis Foundation.

An autoimmune disease means the immune system is functioning abnormally by attacking the body it is normallymeant to protect. In the case of psoriasis, the immune system dysfunction affects skin cell growth, resulting in chronic, visible inflammation. Psoriasis is a non-contagious diseasethat typically first occurs between the ages of 15 and 35.

Here is a guide to understanding psoriasis:

Overview The human body is constantly losing and replacing skin cells. Newly produced cells grow at the bottom layer of the skin, and they take around one month to develop and rise to the skins surface. Theabnormally aggravated immune system causes this skin production to enter overdrive, and skin cells are produced and move to the surface in one to two weeks. This excess skin begins to accumulate, forming the visible scales and inflammation that characterize psoriasis.

Types There are various types of psoriasis, distinguished by their visible characteristics. While usually only one type will appear at a time, an individual with psoriasis candevelop another form if triggered. Plaque psoriasis accounts for most cases of the disease. It is markedby raised, inflamed lesions with silver-white patches called scales, generally found on the elbows, knees, scalp and lower back. Guttate psoriasis occurs as red spots on the skin, appearing on the trunk and limbs, and they are usually thinner thanplaque lesions. Inverse psoriasisappears on skin foldsaround the armpits, groin, breasts, genitals and buttocks. It shows up as bright-red lesions that are smooth and shiny instead of scaly. Pustular psoriasis appears as pus-filled white blisters that are non-infectious. Erythodermic psoriasis results insevere inflammation that causes the skin toappear widely red. It is particularly dangerous and should be addressed immediately, as a flare-up could result in protein and fluid loss.

Symptoms Psoriasis is characterized by skin lesions and inflammation. Additional symptoms can include genital lesions in males, arthritis, nail damage or severe dandruff. The presence of psoriasis also makes an individual more susceptible to other serious disorders. Many people with psoriasis also have psoriatic arthritis, marked by jointpain and swelling.Other chronic conditions that can occur with psoriasis include cardiovascular disease, certain types of cancer and depression.An individual with psoriasis should work continuouslywith a health care professional to prevent these illnesses from developing.

Cause Psoriasis is believed to be the result of genetic and non-genetic factors. The National Psoriasis Foundation reports that a child with one parent with psoriasis has a 10 percent chance of inheriting the disease. This number jumps if both parents have the disease, resulting in a 50 percent chance of being diagnosed.Because not everyonewith the genesfor psoriasis develops it, researchers believe triggers act ascatalysts for the disease. Some medications may trigger psoriasis. This is particularly true of lithium, which is primarily used to treat psychiatric disorders. Psoriasis triggers are different for everyone, but common causes include stress or skin injuryan effect known as the Koebner phenomenon.

Treatment Treatment will depend on the severity of the psoriasis.Different therapies may includetopical treatments, light therapyandmedication. Topical treatments are applied directly to the skin just like a lotion. These ointmentscan help slow down cell growth as well as alleviate itchiness or inflammation. Light therapy, also calledphototherapy, involves a prescribed and controlled regimen of exposing the skin to ultraviolet rays. When topical treatments and phototherapy are inadequate, health care professionals may prescribe medication to help control skin cell growth.

Continued here:
Psoriasis caused by genetics, external triggers

Over at the Texas A&M Reproductive Sciences Complex, you'll find several animals with unique capabilities.

Goat number 21 is one of those creatures.

"This project is one of the most interesting that we've been involved with because it has so much potential world wide," said Texas A&M researcher Charles Long.

Long & fellow A&M researcher Mark Westhusin keep a careful eye on goat number 21 because her milk holds a vaccine for malaria.

"There are lots of different things that one can think about producing in the milk. Malaria vaccine is one that's really important because there's a big demand for it in a lot of impoverished countries," said Westhusin.

Through genetic engineering, this goat could be the golden goose when it comes to preventing malaria in third world countries. A disease that kills a child in Africa every minute according to the World Health Organization.

"What you'd have is an animal that could be in any village around the world and all natives would have to do is drink some of that milk and be immunized against malaria," said Long.

But before any of that happens, this goat has to jump through a lot of hoops.

"We'd love to start air dropping goats into Africa but the reality is we're not going to be able to achieve that objective for another five or 10 years at least," joked Long.

"What we have to do is milk the goat, purify the protein, then we'd have to do all kinds of clinical testing and safety testing. Just like as if we were to take any drug and go to market with it," said Westhusin.

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Texas A&M Researchers Create Goat With Malaria Vaccine In Her Milk

ScienceDaily (Mar. 8, 2012) UT Southwestern Medical Center investigators have identified a genetic manipulation that increases the development of neurons in the brain during aging and enhances the effect of antidepressant drugs.

The research finds that deleting the Nf1 gene in mice results in long-lasting improvements in neurogenesis, which in turn makes those in the test group more sensitive to the effects of antidepressants.

"The significant implication of this work is that enhancing neurogenesis sensitizes mice to antidepressants -- meaning they needed lower doses of the drugs to affect 'mood' -- and also appears to have anti-depressive and anti-anxiety effects of its own that continue over time," said Dr. Luis Parada, director of the Kent Waldrep Center for Basic Research on Nerve Growth and Regeneration and senior author of the study published in The Journal of Neuroscience.

Just as in people, mice produce new neurons throughout adulthood, although the rate declines with age and stress, said Dr. Parada, chairman of developmental biology at UT Southwestern. Studies have shown that learning, exercise, electroconvulsive therapy and some antidepressants can increase neurogenesis. The steps in the process are well known but the cellular mechanisms behind those steps are not.

"In neurogenesis, stem cells in the brain's hippocampus give rise to neuronal precursor cells that eventually become young neurons, which continue on to become full-fledged neurons that integrate into the brain's synapses," said Dr. Parada, an elected member of the National Academy of Sciences, its Institute of Medicine, and the American Academy of Arts and Sciences.

The researchers used a sophisticated process to delete the gene that codes for the Nf1 protein only in the brains of mice, while production in other tissues continued normally. After showing that mice lacking Nf1 protein in the brain had greater neurogenesis than controls, the researchers administered behavioral tests designed to mimic situations that would spark a subdued mood or anxiety, such as observing grooming behavior in response to a small splash of sugar water.

The researchers found that the test group mice formed more neurons over time compared to controls, and that young mice lacking the Nf1 protein required much lower amounts of anti-depressants to counteract the effects of stress. Behavioral differences between the groups persisted at three months, six months and nine months. "Older mice lacking the protein responded as if they had been taking antidepressants all their lives," said Dr. Parada.

"In summary, this work suggests that activating neural precursor cells could directly improve depression- and anxiety-like behaviors, and it provides a proof-of-principle regarding the feasibility of regulating behavior via direct manipulation of adult neurogenesis," Dr. Parada said.

Dr. Parada's laboratory has published a series of studies that link the Nf1 gene -- best known for mutations that cause tumors to grow around nerves -- to wide-ranging effects in several major tissues. For instance, in one study researchers identified ways that the body's immune system promotes the growth of tumors, and in another study, they described how loss of the Nf1 protein in the circulatory system leads to hypertension and congenital heart disease.

The current study's lead author is former graduate student Dr. Yun Li, now a postdoctoral researcher at the Massachusetts Institute of Technology. Other co-authors include Yanjiao Li, a research associate of developmental biology, Dr. Rene McKay, assistant professor of developmental biology, both of UT Southwestern, and Dr. Dieter Riethmacher of the University of Southampton in the United Kingdom.

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Genetic manipulation boosts growth of brain cells linked to learning, enhances effects of antidepressants

Public release date: 8-Mar-2012 [ | E-mail | Share ]

Contact: Emily Ng eng3@nshs.edu 516-562-2670 North Shore-Long Island Jewish (LIJ) Health System

MANHASSET, NY A collaborative group of investigators has joined together to identify five genetic variations associated with Crohn's disease (CD) and Jewish individuals of Eastern and Central European decent, who are also known as Ashkenazi Jews. These findings were published in the March issue of PLoS Genetics.

CD causes inflammation of the lining of the digestive tract and can be both painful and debilitating, and sometimes may lead to life-threatening complications. CD is two-to-four times more prevalent among individuals of Ashkenazi Jewish decent compared to non-Jewish Europeans. The study conducted at multiple institutions across the world, including the Feinstein Institute for Medical Research, was an important step toward understanding the genetic reasons for this higher prevalence.

"This large collaborative study made it possible to define more precisely the genetic contributions to Crohn's disease that are enriched in the Ashkenazi Jewish population, which has carried a higher risk for this disorder." said Peter K. Gregersen, head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute. "The study identified genetic regions that hadn't been discovered before, and if additional studies of these regions are conducted there is a chance that biological pathways affecting susceptibility to Crohn's disease could be found and novel treatments could be developed."

About Crohn's Disease (CD)

Crohn's disease (CD) is an inflammatory bowel disease (IBD), which is one of the five most prevalent gastrointestinal disease burdens in the United States, with an overall health care cost of more than $1.7 billion. Each year in the United States, IBD accounts for more than 700,000 physician visits, 100,000 hospitalizations, and disability in 119,000 patients. CD is two-to-four times more prevalent among individuals of Ashkenazi Jewish decent compared to non-Jewish Europeans.

CD causes inflammation of the lining of the digestive tract, which can lead to abdominal pain, severe diarrhea and malnutrition. CD can be both painful and debilitating, and sometimes may lead to life-threatening complications. There currently is no cure for CD, but available therapies can greatly reduce the signs and symptoms of CD.

About the Study

Seventy-one genetic variants had already been identified in patients who had Crohn's disease (CD) and were of European decent. A collaborative group of investigators, including some from the Feinstein Institute for Medical Research, led by Inga Peter at Mt Sinai School of Medicine took a step further and conducted a genome-wide association study (GWAS) aimed at exploring genetic variation associated with CD in Jewish individuals of Eastern and Central European decent (Ashkenazi Jews). The study was conducted by combining raw genotype data across 10 Ashkenazi Jew cohorts consisting of 907 cases and 2,345 controls in the discovery stage followed up by a replication study in 971 cases and 2,124 controls. The study confirmed 12 of the known variants and identified five novel genetic varation regions not previously found. These five novel genetic regions were mapped to chromosomes 5q21.1, 2p15, 8q21.1, 10q26.3, and 11q12.1.

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Researchers discover 5 genetic variations associated with Crohn's disease in Ashkenazi Jews

Patients are holding out hope that someday soon, they hope physicians will be able to personalize medical treatment more precisely than theyve been able to in the past. For people with cancer, this might mean taking a quick biopsy, studying the genetic profile of a tumor and then tailoring interventions to target the cancer effectively, with as few side effects as possible.

But a study published in the New England Journal of Medicine on Wednesday underscores why the vision remains a challenge. Cancer researchers in England showed that individual kidney tumors and their metastases had different mutations in different locations and that those mutations, in turn, affect the biology of those tumors in varying ways in different locations.

A single tumor-biopsy-specimen reveals a minority of genetic aberrations that are present in an entire tumor, wrote Dr. Marco Gerlinger of the Cancer Research UK London Research Institute and co-authors.

For example, the scientists found that one region of a renal carcinoma could display gene expression signatures associated with a good prognosis, while signatures in another region of the same tumor could be associated with a poor prognosis.

The basic insight that a single cancer can contain a number of mutations isnt entirely new, but the teams genetic analysis helps demonstrate why it probably wont be possible to devise targeted, patient-specific treatment strategies by looking at minimally invasive biopsies collected from a single site, wrote Dr. Dan Longo of the National Institute on Aging in an editorial accompanying the study.

A new world has been anticipated in which patients will undergo a needle biopsy of a tumor in the outpatient clinic, and a little while later, an active treatment will be devised for each patient on the basis of the distinctive genetic characteristics of the tumor, he wrote. But a serious flaw in the imagined future of oncology is its underestimation of tumor heterogeneity.

The Los Angeles Times has reported on tumor genetics in the past. In April 2011, writer Amber Dance described efforts to catalog the mutations that cause cancer. Earlier that year, Thomas H. Maugh II explained how researchers sequenced the genomes of prostate cancers in seven different men.

More:
Personalized cancer treatment: Genetic differences abound in tumors

By David Fitzpatrick and Drew Griffin, Special Investigations Unit

updated 1:34 PM EST, Thu March 8, 2012

Dr. Zannos Grekos, seen here in 2009, could have his license suspended.

STORY HIGHLIGHTS

(CNN) -- A Florida cardiologist could have his medical license revoked by state authorities who have accused him of performing illegal stem cell therapy treatment on an elderly patient who died during the procedure.

Florida's Department of Health ordered the emergency suspension of Dr. Zannos Grekos' medical license Wednesday, accusing the Bonita Springs doctor of violating an emergency order against using stem cell treatments in Florida and allegedly causing the death of an unnamed elderly patient. Grekos can appeal the order.

According to the license suspension order, Grekos performed a stem cell treatment earlier this month on the patient, who was suffering from pulmonary hypertension and pulmonary fibrosis. Both diseases restrict blood flow to the heart.

"During said stem cell treatment, patient R.P. suffered a cardiac arrest and died," the suspension order said.

CNN first investigated Grekos's activities in 2009 and, at that time, he said he was using stem cell therapy for a company he called Regenocyte Therapeutic. His profile, listed on the company's website, describes Grekos as having "extensive experience in the field of stem cell therapy" and says he "was recently appointed to the Science Advisory Board of the United States' Repair Stem Cell Institute."

At the time of CNN's interview, Grekos said he extracted stem cells from patients and then sent the blood to Israel for laboratory processing. That processing, he said, resulted in "regenocytes," which he claimed would help heal crippling diseases, mostly associated with lung problems.

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Florida suspends doctor accused of illegal stem cell therapy

Public release date: 8-Mar-2012 [ | E-mail | Share ]

Contact: Catriona Kelly Catriona.Kelly@ed.ac.uk 44-131-651-4401 University of Edinburgh

Scientists have made fresh discoveries about the processes that govern plants' internal body clocks and help them adjust to changing seasons, triggering the arrival of flowers in spring.

Researchers tested computer models of gene networks in a simple cress plant to determine the role played by a protein, known as TOC1, in governing these daily cycles. The model shows how 12 genes work together to run the plant's complex clockwork, and reset the clock at dawn and dusk each day.

Researchers found that the TOC1 protein, which was previously associated with helping plants to wake up, is in fact involved in dampening gene activity in the evening, helping them stay dormant at night.

The findings, from the University of Edinburgh, contradict what scientists had previously understood about the gene and its role in early morning activity. Scientists in Barcelona independently reached a similar conclusion to the Edinburgh team. The two studies pave the way for further research to define how the cycles improve plant growth and allow plants to adapt to our changing environment.

These internal 24-hour cycles known as circadian clocks also allow people, animals and plants to make tiny adjustments as daylight changes, and adapt to changing seasons. Researchers hope their discovery will bring them a step closer to understanding other seasonal rhythms that affect plants and people including the flowering of staple crops such as wheat, barley and rice, and the breeding patterns of animals.

The Edinburgh-led study, published in Molecular Systems Biology, was funded by the European Commission, Biotechnology and Biological Sciences Research Council and the Engineering and Physical Sciences Research Council. The Barcelona-led study, published in Science, was funded by the European Commission, the Ramn Areces Foundation, and the Spanish Ministry of Science and Innovation.

Professor Andrew Millar, of the University of Edinburgh's School of Biological Sciences, who led the modelling study, said: "The 24-hour rhythms of biological clocks affect all living things including plants, animals and people, with wide-ranging effects on sleep, metabolism and immunity. We are now far better placed to understand how this complex process impacts on the plant's life and what happens when the rhythms are interrupted, for example by climate change."

Professor Paloma Mas, of the Centre for Research in Agricultural Genomics in Spain, who led the experimental study, said: "The biological clock controls essential processes in plant growth and development, such as flowering and the control of growth by light. We can now extend the knowledge we have gained of cyclic processes to the major crops and other plants of agronomic interest."

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Clock gene helps plants prepare for spring flowering, study shows

BOSTON Scientists are reporting what could be very bad news for efforts to customize cancer treatment based on each persons genes.

They have discovered big differences from place to place in the same tumour as to which genes are active or mutated. They also found differences in the genetics of the main tumour and places where the cancer has spread.

This means that the single biopsies that doctors rely on to choose drugs are probably not giving a true view of the cancers biology. It also means that treating cancer wont be as simple as many had hoped.

By analyzing tumours in unprecedented detail, were finding that the deeper you go, the more you find, said one study leader, Dr. Charles Swanton of the Cancer Research U.K. London Research Institute in England. Its like going from a black-and-white television with four pixels to a colour television with thousands of pixels.

Yet the result is a fuzzier picture of how to treat the disease.

The study is reported in Thursdays New England Journal of Medicine.

It is a reality check for over-optimism in the field devoted to conquering cancer with new gene-targeting drugs, Dr. Dan Longo, a deputy editor at the journal, wrote in an editorial.

About 15 of these medicines are on the market now in the U.S. and hundreds more are in testing, but they have had only limited success. And the new study may help explain why.

The scientists used gene sequencing to a degree that has not been done before to study primary tumours and places where they spread in four patients with advanced kidney cancer. They found that two-thirds of gene mutations they detected were not present in all areas of the same tumour. They also were stunned to see different mutations in the same gene from one part of a tumour to another.

That means a single biopsy would reveal only a minority of mutations. Still, its not clear whether doing more biopsies would improve accuracy, or how many or how often they should be done.

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Single gene may not determine tumour’s nature