04-07-2012 07:50 Conference by Fyodor Kondrashov, ICREA Research Professor, leader of the laboratory Evolutionary Genomics, within the Bioinformatics & Genomics research programme, at the Centre for Genomic Regulation, in Barcelona, Spain. In this talk he discusses the work that his lab does and the role of bioinformatics in the study of disease-causing mutations in humans. The study of the genome through sequencing produces an enormous quantity of data. This data is analysed by bioinformatics researchers dedicated to the management and analysis of all of the information obtained when a genome is sequenced via, for example, mathematical, biological, computer and statistical tools. Personalised medicine is based on the premise that if a disease is caused by a mutation of a patient's genome, this mutation will always produce the same effect in another person: the effect is stable and constant, independently of whom the individual might be. However, recent research suggests that this effect may depend on the combination with other mutations. In some cases, it can be demonstrated that two "bad" mutations could combine to produce a perfectly healthy person, meaning that in the world of genetics, two "negatives" sometimes make a "positive". It is also likely that some mutations which cause disease may be benign if combined with other genetic changes, although this phenomenon has not yet been observed in humans. This is discouraging for personalised medicine, as the study of mutation interaction ...

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Genome complexity and medicine: illness prediction gets complicated - Video

V. Rajendran and Sujatha have a six-year-old boy, Raghu, who has been diagnosed with LSD (Lysosomal Storage Disorder) and requires medicines costing Rs. 98,000 per dose.

He needs two doses every month. Raghus older sister does not share his genetic problem or understand the seriousness of the situation as she plays with her brother.

We realised his growth was abnormal when he was 18 months old, Mr. Rajendran said. Diagnosis of the disease was the easier part. If the dose is not administered on time, he suffers from swelling of liver and spleen, he said.

Like Raghu, there are 150 children in the State and while some of them need expensive medicines to manage their condition, others need correctional surgeries.

LSD is a group of 45 different genetic diseases, caused by lack of secretion of certain enzymes in the body.

K. Divya (16), a class XI student, looks like a two-year-old. There are no medicines to treat her, however. Her appearance on a television show helped her get admission in school, said her father J. Karunakaran, who also spearheaded a movement called the LSD Support Society to bring together such children and their parents. Divya scored 92 per cent in the class X board exams.

Worldwide, there are around 10,000 children who can live a near normal life if medicine is made available to them, said geneticist Sujatha Jagadeesh of MediScan, a Chennai-based centre which deals with identification and diagnosis of genetic diseases.

Elsewhere, medicines are provided free of cost. We could at least ensure medicines are provided for those conditions that can be managed with drugs, she said.

There are some laboratories that conduct the basic tests but confirmatory diagnosis is done by sending urine and blood samples to Taiwan. A family requiring such tests must pay Rs. 20,000.

Chief medical director of MediScan S. Suresh said there are medicines for six of the diseases under the LSD umbrella but none of the children can afford it.

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Children with genetic disorder write to Chief Minister for help

Nanostructure Created Can Potentially Shut Down Disease Causing Agents

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Gene Altering Lotion May Treat Skin Diseases

Imagine a lotion that can treat irreversible genetic skin diseases like psoriasis or life-threatening skin cancers like melanoma. Researchers at Northwestern University say they're another step closer to creating a treatment that will naturally slip through the skin and genetically alter cells to treat a particular skin disease.

Using creams and lotions to target a particular problem area is seen as a great advantage among many dermatologists in treating a localized skin problem.

"We like to treat skin diseases with topical creams so that we avoid side effects from treatments taken by mouth or injected," said Dr. Amy Paller, chair of dermatology and professor of pediatrics at Northwestern University Feinberg School of Medicine.

But the difficulty among researchers has been creating a gene-altering topical agent that can successfully penetrate the skin to specifically treat genetic skin diseases.

"The problem is that our skin is a formidable barrier," Paller said. "Genetic material can't get through the skin through regular means."

Using nanotechnology, the researchers packaged gene-altering structures on top of tiny particles of gold designed to target epidermal growth factor receptor, a genetic marker associated with many types of skin cancers. The structure is designed to sneak through the skin and latch onto targets underneath without eliciting an immune response.

The researchers mixed the structure into the ointment Aquaphor, which is commonly used among many patients who have dry skin or irritation.

The researchers then rubbed the ointment onto the mice and onto human skin tissue and saw the gene-altering structure in the lotion successfully penetrated the skin and was able to shut down the potentially cancer-causing protein, according to the findings published Monday in the journal Proceedings of the National Academy of Sciences.

The preliminary study is regarded as the first to deliver topical gene therapy effectively with no toxic effects.

Topical steroids are the most commonly used cream-based treatment for skin problems such as psoriasis. While they can treat inflammation or other effects of a skin disease, they do not treat the underlying mechanism that's causing the problem, Paller said. And in cases like melanoma, the diseased cells are often surgically removed from the skin, leaving scarring.

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Lotion May Treat Skin Diseases

Editor's Choice Main Category: Smoking / Quit Smoking Also Included In: Immune System / Vaccines Article Date: 02 Jul 2012 - 11:00 PDT

Current ratings for: Vaccine For Blocking Nicotine Chemicals Before They Reach The Brain Shows Promise

The study, published in the journal Science Translational Medicine describes that a single dose of the novel vaccine protects mice against a life-long addiction against nicotine.

The vaccine uses the animal's liver as a production site to continuously produce antibodies that instantly gobble up nicotine the moment it enters the bloodstream, and therefore prevents the chemical from reaching the brain and heart.

Leading researcher, Dr. Ronald G. Crystal, chairman and professor of Genetic Medicine at Weill Cornell Medical College explains:

He continues saying: "Our vaccine allows the body to make its own monoclonal antibodies against nicotine, and in that way, develop a workable immunity."

Dr. Crystal stated that the reason why earlier nicotine vaccines failed in clinical trials was because they all directly deliver nicotine antibodies. Their effect only lasted a few weeks and therefore required repeated, costly injections. He adds that this impractical, passive vaccine also delivered inconsistent results, which could potentially be because each person may require a different dose, particularly if the person starts to smoke again.

Crystal says:

He adds that evidence has shown that 70 to 80% of smokers who try to quit pick up the habit again within six months.

Around 20% of American adults smoke, and what keeps smokers addicted is the nicotine in the tobacco, and not the 4,000 chemicals in the burning cigarette that cause smoking-related health problems and which lead to one in every five deaths in the U.S.

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Vaccine For Blocking Nicotine Chemicals Before They Reach The Brain Shows Promise

Public release date: 2-Jul-2012 [ | E-mail | Share ]

Contact: Christine Bauquis christine@eshre.eu 32-499-258-046 European Society of Human Reproduction and Embryology

Istanbul, 2 July 2012: Preimplantation genetic diagnosis (PGD) for the breast cancer genes BRCA1/2 is now feasible and established, with good success rates for those treated, according to investigators from the reproduction, oncology and genetics centres of the university hospitals of Maastricht and Brussels. The results follow a review of the largest number of PGD treatments for BRCA1/2 in Europe and were presented today at the annual meeting of ESHRE (European Society of Human Reproduction and Embryology) by Professor Willem Verpoest from the Centre for Reproductive Medicine at Vrije Universiteit Brussel, Belgium.

Behind his vote of confidence lie 145 PGD cycles for BRCA1/2 mutations performed in 70 couples at the two centres (a mean of 2.1 cycles per woman). Almost 60% of the mutation carriers were female, two-thirds with a BRCA1 mutation. Just over one quarter (26.2%) of female carriers had undergone a prophylactic bilateral mastectomy.

Following IVF, 717 embryos were found suitable for genetic analysis, and of these 43.1% were diagnosed as affected by the mutation, with 40.7% unaffected and thus suitable for transfer (the remainder had an abnormal genotype or the analysis was inconclusive). Hence, 62.1% of the PGD cycles led to fresh embryo transfer - with 3.6% transferred from one or two frozen-thawed unaffected embryos - resulting in 42 pregnancies in 40 women. Pregnancy rates were 41.4% per fresh embryo transfer and 23.1% per frozen. The overall pregnancy rate was 29%.

The series also included three cases of PGD on embryos previously cryopreserved for fertility preservation prior to chemotherapy, and these too resulted in two ongoing pregnancies.

Two female BRCA1 carriers were diagnosed with breast cancer within three months of the PGD treatment, despite breast screening shortly before treatment. One had a history of breast cancer, the other patient hadn't. The former patient went on to have healthy twins three years after the second breast surgery and chemotherapy, and following frozen/thawed embryo transfer.

So far, PGD for BRCA1 and BRCA2 gene mutations has been considered controversial. While most PGD procedures are indicated to remove completely the risk of inherited sex-linked and single-gene diseases (such as cystic fibrosis) in the children of affected couples, PGD for the breast cancer mutations cannot remove the risk completely - because the 10% background risk of breast cancer remains, even after PGD. Moreover, breast and ovarian cancers are usually of late onset, with prevention and therapeutic options constantly improving - so the chances of successful treatment, and many years of healthy life, are high.

Nor is breast cancer inevitable for a woman (or man) carrying a BRCA1/2 mutation. The controversy thus rests on the fact that a mutation in the BRCA genes increases susceptibility to breast or ovarian cancer, but does not reflect an inevitability for developing the diseases. However, with female carriers of a mutation in either gene having a lifetime risk of 60-80% for breast cancer, and a risk of 30-60% (BRCA1) or 5-20% (BRCA2) for ovarian cancer, many authorities have recognised the gravity of the risk and accepted a BRCA gene mutation as an indication for PGD.

So far, only five pregnancies after PGD for BRCA1/2 have been reported since the first was described in 2008.(1) The slow uptake reflects not just the controversial nature of the procedure, but also concerns over patient selection and the safety of hormonal stimulation for IVF in women at risk themselves of breast and ovarian cancers.

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The prevention of hereditary breast and ovarian cancer by PGD is 'feasible'

July 2, 2012

Lawrence LeBlond for redOrbit.com Your Universe Online

At least three genetic mutations found in the human brain have been linked to enlarged brain size (megalencephaly) and a number of disorders, including cancer, epilepsy and autism, according to new research led by Seattle Childrens Research Institute.

The mutations were found in the genes AKT3, PIK3R2 and PIK3CA. The mutations were also linked to vascular disorders and skin growth disorders, said the researchers. The study, published in the online edition of the journal Nature Genetics on June 24, offers important implications for the future of medicine through the research findings.

Study leaders, geneticist William Dobyns, MD, and Jean-Baptiste Rivire, PhD, discovered through their research additional proof that the genetic makeup of a person is not completely determined at the moment of conception. The new evidence ties in with previous research that recognized that genetic changes can occur after conception, although considered quite rare.

The researchers also discovered the genetic causes of these human diseases, including developmental disorders, may also directly lead to new possibilities for treatment.

AKT3, PIK3R2 and PIK3CA are found in all humans, but only when they are mutated do they lead to the diseases and disorders. PIK3CA is known as a cancer-related gene, and appears to make cancer more aggressive. Boston Childrens Hospital researchers recently found a common link between the PIK3CA gene and a rare condition known as CLOVES syndrome.

James Olson, MD, PhD, a pediatric cancer expert at Seattle Childrens and Fred Hutchinson Cancer Research Center acknowledged the two decades-worth of work that led to the findings.

This study represents ideal integration of clinical medicine and cutting-edge genomics, said Olson, who was not involved in the latest research. I hope and believe that the research will establish a foundation for successfully using drugs that were originally developed to treat cancer in a way that helps normalize intellectual and physical development of affected children.

He noted that the team did an excellent job by deep sequencing exceptionally rare familial cases and unrelated cases to identify the culprit pathway. He further noted that the three genes all encode core components of the phosphatidylinositol-3-kinase/AKT pathway, the culprit pathway, as referenced by his work.

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Gene Mutations Associated With Enlarged Brain Size, Disorders

Newswise Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor. The validation study also uncovered an association between the same rare genetic variant and improved rates of survival for patients with glioma.

The study, the first to confirm a rare susceptibility variant in glioma, appeared in a recent issue of the Journal of Medical Genetics, a journal published by the British Medical Association.

"Glioma is a poorly understood cancer with high morbidity and devastating outcomes," said study lead author Kathleen M. Egan, Sc.D., interim program leader of Cancer Epidemiology and vice chair of the Department of Cancer Epidemiology. "However, the discovery of the association of the TP53 genetic variant rs78378222 with glioma provides new insights into these tumors and offers better prospects for identifying people at risk."

According to the authors, their study "genotyped' the single nucleotide polymorphism (SNP, or "snip") rs78378222 in TP53, an important tumor suppressor gene. The researchers said the SNP disrupts the TP53 signal and, because of its activity, has been linked to a variety of cancers. This study linked the presence of the rare form of rs78378222 to deadly glioma.

The researchers conducted a large, clinic-based, case-control study of individuals age 18 and older with a recent glioma diagnosis. A total of 566 glioma cases and 603 controls were genotyped for the rs78378222 variant.

Study results reveal that the odds of developing glioma were increased 3.5 times among the rare variant allele carriers. However, when researchers examined the impact of rs78378222 on survival, they found an approximately 50 percent reduction in death rates for those who were variant allele carriers.

"That the variant increased survival chances was an unexpected finding," Egan said. "It is tempting to speculate that the presence of the risk allele could direct tumor development into a less aggressive path."

The researchers concluded that their study results "may shed light on the etiology and progression of these tumors."

In addition to researchers from Moffitt, researchers from The University of Alabama at Birmingham, Emory School of Medicine and Vanderbilt University participated in the study and co-authored the paper.

The study was supported by funding from Public Health Service Grants R01CA11674 from the National Cancer Institute and the U.S. Department of Health and Human Services, as well as institutional funding from Moffitt and the Vanderbilt-Ingram Cancer Center.

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Moffitt Cancer Center Study Validates Activity of Rare Genetic Variant in Glioma

ScienceDaily (July 2, 2012) Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor. The validation study also uncovered an association between the same rare genetic variant and improved rates of survival for patients with glioma.

The study, the first to confirm a rare susceptibility variant in glioma, appeared in a recent issue of the Journal of Medical Genetics, a journal published by the British Medical Association.

"Glioma is a poorly understood cancer with high morbidity and devastating outcomes," said study lead author Kathleen M. Egan, Sc.D., interim program leader of Cancer Epidemiology and vice chair of the Department of Cancer Epidemiology. "However, the discovery of the association of the TP53 genetic variant rs78378222 with glioma provides new insights into these tumors and offers better prospects for identifying people at risk."

According to the authors, their study "genotyped' the single nucleotide polymorphism (SNP, or "snip") rs78378222 in TP53, an important tumor suppressor gene. The researchers said the SNP disrupts the TP53 signal and, because of its activity, has been linked to a variety of cancers. This study linked the presence of the rare form of rs78378222 to deadly glioma.

The researchers conducted a large, clinic-based, case-control study of individuals age 18 and older with a recent glioma diagnosis. A total of 566 glioma cases and 603 controls were genotyped for the rs78378222 variant.

Study results reveal that the odds of developing glioma were increased 3.5 times among the rare variant allele carriers. However, when researchers examined the impact of rs78378222 on survival, they found an approximately 50 percent reduction in death rates for those who were variant allele carriers.

"That the variant increased survival chances was an unexpected finding," Egan said. "It is tempting to speculate that the presence of the risk allele could direct tumor development into a less aggressive path."

The researchers concluded that their study results "may shed light on the etiology and progression of these tumors."

In addition to researchers from Moffitt, researchers from The University of Alabama at Birmingham, Emory School of Medicine and Vanderbilt University participated in the study and co-authored the paper.

The study was supported by funding from Public Health Service Grants R01CA11674 from the National Cancer Institute and the U.S. Department of Health and Human Services, as well as institutional funding from Moffitt and the Vanderbilt-Ingram Cancer Center.

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Activity of rare genetic variant in glioma validated

Technology company Tegal Corp. said Monday it will buy CollabRx Inc., which develops technology that is used in genetic-based medicine.

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Tegal to buy CollabRx in all-stock deal

28-06-2012 04:23 I also posted a text version of my article on sacns! The Daily Telegraph is reporting on an amazing achievement... a vaccine, which causes nicotine to have no effect whatsoever... on mice. Nicotine calms a person, and causes a slowing in heartbeat. These positive effects of smoking, are something the scientists, think... need to end. So... How does it work? Genetic Engineering... yes, I said it... Genetically Modified (GM) antibody... as a cure. The anti-body filters nicotine out of the blood, and after it appears once, the bodies... of the mice, mimic it. Such means: no more pleasure from smoking. It is suggested that, soon they may graduate from Mice to Men. But if you are a mouse or a man... the best laid schemes and plans of either... to quit, might determine if one is a mouse or a man... There is still the emotional addiction to deal with, if the process works, and any side affects, as yet unspoken. For more on what professor of Genetic Medicine, Dr Ronald Crystal, Weill Cornell Medical College, New York, has to say to the Daily Telegraph: A jab that 'vaccinates' people against smoking for life being developed - Telegraph » Scientists have invented a jab that takes the pleasure out of smoking, it has emerged. 'A jab that 'vaccinates' people against smoking for life being developed; Scientists have invented a jab that takes the pleasure out of smoking, it has emerged.' by Richard Alleyne at 7:51AM BST 28 Jun 2012 www ...

Link:

Scientists invent cure to smoking... - Video

Latest Prevention & Wellness News

Doctors May One Day Harness the Immune System to Help People Quit Smoking

By Brenda Goodman, MA WebMD Health News

Reviewed by Louise Chang, MD

June 27, 2012 -- Scientists say they've developed a vaccine that may one day protect people against the addictive effects of nicotine -- but for now they have to settle for some success in mice.

The vaccine uses the shell of a harmless virus that, much like the Trojan horse, carries into cells genetic instructions for making an antibody against nicotine. When cells are "infected" by the virus, they get tricked into churning out a protein that blocks nicotine's biological effects.

"It's sort of like having Pac-Man floating around in the blood. [The antibodies] bind to the nicotine and prevent it from reaching its receptors in the brain," says Ronald G. Crystal, MD, chairman and professor of genetic medicine at Weill Cornell Medical College in New York City.

Researchers have tried to vaccinate people against nicotine before -- by directly injecting antibodies into the blood. The problem is that the antibodies disappear after only a few weeks, and the studies ultimately had disappointing results.

This time, researchers say they may have found a way to get the body to keep making more.

In a study published in the journal Science Translational Medicine, Crystal and colleagues at Scripps Research Institute in La Jolla, Calif., described how they were able to successfully vaccinate mice against nicotine.

View post:

Vaccine May Block the Effect of Nicotine

This is great news for me! Ive been wanting to quit smoking for years and this vaccine may be the answer for me to finally put down this addiction that Ive had in years.

CBS News reports:

Dr. Ronald G. Crystal, chairman and professor of Genetic Medicine at Weill Cornell Medical College in New York City. Crystals team has announced theyve successfully tested a new vaccine that may treat nicotine addiction.

Much like vaccines for diseases that create antibodies to fight infection, the vaccine creates antibodies against nicotine. However, previous attempts at similar vaccines have failed because within a few weeks the antibodies are gone, which wont exactly help people stay smoke-free.

Crystals team developed a vaccine that contains a virus consisting of a genetic sequence they engineered from a nicotine antibody, and injected it into the liver of mice. The injection genetically modifies the liver to churn out nicotine antibodies, along with other cells it typically makes, thus providing a nicotine antibody factory in the body. That suggests the effect wont diminish over time like that of other antibodies. The antibodies then work by targeting the nicotine cells within seconds of exposure and preventing them from reaching receptors in the brain that provide the chill out feeling, as Crystal called it.

The antibodies are little Pac-men that like nicotine and just gobble it up, Crystal said.

via

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I may finally be able to quit smoking. Vaccine stops nicotine from reaching the brain, may prevent addiction.

SAN DIEGO, June 28, 2012 /PRNewswire/ --Millennium Laboratories, the leading research-based clinical diagnostic company dedicated to improving the lives of people suffering from pain, announced today the introduction of Millennium Pharmacogenetic Testing (PGT). Millennium PGT is saliva-based testing to detect genetic variations in enzymes associated with the metabolism of medications commonly prescribed to patients suffering from debilitating chronic pain and pain-related effects. This testing will help clinicians identify patients who may benefit from modifying the drug selection or dosing of certain prescribed opioids including methadone, benzodiazepines, tricyclic antidepressants (TCAs), selective serotonin reuptake inhibitors (SSRIs), and serotonin norepinephrine reuptake inhibitors (SNRIs).

(Logo: http://photos.prnewswire.com/prnh/20120516/LA07836LOGO)

"This novel testing provides insight into whether or not a patient will experience the anticipated effect of a prescribed medication or be at increased risk for additional side effects," said Howard Appel, President of Millennium Laboratories.

Medication metabolism differs greatly among individuals and may partly be the result of genetic variations in metabolizing enzymes. These genetic variations can result in clinically significant differences in response to prescribed medications. By identifying genetic variations in drug-metabolizing enzymes, clinicians can more effectively personalize each patient's treatment. Incorporating pharmacogenetic testing into clinical practice has significant potential to improve the efficacy of drug treatment and reduce adverse effects by providing information that allows clinicians to better predict and understand patient responses to medications(1-3).

"Millennium's proprietary pharmacogenetic testing is an objective tool to individualize therapy and potentially improve patient outcomes," said Appel. "Identifying genetic characteristicsthat affect how commonly prescribed medications are metabolized is an example of how personalized medicine may improve the lives of those suffering from pain. Millennium is proud to introduce this best-in-classpharmacogenetic testing to the market."

"Pharmacogenetics is an emerging technology across many areas of clinical medicine that has already started to affect certain clinical decisions and likely will play an increasingly important role in pain medicine, especially in the area of safe prescribing," said Michael Brennan, M.D., a nationally recognized pain specialist practicing in Fairfield, Connecticut. "In select chronic pain patients, the combineduse ofurine drug testing and pharmacogenetic testing can help answer important clinical questions."

Appel called today's announcement "a major milestone" for people suffering from pain. "Since our founding in 2007, Millennium has quickly become the leader in the field of medication monitoring and drug detection," he said. "As that leader, it is incumbent upon us to continue to advance the science of pain management by introducing the newest technologies and advanced clinical tools. Today's announcement represents the culmination of a more than two-year effort."

All testing and analysis are performed at Millennium's state-of-the-art pharmacogenetics laboratory in San Diego. Millennium PGT is currently available upon request to healthcare professionals in select regions across the United States. The company anticipates nationwide availability later this year.

About Millennium Laboratories

Millennium Laboratories (http://millenniumlabs.com/) is the leading research-based, clinical diagnostic company dedicated to improving the lives of people with chronic pain. The company provides healthcare professionals with medication monitoring, drug detection and pharmacogenetic testing services to personalize treatment plans to improve clinical outcomes and patient safety.

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Millennium Laboratories Launches Innovative Pharmacogenetic Test, Paving the Way for Personalized Medicine in the ...

28-06-2012 02:51 Luke is an eighteen-year-old medical marijuana patient in California. He has been suffering from a rare genetic skin disorder his whole life that causes his skin can to blister and tear with just slight contact. He is required to have hand and throat surgery every few years in order to live more comfortably. At age sixteen, Luke first tried medical marijuana to help aid his symptoms. These symptoms include pain, night terrors, loss of appetite, insomnia, and isolation. Since then, Luke has seen improvements in all areas. Because of their higher potency, Luke has found that medical marijuana concentrates help him sleep better. He discovered the G-Pen personal vaporizer for it's ease of use compared to traditional methods of ingestion. Luke has now taken his crusade for the legalization of medical marijuana to new heights as he visits with the WeedMaps team to get the message out. Please take a moment and listen to Luke tell you his story of bravery and achievement over all odds. His story will inspire you. The G Pen - Vaporizer Pen

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My Life. My Medicine. - Luke's Story - Video

Several tests are now available that can analyse fetal DNA present in a pregnant woman's blood.

BSIP/PHOTOTAKE

Genetic tests that analyse fetal DNA from a pregnant woman's blood are arriving in a rush, giving parents powerful tools for gleaning information about their unborn offspring. Three companies have launched versions of such tests in the past 12 months, and a fourth plans to do so later this year.

But the commercialization of these tests has brought a legal battle that could not only affect corporate profits, but also limit which patients will be able to access the tests and under what terms. The tangle of lawsuits may also offer a taste of future conflicts in the rapidly growing medical-genomics industry.

If a single company has a monopoly on the market, it will essentially be able to dictate the standard of care and the quality of care, says Mildred Cho, a bioethicist at the Stanford University School of Medicine in California.

The four firms are all based in California Sequenom in San Diego, Ariosa Diagnostics in San Jose, and Verinata Health and Natera, both in Redwood City and use similar techniques to identify fetal DNA in maternal blood samples. The tests can spot genetic abnormalities, such as those that cause Down's syndrome, as early as ten weeks after conception several weeks sooner than tests already in use. In studies of women at high risk of carrying offspring with Down's syndrome, the tests also produced fewer false positives.

Patents are at the core of the conflict (see 'Blood feuds'). Sequenom licensed the method for detection of cell-free fetal DNA in a mother's bloodstream in 2005, and it now says that other companies are infringing this patent.

A spate of prenatal DNA tests has brought with it a host of legal disputes.

14 OCTOBER 2005

Sequenom licenses a patent for non-invasive prenatal diagnosis.

Link:

Fetal tests spur legal battle

Life Technologies Corporation (LIFE) has entered into several collaborations to expand the scope of sequencing. The latest in a line of alliances is with Boston Children's Hospital. The tie-up is meant to develop an end-to-end genetic sequencing lab workflow based on the companys Ion Proton sequencer. This collaboration will facilitate treatment decisions for patients with complicated conditions.

The tie-up with Boston Children's Hospital comes on the heels of collaboration with the University of North Texas Health Science Centers Institute of Applied Genetics. Both parties would utilize the company's Ion Personal Genome Machine (PGM) system for implementation of best technologies in forensics DNA analyses. Training forensic analysts on the application of next generation sequencing will be a key output of the collaboration.

In another development, Life Technologies partnered with the Hospital for Sick Children to advance pediatric genomic research on the Ion Proton sequencer. Under the agreement, numerous clinical research samples will be mapped daily using the sequencing platform in the hospital's newly launched Centre for Genetic Medicine. The Ion Proton sequencer, which relies on semiconductor chips, is designed to sequence an entire human genome in a day for $1,000. This is much faster and less expensive than traditional next generation systems.

Life Technologies Genetic Analysis business received a strong boost from the Ion Torrent franchise. This franchise was inducted into the companys portfolio with the acquisition of Ion Torrent, a DNA sequencing company, in October 2010. The company realized robust growth from its Ion PGM in the last few quarters. Launched in December 2010, shipment placements of the Ion PGM numbered 700 at the end of 2011.

Maintaining the upbeat trend, sales of the PGM rose during the last reported quarter. The company is satisfied with the progress made so far with Ion Torrent technologies and expects the growth momentum to continue. This growth will be supported by more PGM placements and the scheduled launch of the Ion Proton Benchtop sequencer in the second half of 2012.

The sequencing market has become competitive with the presence of Illumina (ILMN). Moreover, another player, Qiagen (QGEN) is also entering the next generation sequencing market.

We have a Neutral recommendation on Life Technologies. The stock retains a Zacks #3 Rank (hold) in the short term.

Read the Full Research Report on ILMN

Read the Full Research Report on QGEN

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LIFE's Ion Suite Thrives on Tie-Ups

Researchers have developed a vaccine that successfully treated nicotine addiction in mice, according to a study published Wednesday in Science Translational Medicine.

With just a single dose, the vaccine protected mice against nicotine addiction for the rest of their lives, the researchers said. The vaccine works by prompting the animals liver to act as a factory that continually produces antibodies. The antibodies then absorb the nicotine as soon as it hits the bloodstream, preventing it from reaching the brain or the heart.

According to the studys lead investigator, Dr. Ronald Crystal, chairman and professor of Genetic Medicine at Weill Cornell Medical College, it normally takes nicotine about six to 10 seconds to cross the bloodstream, reach the brain and bind to receptors. This is what produces the calm or relaxed feelings that drive nicotine addiction. By blocking nicotine from reaching the brain, the antibodies prevent those pleasurable feelings from occurring.

"As far as we can see, the best way to treat chronic nicotine addiction from smoking is to have these Pacman-like antibodies on patrol, clearing the blood as needed before nicotine can have any biological effect," Crystal said in a released statement.

Importantly, the vaccine allows the body to build up its own immunity against nicotine, making it more effective and consistent than vaccines developed in the past.

Crystal said previous nicotine vaccines likely failed because they directly injected nicotine antibodies into the body, rather than prompting the body to build its own antibodies. This meant these passive vaccines had to be injected multiple times, because they only lasted for three to four weeks, and the dosage level required may have varied from person to personparticularly if the person started smoking again.

On the other hand, the researchers knew the second main type of vaccines, known as active vaccines, wouldnt protect against nicotine addiction either. Active vaccinesused to protect people against viruses such as polio or the mumpswork by introducing a piece of a virus into the body, which in turn prompts the body to develop a lifelong immune response against the invading agent. However, nicotine molecules are too small for the immune system to recognize.

As a result, the researchers had to develop a third kind of vaccine: a genetic vaccine, which works by binding the genetic sequence of a nicotine antibody to a non-harmful virus. The virus is directed to go to the liver cells, and the genetic sequence of the antibody then inserts itself into those cells, causing the cells to produce a stream of the antibodies along with the other molecules they make.

We can target almost any organ [with this type of vaccine], but the reason for using the liver is that it is a very good secretory organ, Crystal told FoxNews.com. The liver is very good at making and secreting many proteins, so we just genetically modified the liver cells to also make antibodies against nicotine.

Crystal said he first thought of the concept behind the vaccine a few years ago while passing by a newsstand. I saw a magazine cover that said something along the lines of Addiction: We Need Vaccines and got this idea to use gene therapy.

Read the original:

Researchers develop vaccine to treat nicotine addiction

(CBS News) Trying to quit smoking? It's tough - studies suggest 70 to 80 percent of people who try to quit smoke within six months.

That's because nicotine is so addictive, says Dr. Ronald G. Crystal, chairman and professor of Genetic Medicine at Weill Cornell Medical College in New York City. Crystal's team has announced they've successfully tested a new vaccine that may treat nicotine addiction.

Crystal told HealthPop that many stop-smoking campaigns try to attack the source of smoking, cigarettes, but what his team wanted to do was find a way to block the sensation nicotine provides in the brain that makes smoking so addictive.

"Smoking is a terrible problem in society," Crystal told HealthPop. "It's enormously costly to our society, not only the pain and suffering, but the amount of health care costs. In that sense, it's important for us to develop strategies that in fact will be effective."

His team's vaccine is described in the June 27 issue of Science Translational Medicine. How does it work?

Much like vaccines for diseases that create antibodies to fight infection, the vaccine creates antibodies against nicotine. However, previous attempts at similar vaccines have failed because within a few weeks the antibodies are gone, which won't exactly help people stay smoke-free.

Crystal's team developed a vaccine that contains a virus consisting of a genetic sequence they engineered from a nicotine antibody, and injected it into the liver of mice. The injection genetically modifies the liver to churn out nicotine antibodies, along with other cells it typically makes, thus providing a nicotine antibody "factory" in the body. That suggests the effect won't diminish over time like that of other antibodies. The antibodies then work by targeting the nicotine cells within seconds of exposure and preventing them from reaching receptors in the brain that provide the "chill out" feeling, as Crystal called it.

"The antibodies are little Pac-men that like nicotine and just gobble it up," Crystal said.

When mice are given nicotine, they experience reduced blood pressure and heart activity and appear "chilled out," which suggests the nicotine reached their brains. But mice tested with the new vaccine appeared just as active as they were before, as measured by infrared beams in their cages.

"It's like giving them water - nothing happens," Crystal said. However he added that there was a caveat to his study: "Mice aren't small humans."

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Vaccine stops nicotine from reaching the brain, may prevent addiction

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