Genetics and Heart Disease: What you Need to Know
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Seattle Genetics (SGEN) and Agensys, a subsidiary of Astellas Pharma Inc. (ALPMY), recently announced that the former has exercised its option to co-develop one more antibody-drug conjugate (ADC), ASG-15ME, under an existing collaboration. ASG-15ME is an ADC which targets the tumor antigen SLITRK6.

Astellas has filed an investigational new drug (IND) application to the US Food and Drug Administration (:FDA) so that it can commence a phase I study with ASG-15ME.

We note that the agreement between Astellas and Seattle Genetics dates back to Jan 2007. The companies had collaborated to jointly research, develop, fund and market ADCs for cancer treatments. The companies are currently co-developing a couple of ADCs - ASG-5ME and ASG-22ME.

ADCs have lately attracted a lot of attention with major companies entering into collaborations for developing potent ADCs for cancer therapy. Seattle Genetics has collaborations with companies like Roche Holding AG's (RHHBY) Genentech for the development of ADCs.

Apart from Astellas, Seattle Genetics has ADC co-development agreements with Genmab (GNMSF) and Oxford BioTherapeutics.

Seattle Genetics sole marketed ADC product is Adcetris. Adcetris was approved by the FDA in Aug 2011 for the treatment of patients with Hodgkin lymphoma (HL) after failure of autologous stem cell transplant (:ASCT) or after failure of at least two prior multi-agent chemotherapy regimens in patients who are not suitable for ASCT. Adcetris was also approved for systemic anaplastic large cell lymphoma (sALCL) in treatment-experienced patients. Adcetris is also being evaluated in other indications.

Seattle Genetics carries a Zacks Rank #3 (Hold) while Astellas and Roche carry a Zacks Rank #4 (Sell). Right now, Genmab looks more attractive with a Zacks Rank #1 (Strong Buy).

Read the Full Research Report on SGEN

Read the Full Research Report on RHHBY

Read the Full Research Report on GNMSF

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SGEN/Astellas to Co-Develop Another ADC

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LOS ANGELES, CA--(Marketwired - Jun 28, 2013) - It's not exactly some big revelation that there is a great need to develop novel technologies to combat cancer. The future is probably more optimistic now, though, than in the past as many companies have spent the time and money to develop promising new therapeutic candidates outside of the traditional scope of small molecule drugs. Drug companies with different approaches, like that of Seattle Genetics Inc. and Nuvilex, Inc. (OTCQB: NVLX) are leading to innovative and promising new approaches in oncology research.

Seattle Genetics Inc. has established itself as the go-to partner with its antibody-drug conjugate, or ADC, technology. ADCs are monoclonal antibodies that are designed to selectively delivery high-toxicity agents directly to tumor cells. Coupled with the company's linker systems, the agent can travel safely through the bloodstream and then be released once inside targeted tumor cells. Big pharma is seeing this system as having a distinct advantage over therapies today and the deal flow at Seattle Genetics exemplifies the interest. On June 25, Bayer HealthCare penned an agreement with Seattle Genetics for an ADC collaboration that includes a $20 million upfront payment and potential for $500 million more should pre-defined milestones be met.

To date, Seattle Genetics has more than 15 ADCs in clinical development utilizing its technology that have the potential to generate $3.5 billion in milestone payments, plus royalties, for the company.

Upstart Nuvilex is an expert in a unique live cell encapsulation technology that, similar to Seattle Genetics, gets the drug to its target to improve therapeutic outcomes. Nuvilex has solidified itself as a player in biotechnology that could address a broad spectrum of indications with its live cell encapsulation technology, including diabetes and cancer, to name two major ones.

For cancer, Nuvilex's live cell encapsulation has been used to convert prodrug chemotherapies into active drugs once they are placed in close proximity to a tumor via catheterization into upstream blood vessels, optimizing the cancer-killing effect of the anticancer drug with little toxicity due to lower dosage levels of the prodrug being required.

The company is positioned to potentially deploy its live cell technology for the treatment of various forms of cancer, particularly difficult-to-treat tumors such as advanced inoperable pancreatic cancer, breast cancer, and other types of solid tumors.

Although The Green Baron Report and Evergreen Marketing, Inc. are not under any current contract for compensation from Seattle Genetics or Nuvilex, Evergreen Marketing has maintained interest in this sector since it provided coverage under contract back in 2011.

Many of the capabilities of Nuvilex's live cell encapsulation technology have been investigated, but perhaps the most compelling is the increased survival rates from a Phase I/II clinical trial in non-resectable pancreatic cancer patients. Fourteen patients were treated with the long-used anticancer drug ifosfamide following implantation near the pancreas, and therefore the tumor, of encapsulated cells capable of converting ifosfamide into its active form. One-third the standard dose of ifosfamide and only two cycles of drug treatment were given (ifosfamide is usually given for several cycles). Median overall survival was 44 weeks and the one-year survival rate was 36 percent, impressive figures by any standard.

Being diagnosed with pancreatic cancer is effectively a death sentence with five-year survival rates of a meager 6 percent from 2003 - 2009, according to the National Cancer Institute. The only drug currently approved by the U.S. Food and Drug Administration as a single agent for the treatment for pancreatic cancer is Eli Lilly & Co.'s (LLY) Gemzar. By comparison, the Nuvilex clinical data outpaced historic data for Gemzar in both median survival (44-weeks vs. 28 weeks for Gemzar)-and the one-year survival rate where Nuvilex's treatment gave a 100-percent improvement in Gemzar's 18-percent one-year survival rate.

With that data in hand, Nuvilex is in the midst of raising the capital to sponsor a larger-scale Phase II/III clinical trial to further validate the safety and efficacy of its technology. In the planned trial, Nuvilex's treatment will be compared head-to-head with Gemzar. If the results of that trial supports those from the previous clinical trial, it is foreseeable that major pharma will take notice of the multiple uses of Nuvilex's cell encapsulation technology as a more potent and less toxic means of drug delivery, akin to the days gone by when Seattle Genetics first clinically proved the prowess of ADC technology.

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New Approaches to Cancer Therapies Driving Companies Like Seattle Genetics and Nuvilex

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BOTHELL, Wash. & SANTA MONICA, Calif.--(BUSINESS WIRE)--

Seattle Genetics, Inc. (SGEN) and Agensys, Inc., an affiliate of Tokyo-based Astellas Pharma Inc. (Tokyo:4503), today announced that Seattle Genetics has exercised an option to co-develop an additional antibody-drug conjugate (ADC) under the companies existing ADC collaboration agreement. The ADC, called ASG-15ME, targets the tumor antigen SLITRK6, which is known to be expressed on bladder and lung cancer. Agensys has submitted an investigational new drug (IND) application to the U.S. Food and Drug Administration (FDA) for a phase 1 trial of ASG-15ME.

Through our collaboration and co-development agreements with companies like Agensys/Astellas, Seattle Genetics continues to enhance its ability to innovate by combining our industry-leading ADC technology with proprietary cancer targets and antibodies to develop potential new treatments for patients with cancer, said Eric L. Dobmeier, Chief Operating Officer of Seattle Genetics. ADCs represent a novel therapeutic approach, and through our pipeline and collaborations more than half of the ADC candidates in clinical development utilize our technology. We look forward to working with Agensys/Astellas to advance ASG-15ME.

Were eager to continue our strong collaboration with Seattle Genetics for ASG-15ME, said David Stover, Ph.D., Senior Vice President, Agensys Site Head. This collaboration with Seattle Genetics is in line with our goal to utilize the most advanced technologies to generate more innovative medicines in oncology.

ASG-15ME is an ADC composed of a fully human antibody directed to SLITRK6, an antigen expressed in multiple solid tumors. Preclinically, ASG-15ME has demonstrated antitumor activity in models of bladder and lung cancer. The antibody is attached to a potent, synthetic cytotoxic agent, monomethyl auristatin E (MMAE), via an enzyme-cleavable linker using Seattle Genetics proprietary technology. The ADC is designed to be stable in the bloodstream, but to release MMAE upon internalization into SLITRK6-expressing tumor cells, resulting in targeted cell-killing.

Upon the option exercise, Seattle Genetics will make an option exercise payment and thereafter fund half of the future development costs for the ASG-15ME program. The impact of the option exercise on Astellas current fiscal year (from April 1, 2013, to March 31, 2014) financial forecast will be immaterial.

About the Seattle Genetics / Agensys Collaboration

Seattle Genetics and Agensys entered into the ADC collaboration in January 2007, and expanded it in November 2009. Under the collaboration, Agensys has the right to obtain exclusive ADC licenses for multiple cancer targets. The companies are co-developing and will globally co-commercialize and share profits on a 50:50 basis for ASG-5ME, ASG-22ME and ASG-15ME. Any ADC programs to which Seattle Genetics does not opt-in will be developed and commercialized exclusively by Agensys, and Seattle Genetics is entitled to progress-dependent fees, milestone payments and mid-single-digit royalties on worldwide net sales of such products.

ADCs are monoclonal antibodies that are designed to selectively deliver cytotoxic agents to tumor cells. With over a decade of experience and knowledge in ADC innovation, Seattle Genetics has developed proprietary technology employing synthetic cytotoxic agents and stable linker systems that attach these cytotoxic agents to the antibody. Seattle Genetics linker systems are designed to be stable in the bloodstream and release the potent cell-killing agent once inside targeted cancer cells. This approach is intended to spare non-targeted cells and thus reduce many of the toxic effects of traditional chemotherapy while enhancing antitumor activity. Agensys utilizes its portfolio of novel cancer targets to generate high-affinity fully human, proprietary antibodies, and combines selected antibodies with Seattle Genetics ADC technology to produce new cancer therapies.

About Seattle Genetics

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Seattle Genetics and Agensys, an Affiliate of Astellas, Announce Co-Development of an Additional Antibody-Drug ...

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Gene therapy - prospects and limitations: Mariam Meskhi at TEDxIBEuropeanSchool
The speaker talks about the method of the gene-therapy as a solution to many health problems, but at the same time underlines it #39;s insufficiency for certain ...

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Spinal cord injury wheelchair racing 21,1 km Suzuki RVK Icland 24 6 2013
Arnar Helgi Lrusson sci 2002 T2/3 complete This video is since 2013 visit my website http://www.wix.com/amcorp/sci.

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Spinal cord injury wheelchair racing 21,1 km Suzuki RVK Icland 24 6 2013 - Video

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MaSTherCell - World Stem Cells Regenerative Medicine Congress 2013
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Merck Millipore - World Stem Cells Regenerative Medicine Congress 2013
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Terumo BCT - World Stem Cells Regenerative Medicine Congress 2013
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Quality Assistance S.A. - World Stem Cells Regenerative Medicine Congress
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Savsu Technologies - World Stem Cells Regenerative Medicine Congress 2013
We spoke with some of the sponsors at Europe #39;s largest stem cells and regenerative medicine industry conference. This is a three day congress that stages a s...

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Cell Therapy Catapult - World Stem Cells Regenerative Medicine Congress 2013
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The Science of Mesenchymal Stem Cells and Regenerative Medicine - Arnold Caplan PhD (Part 7 of 7)
In this final segment, Prof. Caplan discusses: Mesenchymal stem cells make anti-bacterial molecules, How retro-orbital injections of human MSCs cure mice wit...

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Stem Cell Therapy Becomes More Widely Available
The average athlete may soon have access to the benefits of stem cell research.

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By Philip C. Tubeza Philippine Daily Inquirer

Researcher Shruti Dave (R) and assistant Chetan Patel work on stem cell cultures at the Transplantation Biology Research Centre situated at The Institute of Kidney Disease and Research Centre (IKDRC), Civil Hospital campus in Ahmedabad on February 6, 2013. AFP FILE PHOTO

MANILA, PhilippinesDont focus too much on youthful looks.

Manila Auxiliary Bishop Broderick Pabillo gave this advice on Tuesday as he urged the faithful to use stem cell therapy only for medical purposes.

Its not that we dont want it but (stem cell theraphy) is for curing the sick. (Having youthful looks) is just a side effect. (The therapy) wasnt invented for that, Pabillo said in a Church forum in Manila.

He said the advent of stem cell therapy should also lead the faithful to strive for a more fruitful and meaningful life.

The problem is people dont want to die so they want to extend their life. But when they were young, they did not use the time given to them wisely. We see a lot of people wasting their time, Pabillo said.

And when they grow up, they want to live longer. I hope people, while they are young, would use the blessings they receive so that when the time comes to leave, they can say that their mission is finished, he added.

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Bishop urges faithful to use stem cell therapy for medical purposes only

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Should there be a law on stem cell therapy? The House of Representatives (HOR) has no idea. And for the sake of finding answer, House leaders intend to consult with medical experts about the issues surrounding the procedure. Speaker Feliciano Sonny Belmonte Jr. admits lawmakers need an expert opinion before they take any legislative action on reports about the negative effects of the expensive treatment. At this point, we have absolutely no basis to say that it was wrong (or) it wasnt wrong (or) it should be regulated, it should not be regulated, Belmonte said. Belmonte issued the statement after the Philippine Medical Association (PMA) said it is looking into the recent deaths of three politicians, who died after receiving xenogenic treatment in Germany. PMA president Dr. Leo Olarte said his group is still trying to find out whether politicians died due to their illness or due to hypersensitive reaction from animal-based stem cell treatments they received. On Monday, Belmonte revealed that Camiguin Rep. Pedro Romualdo underwent stem cell treatment in Germany before he died in April due to pneumonia. Incoming Bohol Rep. Aris Aumentado also admitted his father, the late Bohol Rep. Erico Aumentado, had undergone similar treatment in September before he died last Christmas, also due to pneumonia. We are still awaiting the word of the experts and the medical experts, not political experts on how, if anything, is demanded from us, Belmonte said. Olarte, who is the spokesperson of Philippine Society for Stem Cell Medicine, cited initial information that the politicians received stem cell therapy that used sheeps. He reiterated that receiving animal-based stem cell is dangerous because it may trigger complications such as graft versus host reaction. The expert advised Filipinos and public officials to choose autologous adult stem cell treatment, which is derived from the patients own blood, bone marrow or fat. Last March, the Department of Health (DOH) has restricted hospitals and other facilities from using genetically-altered cells and tissues of human in carrying out stem-cell therapy and treatments in the country. Health secretary Enrique Ona added their department also prohibits the use of umbilical cord, fat-derived human stem cells, and live animal stem cells for the conduct of the procedure locally.

ONA released Administrative Order (AO) 2013-0012, which seeks to ensure the safety of people who want to undergo human stem cell and cell-based therapies.

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House seeks probe on stem-cell therapy link to solons' deaths

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MANILA - Two congressmen who died after undergoing stem cell therapy abroad were already sick before getting treatment, Health Secretary Enrique Ona said Tuesday.

Speaking to reporters, Ona refused to say if stem cell treatment caused the deaths of congressmen Erico Aumentado and Pedro Romualdo. Both lawmakers died of pneumonia.

"First hindi ko alam yun. Second, ang information that we got: It has nothing to do Ibig sabihin, they were already very sick bago nagpa-so-called stem call, baka sakali," he said in the interview.

On the other hand, the health secretary said clinics or hospitals in the Philippines offering stem cell treatments should be duly licensed by the Department of Health.

Dapat yung mga clinic or mga ospital na gumagawa noon kailangang mayroong license, approved ngayon ng DOH. Kaya iinspekyunin sila," he said.

House Speaker Sonny Belmonte earlier confirmed Aumentado and Romualdo had died after undergoing stem cell treatment in Germany last year. He clarified that it has not been established whether stem cell therapy was the cause of death.

Belmonte said that after having stem cell therapy, the 2 felt rejuvenated and may have exerted themselves during the last election campaign.

Belmonte said Aumentado even started walking around without a cane.

Aumentado's son, Aristotle, earlier said his father had leg thrombosis for which he had to undergo bifemoral bypass and stem cell therapy .

After stem cell therapy, his father started walking without a cane, and sometimes had low-blood sugar. However, he said they forgot to get him stem cell treatment for his father's pneumonia, which he had before the stem cell treatment in Germany last September.

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DOH: Solons who died after stem cell therapy were sick

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FIRST ON 7: Researchers have identified a group of genes that make people more prone to migraines.

The scientists, including a team from Brisbane, say their findings should lead to new and effective treatments.

A migraine is a common brain disorder that affects 14 per cent of adults but it is not known what causes them.

Experts at the Queensland Institute of Medical Research were part of the international study which analysed DNA samples from 100,000 people.

This information was then used to compare the genes of people who suffer from migraines with those who have never had one.

Every time Maria Balzono gets a migraine her life is put on hold for up to three days.

She has been treated in hospital, tried medication and physiotherapy but nothing has managed to ease the pain.

She says: "It's terrible when I feel a headache coming on, I start to panic sometimes I think oh gosh, I know what's ahead of me."

Dr Dale Nyholt was part of the world's largest study into the crippling condition.

"A lot of people around the world are working really hard to try find out what's underlying their migraine headaches," he said.

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Gene breakthrough in migraine study

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DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/zkc7dc/epigenetics) has announced the addition of the "Epigenetics Technology Market (Epigenomics, DNA Methylation, Histone Modifications, RNA Interference, Cancer Therapeutics, Personalized Medicine) (2012 - 2017)" report to their offering.

Over the last decade, genomics and proteomics have been used as key tools to discover potential drug targets and to better understand the complexities of biology. To balance research in these areas, epigenetics offers a potential opportunity in understanding the basis of various diseases in a different approach. Thus, epigenetics is study of heritable changes in genome function and gene expression had opened the new gate of biology to understand the basis of diseases and presents incredible opportunities for disease diagnosis and drug discovery.

Report covers the market by therapeutics sector in oncology conditions, non-oncology indications and personalized medicine. The report also covers the market by research and diagnostics sector in gene regulation studies, biomarker detection and drug discovery. In addition, it also includes the factors driving and restraining the market and covers the market scenario in the U.S., Europe, Asia and the Rest of the World (ROW). This report will provide the company profiles of key companies along with the competitive analysis.

The Global Epigenetics market is showing a double digit growth (CAGR 25%) due to supportive factors such as, (i) huge amount of funds and investments, (ii) increasing partnerships and collaborations, and (iii) rapid screening tools. Epigenetics is used in the identification of new epigenetic biomarkers, which will aid in better diagnosis and prognosis of diseases. While there are factors favoring the market growth, there are concerns such as change in re-imbursement systems and lack of predictive markers holding back the growth of this market. However, the positive aspects in this field may very well offset the market restraints to aid the market grow at an exceptional rate.

Key Topics Covered

1. Introduction

2. Executive Summary

3. Epigenetics - Technology Landscape Analysis

4. Epigenetics - Market Landscape Analysis

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Research and Markets: Epigenetics Technology Market - 2013 Report

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SAN FRANCISCO, June 26, 2013 /PRNewswire/ --On June 13, the United States Supreme Court unanimously ruled that naturally occurring human genes are ineligible for patenting. The decision opens the door for researchers throughout the country to move forward with potentially life-saving genetic testing for a variety of diseases.

Dr. Stephen B. Shrewsbury, author of Defy Your DNA: How the New Gene Patch Personalized Medicines Will Help You Overcome Your Greatest Health Challenges, says that the decoding of the human genome has led to dozens of new medicines that will stop hereditary illness. "Called oligomers, these medicines are nicknamed gene patches," he says, "because they act like software patches to fix the faulty message that comes from damaged pieces of genetic coding. If those genes were patented, it would make it more difficult for researchers to advance work such as this.

Dr. Shrewsbury adds: "This new drug format has the potential to stop everything from cancer and diabetes to rare diseases like muscular dystrophy and sickle cell anemia. These medications will literally revolutionize healthcare."

In addition, gene sequences will become the foundation for very specific targeted therapies. Shrewsbury predicts blockbuster drugs will be replaced by personalized medicines geared directly to you and your disease. In the more distant future, gene patch therapy will be superseded by gene replacement therapy whereby new genes will be inserted while removing less favorable ones.

The Supreme Court ruled that patents owned by Salt Lake City-based Myriad Genetics were void because they covered DNA isolated from the body as opposed to a synthetic DNA created in a lab. Justice Clarence Thomas wrote: "We hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated."

This ruling is a win-win for both researchers and patients alike, believes Dr. Shrewsbury. The gene patent ban will serve to facilitate medical research on drugs such as those described in Defy Your DNA. "A big benefit with this new type of medicine is that the development programs take less time," he says. He also believes costs of genetic profile testing will become affordable for the average family, leading to a brave new medical world.

"In the not too distant future, when a child is born, they'll be required to have two documents: a birth certificate and a map of their DNA."

Dr. Stephen B. Shrewsbury is a physician whose 33-year career has taken him from the intimate world of family practice to Chief Medical Officer at a leading biotech firm on the cutting edge of global drug development and therapeutics. Since 2009, he has served on the Oligonucleotide Safety Working Group (OSWG), an international working group devoted to the safe development of gene patch medicines.

CONTACT: Sharon Cook Land: 707-268-8784 or cell: 415-302-1752 Email http://www.defyyourdnabook.com

This press release was issued through eReleases Press Release Distribution. For more information, visit http://www.ereleases.com.

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Supreme Court Ruling on Gene Patents Will Speed Up Revolution in Health Care, According to Author of New Gene Patch ...

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Aspirins benefit in thwarting colon cancer is driven by a gene mutation that makes tumor cells less sensitive to the drugs effects, according to a study that may lead to personalized prevention strategies.

Developing colon cancer with a mutation of the gene BRAF was similar for both regular aspirin users and non-users, according to research published today in the Journal of the American Medical Association. Regular aspirin users had a 27 percent reduced risk of developing cancer without the mutation compared with those who didnt regularly take the drug, the study found.

The finding, one of the first to show that aspirin use doesnt prevent colon tumors with the BRAF defect, may help guide doctors when recommending the drugs use to prevent the disease, said Andrew Chan, a study author. More studies are needed to better understand the role aspirin plays in cancer prevention, who is most at risk and which polyps may develop into tumors with a BRAF mutation, he said.

Weve entered a new era in which we would potentially start to think about personalizing preventive intervention, said Chan, an associate professor of medicine at Harvard Medical School in Boston, in a telephone interview. Thats something we havent been doing so far. Weve been really trying to develop one size fits all treatment.

A study last year in the New England Journal of Medicine showed that the protective effect of aspirin was limited to those whose tumors had a gene defect called PIK3CA. About 20 percent of colon cancers have genetic mutations in the PIK3CA gene. That compares to 10 percent to 15 percent of cancers with a defect in the BRAF gene, todays authors said.

Colorectal cancer is the third most commonly diagnosed malignancy in both U.S. men and women, excluding skin cancers, and the third leading cause of cancer death, according to the American Cancer Society. About 102,480 new cancers of the colon and 40,340 cases of rectal cancer will be diagnosed this year. About 50,000 people are expected to die of the disease.

Researchers in the study collected questionnaire data on aspirin use among participants of the Nurses Health Study and the Health Professionals Follow-up Study. Of the 127,865 people in the study, 1,226 cases of rectal and colon cancers were identified and made available for molecular data.

They found that the more aspirin participants used each week the less chance of developing cancer without the mutation compared with those who didnt take the medication. There was no benefit in increasing aspirin use on the development of cancer with the mutated gene.

These results identify biomarkers of response to aspirin administered either preventively or therapeutically and are likely to help tailor the use of aspirin in the prevention and treatment of colorectal cancer, wrote Boris Pasche, a professor of medicine at the University of Alabama at Birmingham and a contributing editor for JAMA, in an accompanying editorial

To contact the reporter on this story: Nicole Ostrow in New York at nostrow1@bloomberg.net

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Aspirin Benefit in Colon Cancer Tied to Gene Variant

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The Medicine of Tomorrow: With an Eye to the Individual - Professor Henri Atlan
Decoding the human genome and deepening our understanding of the human body -- enable us today not only to identify the causes of a long list of illnesses bu...

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Hugh Rienhoff prepared his daughters DNA for sequencing at home using second-hand equipment.

LEAH FASTEN

Hugh Rienhoff says that his nine-year-old daughter, Bea, is a fire cracker, a tomboy and a very sassy, impudent girl. But in a forthcoming research paper, he uses rather different terms, describing her hypertelorism (wide spacing between the eyes) and bifid uvula (a cleft in the tissue that hangs from the back of the palate). Both are probably features of a genetic syndrome that Rienhoff has obsessed over since soon after Beas birth in 2003. Unable to put on much muscle mass, Bea wears braces on her skinny legs to steady her on her curled feet. She is otherwise healthy, but Rienhoff has long worried that his daughters condition might come with serious heart problems.

Rienhoff, a biotech entrepreneur in San Carlos, California, who had trained as a clinical geneticist in the 1980s, went from doctor to doctor looking for a diagnosis. He bought lab equipment so that he could study his daughters DNA himself and in the process, he became a symbol for the do-it-yourself biology movement, and a trailblazer in using DNA technologies to diagnose a rare disease (see Nature 449, 773776; 2007).

Talk about personal genomics, says GarySchroth, a research and development director at the genome-sequencing company Illumina in San Diego, California, who has helped Rienhoff in his search for clues. It doesnt get any more personal than trying to figure out whats wrong with your own kid.

Now nearly a decade into his quest, Rienhoff has arrived at an answer. Through the partial-genome sequencing of his entire family, he and a group of collaborators have found a mutation in the gene that encodes transforming growth factor-3 (TGF-3). Genes in the TGF- pathway control embryogenesis, cell differentiation and cell death, and mutations in several related genes have been associated with Marfan syndrome and LoeysDietz syndrome, both of which have symptomatic overlap with Beas condition. The mutation, which has not been connected to any disease before, seems to be responsible for Beas clinical features, according to a paper to be published in the American Journal of Medical Genetics.

Hal Dietz, a clinician at Johns Hopkins University School of Medicine in Baltimore, Maryland, where Rienhoff trained as a geneticist, isnt surprised that the genetic culprit is in this pathway. The overwhelming early hypothesis was that this was related, says Dietz, who co-discovered LoeysDietz syndrome in 2005.

Rienhoff had long been tapping experts such as Dietz for assistance. In 2005, an examination at Johns Hopkins revealed Beas bifid uvula. This feature, combined with others, suggested LoeysDietz syndrome, which is caused by mutations in TGF- receptors. But physicians found none of the known mutations after sequencing these genes individually. This was a relief: LoeysDietz is associated with devastating cardiovascular complications and an average life span of 26 years.

In 2008, Jay Flatley, chief executive of Illumina, offered Rienhoff the chance to sequence Beas transcriptome all of the RNA expressed by a sample of her cells along with those of her parents and her two brothers. After drilling into the data, Rienhoff and his collaborators found that Bea had inherited from each parent a defective-looking copy of CPNE1, a poorly studied gene that seems to encode a membrane protein. It looked like the answer.

But questions remained. The gene did not have obvious connections to Beas features, and publicly available genome data suggests that the CPNE1 mutations are present in about 1in1,000people an indication that there should be many more people like Bea.

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Father’s genetic quest pays off

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Public release date: 26-Jun-2013 [ | E-mail | Share ]

Contact: Hilary Glover hilary.glover@biomedcentral.com 44-020-319-22370 BioMed Central

Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds research in BioMed Central's open access journal Genome Medicine. The research compares several sequencing technologies in the same individual with Charcot-Marie-Tooth disease (CMT), and shows that sequencing the coding regions alone at high depth of coverage can identify the genetic variation behind this disease, and was also able to resolve previous ambiguities.

Next generation sequencing for understanding human DNA variation and genetic disorders is advancing in leaps and bounds. Whole genome sequencing reads all of an individual's DNA, whereas exome sequencing captures only the parts of the DNA which code for proteins. Exome sequencing is faster and cheaper, but concerns have previously been raised that it misses important information.

A team from Baylor College of Medicine led by Prof. James Lupski and Prof. Richard Gibbs compared several different exome and whole genome sequencing technologies on DNA from the same person with CMT. Prof. Jim Lupski explained, "Both methods were able to find the same 12 variants which affect cellular response to specific drugs such as betablockers, warfarin and the anti-cancer drug paclitaxel, and identify novel CMT-associated mutations in SH3TC2 that encodes for a protein with a role in peripheral nerve myelination."

Exome sequencing had fewer false positives, and a greater sensitivity due to the higher coverage achieved when focusing only in a small fraction of the genome. Consequently it was able to correctly identify nucleotides which were ambiguous when using whole genome sequencing at lower coverage, and so clarify whether they were associated with CMT or not.

Prof. Richard Gibbs commented, "The higher coverage afforded by focusing on the exome at approximately 120x for clinical exomes allows greater precision of exome sequencing making this a superior approach, rather than a shortcut, to find which people might respond to a particular therapy or to define who has a specific disease."

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Whole genome or exome sequencing: An individual insight

Recommendation and review posted by Bethany Smith

Public release date: 26-Jun-2013 [ | E-mail | Share ]

Contact: Stylianos Antonarakis stylianos.antonarakis@unige.ch 41-223-795-708 Universit de Genve

Down syndrome, more commonly known as "trisomy 21" is very often accompanied by pathologies found in the general population: Alzheimer's disease, leukemia, or cardiac deficiency. In a study conducted by Professor Stylianos Antonarakis' group from the Faculty of Medicine of the University of Geneva (UNIGE), researchers have identified the genomic variations associated with trisomy 21, determining the risk of congenital heart disease in people with Down syndrome. The targeted and specific study of chromosome 21 revealed two genomic variations, which, in combination, are the hallmark of hereditary cardiac deficiency. These results are being published in the journal Genome Research and add to other research conducted by the same team about chronic myeloid leukemia, a severe form of leukemia that often affects people with Down syndrome. The journal Blood is publishing these advances in the understanding of a disease which, like hereditary cardiac deficiencies or early Alzheimer's, affects the general population.

Heart disease is a common disorder of Down syndrome. While the presence of a third gene in the n21 pair (which characterizes the disease) increases the risk of heart disease, it is not the sole cause: genetic variationsor polymorphismsas well as certain environmental factors also contribute to it. Genetic variations create the diversity of human beings, their predispositions, and the differences in the expression of similar genes.

Variations increase the risk of hereditary cardiac deficiency

As part of a study carried out on the risk of congenital heart disease in people with Down syndrome, the geneticists led by Stylianos Antonarakis who conducts the research at UNIGE's Department of Genetic and Developmental Medicine observed the dominating role of two types of polymorphisms: the nucleotide (SNP, which stands for single-nucleotide polymorphism) and the variability in the number of copies of a gene (CNV, which stands for copy number variation).

To verify these observations, the scientists created a tailor-made chromosome 21; their analyses revealed two areas of variability in the number of copies of a gene (or CNV), and one area identified by a nucleotide polymorphism (or SNP), which can be associated with the risk of heart deficiency. Therefore, this study highlights the role of two CNVs and one SNP in the cardiac pathogenesis of people with Down syndrome for the first time, revealing the genetic complexity of a common symptom of trisomy 21.

For the geneticist-authors of this study, the genetic architecture of the risk of congenital heart disease in individuals with Down syndrome must henceforth be understood as a complex combination, revealing the 21st chromosome, nucleotide polymorphism, and variability in the number of copies of a gene all at once; three factors to which we must add to the rest of the genome a still unidentified genetic variation, which Professor Antonarakis' group is already tracking.

and also the risk of chronic myeloid leukemia

In parallel, this same group has made progress in understanding another relatively common symptom of Down syndrome, by tracking the genetic variations that identify chronic myeloid leukemia in the body's cells.

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Complex genetic architectures: Some common symptoms of trisomy 21

Recommendation and review posted by Bethany Smith