Archive for the ‘Gene Therapy Research’ Category

SEATTLE, WA--(Marketwire -06/04/12)- Atossa Genetics, Inc., a privately-held health care company focused on the prevention of breast cancer through the commercialization of diagnostic tests that can detect precursors to breast cancer, and through the research, development, and ultimate commercialization of treatments for pre-cancerous breast lesions, today announced that Steven C. Quay, M.D., Ph.D., FCAP, Chairman, President & CEO of Atossa Genetics and Director of the National Reference Laboratory for Breast Health, will conduct a workshop at Active Communications International's 5th National Breast Centers of Excellence conference, June 6-8, 2012, in Dallas, Texas.

The workshop, titled "Using Unique Molecular Tests to Grow Your Breast Center of Excellence Patient Base," will take place on Friday, June 8, from 2:15-3:15 pm Central Time. Workshop attendees will learn how to:

"I am pleased to have the opportunity to conduct a workshop on molecular tests at this prestigious event," stated Steven C. Quay, M.D., Ph.D., FCAP, Chairman, President and CEO of Atossa Genetics and Director of the National Reference Laboratory for Breast Health. "Our suite of new molecular tests can provide Breast Centers of Excellence with a unique offering to help set them apart in their local markets. By partnering with a national reference laboratory for breast health, Breast Centers of Excellence can show their commitment to best practice and can set the stage for their participation with the next generation of breast cancer prevention, intraductal pharmaceutical treatment of DCIS and related pre-cancerous lesions."

About Atossa Genetics, Inc.

Atossa Genetics, Inc. is a privately held health care company based in Seattle, Washington, that provides a comprehensive set of innovative breast health evaluation products and services that provide accurate and actionable results for personalized cancer prevention and breast health. Atossa has established the National Reference Laboratory for Breast Health, a specially equipped, CLIA-certified laboratory located in Seattle that provides comprehensive test results to guide personalized breast cancer prevention and treatment solutions.

About the National Reference Laboratory for Breast Health

The National Reference Laboratory for Breast Health, a division of Atossa Genetics, Inc., is focused on developing novel, clinically relevant tests for evaluating Breast Health in all women. The National Reference Laboratory for Breast Health, located in Seattle, Washington, is the only CLIA-registered laboratory focused exclusively on breast health. The National Reference Laboratory for Breast Health provides comprehensive test results to guide personalized breast cancer prevention and treatment solutions. For additional information on the ForeCYTE Breast Health Test and the ArgusCYTE Breast Health Test, please visit http://www.NRLBH.com.

About the Breast Center of Excellence Designation

The Breast Imaging Center of Excellence (BICOE) designation is awarded to breast imaging centers that achieve excellence by seeking and earning accreditation in all of the American College of Radiology's voluntary breast-imaging accreditation programs and modules, in addition to the mandatory Mammography Accreditation Program.

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Atossa Genetics to Participate in 5th National Breast Centers of Excellence Conference in Dallas, Texas

OMAHA, Neb.--(BUSINESS WIRE)--

Transgenomic, Inc. (TBIO) today announced the commercial launch of its ICE COLD-PCR mutation detection technology, a breakthrough technology enabling unmatched sensitivity and complete DNA mutation detection using the standard sequencing equipment already installed in laboratories around the world. The launch coincides with the 2012 annual meeting of the American Society of Clinical Oncology.

ICE COLD-PCR is capable of identifying mutation frequencies as low or lower than 0.01% which surpasses the limits of currently available mutation detection tests. This extremely high sensitivity enables detection of mutations from virtually any sample type including tissue biopsies, blood, and circulating tumor cells (CTCs). Mutation profiling from blood and CTCs may benefit cancer patients because it avoids the risks of additional surgical procedures while providing an up-to-date picture of any additional mutations the cancer may have acquired throughout treatment.

An ICE COLD-PCR kit for enrichment of KRAS mutations is now available worldwide to molecular diagnostic laboratories for use with standard DNA sequencing equipment. Transgenomic plans to expand the ICE COLD-PCR testing platform to include other therapeutically relevant mutations including BRAF, EGFR, and PIK3CA.

The broad use of ICE COLD-PCR has the potential to revolutionize cancer screening, diagnosis, monitoring, and therapy selection said Craig Tuttle, Chief Executive Officer of Transgenomic. It offers us the ability to accurately perform safer, less invasive, and more frequent assessments of a cancer and its mutations, all through a simple blood draw. Ultimately, the goal is to provide real-time monitoring of cancer progression, resistance mutations and response to therapy. With the proliferation of targeted anti-cancer drugs now available or in clinical trials, ICE COLD-PCR will help determine the right path for each patient at every step of his or her treatment, making precision medicine even more precise.

Mr. Tuttle added: ICE COLD-PCR provides extreme sensitivity and coverage to ensure that mutations are not missed, both are needed for reliable mutation profiling from blood, CTCs, and small sample sizes. Because it is used with the sequencing equipment already installed in labs around the world, we expect broad and sustained adoption of this technology, with kit sales beginning this year. Each of the markets addressed by ICE COLD-PCR diagnosis, monitoring, and disease recurrence is substantial, providing a significant value-creation opportunity for Transgenomic.

ICE COLD-PCR technology was developed in collaboration with the Dana-Farber Cancer Institute and is supported by multiple validation studies confirming reproducible mutation detection at very high sensitivity up to 1,000 times more sensitive than traditional PCR techniques. The technology is also being evaluated in an ongoing study with The University of Texas MD Anderson Cancer Center to analyze DNA isolated from CTCs.

About Transgenomic, Inc.

Transgenomic, Inc. (www.transgenomic.com) is a global biotechnology company advancing personalized medicine in cancer and inherited diseases through its proprietary molecular technologies and world-class clinical and research services. The Company has three complementary business divisions: Transgenomic Pharmacogenomic Services is a contract research laboratory that specializes in supporting all phases of pre-clinical and clinical trials for oncology drugs in development, Transgenomic Clinical Laboratories, which specializes in molecular diagnostics for cardiology, neurology, mitochondrial disorders, and oncology, and Transgenomic Diagnostic Tools which produces equipment, reagents, and other consumables that empower clinical and research applications in molecular testing and cytogenetics. Transgenomic believes there is significant opportunity for continued growth across all three businesses by leveraging their synergistic capabilities, technologies, and expertise. The Company actively develops and acquires new technology and other intellectual property that strengthen its leadership in personalized medicine.

Forward-Looking Statements

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Transgenomic Launches Breakthrough Blood-Based Cancer Gene Testing Technology at 2012 ASCO Annual Meeting

DEERFIELD, Ill.--(BUSINESS WIRE)--

Baxter International Inc. (BAX) today announced that it has entered into an exclusive global agreement with Chatham Therapeutics, LLC, an affiliate of Asklepios BioPharmaceutical, Inc. (AskBio), for the development and commercialization of potential treatments for hemophilia B utilizing Chathams gene therapy technology.

The collaboration will allow Baxter to investigate Chathams Biological Nano ParticlesTM (BNP), an advanced recombinant adeno-associated virus-(rAAV) based gene therapy technology that has shown potential therapeutic benefit in early clinical studies. A small independent study involving six patients using Chatham technology components was the topic of a 2011 article in The New England Journal of Medicine.i This agreement will involve the next generation of this gene therapy technology, which Baxter and Chatham will investigate through U.S.-based hemophilia B clinical trials. Baxter has obtained global rights for the marketing and commercialization of the new treatment.

''This collaboration demonstrates Baxters ongoing commitment to scientific innovation in advancing treatment options for patients living with hemophilia. This initiative complements Baxters extensive hemophilia portfolio and helps to address unmet needs of hemophilia patients,'' said Ludwig Hantson, Ph.D., president of Baxters BioScience business.

Baxter made a $25 million upfront cash payment for the development and advancement of the program through early clinical trials, and will record this amount as a special pre-tax in-process research and development charge in the second quarter of 2012. Baxter may make additional payments over the next several years based on certain development and commercial milestones.

''This agreement initiates a clinical development collaboration dedicated to advancing a potential long-term treatment paradigm for hemophilia patients. We look forward to working with Baxter and view this transaction as the optimal path toward providing a sustainable therapeutic to a worldwide patient population,'' said Jade Samulski, Vice President at AskBio and Co-Founder of Chatham Therapeutics.

Hemophilia B is the second most common typeof hemophilia (also known as Christmas disease) and is the result of insufficient amounts of clotting factor IX, a naturally occurring protein in blood that controls bleeding.ii Hemophilia B occurs in about one in 25,000 males, with approximately 4,000 people in the United States currently diagnosed with the disease.iii Hemophilia B is often a debilitating, chronic disease with complications that include bleeding episodes, hemophilic arthropathy (bleeding into a joint) and hospitalization.iv

Baxter is pursuing a number of research opportunities in hemophilia. The company is conducting a Phase I/III clinical trial of BAX326, a recombinant Factor IX being evaluated for the treatment of patients with hemophilia B, and expects to file for U.S. approval by the end of 2012.

About Baxter International Inc.

Baxter International Inc., through its subsidiaries, develops, manufactures and markets products that save and sustain the lives of people with hemophilia, immune disorders, cancer, infectious diseases, kidney disease, trauma and other chronic and acute medical conditions. As a global, diversified healthcare company, Baxter applies a unique combination of expertise in medical devices, pharmaceuticals and biotechnology to create products that advance patient care worldwide.

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Baxter Announces Collaboration with Chatham Therapeutics for Factor IX Hemophilia B Gene Therapy Treatment

SAN DIEGO, CA--(Marketwire -06/04/12)- Medistem Inc. (MEDS) announced today positive safety data from the first 5 patients enrolled in the Non-Revascularizable IschEmic Cardiomyopathy treated with Retrograde COronary Sinus Venous DElivery of Cell TheRapy (RECOVER-ERC) trial. The clinical trial uses the company's "Universal Donor" Endometrial Regenerative Cells (ERC) to treat Congestive Heart Failure (CHF).

According to the study design, after 5 patients enter the trial, they must be observed for a two month time period before additional patients are allowed to enter the study. Patient data was analyzed by the study's independent Data Safety Monitoring Board (DSMB), which concluded that based on lack of adverse effects, the study be allowed to continue recruitment.

"Medistem is developing a treatment for CHF that uses a 30-minute catheter-based procedure to administer the ERC stem cell into the patients' hearts. The achievement of 2 month patient follow-up with no adverse events is a strong signal for us that our new approach to this terrible condition is feasible," said Thomas Ichim, CEO of Medistem.

The RECOVER-ERC trial will treat a total of 60 patients with end-stage heart failure with three concentrations of ERC stem cells or placebo. The clinical trial is being conducted by Dr. Leo Bockeria, Chairman of the Backulev Centre for Cardiovascular Surgery, in collaboration with Dr. Amit Patel, Director of Clinical Regenerative Medicine at University of Utah.

"As a professional drug developer, I am very optimistic of a stem cell product that can be used as a drug. The ERC stem cell can be stored frozen indefinitely, does not need matching with donors, and can be injected in a simple 30-minute procedure into the heart," said Dr. Sergey Sablin, Vice President of Medistem and co-founder of the multi-billion dollar NASDAQ company Medivation.

Currently patients with end-stage heart failure, such as the ones enrolled in the RECOVER-ERC study, have no option except for heart transplantation, which is limited by side effects and lack of donors. In contrast to other stem cells, ERC can be manufactured inexpensively, do not require tissue matching, and can be administered in a minimally-invasive manner. Animal experiments suggest ERC are more potent than other stem cell sources at restoring heart function. The FDA has approved a clinical trial of ERC in treatment of critical limb ischemia in the USA.

About Medistem Inc. Medistem Inc. is a biotechnology company developing technologies related to adult stem cell extraction, manipulation, and use for treating inflammatory and degenerative diseases. The company's lead product, the endometrial regenerative cell (ERC), is a "universal donor" stem cell being developed for critical limb ischemia and heart failure. A publication describing the support for use of ERC for this condition may be found at http://www.translational-medicine.com/content/pdf/1479-5876-6-45.pdf.

Cautionary Statement This press release does not constitute an offer to sell or a solicitation of an offer to buy any of our securities. This press release may contain certain forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended. Forward-looking statements are inherently subject to risks and uncertainties, some of which cannot be predicted or quantified. Future events and actual results could differ materially from those set forth in, contemplated by, or underlying the forward-looking information. Factors which may cause actual results to differ from our forward-looking statements are discussed in our Form 10-K for the year ended December 31, 2007 as filed with the Securities and Exchange Commission.

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Medistem Achieves Important ERC Stem Cell Clinical Trial Milestone

Researchers successfully used this nanoparticle, made from several strands of DNA and RNA, to turn off a gene in tumor cells. Image: Hyukjin Lee and Ung Hee Lee

Using a technique known as nucleic acid origami, chemical engineers have built tiny particles made out of DNA and RNA that can deliver snippets of RNA directly to tumors, turning off genes expressed in cancer cells.

To achieve this type of gene shutdown, known as RNA interference, many researchers have tried with some success to deliver RNA with particles made from polymers or lipids. However, those materials can pose safety risks and are difficult to target, says Daniel Anderson, an associate professor of health sciences and technology and chemical engineering, and a member of the David H. Koch Institute for Integrative Cancer Research at MIT.

The new particles, developed by researchers at MIT, Alnylam Pharmaceuticals and Harvard Medical School, appear to overcome those challenges, Anderson says. Because the particles are made of DNA and RNA, they are biodegradable and pose no threat to the body. They can also be tagged with molecules of folate (vitamin B9) to target the abundance of folate receptors found on some tumors, including those associated with ovarian cancer one of the deadliest, hardest-to-treat cancers.

Anderson is senior author of a paper on the particles appearing in the June 3 issue of Nature Nanotechnology. Lead author of the paper is former MIT postdoc Hyukjin Lee, now an assistant professor at Ewha Womans University in Seoul, South Korea.

Genetic disruption

RNA interference (RNAi), a natural phenomenon that cells use to control their gene expression, has intrigued researchers since its discovery in 1998. Genetic information is normally carried from DNA in the nucleus to ribosomes, cellular structures where proteins are made. Short interfering RNA (siRNA) disrupts this process by binding to the messenger RNA molecules that carry DNAs instructions, destroying them before they reach the ribosome.

siRNA-delivering nanoparticles made of lipids, which Andersons lab and Alnylam are also developing, have shown some success in turning off cancer genes in animal studies, and clinical trials are now underway in patients with liver cancer. Nanoparticles tend to accumulate in the liver, spleen and lungs, so liver cancer is a natural target but it has been difficult to target such particles to tumors in other organs.

When you think of metastatic cancer, you dont want to just stop in the liver, Anderson says. You also want to get to more diverse sites.

Another obstacle to fulfilling the promise of RNAi has been finding ways to deliver the short strands of RNA without harming healthy tissues in the body. To avoid those possible side effects, Anderson and his colleagues decided to try delivering RNA in a simple package made of DNA. Using nucleic acid origami which allows researchers to construct 3-D shapes from short segments of DNA they fused six strands of DNA to create a tetrahedron (a six-edged, four-faced pyramid). A single RNA strand was then affixed to each edge of the tetrahedron.

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Researchers achieve RNA interference, in a lighter package

A recent study finds that Germans are incapable of enjoying life.

APPARENTLY, the Germans joy gene is kaput. As I scrolled down Der Spiegel online news about a week back, the headline, Study Finds Germans Incapable Of Enjoying Life, stood out.

It even trumped my original reason for trawling the website, which was to read commentaries on Bayern Munichs dismal defeat at the hands of Chelsea in the Champions League final, which I should add was (and remains) no laughing matter.

Anyway, Rheingold (a Cologne-based market research and consultancy institute) had found that 46% of Germans claim to be increasingly unable to enjoy anything due to the stress of daily life and the feeling of being constantly reachable. Fifty-five per cent of the studys younger participants even claimed to have lost their ability to feel good. The researchers concluded that, Our joy gene is increasingly defective weve forgotten how to enjoy ourselves.

While this is no scientific study, it remains an eyebrow raiser. Yet how reflective is it of reality?

I know Ive repeated myself oftentimes about the lack of spontaneity when it comes to fun pursuits like going for massages or catching up with the extended family for a mini-reunion.

The precision planning that goes into preparing for such activities, for example, often overwhelms me.

This is in stark contrast to the spur-of-the-moment adventures Ive had back home. One minute we are breakfasting on karipap sardin and kuih bom and the next minute my niece says, Shall we go to Malacca, ah? Three hours later, my sister, my niece and I were counting change at the Malacca toll plaza. We were there for only three days but returned rejuvenated and high on laughter and onde onde.

I bet if I were to float such an idea here to say, my mum-in-law, wed still be discussing logistics and the fact that it might not be such a good idea after all.

Our family reunion dates are fixed a year in advance and an activity programme is sent out to all members closer to the date via email for voting and approval. In other words, organised fun. Last minute tweaks to a finalised programme have on occasion caused consternation.

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Joy gene alert

By Makiko Kitamura and Robert Langreth - 2012-06-04T04:00:01Z

Two experimental GlaxoSmithKline Plc (GSK) drugs that block genes tied to lethal skin cancer worked better than chemotherapy in studies that tested them individually, paving the way for final-phase trials on their use together.

About 80 percent of patients with advanced melanoma given Glaxos trametinib were alive after six months, compared with 67 percent on chemotherapy used as a standard treatment. Separately, Glaxos dabrafenib delayed disease progression by 5.1 months, compared with 2.7 months for chemotherapy. The Glaxo-funded research is being reported today at the American Society of Clinical Oncology meeting in Chicago.

The individual research followed an early-stage study in 77 patients that found the drugs used together resulted in fewer skin lesions than previously reported with Roche Holding AG (ROG)s Zelboraf, a therapy cleared last year that targets a mutant gene found in half of advanced melanoma cases. Glaxo has begun two final-stage trials on the combo therapy, the company said.

The combination is where we have the most enthusiasm right now, said Keith Flaherty, director for developmental cancer therapeutics at Massachusetts General Hospital in Boston, and an author on the trametinib study. It looks better in terms of efficacy, and better in terms of safety.

The U.S. will have an estimated 76,250 new cases of melanoma this year, with 9,180 deaths, according to the National Cancer Institute. While patients with early-stage disease respond well to treatment, the five-year survival rate for those with cancer that has spread is 15 percent, according to the American Cancer Society.

Approval of the two Glaxo drugs could generate as much as 1.5 billion pounds ($2.35 billion) in 2020, said Andrew Baum, a London-based analyst at Citigroup Inc., said in a note to investors last week. The company will seek regulatory approval of both compounds individually later this year.

In an interview, Paolo Paoletti, president of the oncology unit for London-based Glaxo, said his company has begun two late-stage trials of the combination therapy in advanced skin cancer. One will compare the combination to dabrafenib alone; the other compares the combo to Roches Zelboraf.

We are rolling; the interest is so great the enrollment will be very quick, said Paoletti. If the benefits of teaming the two drugs hold up, it is a transformation. It will be a new standard of care.

Zelboraf and Glaxos dabrafenib work by blocking BRAF, a mutant gene that spurs cancer cell growth in about half of melanoma patients. Zelboraf was approved in the U.S. in August 2011. Trametinib is designed to thwart a related protein called MEK that helps tumors resist an assault on BRAF.

Link:
Glaxo Gene-Blocking Melanoma Drugs Beat Chemotherapy in Studies

ONE Capella family certainly understands the saying, "you only get out what you put in".

By adding quality genetics, the Sullivans have been able to consistently turn off a desirable product in the marketplace for years.

Dan and Helen Sullivan are joined in their operation by sons Kurt and Glen, with his wife Wendy and two children, and daughter Kate.

The home property, "Talagai", has been owned by the Sullivan family since 1951.

With the addition of their other Capella properties, "Old Malvern" and "Humberston", the Sullivans run 1400 breeders across 20,000 hectares.

The properties include a good mix of country, from open downs and open coolabah country to developed scrub country with areas of forest.

Like many producers, the Sullivans started out with Hereford cattle. During the seventies, Brahman bulls were introduced into the breeding herd, followed by Santa Gertrudis.

The Santa bulls were mated to the Brahman-cross females, producing a Droughtmaster-type animal which the Sullivans have continued breeding ever since.

Over the past 20 years the Sullivans have continued to use Droughtmaster bulls for their temperament, as well as Gelbviehs.

"The Gelbvieh bulls add length and weight into our cattle. They're terrific breeders and are very fertile cattle," Dan Sullivan said.

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Genetics focus at Capella

Hyderabad, June 2:

Picking stem cells from a patients body, sending it to a sophisticated laboratory to culture a tissue and then implanting it are pass.

A team of doctors at L.V. Prasad Eye Institute has used the tea bag or sprinkler approach to regenerate stem cells. The organisation has developed a lab-free technique that could be available off-the-shelf. This allows eye surgeons with usual facilities to perform the procedure.

The team, led by Dr Virender Singh Sangwan, used this technique to treat those who suffered chemical injuries, resulting in bleeding in the cornea.

Instead of sending stem cells to the lab for culture, the doctor picked the required number of stem cells around the cornea and sprinkled on the damaged area and then put a contact lens. In 15 days, he sees development of a good layer in the place of injured area, Prof. Balasubramanian, Head of Research at LVPEI, said.

A winner of the prestigious Shanti Swarup Bhatnagar prize, Dr Sangwan said he had conducted the procedure on about 25 patients with good results. This had been published in international scientific magazines.

He is now in the process of developing tools to help doctors.

Leber Congenital Amaurosis

Children down with the rare ocular disorders that result in gradual loss of sight can hope for a cure. Doctors are working on a gene therapy to correct this problem caused by consanguineous marriages.

Though this therapy is in vogue abroad, LVPEI says it is the first centre to carry out research on this procedure. Technically called LCA or Leber Congenital Amaurosis, doctors would refer patients to a gene analysis after studying them for indications.

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Stem cell therapy for cornea treatment

Washington, June 2 : Lean type 2 diabetes patients have a larger genetic disposition to the disease as compared to their obese counterparts, a new study has proved.

Type 2 diabetes is popularly associated with obesity and a sedentary lifestyle. However, just as there are obese people without type 2 diabetes, there are lean people with the disease.

It has long been hypothesised that type 2 diabetes in lean people is more "genetically driven".

The study, from a research team led by the Peninsula College of Medicine and Dentistry (PCMD), University of Exeter, has also identified a new genetic factor associated only with lean diabetes sufferers.

Using genetic data from genome-wide association studies, the research team tested genetic markers across the genome in approximately 5,000 lean patients with type 2 diabetes, 13,000 obese patients with the disease and 75,000 healthy controls.

The team found differences in genetic enrichment between lean and obese cases, which support the hypothesis that lean diabetes sufferers have a greater genetic predisposition to the disease.

This is in contrast to obese patients with type 2 diabetes, where factors other than type 2 diabetes genes are more likely to be responsible. In addition, genetic variants near the gene, LAMA1, were linked to type 2 diabetes risk for the first time, with an effect that appeared only in the lean patients.

"Whenever a new disease gene is found, there is always the potential for it to be used as a drug target for new therapies or as a biomarker, but more work is needed to see whether or not this new gene has that potential," John Perry, one of the lead authors of the study, said.

"This is the first time that a type 2 diabetes gene has been found to act in this way - we do not know why it should be associated in one sub-group of patients and not another.

"It could point to the fact that type 2 diabetes may not be one disease, but may represent a number of subgroups. Again, more work is required to prove this hypothesis.

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New genetic factor associated with lean diabetics identified

CHICAGO--(BUSINESS WIRE)--

Seattle Genetics, Inc. (SGEN) today announced that data from several clinical trials of ADCETRIS (brentuximab vedotin) will be presented at the 2012 American Society of Clinical Oncology (ASCO) Annual Meeting being held June 1-5, 2012 in Chicago, IL. Data demonstrate the activity and tolerability when patients are retreated with ADCETRIS, the activity and tolerability of ADCETRIS in CD30-positive non-Hodgkin lymphomas and CD30 expression from a screening protocol in non-lymphoma malignancies. ADCETRIS is an antibody-drug conjugate (ADC) directed to CD30.

Our goal is for ADCETRIS to become the foundation of therapy for CD30-positive malignancies and, to that end, we are aggressively investing in its clinical development and broadly exploring CD30 expression across numerous cancer types, said Clay B. Siegall, Ph.D., President and Chief Executive Officer of Seattle Genetics. Our data presentations at ASCO highlight the potential for ADCETRIS and reinforce our development strategy to generate data that will support stepwise growth of ADCETRIS for patients with CD30-expressing malignancies.

Retreatment with brentuximab vedotin in CD30-positive hematologic malignancies: a phase II study (Abstract #8027)

In a phase II trial, patients who previously responded to treatment with ADCETRIS, then discontinued treatment and subsequently had disease progression or relapse were eligible for retreatment. Data were reported from 24 patients treated to date on the study, including 16 with Hodgkin lymphoma (HL) and eight with systemic anaplastic large cell lymphoma (sALCL). Patients had received a median of four prior systemic therapies, including ADCETRIS. Key findings include:

Details of the poster discussion presentation are as follows:

Brentuximab vedotin for relapsed or refractory non-Hodgkin lymphoma: preliminary results from a phase II study (Abstract #8070)

In a phase II clinical trial, patients with relapsed or refractory CD30-positive non-Hodgkin lymphomas, including diffuse large B-cell lymphoma (DLBCL), peripheral T-cell lymphoma and other less common lymphoma subtypes were enrolled. The trial was designed to assess the antitumor activity, duration of response and safety profile of ADCETRIS in these patients. At the time of data analysis, 28 patients had been enrolled, including 18 with B-cell malignancies and ten with T-cell malignancies. Across all patients, the median number of prior systemic therapies was three. Key findings include:

Details of the poster presentation are as follows:

ADCETRIS is not approved for the treatment of the non-Hodgkin lymphoma subtypes described in this presentation.

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Seattle Genetics Announces ADCETRIS® Clinical Data to be Reported in Multiple Presentations at ASCO Annual Meeting

Washington, June 1 : In a recent study, a group of researchers have tried to answer why some obese people are healthier than others.

The study used genetically modified mice to investigate the genetic aspects of why some obese people do not develop certain medical problems typically associated with obesity, especially Type 2 diabetes.

"Previous research had indicated that a regulatory enzyme which is encoded by the gene PFKFB3 protects against diet-induced fat tissue inflammation and systemic insulin resistance," said Dr. Chaodong Wu of the College of Agriculture and Life Sciences - Texas A and M University System.

"Increasing evidence shows that fat deposition, or amount, is not directly associated with the inflammation or insulin resistance in the development of obesity-related metabolic diseases," he noted.

Wu said the inducible 6-phosphorofructo-2-kinase (iPFK2) enzyme links metabolic and inflammatory responses and may underlie what he refers to as "healthy" obesity.

"While many obese people develop Type 2 diabetes, heart conditions and other chronic health problems associated with being significantly overweight, other obese people do not," he said.

"And while obesity in general is not healthy, some obese people do not develop the diseases more commonly associated with a less-than-healthy diet. Furthermore, a number of thinner people may have the sort of health problems more typically associated with obesity," he explained.

Wu said he and the other researchers theorized that these diseases are associated with the cellular inflammatory response brought on by obesity.

"We also thought this gene could conceivably be targeted for use in the treatment of diabetes, especially Type 2, commonly associated with obesity. We wanted to find out what might happen to a subject if that particular gene was activated," he said.

Wu and his fellow researchers used laboratory mice to explore the effect of a targeted adipocyte overexpression of the gene/enzyme combination on diet-induced inflammatory responses and insulin sensitivity.

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How 'healthy' gene may benefit some obese people

30-05-2012 16:19 We are pleased to announce that Midwest Facial Plastic Surgery and Aesthetic Skincare is now offering LAVIV™ (Azficel-T), the first and only personalized cell therapy approved by the FDA for aesthetic use to improve the look of smile line wrinkles in adults.

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Introducing LAVIV™ (Azficel-T) personalized cell therapy - Video

31-05-2012 22:20

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-The-Possibility-of-Cell-Therapy-Video-3 - Video

Stem cell therapy may one day be used to cure disorders such as Fragile-X syndrome, or Cystic fibrosis and other genetic maladies.

Matthew Vella

The Maltese government wants the European Commission to abandon plans to provide funds for research activities on stem cells that involve "the destruction of human embryos".

In a declaration on the ethical principles for the Horizon 2020 programme, which is an 80 billion fund for the EU's programme for research and innovation to create new jobs, the Maltese government said it wanted more detailed guidelines on the bioethical principles that will guide research programmes.

Horizon 2020 will allow the financing of research on human stem cells - both adult and embryonic - as long as it is permitted by the national laws of member states.

The fund however will not finance human cloning, genetic modification, or the creation of human embryos intended for the purpose of research or stem cell procurement.

The European Commission does not explicitly solicit the use of human embryonic stem cells, but Horizon 2020 allows the use of human stem cells according to the objectives of the research, and only if it has the necessary approvals from the member states.

The Maltese declaration echoes previous statements by the Commission of Catholic Bishops of the EC (Comece), which said Horizon 2020 did not include greater protection of human embryos from stem cell research.

Malta says it does not want any such embryos to be used for stem cell research. The statement by the Maltese government said the Horizon 2020 programme "does not take sufficiently into account the therapeutic potential of human adult stem cells."

Malta wants Europe to commit to a reinforcement of research on human adult stem cells, and that Europe should abstain from financing matters of fundamental ethical principles, which differ among member states.

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Malta opposing EU financing for stem cell research on embryos

Public release date: 1-Jun-2012 [ | E-mail | Share ]

Contact: Andrew Gould andrew.gould@pcmd.ac.uk 44-018-843-8346 University of Exeter

Type 2 diabetes is popularly associated with obesity and a sedentary lifestyle. However, just as there are obese people without type 2 diabetes, there are lean people with the disease.

It has long been hypothesised that type 2 diabetes in lean people is more 'genetically driven'. A new study from a research team led by the Peninsula College of Medicine and Dentistry (PCMD), University of Exeter, which involved research institutions from around the world, has for the first time proved that lean type 2 diabetes patients have a larger genetic disposition to the disease than their obese counterparts. The study has also identified a new genetic factor associated only with lean diabetes sufferers.

The study is published in PLoS Genetics.

Using genetic data from genome-wide association studies, the research team tested genetic markers across the genome in approximately 5,000 lean patients with type 2 diabetes, 13,000 obese patients with the disease and 75,000 healthy controls.

The team found differences in genetic enrichment between lean and obese cases, which support the hypothesis that lean diabetes sufferers have a greater genetic predisposition to the disease. This is in contrast to obese patients with type 2 diabetes, where factors other than type 2 diabetes genes are more likely to be responsible. In addition, genetic variants near the gene, LAMA1, were linked to type 2 diabetes risk for the first time, with an effect that appeared only in the lean patients.

Dr. John Perry, one of the lead authors of the study, said: "Whenever a new disease gene is found, there is always the potential for it to be used as a drug target for new therapies or as a biomarker, but more work is needed to see whether or not this new gene has that potential."

He added: "This is the first time that a type 2 diabetes gene has been found to act in this way we do not know why it should be associated in one sub-group of patients and not another. It could point to the fact that type 2 diabetes may not be one disease, but may represent a number of subgroups. Again, more work is required to prove this hypothesis."

Dr. Perry concluded: "This study is a truly international one, bringing together research teams from around the world and leading UK institutions such as the University of Oxford, the University of Cambridge, King's College London, the University of Dundee and the University of Edinburgh."

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'Jack Spratt' diabetes gene identified

In a lab in Atlanta, a group of flies is sleeping fitfully. Their naps are fragmented, and their legs are twitching. Their behaviour is uncannily similar to people who have a condition called restless leg syndrome (RLS). When such people are awake, they experience uncomfortable sensations in their limbs that compel them to move to get some relief. Their sleep, which is fragmented and disturbed, is characterised by the same involuntary movements.

Theres a good reason for these similarities. Amanda Freeman from the Emory University School of Medicine has engineered the flies so that they have a faulty copy of BTBD9, a gene that has been linked to RLS in humans. The fact that they show the same constellation of symptoms strongly suggests that this gene is genuinely involved in the condition.

In 2007, two teams of scientists linked BTBD9 to the repeated limb movements that occur during RLS. A single change in the genes sequence increased the risk of such movements by more than 50 per cent, and was probably involved in around half of such cases. One of the teams wrote that the discovery provides evidence that periodic limb movements in sleep is a genuine syndrome with a detectable genetic basis. Thats important, especially since critics have suggested that many RLS cases are the product of disease-mongering by the pharmaceutical industry in order to sell more drugs.

But showing a correlation between a gene and a symptom is just the first step. You also need to work out what the gene is doing and that was unclear. The gene was switched on throughout the brain, but no one really knew what it did. Freeman has gone some way to solving that mystery, and cementing BTBD9s connection with RLS, by studying fruit flies.

Flies also have a version of BTBD9, which is also switched on throughout the nervous system. When Freeman mutated the gene so it could no longer be used, it affected how the flies slept. (Like use, flies stay still for distinct periods throughout the day, when they become unresponsive to the outside world; if theyre deprived of such bouts, they need more rest later.) Those with inactive copies of BTBD9 slept for the same amount of time as normal flies, but in fragmented bouts.

They also walked more during their sleep, moving their limbs in a way that mirrored the restlessness of people with RLS. In the video above, the flies in the blue lanes are normal, while those in the red lanes are the mutants. Note how much more active they are.

This suggests that the original human studies were pointing in the right direction, says Subhabrata Sanyal, who led the new research. However, he cautions that it is too early to say whether this gene does exactly the same things in flies and humans. The symptoms look superficially similar, but theyre not an exact match. People with RLS also rhythmically flex their feet, something that Sanyal says is virtually impossible to see in flies.

On top of that, we still understand very little about RLS as a human condition. Its diagnosis involves a questionnaire rather than a clinical test, and its still unclear if it is one syndrome with a consistent set of symptoms, or many. It is conceivable that not all RLS patients have the same disorder, says Sanyal.

This is another area where basic science could help. In humans, RLS has been linked to a lack of dopamine (a signalling chemical in the brain), and a deficiency of iron. Freeman found evidence to support both ideas. Her mutant flies had around half as much dopamine in their brains as normal ones, and they slept more soundly once she gave them a dopamine-boosting drug. In human cells, she also found that BTBD9 controls the levels of ferritin, a protein that stores and releases iron.

Its a start, and Sanyal emphasises that its a tiny step. He also wants to study the role of the gene in rodents, and he suspects that it is involved in a process called ubiquitination, where small chemicals are attached to proteins to control where they are sent and when they are destroyed. Studying [BTBD9] in much greater detail is necessary to understand exactly what it does in neurons, he says.

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Mutant flies confirm genetic link to restless legs syndrome | Not Exactly Rocket Science

AMES, Iowa, June 1, 2012 (GLOBE NEWSWIRE) -- NewLink Genetics Corporation (Nasdaq:NLNK - News) today announced results from a Phase 2 investigator-initiated study of NewLink's HyperAcute(R) Melanoma immunotherapy product candidate in combination with pegylated interferon (Sylatron, Merck). The data were published in an abstract (No:e19008) at the American Society of Clinical Oncology (ASCO) 2012 Annual Meeting being held in Chicago, IL. This is in advance of presentations scheduled for Monday, June 4th at ASCO regarding NewLink's HyperAcute Pancreas (algenpantucel-L) and HyperAcute Lung (tergenpumatucel-L) immunotherapy product candidates and IDO pathway inhibitor, NLG8189 (D-1mT) product candidate.

"Patients with metastatic melanoma have a poor outcome. We find it very encouraging that all of the patients in this study had immune responses to HyperAcute Melanoma including several patients who either had a complete objective response or have continued disease free survival after the resection of Stage III or IV disease," said Dr. Adam Riker, senior author of the abstract entitled, "Final results of a phase II immunotherapy trial for stage III and IV melanoma patients." "This promising data warrants further studies especially considering that this study employed only a short 12-week course of therapy at a relatively low dosage."

Phase 2 Study Design

Twenty-five patients (16 Stage IV patients and nine Stage III patients) with advanced melanoma were treated with 150 million cell injections weekly for 12 weeks in combination with an eight week course of pegylated interferon. Trial endpoints included clinical response, overall safety and correlative findings for observed anti-tumor effect.

Study Findings

Twenty-one of 25 patients completed the trial, with four stopping due to progressive disease. HyperAcute Melanoma was well tolerated without significant grade 3 or 4 toxicities associated with the vaccine. By RECIST criteria, of 16 stage IV patients there were two complete responders (CR), two with stable disease and three with no evidence of disease (NED) after resection. Among stage III patients, 3/9 remain disease free and one patient with slowly progressive disease remained alive for more than 30 months. The median overall survival in the study was 29 months, with 50% of the patients surviving for two years and 12/25 (48%) still alive. The anti-alpha-Gal antibody values increased after vaccination in 24/25 patients by up to 100-fold. All evaluable patients seroconverted, developing asymptomatic autoimmune antibodies. Anti-tyrosinase antibodies developed in seven of 23 patients correlating with one CR and one patient NED. Vitiligo developed in 4/25 patients, correlating with two complete responses and two patients stable continuing with no evidence of disease.

"The presence of vitiligo and durable complete responses provide further evidence for clinical activity of HyperAcute Melanoma ," said Dr. Nicholas Vahanian, President and Chief Medical Officer of NewLink Genetics and added "We look forward to further evaluating our HyperAcute Melanoma immunotherapy in combination with recently approved anti-melanoma agents in additional advanced clinical studies."

"We believe that lessons we are learning from trials employing our proprietary HyperAcute technology in patients with lung and pancreatic cancer can be incorporated into improved study designs for patients with melanoma as we attempt to build upon these initial provocative clinical findings," stated Dr. Charles Link, CEO and Chief Scientific Officer of NewLink Genetics.

About HyperAcute Melanoma

New Link Genetics' HyperAcute Melanoma product candidate consists of a group of three allogeneic melanoma tumor cell lines that were modified to express the gene that makes alpha-GT. These three cell lines each possess collections of known melanoma antigens so that the immune response they stimulate will provide broad coverage. Each of the modified cell lines is grown separately in large cultures, then harvested, irradiated and packaged. Approximately 50 million cells of each HyperAcute Melanoma cell line are given by intradermal injection with each treatment.

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Data From an Investigator-Initiated Phase 2 Study of NewLink Genetics' HyperAcute(R) Melanoma Immunotherapy Published ...

NEW YORK, May 31, 2012 (GLOBE NEWSWIRE) -- NeoStem, Inc. (NYSE Amex:NBS) ("NeoStem" or the "Company"), an international biopharmaceutical company focused on cell based therapies, announced today that Company management will present at six conferences in June.

International Society for Cellular Therapy Annual Meeting

National Investment Banking Association Conference

International Society for Stem Cell Research 10th Annual Meeting

The Biotechnology Industry Organization (BIO) International Conference

Alliance for Regenerative Medicine -- Clinical Outlooks for Regenerative Medicine 2012

Marcum's Inaugural MicroCap Conference

About NeoStem, Inc.

NeoStem, Inc. ("NeoStem") is a leader in the development and manufacture of cell therapies. NeoStem has a strategic combination of revenues, including that which is derived from the contract manufacturing services performed by Progenitor Cell Therapy, LLC, a NeoStem company. That manufacturing base is one of the few cGMP facilities available for contracting in the burgeoning cell therapy industry, and it is the combination of PCT's core expertise in manufacturing and NeoStem's extensive research capabilities that positions the company as a leader in cell therapy development. Amorcyte, LLC, also a NeoStem company, is developing a cell therapy for the treatment of cardiovascular disease. Amorcyte's lead compound, AMR-001, represents NeoStem's most clinically advanced therapeutic and is enrolling patients in a Phase 2 trial for the preservation of heart function after a heart attack. Amorcyte expects to begin a Phase 1 clinical trial in 2012/2013 for AMR-001 for the treatment of patients with congestive heart failure. Athelos Corporation, also a NeoStem company, is developing a T-cell therapy for a range of autoimmune conditions with its partner Becton-Dickinson. NeoStem's pre-clinical assets include its VSEL(TM) Technology platform for regenerative medicine, which NeoStem believes to be an endogenous, pluripotent, non-embryonic stem cell that has the potential to change the paradigm of cell therapy as we know it today.

For more information on NeoStem, please visit http://www.neostem.com.

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NeoStem to Present at Six Conferences in June

30-05-2012 20:45 Shake It Up Australia and The Michael J. Fox Foundation (MJFF) today announced the first of up to $3 million worth of Australian research grants to help find a cure for Parkinson's disease. The research will explore the potential link between the immune system and the gene LRRK2 in people with Parkinson's disease. Scientists believe mutations in this protein could be the most common hereditary genetic cause of PD identified to date. World-leading Sydney medical researcher Prof Glenda Halliday and her co-researcher, Dr Nic Dzamko have been awarded $150000 to study how immune cells detect and respond to inflammatory stimuli and whether LRRK2 is involved.

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Shake It Up Australia Foundation funds first research grant for Parkinsons.mp4 - Video

CAMBRIDGE, Mass.--(BUSINESS WIRE)--

bluebird bio, a world leader in the development of innovative gene therapies for severe genetic disorders, today announced that John Maraganore, Ph.D., has joined the companys board of directors. Dr. Maraganore has more than 25 years of experience in research and development and is the chief executive officer of Alnylam Pharmaceuticals, a leader in RNAi therapeutics.

We welcome Johns extensive biotech experience during this pivotal time in the companys growth and development, said Nick Leschly, chief executive officer of bluebird bio. Johns broad strategic, finance and deal-making experience will be invaluable as we build upon our late stage clinical programs and advance our corporate development strategy.

Prior to joining Alnylam in 2002, Dr. Maraganore served as an officer and a member of the management team for Millennium Pharmaceuticals, Inc. As senior vice president, strategic product development for Millennium, Dr. Maraganore was responsible for the company's product franchises in oncology, cardiovascular, inflammation and metabolic diseases. He was previously vice president, strategic planning and M&A, and prior to that, he was general manager of Millennium BioTherapeutics, Inc., a former subsidiary of Millennium. Before Millennium, he served as director of molecular biology and director of market and business development at Biogen, Inc. (now Biogen Idec, Inc.). At Biogen, Dr. Maraganore invented and led the discovery and development of Angiomax (bivalirudin for injection, formerly Hirulog), currently marketed by The Medicines Company. Prior to Biogen, Dr. Maraganore was a scientist at ZymoGenetics, Inc., and The Upjohn Company. Dr. Maraganore received his M.S. and Ph.D. in biochemistry and molecular biology at the University of Chicago. He is chairman of Regulus Therapeutics, LLC, and a director for Agios Pharmaceuticals and Tempero Pharmaceuticals. In addition, he is an advisor to Third Rock Ventures, a member of the Immunology Advisory Council of Harvard Medical School and a member of the Biotechnology Industry Organization Board.

I am excited to join bluebird bios board and work with their expert team to capitalize on the significant recent advances they have made with the companys scientific platform, manufacturing capabilities and lead clinical development programs, said Dr. Maraganore. Gene therapy has the potential to become a key new therapeutic modality, and the clinical data continue to be very impressive. My sense is that bluebird bio is uniquely positioned to meet the significant treatment void for many patients with devastating diseases in a way that can be truly transformative and commercially deployable.

About bluebird bio

bluebird bio is developing innovative gene therapies for severe genetic disorders. At the heart of bluebird bios product creation efforts is its broadly applicable gene therapy platform for the development of novel treatments for diseases with few or no clinical options. The companys novel approach uses stem cells harvested from the patients bone marrow into which a healthy version of the disease-causing gene is inserted. bluebird bios approach represents a true paradigm shift in the treatment of severe genetic diseases by eliminating the potential complications associated with donor cell transplantation and presenting a one-time potentially transformative therapy. bluebird bio has two later stage clinical products in development for childhood cerebral adrenoleukodystrophy (CCALD) and beta-thalassemia/sickle cell anemia. Led by a world-class team, bluebird bio is privately held and backed by top-tier life sciences investors, including Third Rock Ventures, TVM Capital, ARCH Venture Partners, Forbion Capital Partners, Easton Capital and Genzyme Ventures. Its operations are located in Cambridge, Mass. and Paris, France. For more information, please visit http://www.bluebirdbio.com.

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John Maraganore, Ph.D., Joins the bluebird bio Board of Directors

Public release date: 31-May-2012 [ | E-mail | Share ]

Contact: Holly Korschun hkorsch@emory.edu 404-727-3990 Emory University

Scientists have discovered that mutations in the gene BTBD9, which is linked with restless legs syndrome (RLS) in humans, disturb sleep in fruit flies. The mutant flies wake up more often during sleep periods, which resembles a key feature of human RLS.

The same mutations in BTBD9 also reduce levels of the neurotransmitter dopamine in the flies. Some kind of deficiency in dopamine signaling is thought to lie behind RLS in humans.

The results are published in the journal Current Biology.

"Flies and humans are distant from each other on the evolutionary tree, yet the same gene seems to be regulating a fundamental process in both organisms and affecting how soundly they sleep," says senior author Subhabrata Sanyal, PhD, assistant professor of cell biology at Emory University School of Medicine.

People with RLS experience unpleasant sensations in their legs and urges to move them, interfering with the ability to sleep. Genetics plays a major role in RLS, and most people with RLS have a close family member with the disorder. A variant in the BTBD9 gene accounts for about half of the risk for RLS in the population, according to multiple genetic studies (http://1.usa.gov/LqrO5L).

While medications exist to treat RLS, in some patients they are ineffective or have side effects. Researchers don't have a good understanding of what is going wrong in the nervous system in people affected by RLS, or what the BTBD9 gene does. Studying the fly version of BTBD9 could shed light on the basic biology and eventually lead to improved treatments for humans.

Postdoctoral fellow Amanda Freeman, the first author of the paper, examined flies' sleep behavior by putting individual flies into tubes with infrared sensors, which can detect when a fly moves across the middle of the tube. If a fly doesn't cross the beam for five minutes, it's considered asleep. She found that the BTBD9 mutant flies woke up more often during the night.

Disabling BTBD9 also makes flies more mobile while awake. Mutant flies confined in a tube move back and forth more often, leading Freeman and Sanyal to dub the mutant flies "wanderlust."

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Restless legs syndrome in fruit flies: Mutation in fly version of a human RLS gene disturbs sleep

ScienceDaily (May 31, 2012) Why is it that some obese people are healthier than others? This was one of the main questions Dr. Chaodong Wu of the College of Agriculture and Life Sciences -- Texas A&M University System -- and a group of researchers tried to answer in a recent study.

The study, which will appear in a July issue of the Journal of Biological Chemistry, used genetically modified mice to investigate the genetic aspects of why some obese people do not develop certain medical problems typically associated with obesity, especially Type 2 diabetes.

Wu noted that Xin Guo, a Ph.D. candidate in the college's department of nutrition and food sciences, contributed significantly to the study.

"Previous research had indicated that a regulatory enzyme which is encoded by the gene PFKFB3 protects against diet-induced fat tissue inflammation and systemic insulin resistance," said Wu, who also has a Texas AgriLife Research appointment. "Increasing evidence shows that fat deposition, or amount, is not directly associated with the inflammation or insulin resistance in the development of obesity-related metabolic diseases."

Wu said the inducible 6-phosphorofructo-2-kinase (iPFK2) enzyme links metabolic and inflammatory responses and may underlie what he refers to as "healthy" obesity.

"While many obese people develop Type 2 diabetes, heart conditions and other chronic health problems associated with being significantly overweight, other obese people do not," he said. "And while obesity in general is not healthy, some obese people do not develop the diseases more commonly associated with a less-than-healthy diet. Furthermore, a number of thinner people may have the sort of health problems more typically associated with obesity."

Wu said he and the other researchers theorized that these diseases are associated with the cellular inflammatory response brought on by obesity.

"We also thought this gene could conceivably be targeted for use in the treatment of diabetes, especially Type 2, commonly associated with obesity," he said. "We wanted to find out what might happen to a subject if that particular gene was activated."

Wu and his fellow researchers used laboratory mice to explore the effect of a targeted adipocyte overexpression of the gene/enzyme combination on diet-induced inflammatory responses and insulin sensitivity.

"We were trying to find out what it is in adipose, or fat, tissue that may trigger a negative response that leads to disease -- and how to modulate that response," he said. "In our study, we learned overexpression of the iPFK2 enzyme increases fat deposition, suppresses inflammatory responses and improves insulin sensitivity in both adipose and live tissues."

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Is there a 'healthy' obesity gene?

30-05-2012 10:32 Nicolas H. Zech, Congress President Where to next for PGD? From polar body to blastocyst -- the evolving genome Dear Colleagues! On behalf of the Preimplantation Genetic Diagnosis International Society (PGDIS) we take great pleasure in inviting you to our biannually held 11th International Conference in Bregenz, Austria. The PGD Conference will address a much wider range of topics than PGD, as the recent developments in related areas may soon move PGD from a research tool to the basic procedure in reproductive medicine and genetic practices. First of all, the recent application of microarray technology and next generation sequencing may clearly improve the accuracy of PGD for genetic and chromosomal disorders, so array-CGH, SNP arrays, genome wide analysis and next generation sequencing for single cell analysis will be one of the major topics of the Conference. In addition some related theoretical issues, such as molecular aspects of meiosis and cell fate in the preimplantation embryo will be also addressed. On the other hand, because of increasing importance of clinical aspects of PGD, a number of Workshops will be organized on advance topics in clinical PGD, as well as a few debates on controversial issues in PGD, such as the optimal stage for performing biopsy procedures and reproductive outcome of preimplantation aneuploidy testing, prior to and after the application of 24-chromosome analysis, currently performed in a few dozens of thousands of cycles. As PGD is still ...

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11th International Conference on Preimplantation Genetics Diagnosis Welcome remarks Nicolas H. Zech - Video

Public release date: 31-May-2012 [ | E-mail | Share ]

Contact: Erin Tornatore erin.tornatore@childrens.harvard.edu 617-919-3110 Children's Hospital Boston

Boston, Mass. Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital has identified the genetic basis for CLOVES syndrome, a rare congenital malformation and overgrowth disorder.

The discovery raises the hope that, for the first time, it will be possible to develop targeted medical treatments capable of delaying, reversing or possibly preventing CLOVES's debilitating consequences. Importantly, it also demonstrates the potential of advanced DNA sequencing technologies for identifying the underlying molecular roots of malformation disorders that are genetic but not hereditary.

The teamled by Matthew Warman, MD, director of the Orthopedic Research Laboratories at Boston Children's, and Kyle Kurek, MD, of the hospital's department of Pathology, and members of the hospital's Vascular Anomalies Centerreported the discovery today in the online edition of the American Journal of Human Genetics.

Some 90 children worldwide have been diagnosed with CLOVES (which stands for Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevis, Spinal/skeletal anomalies/scoliosis) since 2006, when the condition was first characterized by Boston Children's Ahmad Alomari, MD, and investigators at the National Institutes of Health. Alomari co-directs the Vascular Anomalies Center with Steven Fishman, MD, and John Mulliken, MD; all three are authors on the paper.

The clinical features of CLOVESin general a combination of fatty growths in the torso, vascular and skin anomalies, overgrowth in or deformities of limbs or extremities and spinal problems such as scoliosiscan vary greatly from child to child. Presently there is no cure for CLOVES, only surgical treatments aimed at alleviating symptoms or managing the syndrome's progression.

Until now, the exact nature of the genetic defect or defects that cause CLOVES has remained a mystery.

"CLOVES is dynamic, presenting itself in new ways all the time, even within the same patient," said Fishman, who with Alomari and others in the Vascular Anomalies Center has treated numerous children with CLOVES. "With this discovery we are optimistic that it will now be possible to develop treatments that take less of a shotgun approach and which could prevent the syndrome's progression."

The researchers started from the assumption that CLOVES is genetic but not inherited, because the syndrome always appears sporadically and is never passed from affected parents to their children; nor do the parents of affected children show signs of the syndrome.

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Researchers at Boston Children's Hospital identify a genetic cause for CLOVES syndrome