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Study suggests different organ-derived stem cell injections improve heart function

Public release date: 27-Nov-2012 [ | E-mail | Share ]

Contact: Robert Miranda cogcomm@aol.com Cell Transplantation Center of Excellence for Aging and Brain Repair

Putnam Valley, NY. (Nov. 27, 2012) A study published in the current issue of Cell Transplantation (21:8), now freely available on-line at http://www.ingentaconnect.com/content/cog/ct/, has found that when mesenchymal cells derived from skeletal muscle (SM-MSCs) or adipose tissue (ADSCs) were injected into the heart muscle (myocardium) of separate groups of laboratory rats that had suffered a myocardial infarction, rats in both groups experienced significantly improved left ventricle function and smaller infarct size after cell therapy.

The study, carried out by researchers at Oslo University Hospital and the Norwegian Center for Stem cell Research, Oslo University, sought to determine if MSCs from different organs would result in different functional outcomes.

"Despite advances in revascularization and medical therapy, acute myocardial infarction (AMI) and heart failure are still important causes of morbidity and mortality in industrialized countries," said study co-author Dr. Jan E. Brinchmann of the Norwegian center for Stem Cell Research at Oslo University Hospital, Oslo. "AMI leads to a permanent loss of contractile elements in the heart and the formation of fibrous scarring. Regeneration of contractile myocardium has been a target of cell therapy for more than a decade."

According to Dr. Brinchmann, MSCs tolerate hypoxia, secrete angiogenic factors and have been shown to improve vascularization; thus, they have properties suggesting that they may beneficially impact AMI, chronic heart failure and angina pectoris after cell transplantation. Following injection into the "border zone" and infarct area of immunodeficient rats one week after induced myocardial infarction, the researchers used echocardiography to measure myocardial function and other analyses to measure the size of scaring, density of blood vessels in the scar, and the health of myocardial tissues.

"Our results showed that intramyocardial injection of both ADSCs and SM-MSCs one week after AMI led to a substantial decrease in infarct size and a significant improvement in left ventricle function when compared with injections of cell culture medium alone," concluded the authors. "There was a trend toward better functional improvement in the SM-MSC group when compared to the ADSC group, but this did not reach significance."

They concluded that many questions remain unanswered, including the question of whether MSCs isolated from different organisms could result in different functional outcomes. Other unanswered questions relate to the optimal time delay between the onset of myocardial infarction and injection of MSCs. These cells do, however, still appear to be "a potentially interesting adjuvant treatment modality for selected patients following acute myocardial infarction," they concluded.

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Contact: Dr. Jan E. Brinchmann, Norwegian Center for Stem Cell Research, Institute of Basic Medical Sciences, Oslo University Hospital Rikshospitalet and University of Oslo, PO Box 1121 Blindern 0317 Oslo, Norway. Tel. +42-22-84-04-89 Fax. +42-22- 85-10-58 Email: jan.brinchmann@rr.research.no

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Study suggests different organ-derived stem cell injections improve heart function

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Different organ-derived stem cell injections improve heart function in rats

Washington, November 28 (ANI): When mesenchymal cells derived from skeletal muscle (SM-MSCs) or adipose tissue (ADSCs) were injected into the heart muscle (myocardium) of separate groups of laboratory rats that had suffered a myocardial infarction, rats in both groups experienced significantly improved left ventricle function and smaller infarct size after cell therapy, a study has found.

The study, carried out by researchers at Oslo University Hospital and the Norwegian Center for Stem cell Research, Oslo University, sought to determine if MSCs from different organs would result in different functional outcomes.

"Despite advances in revascularization and medical therapy, acute myocardial infarction (AMI) and heart failure are still important causes of morbidity and mortality in industrialized countries," said study co-author Dr. Jan E. Brinchmann of the Norwegian center for Stem Cell Research at Oslo University Hospital, Oslo.

"AMI leads to a permanent loss of contractile elements in the heart and the formation of fibrous scarring. Regeneration of contractile myocardium has been a target of cell therapy for more than a decade," he added.

According to Dr. Brinchmann, MSCs tolerate hypoxia, secrete angiogenic factors and have been shown to improve vascularization; thus, they have properties suggesting that they may beneficially impact AMI, chronic heart failure and angina pectoris after cell transplantation.

Following injection into the "border zone" and infarct area of immunodeficient rats one week after induced myocardial infarction, the researchers used echocardiography to measure myocardial function and other analyses to measure the size of scaring, density of blood vessels in the scar, and the health of myocardial tissues.

"Our results showed that intramyocardial injection of both ADSCs and SM-MSCs one week after AMI led to a substantial decrease in infarct size and a significant improvement in left ventricle function when compared with injections of cell culture medium alone," concluded the researchers.

"There was a trend toward better functional improvement in the SM-MSC group when compared to the ADSC group, but this did not reach significance," they added.

They concluded that many questions remain unanswered, including the question of whether MSCs isolated from different organisms could result in different functional outcomes.

Other unanswered questions relate to the optimal time delay between the onset of myocardial infarction and injection of MSCs. These cells do, however, still appear to be "a potentially interesting adjuvant treatment modality for selected patients following acute myocardial infarction," they concluded.

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Different organ-derived stem cell injections improve heart function in rats

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Professors Critique Stem Cell Medical Tourism

A panel at the Harvard Law School Wednesday discussed the ethical debate over the use of embryonic stem cells in the United States, focusing on the burgeoning controversy surrounding the role of stem cell therapy in medical tourism.

Medical tourism, in which patients travel internationally to gain access to specific health care services, has become increasingly common, panelists said. They said that reasons for medical tourism range from basic hip replacement surgery to black market organ sales. As most stem cell therapies are not approved in the United States, numerous patients are going abroad to countries like China and Russia where treatment is legal.

Panelist I. Glenn Cohen, an assistant professor at the Law School, said that it was probable that a Chinese stem cell facility performs several hundred thousand of these treatments yearly. He said that numerous celebrities, including football quarterback Peyton Manning, have reportedly traveled abroad to receive stem cell treatment not approved by the FDA.

A number of facilities claim to use stem cells to cure a wide array of diseases. University of Alberta law professor Timothy Caulfield, another panelist, pointed out that a simple Google search leads potential patients to a plethora of websites which claim that diseases such as autism and cancer can be cured through stem cell therapy.

Its being offered as routine, its being offered as safe, its being offered as effective, Caulfield said, citing his own 2008 study on the subject, Of course, none of them being offered matched what the scientific literature said.

According to American history professor Jill Lepore, the hyper-acceleration of enthusiasm for stem cell therapy is reminiscent of a century ago when science journalism and government funding for science research began to blossom. Lepore pointed out how public excitement over scientific procedures has affected society in the past, popularizing cryonics research and the work of Eugene Steinach, who claimed his vasectomy operation reversed the aging process.

Panelists said that one issue with stem cell tourism is the number of health risks associated with such procedures, citing a number of instances where stem cell therapy caused serious harm.

They also noted that public discussion about stem cell therapy has been markedly positive, lending an air of legitimacy to stem cell therapy that hasnt been validated by research.

Articles criticizing stem cell tourism, on the other hand, have generally received a less favorable response. Caulfield told the audience that when he co-wrote an article in The Atlantic criticizing stem cell therapy, he was accused as being a nutball Canadian socialist bioethicist.

The panelists emphasized that more accurate information should be provided to the public regarding stem cell treatments.

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First success of targeted therapy in most common genetic subtype of non-small cell lung cancer

ScienceDaily (Nov. 28, 2012) A new study by an international team of investigators led by Dana-Farber Cancer Institute scientists is the first to demonstrate that chemotherapy and a new, targeted therapy work better in combination than chemotherapy alone in treating patients with the most common genetic subtype of lung cancer.

Published online November 28 in The Lancet Oncology, the combination of chemotherapy and the targeted drug selumetinib was more effective than chemotherapy alone in a clinical trial involving patients with a form of non-small cell lung cancer (NSCLC) that carries a mutation in the gene KRAS -- a variety that represents about 20 percent of all NSCLC cases. Previously, no targeted agent, either alone or in combination with another drug, had proven beneficial in a trial involving patients with this type of NSCLC.

The 87 patients who participated in the new, phase II trial -- conducted at 67 sites around the world -- had advanced, KRAS-mutant NSCLC that had failed initial chemotherapy. The participants were randomly assigned to receive either selumetinib and the chemotherapy agent docetaxel or docetaxel alone.

Investigators found that while 37 percent of the patients in the selumetinib group experienced some shrinkage of their tumor, none of the patients in the docetaxel-only group did. Of particular significance, patients receiving selumetinib lived a median of 5.3 months before their cancer began to worsen, compared to 2.1 months for those receiving chemotherapy alone. (Patients in the selumetinib group also survived longer, on average, than those in the docetaxel group -- 9.4 months compared to 5.2 months -- but the improvement was not considered statistically significant.)

"Our findings suggest that selumetinib and docetaxel work synergistically -- each enhancing the effect of the other," says the study's lead author, Pasi A. Jnne, MD, PhD, of Dana-Farber. "This opens the possibility that there may finally be a therapeutic strategy using a targeted therapy which could be clinically effective in this population of KRAS-mutant lung cancer patients."

Some side effects, including neutropenia (a white blood cell deficiency), neuropenia plus fever, shortness of breath, and loss of strength, were more common in the selumetinib group than the other. Researchers and physicians will need to work on ways of managing these problems with patients, Jnne said.

NSCLC tumors with KRAS mutations are more common in current and former smokers than in those who have never smoked, and occur at a higher rate in Caucasians than in others. The study findings are especially noteworthy because mutated KRAS -- regardless of the type of tumor it appears in -- has been one of the most difficult genes to block with targeted therapies.

Selumetinib circumvents that problem by targeting not KRAS itself, but one of the gene's co-conspirators, a protein called MEK that is indirectly activated by KRAS.

"The opportunity now is to validate this approach in further clinical trials so it can be developed into a real therapy for patients," Jnne remarks. "Given that KRAS mutations are common in other cancers (found in 90 percent of pancreatic cancers and 40 percent of colon cancers), our findings may be useful in developing therapies for patients with these cancers as well."

The co-authors of the study are Alice Shaw, MD, of Massachusetts General Hospital; Jos Rodrigues Pereira, MD, of Instituto Brasileiro de Cancerologia Torcica, in Sao Paulo, Brazil; Galle Jeannin, MD, of Hpital Gabriel Montpied, in Clermont-Ferrand, France; Johan Vansteenkiste, MD, of University Hospital Gasthuisberg, in Leuven, Belgium; Carlos Barrios, MD, of PUCRS School of Medicine in Porto Alegre, Brazil; Fabio Andre Franke, MD, of Hospital de Caridade de Ijui, in Iju, Brazil; Victoria Zazulina, MD, Paul Smith, PhD, Ian Smith, MD, and Lynda Grinsted, of AstraZeneca UK, in Macclesfield, United Kingdom; and Lucio Crin, MD, of Hospital S Maria della Misericordia, in Perugia, Italy.

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First success of targeted therapy in most common genetic subtype of non-small cell lung cancer

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Nuvilex Continues Advancements in Diabetes Research

SILVER SPRING, Md. and SALZBURG, Austria, Nov. 28, 2012 (GLOBE NEWSWIRE) -- Nuvilex, Inc. (NVLX), an international biotechnology provider of cell and gene therapy solutions, announced today that its partner gave a presentation at the 40th Annual Conference of the Austrian Diabetes Society (ODG) based on the successful animal model studies for treating diabetes using the Company's proprietary cell encapsulation technology.

The three day event held in November at the Salzburg Congress Center in Salzburg, Austria, hosted an international group of researchers working on treatments for diabetes. Dr. Eva Brandtner, our partner who made the presentation at the meeting, is presently working at the Vorarlberg Institute for Vascular Investigation and Treatment (VIVIT) located in Feldkirch, Austria. She continues to maintain close ties to and is collaborating with Austrianova Singapore (ASPL) and Nuvilex to help advance the diabetes treatment. Dr. Brandtner, formerly Chief Scientist at ASPL before moving back to her native Austria, presented the study data on the use of pancreatic islet cells encapsulated using the Company's proprietary technology for the treatment of diabetes that was completed when she was working at ASPL.

Dr. Brian Salmons, CEO of ASPL said, "We are pleased Dr. Brandtner was invited to give a presentation at this prestigious event. She is a recognized expert in this field and we are very excited to be able to continue working together with Dr. Brandtner and VIVIT to develop new treatments for diabetes."

The Chief Executive of Nuvilex, Dr. Robert Ryan, stated: "Dr. Brandtner's presentation at this important diabetes event in Austria underscores our commitment to novel cell encapsulation based treatments for diabetes. The market potential for such a therapeutic is enormous, still growing dramatically worldwide, and we see the value for patients as priceless."

About Nuvilex

Nuvilex, Inc. (NVLX) is an international biotechnology provider of live therapeutically valuable, encapsulated cells and services for research and medicine. Important advances are moving Nuvilex and Austrianova Singapore forward. New developments by our companies will be substantial as we have been working on many fronts to move us forward. Our company's clinical offerings will include cancer, diabetes and other treatments using the company's cell and gene therapy expertise and live-cell encapsulation technology.

The Nuvilex, Inc. logo is available at http://www.globenewswire.com/newsroom/prs/?pkgid=13494

Safe Harbor Statement

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

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Nuvilex Continues Advancements in Diabetes Research

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Penn Scientist Named First Director of New Center for Orphan Disease Research and Therapy

PHILADELPHIA H. Lee Sweeney, Ph.D., the William Maul Measey Professor at the Perelman School of Medicine, University of Pennsylvania, has been named the inaugural director of Penns Center for Orphan Disease Research and Therapy. The primary mission of the Center is to expedite the translational science and development of novel therapies for rare and orphan diseases. The Center will achieve this by promoting innovative translational research and therapeutic strategies, building on partnerships among investigators, academic institutions, patients and advocacy groups, industry and funding agencies.

Formation of the new Center was catalyzed by a $10 million gift from an anonymous donor in July 2011. The Center fills a crucial need by providing the core laboratories, techniques, collaborative relationships, and expertise to lead an international, coordinated effort in the eradication of orphan diseases.

Diseases are classified as orphan, or rare, when they affect fewer than 200,000 people. However, as there are approximately 7,000 diseases now identified in this population, more than 25 million Americans are currently afflicted. Many of these diseases are caused by genetic mutations and are diagnosed in children. Research in many orphan diseases has lagged behind other major disease categories, such as diabetes and cardiovascular disease, in part because of a relative lack of technical expertise and funding mechanisms. Penn's Center will specifically address these needs.

I am pleased to name Dr. Sweeney as the first director of the Center for Orphan Disease Research and Therapy, says J. Larry Jameson, M.D., Ph.D., Executive Vice President for the Health System and Dean of the Perelman School of Medicine. The Center is a natural extension of Penn's expertise in the pathogenesis and treatment of rare diseases. With his decades of experience in basic biomedical research, work with families, and involvement with biotech firms and the federal government, Dr. Sweeney is an especially appropriate choice to lead the Center.

I feel that I have been preparing for this position for the past 15 years in my work with the neuromuscular disease community, says Sweeney. I look forward to expanding my experiences to a broader range of orphan diseases.

For much of his career, Sweeney, chair of the Department of Physiology until June 2013, a position he has held since 1999, has studied the mechanisms that help control muscle function with the hope of gaining a better understanding of ways to thwart muscle deterioration caused by age and degenerative diseases and to promote muscle growth. Sweeney has also directed the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center at Penn since 2005.

Sweeneys research includes the study of animal models of Duchenne muscular dystrophy, a rapid muscle degenerative disease that can lead to muscle weakness, including the heart and diaphragm, ultimately limiting life expectancy. His research team at Penn studies both small molecule and gene therapy approaches to help treat genetic diseases and to validate possible therapeutic targets. He led a team of researchers who showed that a new drug called PTC124 could override a genetic mutation causing muscle degeneration in DMD mice without causing apparent side effects. PTC124, developed by PTC Therapeutics, a small biotech firm in NJ, in collaboration with Sweeneys lab, is currently in clinical trials with DMD and cystic fibrosis patients. For this body of work, Sweeney received a Hamdan Award for Medical Research Excellence from Sheikh Hamdan of Dubai in 2008.

He also serves as the Scientific Director of the Parent Project Muscular Dystrophy, an advocacy group whose mission is to end Duchenne muscular dystrophy and is actively involved in lobbying Congress for funding in the area of neuromuscular diseases.

The author of more than 180 papers and reviews that have more than 16,000 cumulative citations, Sweeney is a Fellow of the American Heart Association and a recipient of the Perelman Schools Stanley N. Cohen Biomedical Research Award. Sweeney has served on the advisory council of the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Currently, he is a member of the Committee on Neuromuscular Disease of the Association Franaise contre les Myopathies and of NIHs Skeletal Muscle and Exercise Physiology Study Section.

Sweeney is an alumnus of the Massachusetts Institute of Technology (S. B., Biology / Biochemistry). He earned both his A.M. degree in physiology and his doctorate in physiology and biophysics from Harvard University. After a year as a research instructor in physiology at the University of Texas Southwestern Medical School, he spent four years as assistant professor at the University of Texas at Austin. Dr. Sweeney joined the University of Pennsylvania in 1989 as assistant professor of Physiology. In 1998, he became professor of Physiology, with secondary appointments in Medicine (Division of Cardiology) and Surgery; in 2005, he added a secondary appointment in Pediatrics.

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Gene discovered that decides whether to 'switch on' immune system and could control HIV

Gene, called Arih2, makes decides whether to switch on the immune response to an infection Researchers are looking at the effect on the immune response of switching gene off for short periods Say it has potential to help treat chronic conditions

By Daily Mail Reporter

PUBLISHED: 09:58 EST, 27 November 2012 | UPDATED: 10:50 EST, 27 November 2012

A newly discovered gene could hold the key to treating and potentially controlling chronic infections such as HIV, hepatitis and tuberculosis.

The gene, called Arih2, is essential for embryo survival. Now scientists have found it controls the function of the immune system making critical decisions about whether to switch on the immune response to an infection.

It could help in the development of treatments for infections that 'overwhelm' the immune system like HIV as well as conditions that cause chronic inflammation such as rheumatoid arthritis.

Dr Marc Pellegrini (left) and Dr Greg Ebert were part of a research team that discovered a gene which is essential to the immune response to infection

The gene was discovered in dendritic cells by a team from the Walter and Eliza Hall Institute in Australia. These cells act as an early warning system raising the alarm if they detect foreign invaders.

'Arih2 is responsible for the most fundamental and important decision that the immune system has to make - whether the immune response should be initiated and progressed or whether it should be switched off to avoid the development of chronic inflammation or autoimmunity,' research leader Dr Marc Pellegrini, said.

'If the wrong decision is made, the organism will either succumb to the infection, or succumb to autoimmunity.'

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Gene discovered that decides whether to 'switch on' immune system and could control HIV

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Gene scan can detect cancer risk

RESEARCH: Rebecca Grealy is studying influence of genes in skin cancer. Picture: Jerad Williams Source: The Courier-Mail

NEW research, set to be unveiled on the Gold Coast today, has revealed a person's genes contribute to the development and severity of non-melanoma skin cancer.

Griffith University PhD student Rebecca Grealy has led the five-year study that shows a person's genes can influence whether they get skin cancer and how susceptible they are to damage. Targeting these genes, researchers hope to develop a cream that could treat or cure skin cancer.

The findings go against previous warnings that the sun was solely to blame for a person developing skin cancer.

Griffith Health Institute director Lyn Griffiths, who is supervising Ms Grealy's research, said the cream would be developed on the Coast where skin damage was high.

"Queensland has the highest rates of skin cancer in the world," Ms Griffiths said.

"Non-melanoma is actually the most common, so there's a real need to try and work out the drivers behind people developing skin cancers. If we know there's certain genes that are playing a role, we can work out which genes (to target)."

Prof Griffiths said the cream would also overcome damage once people were diagnosed with it.

Ms Grealy is studying non-melanoma skin cancer - solar keratosis - that are not invasive cancers, but can develop into non-melanoma skin cancers.

In 2007, there were 448 deaths from non-melanoma skin cancer in Australia.

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Gene that could control HIV discovered

London, November 28 (ANI): A team of scientists from the Walter and Eliza Hall Institute in Australia has discovered a gene that could hold the key to treating and potentially controlling chronic infections such as HIV, hepatitis and tuberculosis.

They found that the gene, called Arih2, which is essential for embryo survival, also controls the function of the immune system - making critical decisions about whether to switch on the immune response to an infection, the Daily Mail reported.

The finding could help in the development of treatments for infections that 'overwhelm' the immune system like HIV as well as conditions that cause chronic inflammation such as rheumatoid arthritis, they said.

The team discovered the gene in dendritic cells, which act as an early warning system raising the alarm if they detect foreign invaders.

"Arih2 is responsible for the most fundamental and important decision that the immune system has to make - whether the immune response should be initiated and progressed or whether it should be switched off to avoid the development of chronic inflammation or autoimmunity," the paper quoted research leader Dr Marc Pellegrini as saying.

"If the wrong decision is made, the organism will either succumb to the infection, or succumb to autoimmunity," he added.

Dr Greg Ebert said Arih2 had significant promise as a drug target.

"Arih2 has a unique structure, which we believe make it an excellent target for a therapeutic drug, one that is unlikely to affect other proteins and cause unwanted side-effects," Dr Ebert said.

"Because Arih2 is critical for survival, we now need to look at the effect of switching off the gene for short periods of time, to see if there is a window of opportunity for promoting the immune response to clear the infection without unwanted or collateral damage or autoimmunity," he noted.

Though the researchers are very excited about their discovery, they noted that it would take many years to translate the discovery to a drug that could be used in humans. (ANI)

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'Huddle' gene linked to infertility

Scientists have identified a gene which could help solve the problem of infertility in humans.

The team at the University of Edinburgh conducted a study with fruit flies, during which they found that when the gene SRPK is missing, chromosomes do not "huddle" together.

They believe the huddling process is necessary to ensure the egg's healthy development and fertilisation.

Chromosomes are thread-like structures which contain a person's DNA, and when they divide it can lead to sterility and low fertility, according to the study.

Previous research in mice has shown that the huddling process is essential in order for eggs to remain fertile, the scientists said.

By identifying the genes involved in the process, the experts now hope to gain an understanding of what goes on in the creation of fertile reproductive cells.

The team said further research is needed to help build a more detailed picture on how huddling works.

Professor Hiroyuki Ohkura, from the University of Edinburgh's School of Biological Sciences, said: "Fruit fly eggs serve as a good model to understand why sterility and low fertility arises in humans.

"By studying the phenomenon of chromosome clustering, shared by fruit flies and humans and identifying genes like SRPK we are gaining insights into fertility health."

The study is published in the Journal of Cell Science and was funded by the Wellcome Trust.

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Gene linked to respiratory distress in babies

ScienceDaily (Nov. 27, 2012) Some infants are more susceptible to potentially life-threatening breathing problems after birth, and rare, inherited DNA differences may explain why, according to research at Washington University School of Medicine in St. Louis.

The study is the first to identify a single gene -- ABCA3 -- that is associated with a significant number of cases of respiratory distress syndrome (RDS) in babies born at or near full term. RDS is the most common respiratory problem in newborns and the most common lung-related cause of death and disease among U.S. infants less than a year old.

Their findings will be published in the December 2012 issue of Pediatrics and are available online.

The research may lead to new diagnostic and therapeutic strategies for prevention and treatment to improve respiratory outcomes for babies.

"We found that mutations in ABCA3 account for about 10 percent of respiratory disease in babies born near their due dates," said Jennifer A. Wambach, MD, assistant professor of pediatrics and the study's lead author. "These are babies who we typically think should have mature lungs and breathe normally. While we have known for a while that RDS is a heritable disease, this is the first gene to account for a significant proportion of disease among infants that are full-term or nearly full-term."

RDS occurs when an infant's lungs don't produce enough surfactant, a liquid that coats the inside of the lungs and helps keep them open so the baby can breathe. If there isn't enough surfactant, an infant has to work hard to breathe and may suffer from a lack of oxygen. Premature infants are at especially high risk of RDS, as surfactant production increases as babies near term. However, 2 percent to 3 percent of term and near-term babies also develop RDS.

The researchers' findings suggest a range of possibilities, Wambach said. These include using the genetic knowledge to plan affected infants' births near hospitals with neonatal intensive-care units and developing medical therapies to target the abnormal protein resulting from these mutations.

Wambach said the researchers hope to identify additional genes that cause neonatal RDS and better identify babies at risk.

"But right now we're studying how these mutations function in the laboratory," Wambach said. "Statistical associations help guide us, but we also need to understand the biology of these mutations."

The research team -- including Aaron Hamvas, MD, and F. Sessions Cole, MD -- evaluated five genes known to be important for normal breathing immediately after birth. Hamvas is the James Keating Professor of Pediatrics and medical director of the newborn intensive care unit at St. Louis Children's Hospital. Cole is the Park J. White, MD, Professor of Pediatrics.

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Gene linked to respiratory distress in babies

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Arrowhead Publishes First Ever Cholesterol-siRNA Mediated Gene Knockdown in Primates and Novel DPC Co-Injection Strategy

PASADENA, Calif.--(BUSINESS WIRE)--

Arrowhead Research Corporation (ARWR), a targeted therapeutics company, today announced the publication of data demonstrating that high level target gene knockdown with low doses of cholesterol-siRNA is possible in non-human primates using the companys Dynamic Polyconjugate (DPC) delivery system and a novel co-injection strategy. This new delivery approach dramatically increases the efficacy of cholesterol-siRNA and, together with the co-injection strategy, simplifies the manufacturing process to enable a commercially scalable delivery vehicle for RNAi therapeutics. The company is using this strategy and a next generation DPC polymer in ARC-520, its hepatitis B clinical candidate. The paper titled, Co-injection of a targeted, reversibly masked endosomolytic polymer dramatically improves the efficacy of cholesterol-conjugated siRNAs in vivo, was published online ahead of print in the journal Nucleic Acid Therapeutics to be featured in the December issue (Nucleic Acid Therapeutics. December 2012, 22(6): 380-390).

The publication describes an important advance in DPC technology. Specifically, the requirement for siRNA attachment to the DPC polymer is replaced by conjugating a cholesterol to the siRNA and co-injecting it with the DPC polymer. Uptake of the DPC in the target cells and subsequent unmasking of the polymers endosomolytic properties enables release of the cholesterol-siRNA from the endosome to the cells cytoplasm where it can elicit RNAi. This delivery strategy produces over 500-fold increase in efficiency in mice compared to injection of cholesterol-siRNA alone and is the first delivery system to demonstrate cholesterol-siRNA mediated gene knockdown in monkeys. Long duration silencing was observed after administration of a single dose with maximal protein reduction sustained until day 30. Further, unlike other siRNA delivery platforms, the co-injection method does not require complex formation of the siRNA to the delivery vehicle, which eliminates potentially complicated and costly manufacturing steps. This represents a seminal advance in the siRNA delivery field.

The main drawback of cholesterol-conjugated siRNAs is that their delivery is highly inefficient, and extraordinarily high doses would be needed to achieve even minimal amounts of target gene silencing, said Bruce Given, MD, Arrowheads COO and Head of R&D. Our strategy and the DPC platform enable much higher levels of gene silencing at dramatically lower doses of cholesterol-siRNA. Moreover, the ability to simply co-inject the cholesterol-siRNA with the DPC polymer without having to attach them together simplifies manufacturing and has facilitated our use of next generation polymers. This co-injection strategy and a next generation polymer are being used in our HBV clinical candidate, ARC-520.

About Arrowhead Research Corporation

Arrowhead Research Corporation is a clinical stage targeted therapeutics company with development programs in oncology, obesity, and chronic hepatitis B virus infection. The company is leveraging its platform technologies to design and develop peptide-drug conjugates (PDCs) that specifically home to cell types of interest while sparing off-target tissues, create targeted drugs based on the gene silencing RNA interference (RNAi) mechanism, and work with partners to create improved versions of traditional small molecule drugs.

For more information please visit http://www.arrowheadresearch.com, or follow us on Twitter @ArrowRes. To be added to the Company's email list to receive news directly, please send an email to ir@arrowres.com

Safe Harbor Statement under the Private Securities Litigation Reform Act:

This news release contains forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. These statements are based upon our current expectations and speak only as of the date hereof. Our actual results may differ materially and adversely from those expressed in any forward-looking statements as a result of various factors and uncertainties, including our ability to finance our operations, the future success of our scientific studies, our ability to successfully develop drug candidates, the timing for starting and completing clinical trials, rapid technological change in our markets, and the enforcement of our intellectual property rights. Arrowhead Research Corporation's most recent Annual Report on Form 10-K and subsequent Quarterly Reports on Form 10-Q discuss some of the important risk factors that may affect our business, results of operations and financial condition. We assume no obligation to update or revise forward-looking statements to reflect new events or circumstances.

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European Descendants Carry Brunt of New Gene Mutations

Almost three quarters of gene mutations occurred within the last 5 to 10 millennia of humans 200,000 years existence, and those of European descent have most of the harmful ones, an analysis of people in the U.S. showed.

About 14 percent of mutations scientists identified were found to be harmful, according to a gene study of 6,500 Americans published today in the journal Nature. About 86 percent of those variants arose in people with European heritage in the last 5,000 years, the research found.

The exploding population growth of humans enabled DNA errors to occur more rapidly, said study author Joshua Akey, an associate professor of genome sciences at the University of Washington in Seattle. People with European ancestry have most of the new deleterious mutations because the population boom among Europeans was more recent and natural selection hasnt yet removed them, he said.

Theres an enormous amount of recently arisen, rare mutations thats directly attributable to the explosive population growth over the last two to four generations, said Akey in a telephone interview.

The worlds population was 6.9 billion in 2010, more than doubling from 2.5 billion in 1950, according to United Nations data. The population boom may mean that unusual combinations may affect more people, numerically, while remaining rare relative to the world population, Akey said.

More people allow for rare variations to come up more often and for new mutations to appear, Akey said. The growing population also makes it more likely that new mutations will be introduced, such as those linked to autism, leading to an increase in certain diseases.

The findings are also consistent with the out of Africa hypothesis of human evolution, which holds that modern humans emerged in Africa before spreading across the rest of the world, according to the researchers. Events such as the Black Death, a plague which killed about a third of the people in Europe, could be seen through their effects on the genome, said Eric Topol, a professor of translational genomics at the Scripps Research Institute in La Jolla, California.

Todays data may provide other hints of how the human population expanded, much like tree rings can provide records of the past weather, Topol said.

This helps us understand bottlenecks and how humans evolved, Topol said. He wasnt involved in the study. Now when scientists see new genes or mutations, they can also begin to ask when did they crop up, he said.

Whats more, the data may help doctors identify the genetic basis of disease, he said. Researchers typically look for frequent variants in common ailments, such as diabetes and heart disease. Todays results suggest that rare variations occur so often that they contribute more than once thought to common illnesses.

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European Descendants Carry Brunt of New Gene Mutations

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Bioliberation and Biothreats – The Future of Genetic Engineering "Super Mouse" – Video


Bioliberation and Biothreats - The Future of Genetic Engineering "Super Mouse"
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Zecharia Sitchin – The 12th Planet – Video


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Zecharia Sitchin (Russian: #1047; #1072; #1093; #1072; #769; #1088; #1080; #1103; #1057; #1080; #769; #1090; #1095; #1080; #1085; Azerbaijani: Zaxariya Sitçin) (July 11, 1920 -- October 9, 2010) was an Azerbaijani-born American author of books proposing an explanation for human origins involving ancient astronauts. Sitchin attributes the creation of the ancient Sumerian culture to the Anunnaki, which he states was a race of extraterrestrials from a planet beyond Neptune called Nibiru. He believed this hypothetical planet of Nibiru to be in an elongated, elliptical orbit in the Earth #39;s own Solar System, asserting that Sumerian mythology reflects this view. Sitchin #39;s books have sold millions of copies worldwide and have been translated into more than 25 languages. Similarly to earlier authors such as Immanuel Velikovsky and Erich von Däniken, Sitchin advocated hypotheses in which extraterrestrial events supposedly played a significant role in ancient human history. According to Sitchin #39;s interpretation of Mesopotamian iconography and symbology, outlined in his 1976 book The 12th Planet and its sequels, there is an undiscovered planet beyond Neptune that follows a long, elliptical orbit, reaching the inner solar system roughly every 3600 years. This planet is called Nibiru (although Jupiter was the planet associated with the god Marduk in Babylonian cosmology). According to Sitchin, Nibiru (whose name was replaced with MARDUK in original legends by the Babylonian ruler of the same name in an attempt to co-opt the creation for himself, leading to some ...From:DiscloseTruthTVViews:212 11ratingsTime:32:53More inEducation

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PSA : Genetic Engineering by Christina Bachis – Video


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Genetically Modified Fish – Wiki Article – Video


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Genetically modified fish (GM fish) are genetically modified organisms. The DNA of the fish has been modified using genetic engineering techniques. In most cases the aim is to introduce a new trait t... Genetically Modified Fish - Wiki Article - wikiplays.org Original @ http All Information Derived from Wikipedia using Creative Commons License: en.wikipedia.org Author: Image URL: en.wikipedia.org ( Lic. under the GNU Free Doc. Lic. ) Author: Niall Crotty Image URL: en.wikipedia.org ( Creative Commons ASA 3.0 ) Author: Azul Image URL: en.wikipedia.org ( Copyright holder allows use with attribution. )From:WikiPlaysViews:0 0ratingsTime:10:49More inEducation

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Golden Rice – Wiki Article – Video


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Golden rice is a variety of Oryza sativa rice produced through genetic engineering to biosynthesize beta-carotene, a precursor of vitamin A, in the edible parts of rice. The research was conducted wi... Golden Rice - Wiki Article - wikiplays.org Original @ http All Information Derived from Wikipedia using Creative Commons License: en.wikipedia.org Author: International Rice Research Institute (IRRI) Image URL: en.wikipedia.org ( Creative Commons ASA 3.0 ) Author: Carotenoid.jpg Image URL: en.wikipedia.org ( Creative Commons ASA 3.0 ) Author: Unknown Image URL: en.wikipedia.org ( This work is in the Public Domain. ) Author: Unknown Image URL: en.wikipedia.org ( This work is in the Public Domain. )From:WikiPlaysViews:0 0ratingsTime:19:22More inEducation

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UK, German and US scientists decipher complex genetic code to create new tools for breeders and researchers across the …

ScienceDaily (Nov. 28, 2012) Scientists have unlocked key components of the genetic code of one of the world's most important crops. The first analysis of the complex and exceptionally large bread wheat genome, published today in Nature, is a major breakthrough in breeding wheat varieties that are more productive and better able to cope with disease, drought and other stresses that cause crop losses.

The identification of around 96,000 wheat genes, and insights into the links between them, lays strong foundations for accelerating wheat improvement through advanced molecular breeding and genetic engineering. The research contributes to directly improving food security by facilitating new approaches to wheat crop improvement that will accelerate the production of new wheat varieties and stimulate new research. The analysis comes just two years after UK researchers finished generating the sequence.

The project was led by Neil Hall, Mike Bevan, Keith Edwards, Klaus Mayer, from the University of Liverpool, the John Innes Centre, the University of Bristol, and the Institute of Bioinformatics and Systems Biology, Helmholtz-Zentrum, Munich, respectively, and Anthony Hall at the University of Liverpool. W. Richard McCombie at Cold Spring Harbor Laboratory, and Jan Dvorak at the Univerisity of California, Davis, led the US contribution to the project.

The team sifted through vast amounts of DNA sequence data, translating the sequence into something that scientists and plant breeders can use effectively. All of their data and analyses were freely available to users world-wide.

Professor Neil Hall said: "The raw data of the wheat genome is like having tens of billions of scrabble letters; you know which letters are present, and their quantities, but they need to be assembled on the board in the right sequence before you can spell out their order into genes."

"We've identified about 96,000 genes and placed them in an approximate order. This has made a strong foundation for both further refinement of the genome and for identifying useful genetic variation in genes that scientists and breeders can use for crop improvement."

Minister for Universities and Science David Willetts said: "This groundbreaking research is testament to the excellence of Britain's science base and demonstrates the capability we want to build on through the agri-tech strategy currently being developed.

"The findings will help us feed a growing global population by speeding up the development of new varieties of wheat able to cope with the challenges faced by farmers worldwide."

Wheat has a global output of over 680million tonnes; bread wheat (Triticum aestivum) provides over a fifth of the calories that we eat. As the global population and the demand for wheat rises, major efforts are underway to improve productivity by producing varieties that can withstand adverse weather and disease, and that provide greater yields. However, until now the very large size and complexity of the genome have been significant barriers to crop improvement.

Klaus Mayer said: "Bread wheat is a complex hybrid, composed of the complete genomes of three closely related grasses. This makes it very complex and large; in total it is almost five times bigger than the human genome."

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UK, German and US scientists decipher complex genetic code to create new tools for breeders and researchers across the ...

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Major breakthrough in deciphering bread wheat's genetic code

Public release date: 28-Nov-2012 [ | E-mail | Share ]

Contact: Rob Dawson 01-793-413-204 Biotechnology and Biological Sciences Research Council

Scientists have unlocked key components of the genetic code of one of the world's most important crops. The first analysis of the complex and exceptionally large bread wheat genome, published today in Nature, is a major breakthrough in breeding wheat varieties that are more productive and better able to cope with disease, drought and other stresses that cause crop losses.

The identification of around 96,000 wheat genes, and insights into the links between them, lays strong foundations for accelerating wheat improvement through advanced molecular breeding and genetic engineering. The research contributes to directly improving food security by facilitating new approaches to wheat crop improvement that will accelerate the production of new wheat varieties and stimulate new research. The analysis comes just two years after UK researchers finished generating the sequence.

The project was led by Neil Hall, Mike Bevan, Keith Edwards, Klaus Mayer, from the University of Liverpool, the John Innes Centre, the University of Bristol, and the Institute of Bioinformatics and Systems Biology, Helmholtz-Zentrum, Munich, respectively, and Anthony Hall at the University of Liverpool. W. Richard McCombie at Cold Spring Harbor Laboratory, and Jan Dvorak at the Univerisity of California, Davis, led the US contribution to the project.

The team sifted through vast amounts of DNA sequence data, translating the sequence into something that scientists and plant breeders can use effectively. All of their data and analyses were freely available to users world-wide.

Professor Neil Hall said: "The raw data of the wheat genome is like having tens of billions of scrabble letters; you know which letters are present, and their quantities, but they need to be assembled on the board in the right sequence before you can spell out their order into genes."

"We've identified about 96,000 genes and placed them in an approximate order. This has made a strong foundation for both further refinement of the genome and for identifying useful genetic variation in genes that scientists and breeders can use for crop improvement."

Minister for Universities and Science David Willetts said: "This groundbreaking research is testament to the excellence of Britain's science base and demonstrates the capability we want to build on through the agri-tech strategy currently being developed.

"The findings will help us feed a growing global population by speeding up the development of new varieties of wheat able to cope with the challenges faced by farmers worldwide."

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Major breakthrough in deciphering bread wheat's genetic code

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Genetic breakthrough could guarantee wheat supplies

There are nearly 70 different varieties of wheat recommended for farming and suitable for bread, biscuits or for distilling. By improving wheat varieties, scientists hope to increase crops yields by engineering them to be more tolerant to disease, climate change, pests and other factors which currently affect harvests.

Co-author of the paper published in the journal Nature, Professor Neil Hall of University of Liverpool, said: "The raw data of the wheat genome is like having tens of billions of scrabble letters. You know which letters are present, and their quantities, but they need to be assembled on the board in the right sequence before you can spell out their order into genes.

"We've identified about 96,000 genes and placed them in an approximate order. This has made a strong foundation for both further refinement of the genome and for identifying useful genetic variation in genes that scientists and breeders can use for crop improvement."

The researchers created "genetic markers" from wheat varieties and compared them to ancestral grasses like rice and barley to see if desired traits were present. New varieties were then created through artificial selection for "precision breeding".

By altering the genetic code sequence of bread, wheat scientists will be able to modify the new varieties for specific characteristics, making them more resilient to guarantee good crop yields.

The raw data of the wheat genome is like having tens of billions of scrabble letters. Prof Neil Hall, Liverpool University

According to the British Society of Plant Breeders (BSPB), breeding aims to improve the quality, diversity and performance of agricultural and horticultural crops. It says none of the major food crops grown in Britain are native to this country.

Cereals, potatoes, root crops and oilseeds which make up our farmland have their origins in many different parts of the world which have been adapted through plant breeding, to thrive under UK growing conditions.

More than 680 million tonnes of wheat is processed globally each year. Scientists believe that as the world's population continues to grow, the demand for more wheat harvests will also rapidly rise and the need for sustainable farming will be greater than ever.

Professor Denis Murphy, head of the Life Sciences Research Unit at the University of Glamorgan, who was not involved in this research, said: "This is a landmark paper that outlines the genetic blueprint of one of the major global crops. Bread wheat provides a vital staple food to billions of people across the world and is found in products ranging from chapattis and pita breads to biscuits and western-style leavened (raised) bread.

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Genetic breakthrough could guarantee wheat supplies

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Human genetic variation recent, varies among populations

ScienceDaily (Nov. 28, 2012) Nearly three-quarters of mutations in genes that code for proteins -- the workhorses of the cell -- occurred within the past 5,000 to 10,000 years, fairly recently in evolutionary terms, said a national consortium of genomic and genetic experts, including those at Baylor College of Medicine.

"One of the most interesting points is that Europeans have more new deleterious (potentially disease-causing) mutations than Africans," said Dr. Suzanne Leal, professor of molecular and human genetics at BCM and an author of the report. She is also director of the BCM Center for Statistical Genetics. "Having so many of these new variants can be partially explained by the population explosion in the European population. However, variation that occur in genes that are involved in Mendelian traits and in those that affect genes essential to the proper functioning of the cell tend to be much older." (A Mendelian trait is controlled by a single gene. Mutations in that gene can have devastating effects.)

How events affected genome

The amount variation or mutation identified in protein-coding genes (the exome) in this study is very different from what would have been seen 5,000 years ago, said Leal and her colleagues in the report that appears online in the journal Nature. The report shows that "recent" events have a potent effect on the human genome.

Eighty-six percent of the genetic variation or mutations that are expected to be harmful arose in European-Americans in the last five thousand years, said the researchers.

The researchers used established bioinformatics techniques to calculate the age of more than a million changes in single base pairs (the A-T, C-G of the genetic code) that are part of the exome or protein-coding portion of the genomes (human genetic blueprint) of 6,515 people of both European-American and African-American decent. The research was an offshoot of the National Heart, Lung and Blood Institute Exome Sequencing Project.

Human population increase

"The recent dramatic increase in human population size, resulting in a deluge of rare functionally important variation, has important implications for understanding and predicting current and future patterns of human disease and evolution," wrote the authors in their report.

Others institutions that took part in this research include the University of Washington, Seattle; University of Michigan, Ann Arbor; the Broad Institute of MIT and Harvard.

Funding for the research came from the GO (Grand Opportunity) Exome Sequencing Project (NHLBI grants RC2 HL-103010 (Heart GO), RC2 HL-102923 (Lung GO) and RC2 HL-102924 (WHISP). The exome sequencing was supported by NHLBI grants RC2HL-102925 (Broad GO) and RC2 HL-102926 (Seattle GO).

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Joslin researchers increase understanding of genetic risk factor for type 1 diabetes

Public release date: 28-Nov-2012 [ | E-mail | Share ]

Contact: Jeffrey Bright jeffrey.bright@joslin.harvard.edu 617-309-1957 Joslin Diabetes Center

BOSTON November 28, 2012 As part of their ongoing research on the role of genes in the development of type 1 diabetes, Joslin Diabetes Center scientists, in collaboration with scientists at the University of Wrzburg, have demonstrated how a genetic variant associated with type 1 diabetes and other autoimmune diseases influences susceptibility to autoimmunity. The findings appear in the upcoming issue of Diabetes.

Recent studies of the human genome have identified genetic regions associated with autoimmune diseases such as type 1 diabetes. Joslin scientists in the Section of Immunobiology seek to understand how genes that are most widely associated with various autoimmune diseases contribute to disease risk.

One of these genes is PTPN22, which plays a role in lymphocyte (immune cell) function. A PTPN22 variant (or mutation) has been implicated as a risk factor for type 1 diabetes and several other autoimmune disorders. PTPN22 is involved in the formation of a key protein known as lymphoid tyrosine phosphatase (LYP), which helps control the activity of T and B cells in the immune system. The PTPN22 mutation generates a variation of LYP with a different molecular structure.

Most studies of the PTPN22 disease variant have suggested that this variant is a gain-of-function genetic mutation that enhances LYP activity and lessens the activity of T and B cells, which increases susceptibility to autoimmunity. "When immune cells are less reactive during the maturation phase of their development, the cells can evade mechanisms that help protect against autoimmunity," says study lead author Stephan Kissler, PhD, of the Section of Immunobiology. However, one study which analyzed data from humans and genetically modified mice suggested that the LYP variant associated with type 1 diabetes is a loss-of-function mutation that reduces LYP activity.

To help resolve the conflicting data, Joslin scientists conducted studies with a unique mouse model developed by Dr. Kissler's graduate student and co-author, Peilin Zheng. Using a technology that combines RNA interference, a method to silence gene expresson, with lentiviral transgenesis, a method to genetically modify animals, the scientists can manipulate gene activity in the most widely used mouse model for type 1 diabetes, the nonobese diabetic mouse (NOD). In this study, the researchers were able to easily turn off and on the PTPN22 gene in the NOD mouse. "We are the first to use this approach in the NOD mouse model," says Dr. Kissler. "It provides a very powerful way to study the contribution of PTPN22 to disease."

When PTPN22 was turned off in mice, mimicking a loss-of-function mutation, the researchers observed an increase in regulatory T cells and a decreased risk of autoimmune diabetes. "This is the first study conducted on the diabetic mouse model that supports the LYP gain-of-function hypothesis," says Dr. Kissler. "Our work should help to resolve the controversy."

By providing additional data that suggests the potential therapeutic value of PTPN22 manipulation, the study may further the development of new therapeutic options that inhibit LYP to reduce or prevent autoimmunity. "Our goal is to treat autoimmunity. Inhibiting LYP in patients may increase regulatory immune cells and could confer protection against autoimmunity, but it remains to be tested if our promising findings in this mouse model are reflected in humans," says Dr. Kissler.

The Joslin scientists are following up on this study to deepen understanding of how inhibiting PTPN22 affects T and B cells.

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Joslin researchers increase understanding of genetic risk factor for type 1 diabetes

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Journal Clinical Pediatrics Reports 80% of Parents Surveyed Would be Interested in Genetic Risk Assessment Testing for …

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

The vast majority (80 percent) of parents with at least one child with Autism Spectrum Disorder (ASD) would pursue genetic testing if a test were available that could identify risk in a younger sibling, citing the desire for earlier identification of children at risk, earlier evaluation and intervention, closer monitoring and lessened anxiety. The findings were reported in Parental Interest in a Genetic Risk Assessment Test for Autism Spectrum Disorders, a survey published online today in the journal Clinical Pediatrics.

The survey of 162 parents of children with ASD also reported an almost three-year lag from the time ASD was initially suspected until a child received a diagnosis--even in families with a previously diagnosed child. Link to publication.

The internet-based survey was sponsored by IntegraGen, Inc. and conducted during February and March 2012. Earlier this year, the CDC announced that ASD prevalence in the United States has increased to one in 88 children, and even with increased awareness, the average age of ASD diagnosis is greater than four years.

The majority of parents surveyed said they would be interested in having their child tested if a genetic test was available that could identify ASD risk--even if it could not confirm a diagnosisin order to facilitate an earlier diagnosis and access to therapies known to make a positive impact on their childs development, stated the studys primary investigator Elizabeth Couchon, M.S., L.G.C., a licensed genetic counselor and medical sciences liaison for IntegraGen, Inc., which recently launched the ARISk Autism Risk Assessment Test. This multi-SNP (Single Nucleotide Polymorphism), gender-specific genetic screening test looks at 65 genetic markers associated with ASD to assess the risk of autism in children under the age of 36 months who have an older sibling with ASD, paving the way for early diagnosis, early intervention and better outcomes Our goal was to better understand parents experiences with the ASD diagnostic process, assess their anxiety levels about the risk of ASD recurring in their family, and gauge attitudes regarding the use of a genetic risk assessment test to evaluate risk for ASD in younger siblings, she added. The survey found that families experienced a significant delay in the time it took to get an ASD diagnosis when they realized something was wrong, even when they had an older child with ASD.

Parents who have one child with ASD are often anxious about younger siblings since we know there is a genetic component and that ASD runs in families, says national autism expert Antonio Hardan, M.D., a member of IntegraGen's advisory board and one of the studys co-authors. These parents often know the signs and symptoms of ASD, and typically recognize issues with their younger childrens development. Many also know earlier diagnosis and intervention leads to better outcomes, so the availability of an early screening tool that could aid with early diagnosis would relieve some of their anxiety.

The average recurrence risk for siblings of children affected with ASD has been reported as 18.7%, a 20-fold increase compared to the prevalence of ASD in the general population, suggesting a strong genetic component to the cause of ASD. However, despite the increased risk to siblings, the earlier identification and diagnosis of those siblings at highest risk remains a challenge. The survey was limited to parents living in the United States with at least one child diagnosed with ASD. The survey also focused on parents who had both an older child with ASD and undiagnosed siblings under the age of 48 months.

Among the key findings:

About IntegraGen:

IntegraGen SA (ALINT.PA) is a biotechnology company dedicated to molecular biomarker discovery. The company is headquartered in Evry, France-based and has a wholly-owned US subsidiary is located in Cambridge, Massachusetts. The Companys goal is the development of molecular diagnostic products and services that provide clinicians with new tools to personalize diagnosis, treatment and therapy for complex debilitating diseases. Its Genetic Services Business provides state-of-the-art genotyping services to the research community. Focusing its efforts on the early identification of children at risk for autism spectrum disorder (ASD), IntegraGen has made inroads in identifying a number of common genetic variants associated with ASD. The Company has recently launched the ARISk Test in the United States providing a genetic screening tool for the early identification of children at risk for ASD.

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Genetic variation recent, varies among populations

Public release date: 28-Nov-2012 [ | E-mail | Share ]

Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine

HOUSTON -- (Nov. 29, 2012) Nearly three-quarters of mutations in genes that code for proteins the workhorses of the cell occurred within the past 5,000 to 10,000 years, fairly recently in evolutionary terms, said a national consortium of genomic and genetic experts, including those at Baylor College of Medicine.

"One of the most interesting points is that Europeans have more new deleterious (potentially disease-causing) mutations than Africans," said Dr. Suzanne Leal, professor of molecular and human genetics at BCM and an author of the report. She is also director of the BCM Center for Statistical Genetics. "Having so many of these new variants can be partially explained by the population explosion in the European population. However, variation that occur in genes that are involved in Mendelian traits and in those that affect genes essential to the proper functioning of the cell tend to be much older." (A Mendelian trait is controlled by a single gene. Mutations in that gene can have devastating effects.)

The amount variation or mutation identified in protein-coding genes (the exome) in this study is very different from what would have been seen 5,000 years ago, said Leal and her colleagues in the report that appears online in the journal Nature. The report shows that "recent" events have a potent effect on the human genome.

Eighty-six percent of the genetic variation or mutations that are expected to be harmful arose in European-Americans in the last five thousand years, said the researchers.

The researchers used established bioinformatics techniques to calculate the age of more than a million changes in single base pairs (the A-T, C-G of the genetic code) that are part of the exome or protein-coding portion of the genomes (human genetic blueprint) of 6,515 people of both European-American and African-American decent. The research was an offshoot of the National Heart, Lung and Blood Institute Exome Sequencing Project.

"The recent dramatic increase in human population size, resulting in a deluge of rare functionally important variation, has important implications for understanding and predicting current and future patterns of human disease and evolution," wrote the authors in their report.

###

Others institutions that took part in this research include the University of Washington, Seattle; University of Michigan, Ann Arbor; the Broad Institute of MIT and Harvard. Other BCM researchers who took part include Dr. Christie M. Ballantyne, Mengyuan Kan, Fremiet Lara-Garduno, Dajiang J. Liu, Gao Wang and Dr. Haleh Sangi-Haghpeykar.

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Genetic variation recent, varies among populations

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