2013-07-17: Incorporating Personalized Medicine in Community Hospital Systems
by Jean-Claude Marshall Slideshare: http://goo.gl/dy0CN.

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May 26, 2013 Britney Hill paralyzed spinal cord injury
Britney Hill making her climb.

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Project Walk Carlsbad - AJ Spinal Cord Injury Milestone
A.J. suffered a C4-6 spinal cord injury in February of 2012. He is seen here completing overhead pull downs for the first time without assistance.

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What is Regenerative Medicine?
Learn about regenerative medicine related research being conducted at Johns Hopkins University via the Institute for NanoBioTechnology (INBT). This video was...

By: INBT Johns Hopkins

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July 24, 2013 Columbia University Medical Center (CUMC) scientists have identified new genetic mutations that can cause pulmonary arterial hypertension (PAH), a rare fatal disease characterized by high blood pressure in the lungs. The mutations, found in the gene KCNK3, appear to affect potassium channels in the pulmonary artery, a mechanism not previously linked to the condition. Cell culture studies showed that the mutations' effects could be reversed with a drug compound known as a phospholipase inhibitor.

The study was published today in the online edition of the New England Journal of Medicine.

"The most exciting thing about our study is not that we've identified a new gene involved in pulmonary hypertension, but that we've found a drug that can 'rescue' some mutations," said co-senior author Wendy K. Chung, MD, PhD, associate professor of pediatrics and medicine at CUMC. "In genetics, it's common to identify a gene that is the source of a disease. However, it's relatively rare to find potential treatments for genetic diseases."

PAH is a progressive disorder characterized by abnormally high blood pressure in the pulmonary artery, which reduces blood flow from the right side of the heart to the lungs. The heart can compensate by pumping harder, but over time this can weaken the heart muscle and lead to right-sided heart failure. Common symptoms of PAH include shortness of breath, dizziness, and fainting. About 1,000 new cases are diagnosed in the United States each year. The disorder is twice as common in females as in males. There is no cure for PAH and few effective treatments. Most patients with PAH die within 5-7 years of diagnosis.

Some cases of PAH are caused by inherited genetic defects. Most of these "familial" cases have been linked to mutations in a gene called BMPR2 (bone morphogenetic protein receptor, type II), which was identified simultaneously in 2000 by two independent research teams, one led by the late Robin Barst and Jane Morse, CUMC researchers. However, the majority of cases are idiopathic in origin (of unknown cause). Other forms of PAH can be triggered by autoimmune diseases, congenital heart defects, infections (such as schistosomiasis), and medications (such as the now-banned diet-drug combination commonly known as fen-Phen).

Dr. Chung and her colleagues discovered the new mutations by sequencing the exomes (the portion of the genome that codes information to make proteins) of families with PAH without identified mutations. KCNK3 mutations were found in 3.2 percent of those with familial disease and in 1.3 percent of those with idiopathic PAH.

The team found that the mutations alter the function of potassium channels by reducing the activity of these channels. Potassium channels help maintain the vascular tone of the pulmonary artery and help it respond to low levels of oxygen.

"We were surprised to learn that KCNK3 appears to play a role in the function of potassium channels in the pulmonary artery," said Dr. Chung. "No one had suspected that this mechanism might be associated with PAH." The other gene linked to the disorder, BMPR2, is thought to cause PAH by ultimately promoting growth and multiplication of smooth muscle cells in the pulmonary artery, thereby restricting blood flow.

Dr. Chung also found, working in collaboration with co-senior author, Robert S. Kass, PhD, the Alumni and David Hosack Professor of Pharmacology, chair of the department, and vice dean for research at CUMC, that the effects of the KCNK3 mutations could be reversed with an experimental phospholipase inhibitor called ONO-RS-082. The findings were made in cell cultures. Further study is needed to determine whether treatment with this or other drugs that affect potassium channels might be useful in the treatment of people with PAH, said Dr. Chung.

"KCNK3 mutations are a rare cause of PAH, so I don't want to oversell our findings," said Dr. Chung. "Still, it's exciting that we've found a mechanism that can lead to the disease that is a new, druggable target. It's also possible that targeting KCNK3 may be beneficial for patients who have PAH independent of their KCNK3 genetic status."

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By Dennis Thompson HealthDay Reporter

WEDNESDAY, July 24 (HealthDay News) -- A disorder that affects connective tissue could provide vital clues to the genetic origin of nearly all human allergies and allergic diseases, say the authors of a new study of children.

People who have Loeys-Dietz syndrome tend to also suffer disproportionately from allergic diseases, researchers at Johns Hopkins Children's Center and the Johns Hopkins Institute of Genetic Medicine in Baltimore found when looking at a group of 58 children aged 7 to 20 who have the syndrome.

"We found that these patients had a very high risk of developing not just one allergy, but all forms of allergic disease," said study author and immunologist Dr. Pamela Frischmeyer-Guerrerio.

In their paper, published July 24 in Science Translational Medicine, the researchers contend that the genetic mutation that causes Loeys-Dietz syndrome appears to be closely tied to allergies -- so much so that it might explain why certain people suffer from allergic reactions.

However, other allergists are skeptical, saying the genetic link could just be a coincidence.

Loeys-Dietz syndrome is caused by the mutation of a gene called TGFb, and the researchers wondered if this mutation also might create a greater susceptibility to allergies and allergic diseases like eczema and asthma.

They found that the Loeys-Dietz syndrome patients had elevated levels of the signaling molecule produced by the gene, a protein called transforming growth factor-beta or TGF-beta.

TGF-beta serves many roles in the human body. It controls how cells grow in various organs, which is why mutation of the TGFb gene can lead to Loeys-Dietz syndrome, in which blood vessels develop into twisted shapes and physical abnormalities occur like cleft palate and clubfoot.

TGF-beta also is known to play a part in regulating the immune system, spurring the body to fight against foreign microbes while suppressing reactions against foreign bodies like food and pollen.

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Nota a "Genetics", banda tributo a Genesis en Cool Parade con Marcos Mutuverría. 20/07

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Genetics of Disease Susceptibility
For any trait that there might need be a change made in, there has to be a phenotype collected. Without the phenotype there can #39;t be a genetic selection. Wat...

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Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 23
My Sims 3 Page: http://mypage.thesims3.com/mypage/Llandros2012 My Blog: http://Llandros09.blogspot.com My Facebook: https://www.facebook.com/Llandros09?ref=tn_tnmn.

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Dr. Scott Tomlins, assistant professor of pathology and urology at the University of Michigan Medical School, is the winner of the inaugural Martin and Rose Wachtel Cancer Research Award, presented by the American Association for the Advancement of Science and Science Translational Medicine.

The award, which will be given annually, was funded by an endowment established through a bequest from Martin L. Wachtel. It honors an early career investigator who has performed outstanding work in the field of cancer research.

Tomlins research focuses on genetic mutations that occur in prostate cancer. As part of the Michigan Center for Translational Pathology, he has helped to develop clinical tests to detect a specific gene fusion that occurs in about half of all prostate cancers. This has advanced to a clinical trial testing the potential of targeting treatment to men with that gene fusion.

As part of his award, Tomlins will receive $25,000 and will present a lecture based on his research. An essay about his work is published in Science Translational Medicine.

The award, which will be given annually, was funded by an endowment established through a bequest from Martin L. Wachtel. It honors an early career investigator who has performed outstanding work in the field of cancer research.

Tomlins research focuses on genetic mutations that occur in prostate cancer. As part of the Michigan Center for Translational Pathology, he has helped to develop clinical tests to detect a specific gene fusion that occurs in about half of all prostate cancers. This has advanced to a clinical trial testing the potential of targeting treatment to men with that gene fusion.

As part of his award, Tomlins will receive $25,000 and will present a lecture based on his research. An essay about his work is published in Science Translational Medicine.

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Scientists mapped the step-by-step actions that lead to late-onset Alzheimers disease, research that may offer new paths to developing treatments for the ailment.

People who carried the APOE4 gene, known to increase the risk of acquiring Alzheimers later in life, without having the disease, experienced changes in the expression of genes in their brains that resembled those of Alzheimers patients, according to a study published today in the journal Nature.

The changes in gene expression may point to early markers of the disease, and may help develop drugs for Alzheimers, for which there is no treatment or cure. They also bolster the idea that Alzheimers disease alters the brain long before patients become forgetful, said Dean Hartley, the director of scientific initiatives for the Alzheimers Association, an advocacy organization in Chicago. He wasnt involved in the study.

We do need to understand more about the mechanisms involved in Alzheimers diseases initiation and progression, Hartley said in a telephone interview, noting there havent been any successful clinical trials for drugs that try to alter the diseases path. This paper is important because its trying to look at whats being affected. It may suggest targets or pathways to look for new drugs.

The research also suggests that doctors should look to treat patients before they become forgetful, Hartley said. Studies like this one may help identify places to intervene before symptoms appear, he said.

More than 5 million people in the U.S. have Alzheimers, the most common form of dementia, and the number may increase to as many as 16 million by 2050, according to the Alzheimers Association.

There has been growing interest among scientists in what happens in the brain before a patient is diagnosed with clinical Alzheimers. Todays study is meant to help understand those changes at the molecular and cellular levels, Asa Abeliovich, a study author and neuroscientist at Columbia University in New York, said in a telephone interview.

The APOE4 gene increases the risk of developing late-onset Alzheimers, the most common form of the disease, by 3 times for those who have one copy of the gene, and 10 times in those who have two. That gene was first identified in 1991.

While APOE4 raises the risk of getting Alzheimers, most people with the mutation dont develop dementia, Abeliovich said. That suggests some other factor may be required for Alzheimers to begin. The most important non-genetic risk factor for Alzheimers is age. Understanding how the cellular changes from APOE4 interact with other risk factors may explain why some people develop the disease while others dont.

The researchers found 215 genes worked differently in those who had APOE4. They looked most closely at two, which act on how the body processes amyloid precursor protein, which creates the characteristic Alzheimers protein, beta amyloid.

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Path of Alzheimer’s Disease Risk Gene Tracked, Scientists Say

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KUALA LUMPUR, Malaysia and ST. LOUIS, July 24, 2013 /PRNewswire/ -- A multinational team of scientists from the Malaysian Palm Oil Board (MPOB) and Orion Genomics today announced the publication of two papers in the journal Nature outlining the genome sequencing of the oil palm plant and the identification of a single gene, called Shell, that is responsible for increasing the plant's yield of oil by 30 percent. The fruit and seeds of the oil palm are the source of nearly one-half of the supply of edible vegetable oil worldwide and provide one of the most promising sources of biofuel. Scientists from the Malaysian Palm Oil Board (MPOB), which sponsored the research, and Orion Genomics authored both papers.

"Malaysia is the second largest producer of palm oil in the world, and we are committed to investing in technologies, such as genomics, that increase the sustainability of oil palm cultivation," said Datuk Dr. Choo Yuen May, Director General of MPOB. "The Orion Genomics team was an important partner on this landmark achievement in genome mapping, which promises to help oil palm seed producers, large commercial plantations and small landholders alike increase the efficiency of their operations and reduce the oil palm agribusiness pressure on our wild rainforests."

The African and South American oil palm plants, Elaeis guineensis and Elaeis oleifera, respectively, are farmed in tropical regions throughout the globe to obtain palm oil. Together they account for 45 percent of the edible vegetable oil produced world-wide. The new research identified the gene Shell, which is responsible for the three known shell forms: dura (thick), pisifera (shell-less) and tenera (thin), a hybrid between dura and pisifera palms. Tenera palms contain two forms, or alleles, of Shellone mutant and one normal, an optimum combination that results in 30 percent more oil per land area than dura palms.

Currently, seed producers and commercial growers rely on selective breeding techniques to maximize plantings of tenera palms, but up to 10 percent of plantings may be the low-yielding dura form due to uncontrollable wind and insect pollination. Identifying whether an oil palm plantlet is the desired shell type can take six years, and, by that time, the trees cannot be uprooted. The identification of Shell has already enabled the development of a simple molecular screen that can be used with seeds and plantlets to prevent the cultivation of undesired non-tenera plants, thereby raising the efficiency of oil palm plantations.

"Orion's long-term collaboration with MPOB successfully combines Orion's genomics technologies with MPOB's significant expertise and germplasm resources, allowing the team to accomplish research breakthroughs like sequencing both oil palm species and discovering the commercially important genes," noted Nathan Lakey, President and CEO of Orion. "With the two publications in Nature, we are pleased to share this new knowledge and our methodologies with the scientific community, and we look forward to its further application literally in the field."

Of the crops currently grown to produce edible oil, the oil palm is by far the most efficient planted on only 5 percent of the world's total vegetable oil acreage, oil palm plants account for nearly 45 percent of the edible oil worldwide. In contrast, soybeans produce 27 percent of the world's edible oil, yet 41 percent of total crop acreage is dedicated to their cultivation.

In addition to its use as an important food oil, palm oil is already impacting biofuel markets and has strong potential to grow. Its energy balance is among the best in the biofuel industry, yielding about nine times the energy required to produce it.

"Because this discovery will help raise efficiency of oil palm agriculture among corporate and small growers alike, it will have a significant impact on the Malaysian economy, because for every 1 percent increase in palm oil yields, Malaysia gains RM 1 billion ($330 million US) in income. This helps Malaysia further strengthen its middle class and decrease the gap between the wealthy and the poor," continued Dr. Choo Yuen May.

Nature Papers

Rajinder Singh, et. al.,"The oil palm Shell gene controls oil yield and encodes a homologue of SEEDSTICK," Nature (DOI 10.1038/nature12356), Coauthors include investigators from MPOB, Orion Genomics and the Howard Hughes Medical Institute-Gordon and Betty Moore Foundation, Cold Spring Harbor Laboratory.

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Public release date: 24-Jul-2013 [ | E-mail | Share ]

Contact: Meng Zhao eic@nrren.org 86-138-049-98773 Neural Regeneration Research

Synaptic remodeling is one of the most common pathological changes after epileptic seizures. Ectopic synaptic reconstruction in the hippocampus is considered to be closely related with temporal lobe epilepsy. Mossy fiber sprouting may trigger synaptic connections or synaptic remodeling in hippocampal CA3 pyramidal cells, which could lead to the formation of excitatory synaptic circuits, thereby increasing epileptic susceptibility. Exogenous neuropeptide Y has antiepileptic effects; however, the underlying mechanism and optimal administration method for neuropeptide Y are still unresolved. Previous studies have used intracerebroventricular injection of neuropeptide Y into animal models of epilepsy. Dr. Fan Zhang and team from Hebei Medical University published a relevant study in the Neural Regeneration Research (Vol. 8, No. 17, 2013) entitled "Neuropeptide Y gene transfection inhibits post-epileptic hippocampal synaptic reconstruction". These researchers found that after intracerebroventricular injection of neuropeptide Y gene, mossy fiber sprouting in the hippocampal CA3 region of epileptic rats was significantly suppressed, hippocampal synaptophysin (p38) mRNA and protein expression were inhibited, and epileptic seizures were reduced. These findings suggest that a recombinant adeno-associated virus expression vector carrying the neuropeptide Y gene reduces mossy fiber sprouting and inhibits abnormal synaptophysin expression, thereby suppressing post-epileptic synaptic reconstruction.

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Article: " Neuropeptide Y gene transfection inhibits post-epileptic hippocampal synaptic reconstruction," by Fan Zhang1, 2, Wenqing Zhao1, Wenling Li3, Changzheng Dong3, Xinying Zhang3, Jiang Wu3, Na Li3, Chuandong Liang3 (1 Graduate School, Hebei Medical University, Shijiazhuang 050011, Hebei Province, China; 2 Hebei General Hospital, Shijiazhuang 050071, Hebei Province, China; 3 Department of Neurosurgery, People's Hospital of Hebei Province, Shijiazhuang 050071, Hebei Province, China)

Zhang F, Zhao WQ, Li WL, Dong CZ, Zhang XY, Wu J, Li N, Liang CD. Neuropeptide Y gene transfection inhibits post-epileptic hippocampal synaptic reconstruction. Neural Regen Res. 2013;8(17):1597-1605.

Contact: Meng Zhao eic@nrren.org 86-138-049-98773 Neural Regeneration Research http://www.nrronline.org/

Full text: http://www.sjzsyj.org:8080/Jweb_sjzs/CN/article/downloadArticleFile.do?attachType=PDF&id=628

AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

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The stand-off between the Madurai Kamaraj University administration and one of its professors has intensified with the varsity issuing a press statement on Tuesday against S. Krishnaswamy, who was removed as the head of Department of Genetic Engineering (DGE) in March.

The Registrar (in-charge) S.V. Hariharan issued a statement accusing Mr. Krishnaswamy of indulging in a mud slinging campaign against the university authorities in gross violation of code of conduct and legal ethics and requested the media to publish the statement in the interest of a public institution which was (being) subjected to attack out of mala fide intention.

According to the press communiqu, Mr. Krishnaswamy was relieved from the DGE and shifted to the Centre of Excellence in Bio-informatics (CEB) as he was ineligible to hold the post of Head of DGE, a statutory department. It claimed that he joined as an Information Scientist in the bio-informatics project of the School of Biological Sciences on a temporary basis in 1990.

In 1997, he was placed as an Information Scientist in CEB in the Professors scale of pay in violation of norms laid down by the University Grants Commission, the university as well as the State government. In 2001, he was re-designated as a Reader with effect from 1990 and as Professor with effect from 1997, again in violation of norms applicable for such re-designation.

He was elevated as a Senior Professor in 2007 and erroneously nominated as Head of the Department of Genetic Engineering in 2009, the statement claimed. Dr. S. Krishnaswamy has been bringing discredit in a habitual manner to the university by launching an online misinformation campaign through his old students and association friends which is a gross violation of all service rules, it read.

It also pointed out that the Madras High Court Bench here had last month dismissed a case filed by him challenging his removal from DGE.

Im kept out

Reacting to the press release, Mr. Krishnaswamy said that he had been shifted from a statutory department to a less significant centre of excellence with the motive of keeping him away from the universitys Academic Council and Senate meetings. The authorities do not want any one to raise questions at such meetings and therefore the entire exercise of shunting me out is an attempt to curtail the voice of dissent, he said.

Claiming that he had been rightly appointed in DGE, he said: After shifting me out, the university has appointed another female professor as the head. But the irony remains that the incumbent was promoted as a Professor in 2010 on the basis of clearance given by a committee comprising me. If I am ineligible to be the HOD, then she too is ineligible because her professorship itself becomes questionable.

Mr. Krishnaswamy also said that he received a communication from the university on March 15, informing him that he had been relieved from the headship of DGE.

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An individual versus institution

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Public release date: 25-Jul-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, July 25, 2013While ovary removal during hysterectomy protects against future risk of ovarian cancer, the decision to conserve the ovaries and the hormones they produce may have advantages for preventing heart disease, hip fracture, sexual dysfunction, and cognitive decline. Other than a woman's cancer risk, the most important factor that should determine ovarian conservation vs. removal is her agewhether she is older or younger than 50according to a Review article published in Journal of Women's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Women's Health website at http://www.liebertpub.com/jwh.

Catherine Matthews, MD, University of North Carolina, Chapel Hill, emphasizes the difficult choice women must often make in the article "A Critical Evaluation of the Evidence for Ovarian Conservation Versus Removal at the Time of Hysterectomy for Benign Disease."

Conflicting data regarding the potential benefits of removing a woman's healthy ovaries at the time of a hysterectomy have led to confusion. When there is no acute reason to remove a woman's ovaries at the time of hysterectomy and she has no increased genetic risk for ovarian cancer, the accumulated data indicate that elective bilateral ovary removal should be discouraged in women younger than 50 years. The withdrawal of ovarian hormones can have negative health consequences in this population. However, in postmenopausal women, it is advisable to remove the ovaries to protect against ovarian cancer, as the medical literature shows that elective ovary removal is not likely to have an adverse effect on heart disease, hip fracture, sexual dysfunction, or cognitive function at this stage of a woman's life.

"As 600,000 hysterectomies for benign disease are performed annually in the U.S. alone, it is imperative that we have clear guidelines for retaining versus removing normal ovaries," says Susan G. Kornstein, MD, Editor-in-Chief of Journal of Women's Health, Executive Director of the Virginia Commonwealth University Institute for Women's Health, Richmond, VA, and President of the Academy of Women's Health.

###

About the Journal

Journal of Women's Health, published monthly, is a core multidisciplinary journal dedicated to the diseases and conditions that hold greater risk for or are more prevalent among women, as well as diseases that present differently in women. The Journal covers the latest advances and clinical applications of new diagnostic procedures and therapeutic protocols for the prevention and management of women's healthcare issues. Complete tables of content and a sample issue may be viewed on the Journal of Women's Health website at http://www.liebertpub.com/jwh. Journal of Women's Health is the Official Journal of the Academy of Women's Health and the Society for Women's Health Research.

About the Academy

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Should a woman's ovaries be removed during a hysterectomy for noncancerous disease?

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Scientists have long known that asthma and allergies, which are on the rise in children in the developed world, are caused by a combination of genetic and environmental factors.

What has stumped them, though, is which genes are responsible.

Now, in what is thought to be a scientific first, researchers at Johns Hopkins Childrens Center and the Johns Hopkins Institute of Genetic Medicine in Maryland have identified a genetic glitch they believe is at the root of a range of allergic disorders, from peanuts to pollen to bee stings.

As a result, the team is now investigating whether common drugs already widely prescribed for other conditions can halt or reverse allergic symptoms, including asthma, in animals.

This is a really huge breakthrough because we are finally getting at the root causes of these diseases, lead investigator Dr. Pamela Frischmeyer-Guerrerio, an immunologist at Johns Hopkins Childrens Center, said in an interview. That gives us a huge handle on how to develop new treatments.

According to researchers, the culprit is aberrant signalling abnormal communication between cells in a protein called transforming growth factor-beta. The protein, also known as TGF-beta, has widespread effects on the body, including the maturation of infants stomachs in a way that develops tolerances to common foods that might otherwise induce an allergic reaction, and prevents allergies in later life.

Disruptions in TGF-beta signalling does not simply nudge immune cells to misbehave, but appears to single-handedly unlock the very chain reaction that eventually leads to allergic disease, said Dr. Harry Dietz, a cardiologist at Johns Hopkins Childrens Center and senior investigator for the study.

The findings were published Wednesday in Science Translational Medicine.

Researchers became curious about the effects of TGF-beta over several years after noticing that patients with Loeys-Dietz Syndrome (named in part after the Johns Hopkins cardiologist) were more prone to allergies than most people. Loeys-Dietz is a rare condition marked by flimsy blood vessels and a dangerous stretching of the aorta that is caused in part by abnormal TGF-beta signalling.

Their study involved 58 children with Loeys-Dietz between the ages of seven and 20 with a history of allergies such as food allergies, rhinitis, eczema, asthma and gastrointestinal and esophageal allergic disease.

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Scientists discover a genetic glitch at the root of allergies

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Public release date: 24-Jul-2013 [ | E-mail | Share ]

Contact: Ekaterina Pesheva epeshev1@jhmi.edu 410-502-9433 Johns Hopkins Medicine

Newly published research by investigators at Johns Hopkins Children's Center and the Johns Hopkins Institute of Genetic Medicine reveals that a faulty genetic pathway already known for its role in some connective tissue disorders is also a potent player in many types of allergies.

Scientists have long understood that allergies are the result of a complex interplay between environment and genes, but now, in what investigators believe is a scientific first, a single genetic pathway has been implicated in an array of allergic disorders.

A report on the study's findings, published July 24 in Science Translational Medicine, shows that aberrant signaling by a protein called transforming growth factor-beta, or TGF-beta, may be responsible for disrupting the way immune cells respond to common foods and environmental allergens, leading to a wide range of allergic disorders.

TGF-beta is well known for its widespread effects in the body, from controlling how cells in a various organs grow and develop to overseeing how they communicate with one another. Mutations in the genes that lead to abnormal TGF-beta signaling are also keys to Marfan and Loeys-Dietz syndromes, genetic conditions marked by blood vessel laxity and dangerous stretching of the aorta, the body's largest blood vessel.

"We have evidence that the same glitch in TGF-beta that is responsible for some of the clinical manifestations seen in Marfan and Loeys-Dietz diseases also lies behind the cascade of events that culminates in the development of conditions like asthma, food allergies and eczema," says lead investigator Pamela Frischmeyer-Guerrerio, M.D., Ph.D., an immunologist at Johns Hopkins Children's Center.

Notably, the researchers add, their experiments suggest TGF-beta is more than a mere contributor in the disease process.

"Disruption in TGF-beta signaling does not simply nudge immune cells to misbehave but appears to singlehandedly unlock the very chain reaction that eventually leads to allergic disease," says senior investigator Harry "Hal" Dietz, M.D., a cardiologist at Johns Hopkins Children's Center, professor in the McKusick-Nathans Institute of Genetic Medicine at Hopkins and director of the William S. Smilow Center for Marfan Research.

The researchers' curiosity about a wider role for TGF-beta was ignited years ago when they first noticed that patients with Loeys-Dietz syndrome (LDS) had higher than normal rates of allergies.

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PHILADELPHIA A researcher from the Perelman School of Medicine at the University of Pennsylvania and colleagues have identified the genetic mutation in Africans with HIV that puts them at a much higher risk for tuberculosis (TB) infections.

Africans have some of the highest rates of TB in the world, and it has long been suspected that genetic susceptibility plays a role. However, establishing candidate genes across populations to gauge risk has remained a challenge.

Now, a new study, published this week in the online Early Edition of the Proceedings of the National Academy of Sciences, found that a commonly occurring polymorphism in an immune response gene called macrophage migration inhibitory factor (MIF) confers almost a two-and-a-half fold increased risk for severe TB in patients from Uganda who were co-infected with HIV.

Low-expressers of MIF were almost twice as common among people of African ancestry as Caucasians.

These results help explain the increased incidence of TB among this group, said Rituparna Das, MD, PhD, an instructor in the division of Infectious Diseases at Penn Medicine. Moreover, this is especially important in people co-infected with HIV, who have a compromised immune system and also constitute the major public health challenge of controlling TB.

TBs prevalence is rising because of drug resistance and an increasing number of patients who are co-infected with HIV. People with HIV and latent TB infection are at a much higher risk for progressing to active TB disease, so identifying patients earlier and getting them in preventative TB treatments is a priority.

Therapies to augment MIF action are under development, and may provide a new tool to combat the global TB epidemic, said Dr. Das.

Recently, Dr. Das received funding from the Penn Center for AIDS Research to further examine MIF in Botswana. The pilot project will examine the distribution of MIF genetic polymorphisms among HIV co-infected patients with pulmonary TB from the Botswana-UPenn Partnership site.

With the high degree of TB exposure in that community, we hope to identify which patients are more likely to go on to develop active TB disease, and in the future, target these patients for preventive therapies, said Dr. Das.

The research published in PNAS was supported by the National Institutes of Health and the Burrough Wellcome Fund. A release on the PNAS study can also be found here.

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Study Explains Why Africans May be More Susceptible to Tuberculosis

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BROOMFIELD, Colo.--(BUSINESS WIRE)--

ARCA biopharma, Inc. (ABIO), a biopharmaceutical company developing genetically-targeted therapies for cardiovascular diseases, today announced the Steering Committee for GENETIC-AF, the Companys Phase 2B/3 trial evaluating GencaroTM (bucindolol hydrochloride) as a potential treatment for atrial fibrillation. The Steering Committee is comprised of experts in the field of cardiology and electrophysiology, particularly in clinical development.

Stuart Connolly, MD, Director of the Division of Cardiology at McMaster University in Hamilton, Ontario, has been appointed Chairman of the Steering Committee. William T. Abraham, MD, Director of the Division of Cardiovascular Medicine at The Ohio State University Wexner Medical Center, has been appointed co-Chair of the Steering Committee.

The Steering Committee of GENETIC-AF provides a balance of atrial fibrillation and heart failure clinical trials expertise, with each member being an expert in one or the other or both, said Dr. Michael R. Bristow, President and Chief Executive Officer of ARCA. We are delighted to have Dr. Connolly chair the Steering Committee. He brings a wealth of experience over a distinguished career in the field of electrophysiology, particularly in clinical trials in atrial fibrillation, which makes him a natural fit to help guide the development of Gencaro. Dr. Abraham is also an expert in heart failure clinical investigation and brings a background of leadership in both drug and device trials in chronic heart failure populations. Thus, GENETIC-AF will have the benefit of trial leadership that is at the forefront of both atrial fibrillation and heart failure outcome trials."

I am honored to participate in the GENETIC-AF trial, an innovative approach to evaluating the potential efficacy of Gencaro as a treatment for atrial fibrillation, said Dr. Connolly. "Atrial fibrillation is a growing problem where current medical therapy does not provide adequate treatment, particularly in heart failure populations. I look forward to working with the teams at ARCA and Medtronic to advance a potential new treatment for patients at high risk for developing, or living with, atrial fibrillation.

Dr. Abraham said, "I am pleased to be closely involved with the GENETIC-AF trial, which explores new territory on two important fronts: prospective identification of a genetic subpopulation potentially more responsive to a cardiovascular drug, and demonstration that a drug, in this case Gencaro, may be safe and effective in preventing atrial fibrillation in the unmet need population of heart failure with reduced left ventricular ejection fraction."

Additional Steering Committee members are:

The Steering Committee will provide scientific oversight for the GENETIC-AF trial as well as communicate its recommendations regarding trial conduct with the trials Data Safety Monitoring Board.

GENETIC-AF Clinical Trial

GENETIC-AF is planned as a Phase 2B/3, multi-center, randomized, double-blind clinical trial comparing Gencaro to metoprolol CR/XL for prevention of AF in patients with heart failure and reduced left ventricular ejection fraction (HFREF). ARCA plans to enroll only patients with the genetic variant of the beta-1 cardiac receptor which the Company believes responds most favorably to Gencaro. GENETIC-AF has an adaptive design, under which the Company plans to initiate it as a Phase 2B study in approximately 200 patients and then, depending on the results of an interim analysis by the trial Data Safety Monitoring Board (DSMB), expand the trial to a Phase 3 study by enrolling an estimated additional 420 patients. The Company anticipates that patient enrollment in GENETIC-AF will begin in the first quarter of 2014.

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ARCA biopharma Announces Steering Committee for GENETIC-AF Trial

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Newswise Newly published research by investigators at the Johns Hopkins Children's Center and the Johns Hopkins Institute of Genetic Medicine reveals that a faulty genetic pathway already known for its role in some connective tissue disorders is also a potent player in many types of allergies.

Scientists have long understood that allergies are the result of a complex interplay between environment and genes, but now, in what investigators believe is a scientific first, a single genetic pathway has been implicated in an array of allergic disorders.

A report on the study's findings, published July 24 in Science Translational Medicine, shows that aberrant signaling by a protein called transforming growth factor-beta, or TGF-beta, may be responsible for disrupting the way immune cells respond to common foods and environmental allergens, leading to a wide range of allergic disorders.

TGF-beta is well known for its widespread effects in the body, from controlling how cells in various organs grow and develop to overseeing how they communicate with one another. Mutations in the genes that lead to abnormal TGF-beta signaling are also keys to Marfan and Loeys-Dietz syndromes, genetic conditions marked by blood vessel laxity and dangerous stretching of the aorta, the body's largest blood vessel.

"We have evidence that the same glitch in TGF-beta that is responsible for some of the clinical manifestations seen in Marfan and Loeys-Dietz diseases also lies behind the cascade of events that culminates in the development of conditions like asthma, food allergies and eczema," says lead investigator Pamela Frischmeyer-Guerrerio, M.D., Ph.D., an immunologist at Johns Hopkins Children's Center.

Notably, the researchers add, their experiments suggest TGF-beta is more than a mere contributor in the disease process.

"Disruption in TGF-beta signaling does not simply nudge immune cells to misbehave but appears to singlehandedly unlock the very chain reaction that eventually leads to allergic disease," says senior investigator Harry "Hal" Dietz, M.D., a cardiologist at Johns Hopkins Children's Center, professor in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins and director of the William S. Smilow Center for Marfan Research.

The researchers' curiosity about a wider role for TGF-beta was ignited years ago when they first noticed that patients with Loeys-Dietz syndrome (LDS) had higher than normal rates of allergies.

The present study involved 58 children with LDS, ages 7 to 20, followed at Johns Hopkins. Most of them had either a history of allergic disease or active allergies, like allergic rhinitis, eczema, food allergies, asthma, and gastrointestinal and esophageal allergic disease. Not surprisingly, these patients also had abnormally high levels of several traditional markers of allergic disease, including IgE -- an antibody that drives life-threatening allergic responses -- and high numbers of eosinophils, white blood cells involved in allergic reactions.

Because TGF-beta is known to control immune cell maturation, the researchers homed in on a group of cells known as regulatory T cells, which keep tabs on other immune cells to ensure that they don't go into overdrive. LDS patients had unusually high levels of regulatory T cells, but the real surprise came when researchers noticed that instead of acting in their regular role as inflammation tamers, the regulatory T cells were doing the opposite -- secreting allergy-promoting signaling molecules called cytokines. Regulatory T cells obtained from patients with known allergies but without LDS were misbehaving in much the same way, a finding that suggests TGF-beta may induce immune cell malfunction even in the absence of LDS, the researchers say.

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Researchers Reveal Genetic Glitch at the Root of Allergies

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Single Genetic Glitch May Explain Most Allergies and Asthma

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July 24, 2013 Newly published research by investigators at Johns Hopkins Children's Center and the Johns Hopkins Institute of Genetic Medicine reveals that a faulty genetic pathway already known for its role in some connective tissue disorders is also a potent player in many types of allergies.

Scientists have long understood that allergies are the result of a complex interplay between environment and genes, but now, in what investigators believe is a scientific first, a single genetic pathway has been implicated in an array of allergic disorders.

A report on the study's findings, published July 24 in Science Translational Medicine, shows that aberrant signaling by a protein called transforming growth factor-beta, or TGF-beta, may be responsible for disrupting the way immune cells respond to common foods and environmental allergens, leading to a wide range of allergic disorders.

TGF-beta is well known for its widespread effects in the body, from controlling how cells in a various organs grow and develop to overseeing how they communicate with one another. Mutations in the genes that lead to abnormal TGF-beta signaling are also keys to Marfan and Loeys-Dietz syndromes, genetic conditions marked by blood vessel laxity and dangerous stretching of the aorta, the body's largest blood vessel.

"We have evidence that the same glitch in TGF-beta that is responsible for some of the clinical manifestations seen in Marfan and Loeys-Dietz diseases also lies behind the cascade of events that culminates in the development of conditions like asthma, food allergies and eczema," says lead investigator Pamela Frischmeyer-Guerrerio, M.D., Ph.D., an immunologist at Johns Hopkins Children's Center.

Notably, the researchers add, their experiments suggest TGF-beta is more than a mere contributor in the disease process.

"Disruption in TGF-beta signaling does not simply nudge immune cells to misbehave but appears to singlehandedly unlock the very chain reaction that eventually leads to allergic disease," says senior investigator Harry "Hal" Dietz, M.D., a cardiologist at Johns Hopkins Children's Center, professor in the McKusick-Nathans Institute of Genetic Medicine at Hopkins and director of the William S. Smilow Center for Marfan Research.

The researchers' curiosity about a wider role for TGF-beta was ignited years ago when they first noticed that patients with Loeys-Dietz syndrome (LDS) had higher than normal rates of allergies.

The present study involved 58 children with LDS, ages 7 to 20, followed at Johns Hopkins. Most of them had either a history of allergic disease or active allergies, like allergic rhinitis, eczema, food allergies, asthma, and gastrointestinal and esophageal allergic disease. Not surprisingly, these patients also had abnormally high levels of several traditional markers of allergic disease, including IgE -- an antibody that drives life-threatening allergic responses -- and high numbers of eosinophils, white blood cells involved in allergic reactions.

Because TGF-beta is known to control immune cell maturation, the researchers homed in on a group of cells known as regulatory T cells, which keep tabs on other immune cells to ensure that they don't go into overdrive. LDS patients had unusually high levels of regulatory T cells, but the real surprise came when researchers noticed that instead of acting in their regular role as inflammation tamers, the regulatory T cells were doing the opposite -- secreting allergy-promoting signaling molecules called cytokines. Regulatory T cells obtained from patients with known allergies but without LDS were misbehaving in much the same way, a finding that suggests TGF-beta may induce immune cell malfunction even in the absence of LDS, the researchers say.

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Genetic glitch at the root of allergies revealed

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LEAGUS - Genetics
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RUTHERFORD, N.J.--(BUSINESS WIRE)--

Cancer Genetics, Inc. (CGIX) ("CGI" or the "Company"), an emerging leader in DNA-based cancer diagnostics, today announced that its board of directors has increased the board to eight directors and appointed Keith L. Brownlie to serve on the board and its audit committee.

Mr. Brownlie worked with the accounting firm of Ernst & Young LLP, from 1974 to 2010, where he served as audit partner for numerous public companies and was the Life Science Industry Leader for the New York Metro Area, where he was involved with over 100 public and private financings and M&A transactions. He received a B.S. in Accounting from Lehigh University and is a Certified Public Accountant in the state of New Jersey.

Mr. Brownlie co-founded the New Jersey Entrepreneur of the Year Program and was Vice President and Trustee of the New Jersey Society of CPAs. In addition, he served as accounting advisor to the board of the Biotechnology Council of New Jersey. Mr. Brownlie currently serves as a member of the Board of Directors of Soligenix, Inc., a publicly-traded biopharmaceutical company, Epicet Corporation, a publicly-traded specialty pharmaceutical company and RXi Pharmaceuticals Corporation, a publicly-traded biotechnology company.

About Cancer Genetics, Inc.

Cancer Genetics, Inc. (CGI) is an emerging leader in DNA-based cancer diagnostics and servicessome of the most prestigious medical institutions in the world. Our tests target cancers that are difficult to diagnose and predict treatment outcomes. These cancers include hematological, urogenital and HPV-associated cancers. We also offer a comprehensive range of non-proprietary oncology-focused tests and laboratory services that provide critical genomic information to healthcare professionals as well as biopharma and biotech. Our state-of-the-art reference lab is focused entirely on maintaining clinical excellence and is both CLIA certified and CAP accredited and has licensure from several states including New York State. CGI has established strong research collaborations with major cancer centers such as Memorial Sloan-Kettering, The Cleveland Clinic, Mayo Clinic and the National Cancer Institute. For further information, please seewww.cancergenetics.com.

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Cancer Genetics Appoints New Member to Board of Directors

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Let #39;s Play Metal Gear Solid - Part 3 Darpa Chief
During a training mission on Shadow Moses Island in February 2005, at a nuclear weapons facility on a remote island off the coast of Alaska, FOXHOUND and the...

By: LiverpoolLFCForLife

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