Some doctors are asking if athletes should be genetically tested to see if they are at a greater risk for developing Alzheimer's disease or dementia.

Dr. Steven DeKosky is the dean of the University of Virginia School of Medicine. He says there is more evidence that suggests repeated head injuries can cause memory loss later in life, and genes could play a role in increasing the risk.

According to Dr. DeKosky, there are ethical concerns about telling people what their genetic makeup is because it doesn't necessarily confirm they will develop memory loss diseases.

"We have a difficult habit of thinking that if I have this particular variant of a gene that I'm going to get the disease and if I don't have it I'm not going to get the disease and they're not that predictive," Dr. DeKosky said.

An informal poll taken of experts in Alzheimer's disease and traumatic brain injury revealed 45% thought it was too early to introduce genetic testing in schools, and that more information is needed to discuss how the genetic testing would be useful.

There are more than five million Americans living with Alzheimer's disease. This year alone caring for those patients will cost an estimated $200 billion.

Dr. DeKosky said efforts need to be made to find a way to delay or stop the progression of the disease in hopes of reducing those costs.

"If we could delay the disease by five years, several decades down the line we would have 50% fewer cases," says Dr. DeKosky.

See the rest here:
Genetic Testing for Athletes

Recommendation and review posted by Bethany Smith

Editor's Choice Main Category: Genetics Article Date: 09 Jul 2012 - 12:00 PDT

Current ratings for: Gene Discovered By Scientists Linked To Facial Abnormalities

The finding was published in The American Journal of Human Genetics and was conducted by Dr. Hyung-Goo Kim, molecular geneticist at the Medical College of Georgia at Georgia Health Sciences University and his team.

The researchers discovered the PHG21A mutated gene in patients with Potocki-Shaffer syndrome, a rare disorder that can result in significant abnormalities, like a small head and chin as well as intellectual disability.

The researchers conducted experiments in zebrafish, which developed similar head and brain abnormalities to those found in humans and discovered that their findings were confirmed when they suppressed the PHF21A gene in zebrafish.

Dr. Kim explained:"With less PHF21A, brain cells died, so this gene must play a big role in neuron survival."

To reconfirm their finding, the team inserted the gene back into the malformed fish, which subsequently became normal. The gene was also found in the craniofacial area of normal mice. Even though it is impossible to cure humans just by re-inserting the normal gene as is possible in zebrafish, the researchers believe that their finding will, in the future, allow genetic screening and possibly early intervention during fetal development, as well as treatments to increase PHF21A levels. In addition, the finding provides more insight into a better understanding of face, skull and brain formation.

The team focused on the gene when they used a distinctive chromosomal break found in patients with Potocki-Shaffer syndrome as a starting point. Chromosomes, i.e. packages of DNA and protein, are not supposed to break. However, when they do, they can damage nearby genes. Co-author of the study, Dr. Lawrence C. Layman, who is Chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics, explained: "We call this breakpoint mapping and the breakpoint is where the trouble is."

Damaged genes can no longer retain their optimum function. In PHF21A's case for instance the functionality is reduced to about half of the norm.

Layman continues: "When you see the chromosome translocation, you don't know which gene is disrupted. You use the break as a focus then use a bunch of molecular techniques to zoom in on the gene."

Go here to read the rest:
Gene Discovered By Scientists Linked To Facial Abnormalities

Recommendation and review posted by Bethany Smith

CLARENCE, N.Y.--(BUSINESS WIRE)--

22nd Century Group, Inc. (OTCBB: XXII), a company that has developed groundbreaking technology for tobacco harm reduction and smoking cessation products, today announced that the State Intellectual Property Office of the People's Republic of China issued a Notice of Allowance and IP Australia issued a patent to the company for the NBB gene, a gene responsible for nicotine production in the tobacco plant.

International Patent Application PCT/IB2006/001741, from which the Chinese and Australian national-phase patents were derived, covers methods for producing tobacco plants with reduced nicotine levels and tobacco products produced therefrom. Besides nicotine, NBB is also responsible for the production of other nicotinic alkaloids, such as anatabine and anabasine.

The NBB gene encodes a protein involved in the final step of nicotine biosynthesis, nicotine synthase, which has eluded scientists for decades. This protein can either be down-regulated or up-regulated to produce tobacco varieties with a wide range of nicotine levels. Dr. Takashi Hashimoto of the Nara Institute of Science and Technology (NAIST), a world-renowned plant molecular biologist, is an inventor of the NBB technology. 22nd Century funded research and development at NAIST from 2005 to 2009 and NAIST assigned various related patent families to 22nd Century in 2010, including the NBB technology. International Patent Application PCT/IB2006/004043 covers methods utilizing NBB for producing tobacco plants and products with increased nicotine levels.

The companys vice president of research and development, Dr. Michael Moynihan stated, The NBB gene technology is one of the keystones of 22nd Centurys intellectual property and represents our second-generation gene technology that has significant advantages over our earlier technology. Specifically, the sole function of NBB is to produce nicotine and other nicotinic alkaloids.

22nd Century expects the NBB gene technology to play an important role in reducing the harm caused by smoking. The company announced on April 10, 2012 that it will file applications with the U.S. Food and Drug Administration (FDA) for two types of modified risk cigarettes in accordance with the FDAs Modified Risk Tobacco Product Applications Draft Guidance. A presentation titled, Effect of Smoking Low Tar-to-Nicotine Ratio Cigarettes on Smoke Exposure, will be given by 22nd Century Group at the 66th Tobacco Science Research Conference being held in Concord, North Carolina on September 9-12. The presentation will summarize 22nd Centurys planned exposure study on one of its two modified-risk cigarette candidates.

22nd Century owns or is the exclusive licensee of 102 issued patents in 78 countries plus an additional 37 pending patent applications mainly related to all of the key nicotine biosynthesis genes and the potential modified risk tobacco products produced therefrom. 22nd Century owns or is the exclusive licensee of 6 patents in China plus 2 pending patent applications and 5 patents in Australia. Additional patent applications will be filed by the company in both countries. China is the largest tobacco market in the world that consumes more than 2 trillion cigarettes per year.

For additional information, please visit: http://www.xxiicentury.com

Cautionary Note Regarding Forward-Looking Statements: This press release contains forward-looking information, including all statements that are not statements of historical fact regarding the intent, belief or current expectations of 22nd Century Group, Inc., its directors or its officers with respect to the contents of this press release. The words may, would, will, expect, estimate, anticipate, believe, intend and similar expressions and variations thereof are intended to identify forward-looking statements. We cannot guarantee future results, levels of activity or performance. You should not place undue reliance on these forward-looking statements, which speak only as of the date that they were made. These cautionary statements should be considered with any written or oral forward-looking statements that we may issue in the future. Except as required by applicable law, including the securities laws of the United States, we do not intend to update any of the forward-looking statements to conform these statements to reflect actual results, later events or circumstances or to reflect the occurrence of unanticipated events. You should carefully review and consider the various disclosures made by us in our annual report on Form 10-K for the fiscal year ended December 31, 2011, filed on April 16, 2012, including the section entitled Risk Factors, and our other reports filed with the U.S. Securities and Exchange Commission which attempt to advise interested parties of the risks and factors that may affect our business, financial condition, results of operation and cash flows. If one or more of these risks or uncertainties materialize, or if the underlying assumptions prove incorrect, our actual results may vary materially from those expected or projected.

Read more here:
Chinese and Australian Patents Allowed for 22nd Century’s NBB Nicotine Biosynthesis Gene

Recommendation and review posted by Bethany Smith

Public release date: 9-Jul-2012 [ | E-mail | Share ]

Contact: Deborah Mann Lake deborah.m.lake@uth.tmc.edu 713-500-3030 University of Texas Health Science Center at Houston

HOUSTON (July 9, 2012) Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome.

Genome-wide analysis of two unrelated families, one in the United States and one in France, identified mutations in transforming growth factor beta-2 (TGFB2), which plays a key role in the formation of cells in the walls of arteries. These changes can affect the ability of these cells that line the aorta and other blood vessels to function properly, leading to aortic aneurysms and dissections and intracranial aneurysms. Other systemic signs of the new syndrome include groin hernias, pectus deformities, joint hyperflexibility, mitral valve prolapse and skin stretch marks.

The findings were published in the July 8 online of the journal Nature Genetics. The French team included researchers from the Assistance Publique Hopitaux de Paris and the Institut National de la Sante et de la Recherche Medicle (INSERM).

"Identifying this gene as a cause of aortic and intracranial aneurysms can tell us who is at risk in a family before these aneurysms cause an acute aortic dissection or stroke," said Dianna Milewicz, M.D., Ph.D., professor, the President George H.W. Bush Chair in Cardiovascular Research and director of the Division of Medical Genetics at the UTHealth Medical School. "If we know who is at risk, we can prevent these life-threatening complications of these aneurysms before they occur and prevent premature death or disability."

Milewicz is the senior author of the paper, a multi-institutional collaboration. The lead author is Catherine Boileau of INSERM.

Incorrect function of the cells can cause a weakness in the wall of the thoracic aorta, which carries blood from the heart to the rest of the body. The result can be an aneurysm which can lead to a dissection and cause sudden death. An estimated 8,000 people die annually from thoracic aortic aneurysms and dissections (TAAD). Intracranial aneurysms occur in up to 6 percent of adults and are more common in women. Both types of aneurysms are typically asymptomatic and often undetected until a dissection or rupture occurs. Intracranial aneurysms that rupture and bleed into the brain, known as hemorrhagic stroke, have a mortality rate of up to 50 percent, according to the American Heart Association.

For the UTHealth research team, this is the fifth gene defect discovery for thoracic aortic aneurysms and the second with a link to both thoracic aortic aneurysms and intracranial aneurysms.

The researchers found that although the defect caused half of the normal amount of TGFB2 protein, called TGF-beta2, at the cellular level, the actual diseased arteries showed a large increase in TGF-beta2. "So we believe the body responds to less TGF-beta2 by overcompensating and producing more, causing the disease," said Milewicz, who is also director of the John Ritter Research Program Aortic and Vascular Diseases at UTHealth. "The primary defect is less TGF-beta2 with a secondary response to make more."

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UTHealth, French researchers discover gene defect for new syndrome

Recommendation and review posted by Bethany Smith

Two postings back, I promised a commenter called Sierkovitz that I would discuss epigenetics. This is an important subject with major implications for understanding natural genetic engineering in evolution. So here is the first of at least three related blogs.

"Epigenetics" literally means "over or above genetics." It refers to hereditary changes in genome expression that do not involve alteration of DNA sequences.

Contemporary ideas about epigenetics have two independent historical sources that have subsequently merged in a remarkably satisfying way. The first source was theorizing about cell differentiation and morphogenesis by Conrad "Hal" Waddington, one of the most imaginative and penetrating mid-20th-century geneticists. Waddington realized that a heritable control process was necessary for cells with the same genome to form tissues containing different kinds of cells. In 1942 he called this the "epigenotype," meaning a higher-level regime placed over the genome during development so that different sequences could be expressed in distinct cell types.

The second source of epigenetic ideas came from observations on DNA packaging in the cell. The DNA in our cells would be over 6 feet in length if stretched out, but the nucleus is only about 1 ten-thousandth of an inch across. Clearly, our genomes are densely compacted to fit in such a small volume. Moreover, the packing has to be highly organized so that replication, transcription, chromosome movements, and all other genome functions proceed smoothly.

The historical reality is that cytogeneticists (literally, cell geneticists) had been observing DNA compaction since the 19th century through their microscopes. They described various forms of "chromatin" (i.e., colored material) along the length of chromosomes. The prefix "chroma-" refers to the coloration of chromosomes by various stains used to make them visible. Normal staining was called "euchromatin" (i.e., "true" chromatin), and darker staining was called "heterochromatin" (i.e., "different" chromatin).

Using distinguishable chromatin regions in her maize stocks, the pioneer cytogeneticist Barbara McClintock and her student Harriet Creighton were the first to demonstrate that chromosome physical structure corresponds to a genetic linkage map. From studying what was initially considered a marginal phenomenon in genetics, "position effect variegation," geneticists came to understand that differences between eu- and heterochromatin had a profound impact on genome expression.

Today, we understand that the molecular basis of DNA compaction into chromatin provides the epigenetic control system that Waddington first postulated in the 1940s. The way the chromatin forms regulates how accessible the chromosomal DNA is to proteins and RNA molecules that carry out replication, transcription, repair, recombination, natural genetic engineering, and attachment of protein motors and filaments for moving the genome within the nucleus.

During cell differentiation and development, distinct cell types "index" different regions of the genome into expressed and unexpressed chromatin domains. Thus, the set of encoded functions can be "canalised" (Waddington's term, with British spelling) into those appropriate for each specialized cell type. There are special signals and processes that punctuate the genome for formation into chromatin domains that may span a significant number of separate coding regions.

DNA in chromatin is modified chemically and compacted in two ways:

Cells control chromatin structure exquisitely. They have a chromatin formatting and reformatting system that is a wonder of molecular signaling and control. There are arrays of specialized "chromatin-formatting" enzymes that add or remove methyl groups from the DNA and other enzymes that add or remove various chemical groups from specific amino acids in the "tails" of the histones that peak out from the nucleosomes. These covalent (stable) chemical modifications of the DNA and the histones constitute an intricate code that the cell can read to determine the accessibility status of the underlying DNA, independently of its sequence.

Read more from the original source:
James A. Shapiro: Epigenetics I: Turning a DNA Packaging Problem Into a Developmental Control System

Recommendation and review posted by Bethany Smith

(Phys.org) -- The purple sea urchin could help develop cures for diseases such as Alzheimers and cancer, scientists at the University of St Andrews have discovered.

Creatures, such as the sea urchin and sponge, have been discovered to have a special genetic sequence previously only thought to be used by certain viruses.

Now these sea creatures could inform scientists how to produce a therapeutic response in our own cells.

This latest finding builds on the earlier discovery of a short genetic sequence (2A) caused by viruses which can be used to return cells to a stem-cell like state allowing them to be manipulated and used for special treatments.

Martin Ryan, Professor of Translational Virology at the University of St Andrews, was the key researcher in that discovery.

He said: You could put two or more different genes into one cell, but each individual gene would be expressed at very different levels.

This process allows you to daisy-chain multiple genes into a single gene, but the different proteins made from each part of the new gene are expressed at the same level and within the same cell - which is a massive step forward.

This sequence was first discovered in Foot-and-Mouth Disease Virus, but we now know it is found in many other types of virus. This sequence has been used (by other researchers) in human gene therapy clinical trials to treat a number of cancers: metastatic melanoma, for example. It has also been used to produce human pluripotent stem cells a very important step in regenerative medicine, a treatment in which damaged tissues can be replaced.

It is now possible to take cells from a patient and drive them back into a stem cell state. These patient-specific stem cells could be used to treat a very wide range of diseases - Parkinsons Disease, Alzheimers, heart disease among others.

Prof Ryan added: Since our initial discovery, over the last four or five years the use of this sequence has gone through the roof. There have been more than 560 academic papers published using this new biotechnology.

Read more:
Sea urchins could contain the genetic key to curing some diseases

Recommendation and review posted by Bethany Smith

Newswise ST. LOUIS -- In research funded by the National Institutes of Health and the American Heart Association and published in EMBO Molecular Medicine, Saint Louis University investigator ngel Baldn, Ph.D., found that the microRNA miR-33 plays a key role in regulating bile metabolism. Further, the research suggests that, in an animal model, the manipulation of this microRNA can improve the liver toxicity that can be caused by statins.

As we learn more about the way cholesterol is moved and metabolized through the body, we have more tools at our disposal to try to limit potential side effects of cholesterol-managing drugs like statins, said Baldn, who is assistant professor of biochemistry and molecular biology at Saint Louis University.

This study continues Baldns exploration of the microRNA miR-33, which is expressed from within SREBP-2, an important gene in the body that previously had been shown to regulate cholesterol metabolism. In earlier research, the Baldn laboratory found that miR-33 plays a key role in regulating cholesterol. In particular, his team found that decreasing the levels of the microRNA (which is a piece of genetic coding) helped to raise HDL, or good cholesterol, in an animal model. Five laboratories, including Baldans, simultaneously reported these results in 2010.

Now, as Baldn continues to study the role of miR-33, he has examined two particular bile transporters, ABCB11 and ATP8B1, and found that miR-33 directly regulates these transporters. The research team found that when they silenced miR-33, turning off the microRNAs signal, they caused increases in bile secretion from the liver, so more bile was recovered in the gallbladder.

Further confirming the suspicion that this pathway was responsible for regulating the flow of bile, researchers treated two groups of mice with an anti-miR-33 drug and tracked radioactively labeled cholesterol as it moved through and was eliminated by these animals.

We hypothesized we should see changes in the amount of radioactivity in the cholesterol that was eliminated in the mices feces, depending on whether they were given placebo or anti-miR-33, Baldn said. That is in fact what we found. When the microRNA is silenced, the pathway is enhanced and more cholesterol is passed through.

Bile is produced by the liver to help the body digest dietary lipids. Bile is itself made up, in part, of cholesterol and cholesterol-derived bile acids, and it also serves a key function in controlling the bodys balance of cholesterol.

When the body doesnt secrete and transport bile well, due to an obstruction like a gallstone, or, as examined in this study, because of a genetic variation or medication side effect, bile cannot flow from the liver to the small intestine. The resulting blockage causes cholestasis, a kind of liver damage.

In the final segment of the study, researchers took note of a genetic condition, called progressive familial intrahepatic cholestasis (PFIC), an inherited disease that causes cholestasis and can lead to liver failure. PFIC is caused by defects in the biliary transporters, such as ABCB11 and ATP8B1, the very genes that are regulated by miR-33. Interestingly, the same group of symptoms can occur in a less severe form, called benign recurrent intrahepatic cholestasis (BRIC) in some people with less severe genetic mutations.

Intriguingly, a very small number of patients who take statins develop a syndrome identical to BRIC, a milder version of the same illness experienced by people who have the genetic disease PFIC, Baldn said. In this case, though, statins caused the condition pharmacologically.

More here:
Turning Off Key Piece of Genetic Coding Eliminates Toxic Effect of Statins

Recommendation and review posted by Bethany Smith

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

Knome Inc., the human genome interpretation company, announced today that a leading clinical geneticist, Heidi Rehm, PhD, has joined the companys scientific advisory board.

Dr. Rehm is highly respected and influential figure in clinical genomics, said Martin Tolar, MD, PhD, Chief Executive Officer of Knome. We are very pleased to welcome Dr. Rehm to our scientific advisory board and look forward to her guidance as we deploy our informatics and interpretation technology into the clinic.

Dr. Rehm is a board-certified clinical geneticist who is currently Chief Laboratory Director of theLaboratory for Molecular Medicine at Partners HealthCare Center for Personalized Genetic Medicine as well as Assistant Professor of Pathology and Director of the Clinical Molecular Genetics Training Program at Harvard Medical School. Her research focuses on the rapid translation of new genetic discoveries into clinical tests and on bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use. Dr. Rehm also conducts research on hearing loss, Usher syndrome, cardiomyopathy and the use of information technology in enabling personalized medicine. She received a PhD in Genetics from Harvard University and conducted postdoctoral work in Neurobiology, followed by a fellowship at Harvard Medical School in Clinical Molecular Genetics.

Knome has assembled a first-class team of scientific, engineering, and business leadersall focused on tackling a challenging but critically important missionthe interpretation of human genomes for medical and biological relevance, said Dr. Rehm. I am pleased to join Knomes scientific advisory board and look forward to guiding the company as it pursues this mission.

Heidi Rehm joins other members of Knomes scientific advisory board:

About Knome

Knome Inc. (www.knome.com) is a leading provider of human genome interpretation software and services. Clients use our innovative solutions to identify the genetic basis of disease, tumor growth, and drug response. Designed to accelerate the process of interpreting whole genomes and enable the clinical application of genomic findings, Knomes technologies are helping to pave the healthcare industrys transition to molecular-based, personalized medicine.

Excerpt from:
Knome Appoints Heidi L. Rehm, PhD, to Scientific Advisory Board

Recommendation and review posted by Bethany Smith

Public release date: 9-Jul-2012 [ | E-mail | Share ]

Contact: Carrie Bebermeyer bebermcl@slu.edu 314-977-8015 Saint Louis University

ST. LOUIS -- In research funded by the National Institutes of Health and the American Heart Association and published in EMBO Molecular Medicine, Saint Louis University investigator ngel Baldn, Ph.D., found that the microRNA miR-33 plays a key role in regulating bile metabolism. Further, the research suggests that, in an animal model, the manipulation of this microRNA can improve the liver toxicity that can be caused by statins.

"As we learn more about the way cholesterol is moved and metabolized through the body, we have more tools at our disposal to try to limit potential side effects of cholesterol-managing drugs like statins," said Baldn, who is assistant professor of biochemistry and molecular biology at Saint Louis University.

This study continues Baldn's exploration of the microRNA miR-33, which is expressed from within SREBP-2, an important gene in the body that previously had been shown to regulate cholesterol metabolism. In earlier research, the Baldn laboratory found that miR-33 plays a key role in regulating cholesterol. In particular, his team found that decreasing the levels of the microRNA (which is a piece of genetic coding) helped to raise HDL, or "good cholesterol," in an animal model. Five laboratories, including Baldan's, simultaneously reported these results in 2010.

Now, as Baldn continues to study the role of miR-33, he has examined two particular bile transporters, ABCB11 and ATP8B1, and found that miR-33 directly regulates these transporters. The research team found that when they silenced miR-33, turning off the microRNA's signal, they caused increases in bile secretion from the liver, so more bile was recovered in the gallbladder.

Further confirming the suspicion that this pathway was responsible for regulating the flow of bile, researchers treated two groups of mice with an anti-miR-33 drug and tracked radioactively labeled cholesterol as it moved through and was eliminated by these animals.

"We hypothesized we should see changes in the amount of radioactivity in the cholesterol that was eliminated in the mice's feces, depending on whether they were given placebo or anti-miR-33," Baldn said. "That is in fact what we found. When the microRNA is silenced, the pathway is enhanced and more cholesterol is passed through."

Bile is produced by the liver to help the body digest dietary lipids. Bile is itself made up, in part, of cholesterol and cholesterol-derived bile acids, and it also serves a key function in controlling the body's balance of cholesterol.

When the body doesn't secrete and transport bile well, due to an obstruction like a gallstone, or, as examined in this study, because of a genetic variation or medication side effect, bile cannot flow from the liver to the small intestine. The resulting blockage causes cholestasis, a kind of liver damage.

See more here:
Turning off key piece of genetic coding eliminates toxic effect of statins, SLU research finds

Recommendation and review posted by Bethany Smith

ScienceDaily (July 9, 2012) In research funded by the National Institutes of Health and the American Heart Association and published in EMBO Molecular Medicine, Saint Louis University investigator ngel Baldn, Ph.D., found that the microRNA miR-33 plays a key role in regulating bile metabolism. Further, the research suggests that, in an animal model, the manipulation of this microRNA can improve the liver toxicity that can be caused by statins.

"As we learn more about the way cholesterol is moved and metabolized through the body, we have more tools at our disposal to try to limit potential side effects of cholesterol-managing drugs like statins," said Baldn, who is assistant professor of biochemistry and molecular biology at Saint Louis University.

This study continues Baldn's exploration of the microRNA miR-33, which is expressed from within SREBP-2, an important gene in the body that previously had been shown to regulate cholesterol metabolism. In earlier research, the Baldn laboratory found that miR-33 plays a key role in regulating cholesterol. In particular, his team found that decreasing the levels of the microRNA (which is a piece of genetic coding) helped to raise HDL, or "good cholesterol," in an animal model. Five laboratories, including Baldan's, simultaneously reported these results in 2010.

Now, as Baldn continues to study the role of miR-33, he has examined two particular bile transporters, ABCB11 and ATP8B1, and found that miR-33 directly regulates these transporters. The research team found that when they silenced miR-33, turning off the microRNA's signal, they caused increases in bile secretion from the liver, so more bile was recovered in the gallbladder.

Further confirming the suspicion that this pathway was responsible for regulating the flow of bile, researchers treated two groups of mice with an anti-miR-33 drug and tracked radioactively labeled cholesterol as it moved through and was eliminated by these animals.

"We hypothesized we should see changes in the amount of radioactivity in the cholesterol that was eliminated in the mice's feces, depending on whether they were given placebo or anti-miR-33," Baldn said. "That is in fact what we found. When the microRNA is silenced, the pathway is enhanced and more cholesterol is passed through."

Bile is produced by the liver to help the body digest dietary lipids. Bile is itself made up, in part, of cholesterol and cholesterol-derived bile acids, and it also serves a key function in controlling the body's balance of cholesterol.

When the body doesn't secrete and transport bile well, due to an obstruction like a gallstone, or, as examined in this study, because of a genetic variation or medication side effect, bile cannot flow from the liver to the small intestine. The resulting blockage causes cholestasis, a kind of liver damage.

In the final segment of the study, researchers took note of a genetic condition, called progressive familial intrahepatic cholestasis (PFIC), an inherited disease that causes cholestasis and can lead to liver failure. PFIC is caused by defects in the biliary transporters, such as ABCB11 and ATP8B1, the very genes that are regulated by miR-33. Interestingly, the same group of symptoms can occur in a less severe form, called benign recurrent intrahepatic cholestasis (BRIC) in some people with less severe genetic mutations.

"Intriguingly, a very small number of patients who take statins develop a syndrome identical to BRIC, a milder version of the same illness experienced by people who have the genetic disease PFIC," Baldn said. "In this case, though, statins caused the condition pharmacologically.

Read more:
Turning off key piece of genetic coding eliminates toxic effect of statins, study suggests

Recommendation and review posted by Bethany Smith

23andMe has named Andy Page to its board of directors. He currently serves as president of Gilt Group. Previously he served as chief operating and financial officer at PlayPhone; chief financial officer and senior vice president of business strategy at StubHub; and has held senior executive positions at Panasas, ONI Systems, and Robertson Stephens & Company.

Sera Prognostics has named Sherree Frazier to be VP of sales and marketing. Frazier will head the company's commercial activities, including development and launch of the ProNid diagnostic test to predict preterm birth risk. Frazier formerly was senior director of molecular diagnostics and head of North American clinical sales at Qiagen, and prior to that she was women's health manager at Adeza Biomedical, before it was acquired by Cytyc.

Douglas Kell has been reappointed as chief executive and deputy chair of the UK Biotechnology and Biological Sciences Research Council, the Minister for Universities and Science David Willetts said this week.

Kell has held the top post at BBSRC since 2008, and before that he was director of the Manchester Centre for Integrative Systems Biology. He also has served as director of research at the Institute of Biological Sciences at the University of Aberystwyth, and he was a founding director of Aber Instruments. His research has included a range of topics including systems biology, analytical chemistry, and biochemical and data modeling.

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Population Genetics, Autism Research Centre to Study Asperger Variants

Recommendation and review posted by Bethany Smith

ScienceDaily (July 9, 2012) The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. A Nationwide Children's Hospital study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies.

A group of untreatable muscle disorders known as dysferlinopathies are caused by mutations in the dysferlin gene. Patients with these disorders, including limb girdle muscular dystrophy type 2B, are typically diagnosed in their early twenties. Approximately one-third will become wheelchair dependent by their mid-30s.

Gene therapy using adeno-associated virus (AAV) to deliver genes to cells has been pursued as an option for some patients with muscular dystrophy. However, AAV's packaging limitations have served as obstacles in using gene therapy to deliver large genes like dysferlin. Scientists in the past have attempted to work around AAV's packaging limitations by inserting a small version of large genes into the viral vector to induce gene expression. Some have also used more than one viral vector at a time to deliver a large gene. However, micro and mini versions of large genes don't always have the power of full-length gene expression and an increased viral load can lead to negative side effects.

"We have had success in the clinic using AAV gene therapy with limb girdle muscular dystrophy type 2D, which is caused by mutations in the alpha-sarcoglycan gene," said Louise Rodino-Klapac, PhD, principal investigator in the Center for Gene Therapy at The Research Institute of Nationwide Children's Hospital. "However, the dysferlin gene is very large, about six times larger than the alpha-sarcoglycan gene and can't fit into a traditional AAV vector."

A 2008 study identified AAV5, an AAV serotype that could package large transcripts. "This made us wonder whether it could be used for gene replacement requiring inserts as large as the dysferlin gene," said Dr. Rodino-Klapac.

In their 2012 study appearing in PLoS ONE, Dr. Rodino-Klapac's team used AAV5 to package a full-length, intact dysferlin gene and directly deliver it to the diaphragm of dysferlin-deficient mice. They also injected the leg muscles of dysferlin-deficient mice using both intramuscular and vascular approaches to further evaluate whether the gene delivery could improve skeletal muscle function.

They found that both the intravascular and intramuscular delivery approaches led to full-length, intact dysferlin gene expression in the leg and diaphragm muscle cells of the mice. More importantly, they saw that the newly-restored dysferlin repaired membrane deficits previously seen in the dysferlin-deficient mice.

"Our findings demonstrate highly favorable results with full restoration of dysferlin without compromise in function," said Dr. Rodino-Klapac. "With regard to neuromuscular diseases, these studies provide new perspective for conditions caused by mutations of large genes. Duchenne muscular dystrophy is the most common severe childhood muscular dystrophy and would seem to benefit from expression of the larger transcripts than mini- and micro-dystrophins that only partially restore physiologic function in mouse models of the disease."

Dr. Rodino-Klapac and her team are currently defining a path for a dysferlin clinical gene therapy trial. "We have shown that AAV5-dysferlin delivery is a very promising therapeutic approach that could restore functional deficits in dysferlinopathy patients," she says.

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New gene transfer strategy shows promise for limb girdle and other muscular dystrophies

Recommendation and review posted by Bethany Smith

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/kxltqj/gene_therapy_marke) has announced the addition of the "Gene Therapy Market to 2018 - Product Development Slowed by Clinical Failures, Close Regulatory Surveillance and High Compliance Standards" report to their offering.

Gene Therapy: the Next Big Step in Cancer Treatments.

The fight against cancer is leading a new movement in gene therapy, as the failure of conventional cancer therapies is fuelling demand for new treatments, according to a new report by healthcare experts GBI Research.

The new report* states that gene therapy technology is still in its nascent stage, and high levels of regulatory surveillance in clinical development is affecting progress. However, the increasing potential of upcoming treatments and shortcomings in traditional therapies is gradually leading to broader acceptance of gene therapy in medicine.

Therapies such as chemotherapy and hormone therapy control the progression of diseases, but are often associated with severe side effects, such as nausea, hair loss and abnormal blood cell counts. Once administered, the drugs induce systemic action throughout the body, and patients often die due to the side effects of treatment rather than the cancer itself. The inability of these conventional therapies to cure diseases has created a significant unmet need in the treatment of cancer, as well as Human Immunodeficiency Virus (HIV), autoimmune diseases, and viral infections.

Targeted therapies such as monoclonal antibodies, stem cell therapies, Ribonucliec Acid (RNA) therapies and gene therapies have initially shown better efficacy and safety profiles compared to chemotherapies.

Gene therapy has several promising drug candidates, which are likely to drive the growth of the gene therapy market if clinical trials are successful. Collategene by AnGes MG, Cardium Therapeutics' Generx, and Vical Incorporation's Allovectin-7 are in development for a wide range of cancer indications, and are expected to compete in the oncology therapeutics market as the market acceptance of gene therapy improves over time.

Companies Mentioned

- ReGenX Biosciences

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Research and Markets: Gene Therapy Market to 2018 - Product Development Slowed by Clinical Failures, Close Regulatory ...

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IRVINE, Calif. and AMSTERDAM, July 9, 2012 /PRNewswire/ -- Agendia, an innovative molecular cancer diagnostics company and leader in personalized medicine, today announced a key addition to their executive team with the appointment of Glen Fredenberg as CFO and Vice President of Finance.

"It is a very exciting time with the recent launch of Agendia's Symphony suite of tests in an FFPE format as well as the ColoPrint recurrence test for stage II colon cancer prognosis and prediction," said Fredenberg. "As a cohesive executive team, we are poised to bring Agendia to the next level."

Fredenberg has more than twenty years of experience with financial management and corporate governance, primarily in the clinical laboratory industry. Previously, Fredenberg was the CFO at US Labs in Irvine, California, which grew from $1 million in revenue to more than $80 million in revenue and was then successfully sold to LabCorp in 2005. Most recently, he has been the CFO at Clarient in Aliso Viejo, California, which has grown to $140 million in revenue and was successfully sold to GE Healthcare in late 2010. Fredenberg holds a Bachelor of Science in Business Administration from California State University, Fullerton, and is a licensed Certified Public Accountant.

"The addition of Glen Fredenberg to our executive team will have a tremendous impact on Agendia and will accelerate our progress in the molecular diagnostics industry," said David Macdonald, CEO of Agendia. "Our team is focused on the commercialization of our current breast and colon cancer Symphony suite of tests as well as the development of our personalized medicine pipeline."

About Agendia:

Agendia is a leading molecular diagnostic company that develops and markets genomic-based diagnostic products, which help support physicians with their complex treatment decisions. Agendia's breast cancer Symphony suite was developed using unbiased gene selection, analyzing the complete human genome, ensuring 100% definitive results for cancer patients. Symphony includes MammaPrint, the first and only FDA-cleared IVDMIA breast cancer recurrence assay, as well as BluePrint, a molecular subtyping assay, TargetPrint, an ER/PR/HER2 expression assay, and TheraPrint, an alternative therapy selection assay. Together, these tests help physicians determine a patient's individual risk for metastasis, which patients will benefit from chemo, hormonal, or combination therapy, and which patients do not require these treatments and can instead be treated with other less arduous and less costly methods.

In addition to the Symphony suite of tests, Agendia has a rich pipeline of genomic products in development. The company collaborates with pharmaceutical companies, leading cancer centers and academic groups to develop companion diagnostic tests in the area of oncology and is a critical partner in the ISPY-2 and MINDACT trials.

For more information, please visit http://www.agendia.com.

For further information, please contact: Post+Beam Melissa Hurley Tel: +1 646 442 2773 E-mail: hurley@postandbeam.is

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BETHLEHEM, Pa., July 9, 2012 /PRNewswire/ -- Saladax Biomedical, Inc., a privately held company developing and commercializing novel diagnostic assays to achieve the promise of personalized medicine for new and existing therapeutics, announced today the company has achieved CE mark registration for its MyPaclitaxel and MyDocetaxel therapeutic dose management (TDM) MyCare assays, enabling commercialization in the European Union (EU).

Saladax's MyCare technology platform offers automated, rapid, robust and cost-effective in vitro diagnostic tests for patient-specific chemotherapy dose optimization. These new tests enable a physician to determine the optimal treatment effectiveness/toxicity balance for each unique patient.

"We are gratified to expand our offering of MyCare tests to cancer patients in the EU," said Kevin M. Harter, president and CEO of Saladax. "There is a significant need to provide patients personalized drug dosing to achieve optimal therapeutic benefits while at the same time maintaining a high quality of life. Our MyCare tests, which measure the concentration of paclitaxel or docetaxel in patients' blood, give oncologists the objective information they need to adjust their patients' dose to their individual needs. Adding MyPaclitaxel and MyDocetaxel to the already available My5-FU assay will allow us to help an even broader segment of patients."

Approximately 225,000 cancer patients in the EU are treated with the taxane drugs annually. Paclitaxel is predominantly used to treat ovarian, breast, non-small cell lung (NSCLC) and uterine cancers. Similarly, docetaxel is used to treat breast cancer and NSCLC, but is also an important component of prostate and head and neck cancer treatment regimens. Both of these drugs cause serious toxic side effects, with upwards of 80% to 90% of patients suffering fromlow white blood cell counts that leave patients susceptible to serious and even life-threatening infections.

Both paclitaxel and docetaxel are typically dosed based on a body surface area (BSA) calculation, which does not account for how individuals absorb and clear medications from their bloodstream. Research has demonstrated that patients' reactions to receiving similar BSA-based doses of paclitaxel and docetaxel can vary dramatically. For example, patients receiving the same initial amount of these chemotherapy drugs have been found to metabolize them at very different rates resulting in different levels in the bloodstream. When a patient metabolizes the drug too quickly, there is not enough drug in the bloodstream to kill the cancer cells. Conversely, when a patient metabolizes the drug too slowly, the drug blood level can be very high and cause toxicity. This can compromise treatment benefits to patients and cause premature termination of treatment. Saladax developed the MyPaclitaxel and MyDocetaxel assays to enable oncologists to measure their patients' blood drug levels and adjust the dose for those who are at high risk of serious side effects.

Saladax Biomedical develops novel diagnostic assays for the practical delivery of personalized medicine. Our proprietary line of MyCare assays improves the efficacy of existing drugs by optimizing the dose administered for each individual patient. Saladax's initial focus is oncology, with a portfolio of 13 chemotherapy drug assays in various stages of development. Three MyCare assays, My5-FU, MyPaclitaxel and MyDocetaxel, are currently offered to the oncology community in some markets.

The company's MyCre technology platform is broad and flexible, enabling wide application in many therapeutic categories. This technology capability also enables Saladax to serve as a valuable partner to pharmaceutical and biotechnology companies in the development of companion diagnostics (CDx), addressing multiple risks and challenges encountered in drug development.

The company was founded in 2004 and is headquartered in Bethlehem, Pennsylvania. Saladax is ISO 13485:2003 certified.

Saladax Biomedical, Inc. Adrienne Choma, Esq. Sr. VP & Chief Marketing Officer achoma@saladax.com

Media Contact: Tiberend Strategic Advisors, Inc. 212-827-0020 Andrew Mielach amielach@tiberend.com or Claire Sojda csojda@tiberend.com

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Saladax Biomedical, Inc. Extends Availability of its MyCare™ Portfolio in Europe

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Public release date: 6-Jul-2012 [ | E-mail | Share ]

Contact: Brianna Deane bdeane@dentistry.ucla.edu 310-206-0835 University of California - Los Angeles

The ability to control whether certain stem cells ultimately become bone cells holds great promise for regenerative medicine and potential therapies aimed at treating metabolic bone diseases.

Now, UCLA School of Dentistry professor and leading cancer scientist Dr. Cun-Yu Wang and his research team have made a significant breakthrough in that direction. The scientists have discovered two key epigenetic regulating genes that govern the cell-fate determination of human bone marrow stem cells.

Wang's new research is featured on the cover of the July 6 issue of Cell Stem Cell, the affiliated journal of the International Society for Stem Cell Research.

The groundbreaking study grew out of Wang's desire to better understand the epigenetic regulation of stem cell differentiation, in which the structure of genes is modified while the sequence of the DNA is not. He and his team found that KDM4B and KDM6B, two gene-activating enzymes, can promote stem cells' differentiation into bone cells by removing methyl markers from histone proteins. This process occurs through the activation of certain genes favoring a commitment to one lineage and the concurrent deactivation of genes favoring other lineages.

The findings imply that chemical manipulation of these gene-activating enzymes may allow stem cells to differentiate specifically into bone cells, while inhibiting their differentiation into fat cells. The group's research could pave the way toward identifying potential therapeutic targets for stem cellmediated regenerative medicine, as well as the treatment of bone disorders like osteoporosis, the most common type of metabolic bone disease.

"Through our recent discoveries on the lineage decisions of human bone marrow stem cells, we may be more effective in utilizing these stem cells for regenerative medicine for bone diseases such as osteoporosis, as well as for bone reconstruction," Wang said. "However, while we know certain genes must be turned on in order for the cells to become bone-forming cells, as opposed to fat cells, we have only a few clues as to how those genes are switched on."

The research group, through its study of aging mice, found that the two enzymes KDM4B and KDM6B could specifically activate genes that promote stem cell differentiation toward bone, while blocking the route toward fat.

"Interestingly, in our aged mice, as well as osteoporotic mice, we observed a higher amount of silencing histone methyl groups which were normally removed by the enzymes KDM4B and KDM6B in young and healthier mice," Wang said. "And since these enzymes can be easily modified chemically, they may become potential therapeutic targets in tissue regeneration and treatment for osteoporosis."

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UCLA researcher discovers epigenetic links in cell-fate decisions of adult stem cells

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

Advanced Cell Technology, Inc. (ACT; OTCBB: ACTC), a leader in the field of regenerative medicine, announced today that the Data and Safety Monitoring Board (DSMB), an independent group of medical experts closely monitoring the companys three ongoing clinical trials, has authorized the company to move forward with enrollment and treatment of additional patients in its clinical trial for dry age-related macular degeneration (dry AMD). ACT will proceed with patient screening and enrollment for the second cohort, who, in keeping with trial protocol, will be injected with 100,000 retinal pigment epithelial (RPE) cells derived from human embryonic stem cells (hESCs), as compared with the 50,000-cell dose used in the first cohort.

DSMB authorization to move to the higher dosage of cells in our clinical trial for dry AMD represents a significant milestone for our clinical programs, commented Gary Rabin, chairman and CEO of ACT. Our RPE program is now advancing rapidly, as we are now screening at multiple ophthalmological centers for the fourth surgery in both our dry AMD trial and our U.S. SMD trial, with our E.U. SMD trial, which was initiated much later, not far behind.

The trial is a prospective, open-label study, designed to determine the safety and tolerability of hESC-derived RPE cells following sub-retinal transplantation into patients with dry AMD at 12 months, the studys primary endpoint. The three procedures comprising the first cohort of patients were all conducted at University of California at Los Angeles (UCLA), by Steven Schwartz, M.D., Ahmanson Professor of Ophthalmology at the David Geffen School of Medicine at UCLA and retina division chief at UCLA's Jules Stein Eye Institute. It was announced in May that Mass Eye and Ear is an additional site for the trial.

Mr. Rabin added, Dry AMD represents one of the largest unmet ophthalmological needs in the world, with a potential market of $25 billion in the U.S. and Europe, alone, and this DSMB approval is a big step toward being able to potentially address that massive medical need.

ACT is conducting a total of three clinical trials in the U.S. and Europe using hESC-derived RPE cells to treat forms of macular degeneration. Each trial will enroll a total of 12 patients, with cohorts of three patients each in an ascending dosage format. Treatment of the final patient of the first cohort in the companys dry AMD trial was announced on April 20. On June 29, the second SMD patient enrolled in the Companys E.U. clinical trial was treated at Moorfields Eye Hospital in London, U.K., and on April 24 the company announced DSMB approval to treat the second patient cohort in its U.S. SMD trial.

Further information about patient eligibility for ACTs dry AMD study and the companys concurrent SMD studies in the U.S. and E.U. is available at http://www.clinicaltrials.gov, with the following Identifiers: NCT01344993 (dry AMD), NCT01345006 (U.S. SMD), and NCT01469832 (E.U. SMD).

About Advanced Cell Technology, Inc.

Advanced Cell Technology, Inc., is a biotechnology company applying cellular technology in the field of regenerative medicine. For more information, visit http://www.advancedcell.com.

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ScienceDaily (July 9, 2012) The ability to control whether certain stem cells ultimately become bone cells holds great promise for regenerative medicine and potential therapies aimed at treating metabolic bone diseases.

Now, UCLA School of Dentistry professor and leading cancer scientist Dr. Cun-Yu Wang and his research team have made a significant breakthrough in that direction. The scientists have discovered two key epigenetic regulating genes that govern the cell-fate determination of human bone marrow stem cells.

Wang's new research is featured on the cover of the July 6 issue of Cell Stem Cell, the affiliated journal of the International Society for Stem Cell Research.

The groundbreaking study grew out of Wang's desire to better understand the epigenetic regulation of stem cell differentiation, in which the structure of genes is modified while the sequence of the DNA is not. He and his team found that KDM4B and KDM6B, two gene-activating enzymes, can promote stem cells' differentiation into bone cells by removing methyl markers from histone proteins. This process occurs through the activation of certain genes favoring a commitment to one lineage and the concurrent deactivation of genes favoring other lineages.

The findings imply that chemical manipulation of these gene-activating enzymes may allow stem cells to differentiate specifically into bone cells, while inhibiting their differentiation into fat cells. The group's research could pave the way toward identifying potential therapeutic targets for stem cell-mediated regenerative medicine, as well as the treatment of bone disorders like osteoporosis, the most common type of metabolic bone disease.

"Through our recent discoveries on the lineage decisions of human bone marrow stem cells, we may be more effective in utilizing these stem cells for regenerative medicine for bone diseases such as osteoporosis, as well as for bone reconstruction," Wang said. "However, while we know certain genes must be turned on in order for the cells to become bone-forming cells, as opposed to fat cells, we have only a few clues as to how those genes are switched on."

The research group, through its study of aging mice, found that the two enzymes KDM4B and KDM6B could specifically activate genes that promote stem cell differentiation toward bone, while blocking the route toward fat.

"Interestingly, in our aged mice, as well as osteoporotic mice, we observed a higher amount of silencing histone methyl groups which were normally removed by the enzymes KDM4B and KDM6B in young and healthier mice," Wang said. "And since these enzymes can be easily modified chemically, they may become potential therapeutic targets in tissue regeneration and treatment for osteoporosis."

"The discovery that Dr. Wang and his team have made has considerable implications for craniofacial bone regeneration and treatment for osteoporosis," said Dr. No-Hee Park, dean of the UCLA School of Dentistry. "As a large portion of our population reaches an age where osteoporosis and gum disease could be major health problems, advancements in aging-related treatment are very valuable."

Professor Wang holds the No-Hee Park Endowed Chair in Dentistry at the UCLA School of Dentistry, where he is also chair of the division of oral biology and medicine and the associate dean for graduate studies.

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Discovery of epigenetic links in cell-fate decisions of adult stem cells paves way for new osteoporosis treatments

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ScienceDaily (July 8, 2012) Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections.

The DCTN4 gene codes for dynactin 4. This protein is a component of a molecular motor that moves trouble-making microbes along a cellular conveyer belt into miniscule chemical vats, called lysosomes, for annihilation.

This study, led by the University of Washington, is part of the National Heart Lung and Blood Institute GO Exome Sequencing Project and its Lung GO, both major National Institutes of Health chronic disease research efforts.

Similar "testing the extremes" strategies may have important applications in uncovering genetic factors behind other more common, traits, such as healthy and unhealthy hearts.

The results of the cystic fibrosis infection susceptibility study appear on July 8, in Nature Genetics. The infection in question was Pseudomonas aeruginosa, an opportunistic soil bacterium that commonly infects the lungs of people with cystic fibrosis and other airway-clogging disorders. The bacteria can unite into a slithery, hard-to-treat biofilm that hampers breathing and harms lung tissue. Chronic infections are linked to poor lung function and shorter lives among cystic fibrosis patients. These bacteria rarely attack people with normal lungs and well-functioning immune systems.

In the study, these rare variations in DCTN4 did not appear in any of the cystic fibrosis patients who were the most resistant to Pseudomonas infection. The study subjects most susceptible to early, chronic infection had at least one DCTN4 missense variant. A missense variant produces a protein that likely can't function properly.

The lead author of the report published July 8 in Nature Genetics is Dr. Mary J. Emond, research associate professor of biostatistics at the University of Washington School of Public Health in Seattle. The senior author is medical geneticist Dr. Michael Bamshad, UW professor of pediatrics in the Division of Genetic Medicine.

To the extent of their knowledge, the researchers think that this might be the first time that genetic variants underlying complex trait were discovered by sequencing all the protein-coding portions of the genomes of people at each extreme of a disease spectrum.

"We did not have a candidate gene in mind when we did this study," said Emond. Statistical analysis of the DNA of 91 patients led the research team to this particular gene. Of the initial study group, 43 children had their first onset of chronic lung infection with Pseudomonas as when they were very young, and the 48 oldest individuals had not yet reached a state of chronic infection. The patients selected for sequencing were from the Early Pseudomonas Infection Control (EPIC) Observational Study, a project at the Seattle Children's Research Institute, and the North American Cystic Fibrosis Genetic Modifiers Study. Exome sequencing was done by UW researchers in the laboratory of Deborah Nickerson, UW professor of genome sciences.

Comparisons of the protein coding portions of the study subjects' DNA called the researchers attention to missense variations of the DCTN4 gene. The researchers went on to screen a selected group of 1,322 other EPIC participants to check their findings.

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Exome sequencing of health condition extremes can reveal susceptibility genes

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FILE - In this Sept. 23, 2000 file photo, trainers examine Penn State cornerback Adam Taliaferro after he was injured in the fourth quarter of an NCAA college football game against Ohio State, in Columbus, Ohio. Taliaferro inspired the schools alumni after he recovered from a spinal cord injury on the football field so serious that doctors once feared he would never walk again. More than a decade later, it's Taliaferro now trying to help his alma mater through a challenging period as he assumes his new post as a trustee at the school rocked by the Jerry Sandusky child sex abuse scandal.

Chris Putman, File, Associated Press

STATE COLLEGE, Pa. Former Penn State defensive back Adam Taliaferro inspired fans and alumni after he recovered from a spinal cord injury on the football field so serious that doctors once feared he would never walk again.

More than a decade afterward, it's Taliaferro who is now trying to help his alma mater through a challenging period.

The football player-turned-lawyer is one of three new alumni-elected members of the university's Board of Trustees officially taking their seats when the board holds its next meeting Friday in Scranton. Taliaferro, financial services executive Anthony Lubrano and retired Navy SEAL Capt. Ryan McCombie assume the posts at a crucial time for Penn State: as the school awaits the findings of an internal investigation, led by former FBI Director Louis Freeh, into the Jerry Sandusky child sex abuse scandal.

Of the three trustees, Taliaferro is the most well-known by virtue of his motivational recovery from a severe neck injury after his helmet hit the knee of Ohio State tailback Jerry Westbrooks on Sept. 23, 2000, in Columbus. He has since written a book and started a foundation to help athletes recovering from similar injuries.

"It's not just something I'm doing to put it on my resume," Taliaferro, now a lawyer in suburban Philadelphia, said in a recent phone interview. In November, Taliaferro also won election as a Democratic member of the Board of Freeholders in Gloucester County, N.J.

"It's a great opportunity to help a place that's really given me a lot over my whole life," he said of Penn State.

Name recognition turned Taliaferro into an early favorite in the race for three alumni trustee seats up for election this past spring. Nine of the 32 seats on the board are filled by alumni; the rest are filled by various means, including appointment or by university or state officials.

Taliaferro came in first with more than 15,600 over 37,000-plus votes cast a record turnout sparked by criticism by many alumni over the board's actions in the frantic weeks following Sandusky's arrest in November.

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New trustees seek to help Penn State heal

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(PRWEB) July 08, 2012

"Trauma to Ankle joint can cause arthritis," according to A.J. Farshchian MD, a regenerative medicine practitioner at The Center for regenerative medicine.

The ankle joint is known as a diarthrodial joint. Of all the joints in the body it is probably the joint most resistant to a degenerative condition. This immunity to arthrosis is primarily associated to the joints liberal distribution of forces throughout a series of interlinked compartments. The ankle joint and accompanying foot joints support the body as would a tri-pod supporting a camera. The supporting surfaces of the ankle and foot have a tri-pod structure to its form. The ankle joint represents the lateral (or outside) support column of the tri-pod supporting form. The heel bone represents the posterior column of the support form. The mid-foot and the forefoot represent the anterior support column. This tri-pod support form is not static but dynamic in its function. As the stresses change and the strains converge on points along the weight-bearing surfaces of the ankle foot adjustments are made to maintain the center of gravity within the supporting tri-pod columns.

Rarely would age related degenerative changes be seen in the ankle and foot. When degenerative changes develop in the ankle or the other support columns it is normally preceded by a history of trauma. This trauma is usually a fracture in one of the supporting hard tissues. Serious ligamental injury can also affect a degenerative condition. Following a ligamental or fracture injuries an uncoupling of the local traumatic region occurs. This uncoupling reduces the normal cellular metabolic response to weight-bearing forces of the local traumatized area. The traumatized area is isolated from the nutritious effect of tolerable strains and exposed to harmful stresses. These harmful stresses initiate cellular destruction which later becomes a degenerative condition.

The Center for Regenerative Medicine in Miami, Florida concentrates on helping arthritic and injured people to get back to a functional level of life and their activities using non-surgical techniques and Orthopedic medicine. The center's expertise is in treatment of conditions of spine, knees, shoulders and other cartilage damages. They have developed non-surgical and rehabilitation techniques focused on treatment and management of joint pain. Their team includes health professionals organized around a central theme. Their website is http://www.arthritisusa.net.

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Trauma to Ankle joint can cause arthritis

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ISTANBUL, Turkey, July 7 (UPI) -- Cigarette smoke reduces the production of a Fallopian tube gene, which helps explain the link between smoking and ectopic pregnancy, Scottish researchers say.

Drs. Andrew Horne and Colin Duncan of the Medical Research Council Centre for Reproductive Health in Edinburgh, Scotland, said ectopic pregnancy -- when the embryo implants in the Fallopian tube -- is the most common cause of maternal death in early pregnancy.

Ectopic pregnancy occurs in up to 2 percent of all pregnancies.There is no way to prevent the condition, which must be treated by abdominal surgery or, if the ectopic is small and stable, by injection of a drug called methotrexate.

Horne and colleagues exposed cells from the Fallopian tube to a breakdown product of nicotine -- cotinine. They then showed that cotinine had a negative effect on genes known to be associated with cell death, or apoptosis, and in particular with a particular gene.

In a further study the researchers showed that the gene's reduced production in the Fallopian tube of women who were smokers.

"The research is exciting because it provides new scientific evidence to help understand why women who smoke are more likely to have ectopic pregnancies," Horne said. "It appears that smoking reduces the production of genes, which are involved in the control of cell death and promote an environment in the Fallopian tube which is attractive to the developing embryo."

The findings were presented at the European Society of Human Reproduction and Embryology in Istanbul, Turkey.

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Smoking linked to ectopic pregnancy

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The Republican primary race in Kansas House District 91 features the incumbent from the previous District 105, Gene Suellentrop, and small business owner Robin Clements.

Clements says her business, Public Solutions, consults with small businesses on public policy.

Suellentrop, also a business owner, was chosen by the Sedgwick County Republican Party in late 2009 to fill a vacant seat in the Legislature. He won re-election in 2010.

Both candidates live in northwest Wichita.

The district covers parts of north and west Wichita as well as Park City. It includes about 25 percent of the residents of the old District 105, about 20 percent of the old District 91, 21 percent of the old District 90, 27 percent of the old District 89 and 7 percent of the old District 85.

The winner in the Aug. 7 primary election will face Democrat Katelyn Delvaux in November.

Turn to Page 3B for information on the candidates and their stances on tax cuts, education and more.

Robin Clements

Age: 61

Occupation: CEO of Public Solutions LLC

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Gene Suellentrop and Robin Clements are GOP candidates in House District 91

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Public release date: 6-Jul-2012 [ | E-mail | Share ]

Contact: Phyllis Edelman pedelman@genetics-gsa.org 301-634-7302 Genetics Society of America

BETHESDA, MD July 6, 2012 Yona Goldshmit, Ph.D., is a former physical therapist who worked in rehabilitation centers with spinal cord injury patients for many years before deciding to switch her focus to the underlying science.

"After a few years in the clinic, I realized that we don't really know what's going on," she said.

Now a scientist working with Peter Currie, Ph.D., at Monash University in Australia, Dr. Goldshmit is studying the mechanisms of spinal cord repair in zebrafish, which, unlike humans and other mammals, can regenerate their spinal cord following injury. On June 23 at the 2012 International Zebrafish Development and Genetics Conference in Madison, Wisconsin, she described a protein that may be a key difference between regeneration in fish and mammals.

One of the major barriers to spinal regeneration in mammals is a natural protective mechanism, which incongruously results in an unfortunate side effect. After a spinal injury, nervous system cells called glia are activated and flood the area to seal the wound to protect the brain and spinal cord. In doing so, however, the glia create scar tissue that acts as a physical and chemical barrier, which prevents new nerves from growing through the injury site.

One striking difference between the glial cells in mammals and fish is the resulting shape: mammalian glia take on highly branched, star-like arrangements that appear to intertwine into dense tissue. Fish glia cells, by contrast, adopt a simple elongated shape called bipolar morphology that bridges the injury site and appears to help new nerve cells grow through the damaged area to heal the spinal cord.

"Zebrafish don't have so much inflammation and the injury is not so severe as in mammals, so we can actually see the pro-regenerative effects that can happen," Dr. Goldshmit explained.

Studies in mice have found that mammalian glia can take up the same elongated shape, but in response to the environment around the injury they instead mature into scar tissue that does not allow nerve regrowth.

Dr. Goldshmit and her colleagues have focused on a family of molecules called fibroblast growth factors (Fgf), which have shown some evidence of improving recovery in mice and humans with spinal cord damage. The Monash University group found that Fgf activity around the damage site promotes the bipolar glial shape and encourages nerve regeneration in zebrafish.

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Zebrafish reveal promising mechanism for healing spinal cord injury

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MANILA, Philippines Stem cell therapy, aside from being a potential cure for a wide range of illnesses, can also make a patient look and feel younger, a stem cell therapist said.

Dr. Ricardo Quiones, a cosmetic surgeon and dermatologist, has trained to conduct stem cell therapy, which he describes as the future of medicine.

Quiones said stem cell therapy has become popular for its ability to regenerate and heal properties of adult stem cells.

As we grow old, our stem cells dramatically decline. When we were children, we had 80 million stem cells. As we reach the age of 40, our stem cells decline to 35 million, he told Mornings@ANC on Friday.

Quiones explained that the procedure is similar to turning back the clock because it can increase a persons stem cells to 100 million.

Ive done two patients from Zamboanga City. I called them up after the procedure and they told me they look younger. They have the stamina, the vigor and they have felt an increase in short-term memory, powers of attention and concentration, he said.

Quiones also said the procedure has the potential to cure diabetes, heart damage, brain damage such as Parkinsons and Alzheimers, osteoarthritis, stroke, baldness and even sports injuries.

3-hour procedure

Quiones said any patient, except those diagnosed with cancer, can undergo the procedure, which he said will only last for about 3 to 4 hours.

After receiving clearance from a physician and passing medical and laboratory tests, anesthesia will be administered to a patient before stem cells are harvested.

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