Archive for the ‘Gene Therapy Research’ Category

Public release date: 11-Jul-2012 [ | E-mail | Share ]

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

BETHESDA, MD July 11, 2012 -- Important insights that explain why our ability to ward off infection declines with age are published in a new research report in the July 2012 issue of the Genetics Society of America's journal, GENETICS (http://www.genetics.org/). A team of U.S. scientists identified genes responsible for this decline by examining fruit flies a model organism often used to study human biology in an experimentally tractable system at different stages of their lives. They found that a completely different set of genes is responsible for warding off infection at middle age than during youth. Many of the genes identified are also present in humans, so this study opens doors to understanding genetic interactions that underlie why older people have more trouble fighting off infections than do younger people.

"We believe we have identified genes that contribute to the age-related deterioration of the immune response to infection," said Jeff Leips, Ph.D., a researcher involved in the work from the Department of Biological Sciences at the University of Maryland, Baltimore County. "Because many of the genes that we have identified also occur in humans, we hope that such knowledge will lead to new treatments to maintain immune function as we age."

To make this discovery, Leips used fruit flies of different genotypes that were derived from a natural population. Flies of each genotype were infected with bacteria at two different ages when they were young, at an age equivalent to human teenagers, and when they were older, in what might be the equivalent to early middle age in humans. The researchers then measured the ability of the flies to clear the bacterial infection at each age while simultaneously assessing how the expression of genes responded to infection. Genes whose variation in expression were associated with the ability to clear the infection were identified for each of the different ages at the time of infection. Surprisingly, the genes were different -- there was no overlap in the sets of genes associated with the ability to clear infection across ages.

"The notion that the genes responsible for immune function are almost entirely different in middle age than in early adulthood is tantalizing," said Mark Johnston, editor-in-chief of the journal GENETICS. "As the average age of the U.S. population increases, understanding how to maintain strong, healthy immune systems could help many of us live longer, healthier lives."

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CITATION: T. M. Felix, K. A. Hughes, E. A. Stone, J. M. Drnevich, and J. Leips. Age-specific variation in immune response in Drosophila melanogaster has a genetic basis Genetics July 2012 Volume 191, Issue 3.

ABOUT GENETICS: Since 1916, GENETICS (http://www.genetics.org/) has covered high quality, original research on a range of topics bearing on inheritance, including population and evolutionary genetics, complex traits, developmental and behavioral genetics, cellular genetics, gene expression, genome integrity and transmission, and genome and systems biology. GENETICS, a peer-reviewed, peer-edited journal of the Genetics Society of America, is one of the world's most cited journals in genetics and heredity.

ABOUT GSA: Founded in 1931, the Genetics Society of America (GSA) is the professional membership organization for scientific researchers, educators, bioengineers, bioinformaticians and others interested in the field of genetics. Its nearly 5,000 members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level. The GSA is dedicated to promoting research in genetics and to facilitating communication among geneticists worldwide through its conferences, including the biennial conference on Model Organisms to Human Biology, an interdisciplinary meeting on current and cutting edge topics in genetics research, as well as annual and biennial meetings that focus on the genetics of particular organisms, including C. elegans, Drosophila, fungi, mice, yeast, and zebrafish. GSA publishes GENETICS, a leading journal in the field and an online, open-access journal, G3: Genes|Genomes|Genetics. For more information about GSA, please visit http://www.genetics-gsa.org. Also follow GSA on Facebook at facebook.com/GeneticsGSA and on Twitter @GeneticsGSA.

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Decline of immune system with aging may have a genetic cause

NewLink Genetics in Ames held a ribbon cutting to mark the firms newly expanded facilities Wednesday.

The company, which was founded over 10 years ago by Dr. Charles Link, works to develop drugs to help fight cancer.

NewLink Genetics is based on the idea that someday, instead of using traditional chemotherapy to fight cancer, you can actually stimulate the immune system to fight off cancer, said Link.

The firm employs over 80 people in two buildings at the Iowa State University Research Park. The company has doubled it space at the Research Park from 25,000 square feet to 50,000.

Governor Terry Branstad attended the ribbon cutting and lauded NewLink Genetics for its effort to develop jobs.

With NewLink Genetics on the cutting edge of this emerging cancer vaccine market, we think this can have a life-saving impact on millions of people throughout the world, said Branstad.

Economic Partnership Director Debi Durham, and Ames Mayor Ann Campbell both shared personal stories of how cancer had touched their lives, during the ceremony.

The company is conducting some clinical trials of its products. If those tests are successful, the firm could be hiring a number of new employees.

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RIBBON CUTTING: Ames Company Expands

Public release date: 11-Jul-2012 [ | E-mail | Share ]

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

Bethesda, MDJuly 11, 2012 Listed below are the selected highlights for the July 2012 issue of the Genetics Society of America's journal, Genetics. The July issue is available online at http://www.genetics.org/content/current. Please credit Genetics, Vol. 191, JULY 2012, Copyright 2012.

ISSUE HIGHLIGHTS

Increasing association mapping power and resolution in mouse genetic studies through the use of meta-analysis for structured populations, pp. 959-967 Nicholas A. Furlotte, Eun Yong Kang, Atila Van Nas, Charles R. Farber, Aldons J. Lusis, and Eleazar Eskin

Because mouse models have a long history in the study of human disease, many studies describe the association of mouse genetic variation and disease traits. Their power can be increased by combining the results through the statistical procedure of meta-analysis, but the differing ancestry of the mouse panels used in each study can pose complications. These authors introduce a technique to combine studies, while accounting for differing ancestry, and they show how their method increases the potential to discover genomic regions underlying disease traits.

Multiple barriers to nonhomologous DNA end joining during meiosis in Drosophila, pp. 739-746 Eric F. Joyce, Anshu Paul, Katherine E. Chen, Nikhila Tanneti, and Kim S. McKim

Nonhomologous end joining (NHEJ) is to be suppressed in meiosis. This article provides insight into how Drosophila does that. Two groups of proteins that promote homologous recombinationMCM-like protein MEI-218 and Rad51-related proteins RAD51C and XRCC3suppress NHEJ during meiotic prophase. The authors suggest that those proteins regulate early events in the double-strand break repair response, such as resection, which influences the particular pathway of repair.

Properties and power of the Drosophila Synthetic Population Resource for the routine dissection of complex traits, pp. 935-949 Elizabeth G. King, Stuart J. Macdonald, and Anthony D. Long

This article describes a resource that promises to bring us closer to the ultimate goal of modern genetics: an understanding of how genetic variation translates into phenotype. The authors provide essential information about the Drosophila Synthetic Population Resource, a community resource for genetic dissection of complex traits. They describe its mapping power and resolution, and present the inference of complete genotype information from a dense set of markers, assessing how sequence coverage and marker density influence this inference.

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Genetics Society of America's Genetics journal highlights for July 2012

Newswise Bethesda, MDJuly 11, 2012 Listed below are the selected highlights for the July 2012 issue of the Genetics Society of Americas journal, GENETICS. The July issue is available online at http://www.genetics.org/content/current. Please credit GENETICS, Vol. 191, JULY 2012, Copyright 2012.

Please feel free to forward to colleagues who may be interested in these articles.

ISSUE HIGHLIGHTS Increasing association mapping power and resolution in mouse genetic studies through the use of meta-analysis for structured populations, pp. 959967 Nicholas A. Furlotte, Eun Yong Kang, Atila Van Nas, Charles R. Farber, Aldons J. Lusis, and Eleazar Eskin Because mouse models have a long history in the study of human disease, many studies describe the association of mouse genetic variation and disease traits. Their power can be increased by combining the results through the statistical procedure of meta-analysis, but the differing ancestry of the mouse panels used in each study can pose complications. These authors introduce a technique to combine studies, while accounting for differing ancestry, and they show how their method increases the potential to discover genomic regions underlying disease traits.

Multiple barriers to nonhomologous DNA end joining during meiosis in Drosophila, pp. 739746 Eric F. Joyce, Anshu Paul, Katherine E. Chen, Nikhila Tanneti, and Kim S. McKim Nonhomologous end joining (NHEJ) is to be suppressed in meiosis. This article provides insight into how Drosophila does that. Two groups of proteins that promote homologous recombinationMCM-like protein MEI-218 and Rad51-related proteins RAD51C and XRCC3suppress NHEJ during meiotic prophase. The authors suggest that those proteins regulate early events in the double-strand break repair response, such as resection, which influences the particular pathway of repair.

Properties and power of the Drosophila Synthetic Population Resource for the routine dissection of complex traits, pp. 935949 Elizabeth G. King, Stuart J. Macdonald, and Anthony D. Long This article describes a resource that promises to bring us closer to the ultimate goal of modern genetics: an understanding of how genetic variation translates into phenotype. The authors provide essential information about the Drosophila Synthetic Population Resource, a community resource for genetic dissection of complex traits. They describe its mapping power and resolution, and present the inference of complete genotype information from a dense set of markers, assessing how sequence coverage and marker density influence this inference.

A hyperactive transposase of the maize transposable element Activator (Ac), pp. 747756 Katina Lazarow, My-Linh Du, Ruth Weimer, and Reinhard Kunze Transposons (jumping genes) are widely used to generate new mutations, but the typically low frequency of transposition makes the search for insertion mutants tedious. These investigators describe a hyperactive Ac transposase that should facilitate insertion mutagenesis in plants and other organisms.

Establishment of new mutations in changing environments, pp. 895906 Stephan Peischl and Mark Kirkpatrick This study helps us understand when populations can adapt quickly enough to avoid extinction. Most new beneficial mutations are lost by chance while they are still rare. The authors examine several biologically important situationswhen the environment changes in consistent, periodic, and random ways, and when population size changesto find the probability that new mutations escape extinction and become permanently established.

Remarkably simple sequence requirement of the M-factor pheromone of Schizosaccharomyces pombe, pp. 815825 Taisuke Seike, Yoshikazu Yamagishi, Hideo Iio, Taro Nakamura, and Chikashi Shimoda How long is a ligand? Not very, in the case described by these authors. They create a complete set of 152 missense mutations affecting a nonapeptide mating pheromone of fission yeast and find that only four carboxyl-terminal amino acid residues are necessary for it to stimulate its G-protein-coupled receptor. Improved models for transcription factor binding site identification using nonindependent interactions, pp. 781790 Yue Zhao, Shuxiang Ruan, Manishi Pandey, and Gary D. Stormo Methods predicting transcription factor binding sites usually assume that each position makes an independent contribution to binding. Here, the authors tell us this assumption is reasonably strong for most transcription factors, but in some cases it is quite weak. They introduce an extended binding energy model that includes contributions of adjacent base pairs and predicts binding sites more accurately than previous methods. This model facilitates studies of gene regulatory networks in cells.

This Months Perspectives Notch and the awesome power of genetics, pp. 655669 Iva Greenwald This Perspectives article, which focuses on Notch, a receptor that plays major and varied roles in animal development, is a paean to the remarkable synergy between genetics and molecular biology, and a coming-of-age story about how model organisms came to occupy a prominent place in modern biology research. The author provides a historical account of the discovery of this important protein and describes the major advances, from identifying the first Drosophila mutant almost a century ago through elucidating its unusual mechanism of signal transduction.

ABOUT GENETICS: Since 1916, GENETICS (http://www.genetics.org/) has covered high quality, original research on a range of topics bearing on inheritance, including population and evolutionary genetics, complex traits, developmental and behavioral genetics, cellular genetics, gene expression, genome integrity and transmission, and genome and systems biology. GENETICS, a peer-reviewed, peer-edited journal of the Genetics Society of America is one of the world's most cited journals in genetics and heredity.

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Genetics Society of America's GENETICS Highlights for July 2012

REYKJAVIK, Iceland--(BUSINESS WIRE)--

deCODE Genetics, a global leader in analyzing and understanding the human genome, together with their colleagues from the pharmaceutical company Genentech, reported today in the journal Nature the discovery of a variant of the amyloid precursor protein (APP) gene that confers protection against both Alzheimers disease (AD) and cognitive decline in the elderly. The findings also indicate a linkage between age-related cognitive decline and late-onset forms of AD, the most common cause of dementia.

Our results suggest that late-onset Alzheimers disease may represent the extreme of more general age-related decline in cognitive function, said study lead author Kari Stefansson, M.D., Dr. Med., CEO of deCODE Genetics. Also important, these data support certain Alzheimers disease drug development programssome of which are already in human clinical trials.

Alzheimers disease is a progressive neurodegenerative disease associated with the production and accumulation of beta-amyloid peptides produced by cleaving bits off the APP. While several mutant forms of the APP gene have been linked to early-onset, aggressive forms of AD, there is limited evidence supporting a role for mutations in the gene in the more common late-onset form of the disease.

In searching for low-frequency variants of the APP gene associated with AD, deCODE scientists found a significant association with a mutation in whole genome sequence data from 1,795 Icelanders. The research team showed that the mutation is significantly more common in the studys elderly control group than in those with AD, suggesting that the mutation confers protection against the disease.

The Genentech team then tested these findings using in vitro cellular assays with wild-type APP and APP enriched with A673T, the mutation allele. Importantly, they showed a significantly reduced production of amyloid beta in cells with A673T.

Our genetic data indicate that the mutation is protective against Alzheimers disease, said Stefansson. Our findings and the in vitro work done by Genentech also provide a proof of principle for the idea that blocking BACE1 cleavage of APP may protect against Alzheimers, offering greater confidence to pharmaceutical companies with active BACE1 inhibitor drug development programs.

Cognitive Decline in the Elderly

To study the association of the protective mutation with general cognitive decline, the research team examined the frequency of the mutation in the original Icelandic control group of those cognitively intact at age 85. The team found an enrichment of the mutation in this group, consistent with its protective effect against AD.

Extending this work further, the team investigated cognitive function using a seven-category test in carriers of the mutation and non-carriers in the age range of 80 to 100 years old. The research team found a statistically significant difference between carriers and non-carriers, with the carriers of the mutation having a score indicative of better-conserved cognition. After removing known AD cases, the team again found that carriers had better cognitive function, suggesting that the mutation extends its protective effect to the elderly in general.

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deCODE Genetics Discovers Mutation Conferring Protection Against Alzheimer’s Disease and Cognitive Decline in Elderly

Public release date: 10-Jul-2012 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, July 9, 2012Genetic tests exist to identify risk for the rare inherited form of early-onset Alzheimer's disease (AD) and to predict susceptibility to the more common, late-onset form of AD, but do people want to know, and how do they react? The answers can be found in the article published in Genetic Testing and Molecular Biomarkers, a peer-reviewed journal from Mary Ann Liebert, Inc. The article is available free on the Genetic Testing and Molecular Biomarkers website.

"This article addresses a major disease of tremendous impact on increasing numbers of people and documents the large psychological component that physicians and genetic counselors must be ready to address." says Kenneth I. Berns, MD, PhD, Editor-in-Chief of Genetic Testing and Molecular Biomarkers, and Director of the University of Florida's Genetics Institute, College of Medicine, Gainesville, FL.

In the article "To Know or Not to Know: An Update of the Literature on the Psychological and Behavioral Impact of Genetic Testing for Alzheimer Disease Risk," B. Rahman and a team of researchers from Australia review the latest studies on whether people at risk for early-onset familial AD want to know their genetic profile and actually undertake testing, and how they tend to respond to the results. They also evaluate the attitudes of the general population and people with a family history of late-onset AD toward testing for disease risk factors and what motivates them to undergo genetic testing.

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About the Journal

Genetic Testing and Molecular Biomarkers is an authoritative peer-reviewed journal published 10 times per year in print and online that reports on all aspects of genetic testing, including molecular and biochemical based tests and varied clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. Tables of contents and a free sample issue may be viewed on the Genetic Testing and Molecular Biomarkers website.

About the Publisher

Mary Ann Liebert, Inc. is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Human Gene Therapy and OMICS. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 70 journals, books, and newsmagazines is available at Mary Ann Liebert, Inc..

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Do people want to know if they are at risk for Alzheimer's disease?

Public release date: 10-Jul-2012 [ | E-mail | Share ]

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

New Rochelle, NY, July 10, 2012Improving access to health care for minority women of childbearing age could improve pregnancy outcomes and reduce racial differences in infant mortality, according to an article 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.

Infant mortality rates for non-Hispanic blacks and other minorities are much higher than for non-Hispanic whites. Better preconception heath care for women is a promising strategy for reducing racial disparities in reproductive health outcomes. This may include reducing behavioral risk factors such as smoking, obesity, and excessive drinking. It could also involve greater access to preventive care and preconception and reproductive counseling.

The article "Racial and Ethnic Disparities in Preconception Risk Factors and Preconception Care" by Clark Denny, PhD and colleagues, Centers for Disease Control and Prevention (Atlanta, GA), estimated the prevalence of five risk factors for negative pregnancy outcomes in more than 54,600 women ages 18-44 years. They found that more than half of the women had at least one risk factor and nearly 20% of women had two or more risk factors.

An accompanying Editorial, "Forthcoming Changes in Healthcare Financing and Delivery Offer Opportunities for Reducing Racial Disparities in Risks to Reproductive Health" by Anne Dunlop, MD, MPH and Darcie Everett, MD, MPH, Emory University School of Medicine (Atlanta, GA), highlights changes in health care policy, financing, and delivery that will expand coverage, emphasize prevention, and improve access to preconception and reproductive health care for lower-income Americans.

"Clearly, there is a need for better preconception health care, particularly among high-risk groups, in order to improve pregnancy outcomes and reduce racial disparities," says Editor-In-Chief 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.

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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. 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.

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New CDC study on racial disparities in infant mortality published in Journal of Women's Health

Public release date: 10-Jul-2012 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, June 3, 2012 Remote presence robots are used in intensive care units (ICUs) to help critical care physicians supplement on-site patient visits and maintain more frequent patient interactions. Physicians who employ this technology to supplement day-to-day patient care strongly support the positive clinical and social impact of using robots, according to a report published in Telemedicine and e-Health, a peer-reviewed journal from Mary Ann Liebert, Inc. The article is available free on the Telemedicine and e-Health website.

"The integration of robotics in healthcare adds value to patient care and management of an individual's health," says Charles R. Doarn, MBA, Editor-in-Chief of the Journal and Research Professor of Family and Community Medicine, University of Cincinnati, Ohio.

The survey article entitled "Utilization of Robotic 'Remote Presence' Technology within North American Intensive Care Units" was conducted by investigators at InTouch Health (Santa Barbara, CA) and the Adams Cowley Shock Trauma Center, University of Maryland School of Medicine (Baltimore), found that most of the physicians utilizing robotic remote presence in the ICU were more senior staff who specialized in critical care medicine. The authors report that all survey respondents intend to continue using the technology and believe that it improves patient care and patient and family satisfaction.

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About the Journal

Telemedicine and e-Health is an official journal of the American Telemedicine Association, the Canadian Telehealth Forum of COACH, and the International Society for Telemedicine and eHealth. Edited by Ronald C. Merrell, M.D., Professor of Surgery, Virginia Commonwealth University, Richmond, and Charles Doarn, MBA. Telemedicine and e-Health is the leading international, peer-reviewed journal combining medicine, telecommunications, and information technology. Published 10 times a year in print and online, the Journal covers telemedicine applications that are playing an increasingly important role in health care and provides tools that are indispensable for home health care, remote patient monitoring, and disease management. It encompasses not only rural health and battlefield care, but nursing homes, assisted living facilities, and maritime and aviation applications. A sample table of contents and free issue may be viewed on the Telemedicine and e-Health website.

About the Publisher

Mary Ann Liebert, Inc. is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Population Health Management and Journal of Laparoendoscopic Surgery and Advanced Surgical Techniques. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 70 journals, books, and newsmagazines is available online at the Mary Ann Liebert, Inc. website.

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Can robots improve patient care in the ICU?

Public release date: 10-Jul-2012 [ | E-mail | Share ]

Contact: John Sterling jsterling@genengnews.com 914-740-2196 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, July 9, 2012More than half (52%) of the companies comprising the tissue engineering (TE) and stem cell industries are revenue-generating, compared to about 21% four years ago, reports Genetic Engineering & Biotechnology News (GEN). Of those companies, 31% have commercial products and 21% are service-based; another 30% have products in clinical trials, according to the current issue of GEN.

The GEN article is based on interviews with leading tissue engineering researchers and on the findings of a landmark paper ("Progress in the Tissue Engineering and Stem Cell Industry, Are we there yet"), which appears in Tissue Engineering: Part B, Volume 18, Number 3, 2012, published by Mary Ann Liebert, Inc.

"Like many other biotechnologies, tissue engineering has experienced an up and down history," said John Sterling, Editor in Chief of GEN. "But with numerous technical advances moving the field forward combined now with rising revenues, this segment of bioresearch is really taking off."

The industry itself is beginning to attain profitability, with sales revenues reaching $3.5 billion and industry spending approaching $3.6 billion. The 2012 analysis by a group led by Robert Langer, Sc.D., one of the authors of the paper in the Liebert journal, reported a nearly threefold increase in commercial sales for TE and stem cell products and services compared to the previous four-year period. Furthermore, the number of companies selling products or offering services increased more than twofold to 106.

The GEN article also notes that Tissue Engineering has formed an industry council for the purpose of helping to guide the evolution of the industry and to create strategic initiatives aimed at overcoming some of the R&D, manufacturing, and regulatory challenges facing the industry.

Among the companies interviewed for the GEN article are Organogenesis, Cytograft Tissue Engineering, Scintellix, and Humacyte.

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For a copy of the July issue of GEN, please call (914) 740-2146, or email: pbartell@genengnews.com

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GEN reports on growth of tissue engineering revenues

Consumers armed with genetic testing information from the likes of 23andMe and a whole host of gene testing companies are showing up at the emergency room or their primary care physicians offices looking for answers.

The problem is that those physicians dont know enough about the emerging field of personalized medicine, said Dr. Jennifer Lowry, a pediatrician at Childrens Mercy Hospital, Kansas City, Missouri. Lowry, who works at the hospitals Center for Personalized Medicine and Therapeutic Innovation, was speaking at MedCity CONVERGE Tuesday in Philadelphia.

Personalized medicine may be routine at Mayo Clinic but when parents show up with their childs genetic test results in the doctors office, many physicians are asking what this all means, Lowry said. They are like Whaaaat?

Later in an interview, Lowry said that personalized medicine was not even taught when she was in medical school and she had to learn it by herself.

She and others on the panel which included James Burn, president and CEO of genetic testing firm AssureRx, and Mike Scott, patient advocate, chairman of National Organization for Rare Disorders agreed that physician education was essential.

Burns said that AssureRx is exploring ways to educate patients simultaneously with those in the medical profession.

However, Lowry later said that she does not believe that companies developing the tests should be the entities managing this communication.Lowry said that the education will have to come from physicians who are unconnected to organizations that do the testing. She added that the Center for Personalized Medicine and Therapeutic Innovation holds conferences to educate the primary care physician or the ER physician, but many times people who show up are mainly researchers.

There is a good reason for why Lowry doesnt want the education to come from the companies doing the testing. She doesnt think these tests are that accurate.

Mayo is the best that we have, but I sometimes override even their interpretation of the test results, Lowry declared.

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Physicians need more education on personalized medicine

For Immediate Release

Chicago, IL July 10, 2012 Zacks.com announces the list of stocks featured in the Analyst Blog. Every day the Zacks Equity Research analysts discuss the latest news and events impacting stocks and the financial markets. Stocks recently featured in the blog include Qiagen (QGEN), Bristol-Myers Squibb Co. (BMY), Eli Lilly & Co. (LLY), Quest Diagnostics (DGX) and Myriad Genetics (MYGN).

Get the most recent insight from Zacks Equity Research with the free Profit from the Pros newsletter: http://at.zacks.com/?id=5513

Here are highlights from Mondays Analyst Blog:

FDA Approves Qiagens KRAS Test

Molecular diagnostics solutions provider, Qiagen (QGEN) recently got the nod of the U.S. Food and Drug Administration (FDA) to market the therascreen KRAS RGQ PCR Kit (therascreen KRAS test), which helps in determining the responsiveness of the metastatic colorectal cancer patients to the drug Erbitux (cetuximab). Qiagen considers this FDA approval of the therascreen KRAS test as a major breakthrough in the companys international expansion of its Personalized Healthcare franchise that comprises a huge portfolio of molecular companion diagnostics to guide treatments in oncology.

The drug Erbitux is an epidermal growth factor receptor (:EGFR) inhibitor and is used to treat colon and rectum cancer. It is also beneficial for head and neck cancer treatment. Currently, this drug is marketed in the U.S. by Bristol-Myers Squibb Co. (BMY) and Eli Lilly & Co. (LLY).

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The Zacks Analyst Blog Highlights: Qiagen, Bristol-Myers Squibb, Eli Lilly, Quest Diagnostics and Myriad Genetics

MOUNTAIN VIEW, Calif., July 10, 2012 /PRNewswire/ --23andMe, a leading personal genetics company, today announced its first acquisition with the purchase of CureTogether, Inc.The addition of CureTogether provides technology and talent that will improve 23andMe's ability to gather data for research while also providing customers with engaging and meaningful interactions in 23andMe's online community. Specific terms of the transaction were not disclosed.

"A driving force for the acquisition is the alignment of core values we share with CureTogether," 23andMe CEO and Co-Founder Anne Wojcicki. "It underscores 23andMe's commitment to helping individuals understand their own genetic information through proven DNA analysis technologies and web-based interactive tools; and generating patient-driven, informed-consent research as well as empowering our customers to use their personal genetic information to find connections and establish communities based on their DNA."

23andMe's Personal Genome Service enables individuals to explore their own DNA and currently provides more than 200 health and traits reports as well as genetic ancestry information. 23andMe's customer communities currently cover a wide range of topics from Relative Finder matches provided through the company's ancestry analysis, to disease-specific research communities such as Parkinson's Disease, Sarcoma, Myleoproliferative Neoplasms and the Roots Into The Future research community for African-Americans.

CureTogether brings to 23andMe additional tools and systems for gathering data from health-based communities that are complementary to the existing 23andMe platforms, allowing customers to share quantitative information on more than 500 medical conditions, talk about sensitive symptoms and compare which treatments work best for them as they track their health. CureTogether's platform includes more than 4 million phenotypic data points across those different health conditions that could help inform future genetic discoveries. "There are tremendous opportunities for our members and for future research by integrating the 23andMe and the CureTogether platforms and phenotypic data," explained CureTogether Co-Founder Daniel Reda, who joins 23andMe as senior product manager.

CureTogether was launched in 2008 initially to help people who live in daily chronic pain. Starting with three conditions, it quickly expanded as people wrote in to request that their conditions be added to their ongoing study. CureTogether, like 23andMe, is supported by social web-based platforms and is committed to patient-driven research, having partnered with researchers at leading universities and research institutions including Carnegie Mellon University, Cornell University, Drexel University, MIT Media Laboratory and Stanford University.

"We encourage our CureTogether members to join us in the 23andMe community," added CureTogether Co-Founder Alexandra Carmichael who joins 23andMe as senior product manager, "to help accelerate research discoveries enabled by this unprecedented compilation of community-contributed genetic and phenotypic data."

An ongoing service, 23andMe's Personal Genome Service provides a wealth of information about an individual's DNA and updates about new research. Customers can also choose to participate in the company's unique research programs. By completing online surveys, customers contribute directly to genetic research that can potentially lead to better understanding of and new treatments for a variety of health conditions. To learn more, visit http://www.23andMe.com.

About 23andMe 23andMe, Inc. is a leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company's Personal Genome Service enables individuals to gain deeper insights into their ancestry and inherited traits. The vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. 23andMe, Inc., was founded in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. More information is available at http://www.23andme.com.

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23andMe Acquires CureTogether, Inc.

Sugarland, TEXAS (PRWEB) July 10, 2012

Sugarland cosmetic dentist Dr. Lance Jue from A Beautiful Smile at Lake Pointe has become the first provider of dental stem cell therapy in Fort Bend County.

Dental stem cell therapy saves stem cells from baby teeth, teeth removed for orthodontic reasons and wisdom teeth to help with future infections, injuries or diseases.

Dr. Jue works with Store-A-Tooth, which provides a Tooth Transport Kit, collects and validates the stems cells that are collected from the tooth. The cells are kept frozen until the day they are needed, at which time they are sent to the patients healthcare provider.

Dental stem cells have been used to treat periodontal disease, diabetes, spinal cord injury, stroke and liver disease. Stem cells are different from other cells because they can transform into many different cell types and divide more than other types of cells.

Dental stem cells are particularly effective because they replicate faster than stem cells take from other body tissues.

The initial cost of the Store-A-Tooth service is one-third to one-half the initial cost of storing umbilical cord blood, another source of stem cells.

A Beautiful Smile at Lake Pointe is the dental practice of Dr. Lance Jue. It has served the Houston area's restorative, cosmetic and general dentistry needs for 19 years. Dr. Jue makes an effort to listen to every patient to give him or her the appropriate treatment.

Read the original here:
Dr. Jue Brings Store-A-Tooth Dental Stem Cell Therapy Service to Sugarland

NEW YORK, July 10, 2012 (GLOBE NEWSWIRE) -- NeoStem, Inc. (NYSE MKT:NBS) ("NeoStem" or the "Company"), a cell therapy company, today announced that its CEO will present at the Seventh Annual JMP Securities Healthcare Conference on July 12, 2012.

The presentation will be webcast live and available to view at the following web address: http://wsw.com/webcast/jmp18/nbs/. The webcast will be archived for 90 days following the live presentation.

The Seventh Annual JMP Securities Healthcare Conference

About NeoStem, Inc.

NeoStem, Inc. ("we," "NeoStem" or the "Company") continues to develop and build on its core capabilities in cell therapy to capitalize on the paradigm shift that we see occurring in medicine. In particular, we anticipate that cell therapy will have a large role in the fight against chronic disease and in lessening the economic burden that these diseases pose to modern society. Our January 2011 acquisition of Progenitor Cell Therapy, LLC ("PCT") provides NeoStem with a foundation in both manufacturing and regulatory affairs expertise. We believe this expertise, coupled with our existing research capabilities and collaborations, will allow us to achieve our mission of becoming a premier cell therapy company. Our PCT subsidiary's manufacturing base is one of the few current Good Manufacturing Practices ("cGMP") facilities available for contracting in the burgeoning cell therapy industry. Amorcyte, LLC ("Amorcyte"), which we acquired in October 2011, is developing a cell therapy for the treatment of cardiovascular disease. Amorcyte's lead compound, AMR-001, represents NeoStem's most clinically advanced therapeutic and Amorcyte is enrolling patients for a Phase 2 trial to investigate AMR-001's efficacy in preserving heart function after a heart attack. We also expect to begin a Phase 1 clinical trial by 2012/2013 to investigate AMR-001's utility in arresting the progression of congestive heart failure and the associated comorbidities of that disease. Athelos Corporation ("Athelos"), which is approximately 80%-owned by our subsidiary, PCT, is engaged in collaboration with Becton-Dickinson that is exploring the earlier stage clinical development of a T-cell therapy for autoimmune conditions. In addition, our pre-clinical assets include our VSELTM Technology platform as well as our MSC (mesenchymal stem cells) product candidate for regenerative medicine.

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

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Forward-looking statements reflect management's current expectations, as of the date of this press release, and involve certain risks and uncertainties. Forward-looking statements include statements herein with respect to the successful execution of the Company's business strategy, including with respect to the Company's successful development of cell therapeutics, as well as the future of the cell therapeutics industry. The Company's actual results could differ materially from those anticipated in these forward- looking statements as a result of various factors. Factors that could cause future results to materially differ from the recent results or those projected in forward-looking statements include the "Risk Factors" described in the Company's Annual Report on Form 10-K filed with the Securities and Exchange Commission on March 20, 2012 and in the Company's periodic filings with the Securities and Exchange Commission. The Company's further development is highly dependent on future medical and research developments and market acceptance, which is outside its control.

Read more:
NeoStem to Present at the Seventh Annual JMP Securities Healthcare Conference

Tuloy na ang stem cell therapy ni Annabelle Rama dahil naka-schedule na siyang pumunta sa Germany sa first week ng September.

Kasama ni Annabelle sa Germany trip ang kanyang anak na si Ruffa Gutierrez. Hindi ako sure kung may plano rin si Ruffa na magpa-stem cell therapy dahil walang age limit ang procedure na pinag-uusapan na ngayon sa apat na sulok ng showbiz.

Tinutukso si Annabelle Rama na may kinalaman sa kanyang pagkandidato sa Cebu ang desisyon niya na sumailalim sa stem cell therapy.

Tumawa lang si Bisaya na mukhang seryoso na sa pagkandidato bilang kongresista ng North Cebu sa eleksiyon sa susunod na taon.

Binibiro si Bisaya na magpapa-stem cell therapy siya para kundisyon na kundisyon ang katawan niya habang nangangampanya sa North Cebu.

Ayaw kumpirmahin ni Bisaya ang political plans niya. Hintayin na lamang daw ng mga tao ang kanyang bonggang announcement sa October.

Asawa ni Jose nag-iba ng abogado matapos matalo

How true na iba na raw ang lawyers ni Analyn Manalo kaya tumanggi nang magsalita ang kanyang mga dating abogado?

Si Analyn ang kontrobersiyal na dyowa ni Jose Manalo. Ilang buwan nang nasa news ang mag-asawa dahil sa kanilang paghihiwalay.

News noong weekend na natalo si Analyn sa kaso na isinampa niya laban kay Jose.

See the article here:
Bibiyahe sa Germany kasama si Ruffa, Annabelle magpapakondisyon sa kampanya kaya magpapa-stem cell therapy

ScienceDaily (July 10, 2012) Black skin cancer, also known as melanoma, is particularly aggressive and becoming increasingly common in Switzerland. Despite intensive research, however, there is still no treatment. Researchers from the University of Zurich have now discovered a gene that plays a central role in black skin cancer. Suppressing this gene in mice inhibits the development of melanoma and its proliferation -- a discovery that could pave the way for new forms of therapy.

Until recently, it was assumed that a tumor was composed of many equivalent cells that all multiply malignantly and can thus contribute towards tumor growth. According to a more recent hypothesis, however, a tumor might also consist of malignant cancer stem cells and other less aggressive tumor cells. Normally, stem cells are responsible for the formation of organs. Cancer stem cells can divide in a very similar way and develop into other tumor cells to form the tumor. Efficient tumor therapy thus primarily needs to fight cancer stem cells. Consequently, a team of stem-cell researchers from the University of Zurich headed by Professor Sommer decided to find out whether mechanisms that are important for normal stem cells also play a role in cancer stem cells.

Regulating gene discovered in tumor

Melanoma cells are rogue skin-pigment cells formed by so-called neural crest stem cells during embryonic development. Professor Sommer's group teamed up with dermatologists and pathologists to investigate whether cells with characteristics of these specific stem cells are present in human tumor tissue. "This was indeed the case, as we were able to prove based on numerous biopsies performed on melanoma patients," says Sommer. In particular, one gene that effectively controls the stem-cell program was highly active in all the tumor tissue studied. This gene, which is known as "Sox10," is essential for cell division and the survival of stem cells.

Gene suppression inhibits cancer

The next step for the Zurich researchers was to test how Sox10 works in human melanoma cells. They determined that the gene also controls a stem-cell program in cancer cells and is necessary for cell division. In order to corroborate these findings in a living organism, the researchers ultimately used a mouse which carried similar genetic mutations to those found in human melanoma and thus developed black skin cancer spontaneously. Astonishingly, the suppression of Sox10 in this animal model completely inhibited the formation and spread of cancer.

"Our research demonstrates that a tumor could probably be treated by attacking its stem cells," concludes Sommer. The results also illustrate that such studies can primarily be successful through the close collaboration and conscious use of synergies between basic researchers and clinicians.

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Melanoma-promoting gene discovered

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

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

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

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."

See the original post here:
UTHealth, French researchers discover gene defect for new syndrome

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

(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

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

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

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