Chaput Farms Improves Herd Genetics with CLARIFIDE
Chaput Farms is home to 850 Holsteins near North Troy, Vermont. Owner Reg Chaput and herd manager Paul Lavoie have worked with their genetic supplier and Zoe...

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April 25, 2014

Alzheimer's, caused by toxic proteins that destroy brain cells, is the most common form of dementia. AFP/Relaxnews pic, April 25, 2014.Spanish scientists have for the first time used gene therapy to reverse memory loss in mice with Alzheimer's, an advance that could lead to new drugs to treat the disease, they said Wednesday.

The Autonomous University of Barcelona team injected a gene which causes the production of a protein that is blocked in patients with Alzheimer's into the hippocampus a region of the brian essential to memory processing in mice that were in the initial stages of the disease.

"The protein that was reinstated by the gene therapy triggers the signals needed to activate the genes involved in long-term memory consolidation," the university said in a statement.

Gene therapy involves transplanting genes into a patient's cells to correct an otherwise incurable disease caused by a failure of one or another gene.

The finding was published in The Journal of Neuroscience and it follows four years of research.

"The hope is that this study could lead to the development of pharmaceutical drugs that can activate these genes in humans and allow for the recovery of memory," the head of the research team, Carlos Saura, told AFP.

Alzheimer's, caused by toxic proteins that destroy brain cells, is the most common form of dementia.

Worldwide, 35.6 million people suffer from the fatal degenerative disease, which is currently incurable, and there are 7.7 million new cases every year, according to a 2012 report from the World Health Organisation.

In 2010 the total global societal cost of dementia was estimated to be US$604 billion, according to Alzheimer's Disease International, a federation of Alzheimer associations around the world. AFP/Relaxnews, April 25, 2014.

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Searchable database for the Institute for Personalized Medicine

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HelpHOPELive Client Selma Takes Bigs Strides After Spinal Cord Injury
After three years of unwavering perseverance and extensive therapy (paid by funds raised through HelpHOPELive), Selma has regained enough movement in her leg...

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PSTI and the Alliance for Regenerative Medicine Advocate for Industry Advancement in D.C.
HAIFA, Israel, April 22, 2014 (GLOBE NEWSWIRE) -- Pluristem Therapeutics, Inc. (PSTI) (TASE:PLTR), a leading developer of placenta-based cell therapies, anno...

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Regenerative Medicine in Equines
A multimedia project for the 2013 student bio expo (Danica Schmidtke, Emily Eastwood) How stem cells and PRP treatments have transformed the healing process ...

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Regenerative Medicine in Equines - Video

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Treatment for Degenerative, Bulging and Herniated Discs Minimally Invasive Stem Cell Therapy
Treatment for Bulging and Herniated Discs in Thailand http://stemcellthailand.org/services-list/stem-cell-treatment-degenerative-disc-disease-back-surgery-al...

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Research team at York University aims to improve bone disease treatment

12:45pm Friday 25th April 2014 in News By Barry Nelson, Health Editor

RESEARCHERS are aiming to develop new therapies for osteoarthritis by rejuvenating old stem cells to repair cartilage damage.

A research team at York University have been awarded 190,158 from the medical research charity Arthritis Research UK to carry out a three-year study to investigate how rejuvenated cells from older people with osteoarthritis can be used to repair worn or damaged cartilage, reducing chronic pain.

There is currently no treatment to prevent the progression of osteoarthritis, and people with severe disease often need total joint replacement surgery.

A patients own bone marrow stem cells are a valuable source of potential treatment as they can generate joint tissue that wont be rejected when re-implanted. However, as people grow older the number of stem cells decreases and those that remain are less able to grow and repair tissue.

Dr Paul Genever, lead researcher, who heads up the Arthritis Research UK Tissue Engineering Centre at the University of York said: A way to reset stem cells to an earlier time point, termed rejuvenation, has recently been discovered, allowing more effective tissue repair.

This project will firstly compare rejuvenated and non-rejuvenated stem cells to see if the process improves cartilage repair, and secondly, investigate whether it is possible to develop new drugs which are able to rejuvenate stem cells.

In the UK, more than 8m people, have sought treatment from their GP for the condition, which causes pain and stiffness in the joints due to cartilage at the ends of bones wearing away.

Professor Alan Silman, medical director at charity Arthritis Research UK, said: This is pioneering research, which has the potential to help reduce pain and disability and improving quality of life of those living with osteoarthritis.

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24-Apr-2014

Contact: Jenny Gimpel jenny.gimpel@kcl.ac.uk 44-020-784-84334 King's College London

An international team led by King's College London and the San Francisco Veteran Affairs Medical Center (SFVAMC) has developed the first lab-grown epidermis the outermost skin layer - with a functional permeability barrier akin to real skin. The new epidermis, grown from human pluripotent stem cells, offers a cost-effective alternative lab model for testing drugs and cosmetics, and could also help to develop new therapies for rare and common skin disorders.

The epidermis, the outermost layer of human skin, forms a protective interface between the body and its external environment, preventing water from escaping and microbes and toxins from entering. Tissue engineers have been unable to grow epidermis with the functional barrier needed for drug testing, and have been further limited in producing an in vitro (lab) model for large-scale drug screening by the number of cells that can be grown from a single skin biopsy sample.

The new study, published in the journal Stem Cell Reports, describes the use of human induced pluripotent stem cells (iPSC) to produce an unlimited supply of pure keratinocytes the predominant cell type in the outermost layer of skin - that closely match keratinocytes generated from human embryonic stem cells (hESC) and primary keratinocytes from skin biopsies. These keratinocytes were then used to manufacture 3D epidermal equivalents in a high-to-low humidity environment to build a functional permeability barrier, which is essential in protecting the body from losing moisture, and preventing the entry of chemicals, toxins and microbes.

A comparison of epidermal equivalents generated from iPSC, hESC and primary human keratinocytes (skin cells) from skin biopsies showed no significant difference in their structural or functional properties compared with the outermost layer of normal human skin.

Dr Theodora Mauro, leader of the SFVAMC team, says: "The ability to obtain an unlimited number of genetically identical units can be used to study a range of conditions where the skin's barrier is defective due to mutations in genes involved in skin barrier formation, such as ichthyosis (dry, flaky skin) or atopic dermatitis. We can use this model to study how the skin barrier develops normally, how the barrier is impaired in different diseases and how we can stimulate its repair and recovery."

Dr Dusko Ilic, leader of the team at King's College London, says: "Our new method can be used to grow much greater quantities of lab-grown human epidermal equivalents, and thus could be scaled up for commercial testing of drugs and cosmetics. Human epidermal equivalents representing different types of skin could also be grown, depending on the source of the stem cells used, and could thus be tailored to study a range of skin conditions and sensitivities in different populations."

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Skin layer grown from human stem cells could replace animals in drug and cosmetics testing

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Scientists able to produce one centimetre-wide fragments of epidermis Outer layer of skin created in a laboratory using stem cells Experts say the lab-grown skin could be used for testing lotions or creams Team from King's College London worked with scientists from the US

By Lucy Crossley

Published: 14:31 EST, 24 April 2014 | Updated: 14:42 EST, 24 April 2014

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Breakthrough: Scientists in the UK and US have been able to grow artificial skin which could replace animals in drug and cosmetics testing in a laboratory (file photo)

Artificial skin which could replace animals in drug and cosmetics testing has been grown in a laboratory for the first time.

Scientists in the UK and US were able to produce one centimetre-wide fragments of epidermis - the outermost skin layer - from stem cells with the same properties as real skin.

The epidermis forms a protective barrier between the body and external environment, preventing water from escaping while keeping out microbes and toxins.

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Artificial skin grown in laboratory for first time

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An international team led by King's College London and the San Francisco Veteran Affairs Medical Center (SFVAMC) has developed the first lab-grown epidermis -- the outermost skin layer -- with a functional permeability barrier akin to real skin. The new epidermis, grown from human pluripotent stem cells, offers a cost-effective alternative lab model for testing drugs and cosmetics, and could also help to develop new therapies for rare and common skin disorders.

The epidermis, the outermost layer of human skin, forms a protective interface between the body and its external environment, preventing water from escaping and microbes and toxins from entering. Tissue engineers have been unable to grow epidermis with the functional barrier needed for drug testing, and have been further limited in producing an in vitro (lab) model for large-scale drug screening by the number of cells that can be grown from a single skin biopsy sample.

The new study, published in the journal Stem Cell Reports, describes the use of human induced pluripotent stem cells (iPSC) to produce an unlimited supply of pure keratinocytes -- the predominant cell type in the outermost layer of skin -- that closely match keratinocytes generated from human embryonic stem cells (hESC) and primary keratinocytes from skin biopsies. These keratinocytes were then used to manufacture 3D epidermal equivalents in a high-to-low humidity environment to build a functional permeability barrier, which is essential in protecting the body from losing moisture, and preventing the entry of chemicals, toxins and microbes.

A comparison of epidermal equivalents generated from iPSC, hESC and primary human keratinocytes (skin cells) from skin biopsies showed no significant difference in their structural or functional properties compared with the outermost layer of normal human skin.

Dr Theodora Mauro, leader of the SFVAMC team, says: "The ability to obtain an unlimited number of genetically identical units can be used to study a range of conditions where the skin's barrier is defective due to mutations in genes involved in skin barrier formation, such as ichthyosis (dry, flaky skin) or atopic dermatitis. We can use this model to study how the skin barrier develops normally, how the barrier is impaired in different diseases and how we can stimulate its repair and recovery."

Dr Dusko Ilic, leader of the team at King's College London, says: "Our new method can be used to grow much greater quantities of lab-grown human epidermal equivalents, and thus could be scaled up for commercial testing of drugs and cosmetics. Human epidermal equivalents representing different types of skin could also be grown, depending on the source of the stem cells used, and could thus be tailored to study a range of skin conditions and sensitivities in different populations."

Story Source:

The above story is based on materials provided by King's College London. Note: Materials may be edited for content and length.

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Stem Cell Therapy | bone marrow concentrate for osteoarthritis
http://www.arthritistreatmentcenter.com In the next video I #39;ll report on another study showing the effectiveness of stem cells in the treatment of osteoarthritis... New Study Shows Positive...

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Image Caption: This shows regenerated auditory nerves after gene therapy (top) compared with no treatment (below). Credit: UNSW Translational Neuroscience Facility

[ Watch The Video: Bionic Ear Delivers DNA To Regrow Auditory Nerve Cells ]

University of New South Wales

Researchers at UNSW Australia have for the first time used electrical pulses delivered from a cochlear implant to deliver gene therapy, thereby successfully regrowing auditory nerves.

The research also heralds a possible new way of treating a range of neurological disorders, including Parkinsons disease, and psychiatric conditions such as depression through this novel way of delivering gene therapy.

The research is published today (Thursday 24 April) in the prestigious journal Science Translational Medicine.

People with cochlear implants do well with understanding speech, but their perception of pitch can be poor, so they often miss out on the joy of music, says UNSW Professor Gary Housley, who is the senior author of the research paper.

Ultimately, we hope that after further research, people who depend on cochlear implant devices will be able to enjoy a broader dynamic and tonal range of sound, which is particularly important for our sense of the auditory world around us and for music appreciation, says Professor Housley, who is also the Director of the Translational Neuroscience Facility at UNSW Medicine.

The research, which has the support of Cochlear Limited through an Australian Research Council Linkage Project grant, has been five years in development.

[ Watch The Video: Regenerated Auditory Nerves ]

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Existing Cochlear Technology Used To Re-grow Auditory Nerves

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Deciphering Nature #39;s Alphabet - 4. Imagining the Genome
This film describes the launch of the Human Genome Project, how the idea emerged from the growing genetic engineering capacity, the technologies, politics and finances of genomics. Key inte

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Deciphering Nature's Alphabet - 4. Imagining the Genome - Video

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Deciphering Nature #39;s Alphabet - 3. Developing Genetic Tools
This film describes the conversion of these new DNA handling technologies into a viable business model that puts biology on the same plane as physics -- at least in terms of products it can...

By: GenomeTV

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24-Apr-2014

Contact: Tamlyn Oliver toliver@clinicalomics.com 914-740-2199 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, April 24, 2014GEN Publishing recently introduced Clinical OMICs a semi-monthly digital publication focusing on the application of OMICs technologies in clinical settings. These advanced techniques, such as next-gen sequencing, are beginning to transform medical care just as they revolutionized basic life science research over the past decade-and-a-half.

"GEN's editors and reporters have written about the research use of pharmacogenomics, genomics, metabolomics, transcriptomics, etc. etc. for years," said John Sterling, editor-in-chief of Genetic Engineering & Biotechnology News (GEN). "The rapid advance of OMICs technologies has reached the point where we are convinced that the time is now for a new publication that shows how these diagnostic methodologies are dramatically impacting clinical practice."

Clinical OMICs is directed at clinical lab directors and managers, oncologists, infectious disease specialists, and cardiologists. Intended to serve as a resource for the development and standardization of best OMICs practices, Clinical OMICs provides critical information and insights on the trend toward personalized medicine.

The premier issue contains articles on translating OMICs into cancer biology and medicine, how payers are grappling with reimbursement issues, a profile of Lawrence Brody, who is overseeing NHGRI's new division of genomics and society, the move of next-gen sequencing systems into the clinic, and a case study of a genomics test for coronary artery disease. Late-breaking clinical OMICs news, OMICs-related clinical APPS, and new products are also featured.

###

About Clinical OMICs

Clinical OMICs is brought to you by GEN Publishing, the parent company of Genetic Engineering & Biotechnology News.

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BALTIMORE, MD. Scientists have built a custom chromosome -- a package of genetic material assembled entirely from synthetic DNA. This engineered chromosome belongs to yeast, but experts say it can help them understand how genes work in humans as well. And it could help make these tiny living factories better at producing everything from medicines to biofuels. Students were key to the project In a lab at Johns Hopkins University, students stitched together machine-made strands of DNA, the chemical that carries the genetic blueprints of life. Their goal: to assemble all 6,000 genes in the genome of yeast. "So, in every single well there should have hopefully been something, said Macintosh Cornwell, a student at Johns Hopkins. Cornwell, a junior, is looking for signs his last stitching reaction worked. So, overall, we had pretty moderate success across the board, he said. Johns Hopkins geneticist Jef Boeke leads the class. He said yeast does familiar jobs, like turning grapes into wine, but they also do more than that. We have yeast that are used not just to make alcohol and bread, but also all kinds of chemicals, medicines, vaccines and fuels. And I think were going to see more and more of this in the future, said Boeke. And with genetic engineering, Boeke said, scientists could help yeast do those jobs better. Plus, these one-celled creatures share about a third of their genes with us. Studying their genes can teach us a lot about ourselves. Like us, yeast cells keep their genetic material in bundles of DNA known as chromosomes. Think of each chromosome as a book of genetic instructions, Boeke said. The book would be made up of chapters, the chapters would be made up of paragraphs and words and, ultimately letters, explained Boeke. And each gene is a word made up of letters of DNA, the chemical chain that forms the iconic twisted ladder shape. Boekes class has strung together all the words in one genetic book so far -- one chromosome out of yeasts 16. They engineered the new chromosome to let researchers shuffle genes around like a deck of cards. Some will have winning decks at making biofuels and some at making some other useful product, he said. Researchers say they are careful to consider the ethical implications of re-writing the code of life, but Boeke adds that his students are learning the basic tools of modern biology and getting excited about the possibilities. We could teach them how to do something at once very practical but at the same time amazing and unique, said Boeke. Cornwell said its helped him prepare for a career in science. The range of skills you learn and the amount of experience you get in such a small time period, its invaluable, really, said Cornwell. He and his class are on the cutting edge of this new world of biology.

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Scientists Build a Custom Chromosome

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Today, April 25, 2014 is National Arbor Day and a reminder of the importance that individuals and groups need to plant and care for trees. This means ensuring that arboriculturists and foresters have access to the most up to date agricultural technologies. The American Chestnut blight is recent example of how genetic engineering has served as one of these vital technologies.

A recent piece published in Scientific American told of the blight of the American Chestnut nearly wiped out by a fungal disease and efforts to genetically engineer the trees to resist the fungus and reintroduce healthy trees back into America forests. Ferri Jabrs A New Generation of American Chestnut Trees May Redefine Americas Forests examines the history of the American Chestnut going from its role of providing food and shelter for animals and people to nearly becoming obsolete.

Before the early 1900s, one in every four hardwood trees in North Americas eastern forests was an American chestnut, providing copious food and shelter for animals and people alike.

A New York City nurseryman named S. B. Parsons imported Japanese chestnut trees in 1876, which he raised and sold to customers who wanted something a little exotic in their gardens. Other nurseries in New Jersey and California soon did the same.

One or perhaps allof these shipments concealed the pathogenic fungusCryphonectria parasitica, which chokes chestnut trees to death by wedging itself into their trunks and obstructing conduits for water and nutrients. Asian chestnut trees had long evolved resistance toC. parasitica, but their American relativeswhich had never encountered the pathogen beforewere extremely susceptible to the fungal disease known as chestnut blight.

In 1904 the fungus was first discovered in New York State and soon spread to New Jersey, Connecticut, Massachusetts and Pennsylvania. Within 50 years,C. parasitica killednearly four billion chestnut trees.

Since the 1980s several generations of researchers at the State University of New York College of Environmental Science and Forestry (S.U.N.Y.ESF) have toiled to restore the American chestnut to its native habitat. Genetic engineering has offered a successful route to restoration.

By taking genes from wheat, Asian chestnuts, grapes, peppers and other plants and inserting them into American chestnut trees, William Powell of S.U.N.Y.ESF and scores of collaborators have created hundreds of transgenic trees that are almost 100 percent genetically identical wild American chestnut yet immune to C. parasitica.

The scientists hope to get federal approval to begin planting these trees in the forest within the next five years (See The American Chestnuts Genetic Rebirth in the March 2014 issue of Scientific American).

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Remember the American Chestnut Tree on Arbor Day

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20 hours ago Side view of a pregnant tsetse fly. Credit: Geoffrey M. Attardo

Mining the genome of the disease-transmitting tsetse fly, researchers have revealed the genetic adaptions that allow it to have such unique biology and transmit disease to both humans and animals.

The tsetse fly spreads the parasitic diseases human African trypanosomiasis, known as sleeping sickness, and Nagana that infect humans and animals respectively.

Throughout sub-Saharan Africa, 70 million people are currently at risk of deadly infection. Human African trypanosomiasis is on the World Health Organization's (WHO) list of neglected tropical diseases and since 2013 has become a target for eradication. Understanding the tsetse fly and interfering with its ability to transmit the disease is an essential arm of the campaign.

This disease-spreading fly has developed unique and unusual biological methods to source and infect its prey. Its advanced sensory system allows different tsetse fly species to track down potential hosts either through smell or by sight. This study lays out a list of parts responsible for the key processes and opens new doors to design prevention strategies to reduce the number of deaths and illness associated with human African trypanosomiasis and other diseases spread by the tsetse fly.

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"Tsetse flies carry a potentially deadly disease and impose an enormous economic burden on countries that can least afford it by forcing farmers to rear less productive but more trypanosome-resistant cattle." says Dr Matthew Berriman, co-senior author from the Wellcome Trust Sanger Institute. "Our study will accelerate research aimed at exploiting the unusual biology of the tsetse fly. The more we understand, the better able we are to identify weaknesses, and use them to control the tsetse fly in regions where human African trypanosomiasis is endemic."

The team, composed of 146 scientists from 78 research institutes across 18 countries, analysed the genome of the tsetse fly and its 12,000 genes that control protein activity. The project, which has taken 10 years to complete, will provide the tsetse research community with a free-to-access resource that will accelerate the development of improved tsetse-control strategies in this neglected area of research.

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The tsetse fly is related to the fruit fly a favoured subject of biologists for more than 100 years but its genome is twice as large. Within the genome are genes responsible for its unusual biology. The reproductive biology of the tsetse fly is particularly unconventional: unlike most insects that lay eggs, it gives birth to live young that have developed to a large size by feeding on specialised glands in the mother.

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Genetic code of the deadly tsetse fly unraveled

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PUBLIC RELEASE DATE:

24-Apr-2014

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

New Rochelle, NY, April 24, 2014D-ribose is a commercially important sugar used as a sweetener, a nutritional supplement, and as a starting compound for synthesizing riboflavin and several antiviral drugs. Genetic engineering of Escherichia coli to increase the bacteria's ability to produce D-ribose is a critical step toward achieving more efficient industrial-scale production of this valuable chemical, as described in an article in Industrial Biotechnology, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available on the Industrial Biotechnology website.

In "Engineering Escherichia coli for D-Ribose Production from Glucose-Xylose Mixtures." Pratish Gawand and Radhakrishnan Mahadevan, University of Toronto, Canada, describe the metabolic engineering strategy they used to increase the yield of D-ribose from the genetically modified E. coli, which were able to produce D-ribose from mixtures of glucose and xylose. The authors propose future research directions for additional metabolic engineering and bioprocess optimization.

"The research article by Gawand and Mahadevan represents one of many ways that molecular biology is being deployed to expand Industrial Biotechnology development," says Co-Editor-in-Chief Larry Walker, PhD, Professor, Biological & Environmental Engineering, Cornell University, Ithaca, NY.

###

About the Journal

Industrial Biotechnology, led by Co-Editors-in-Chief Larry Walker, PhD, and Glenn Nedwin, PhD, MoT, CEO and President, Taxon Biosciences, Tiburon, CA, is an authoritative journal focused on biobased industrial and environmental products and processes, published bimonthly in print and online. The Journal reports on the science, business, and policy developments of the emerging global bioeconomy, including biobased production of energy and fuels, chemicals, materials, and consumer goods. The articles published include critically reviewed original research in all related sciences (biology, biochemistry, chemical and process engineering, agriculture), in addition to expert commentary on current policy, funding, markets, business, legal issues, and science trends. Industrial Biotechnology offers the premier forum bridging basic research and R&D with later-stage commercialization for sustainable biobased industrial and environmental applications.

About the Publisher

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Engineered E. coli produces high levels of D-ribose as described in Industrial Biotechnology journal

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1 hour ago

Contrary to common scientific belief, many genes are switched "on" by default. These findings are from a study by Prof. Dr. Frank Holstege of University Medical Center (UMC) Utrecht that has been published in the April 24 edition of Cell.

Genetic differences between individuals affect the origin and treatment of diseases, a fact that has prompted more and more wide-scale genetic research. However, it seems that we sometimes lack very basic genetic knowledge.

Holstege's research shows that contrary to common opinion, many genes are by default actually switched "on". Given that DNA is wrapped in proteins, most scientists assumed that it could not be read by the cell. Transcription can only begin when so-called transcription factors bind to the DNA. Holstege and his colleagues show that nearly half of the transcription factors actually prevent the DNA from being read. It would seem that in most circumstances these genes should first be actively switched "off".

1,600 genes analyzed

Holstege and his colleagues used yeast as the model organism for their research. Yeast may seem far removed from humans, but its genes are controlled in exactly the same way as in human cells. Holstege et al. analyzed the role played by 1,600 genes, a quarter of all known yeast genes. They studied the effect that mutations in all those genes have on the gene expression of all other genes. This is the largest systematic study of the effect of mutation on gene expression to date.

Holstege has previously demonstrated that it is actually not necessarily useful to look at the effect of changes in just one gene. All genes are active in networks that are often organized in such a way that they can replace defective genes (Cell, December 10, 2010). The new study is the first step to mapping out the entire genetic control network.

"Comparative genetic research into patients and healthy subjects is very important," says Holstege. "It provides information on the cellular pathways associated with diseases. Our research shows, however, that it's hard to understand cells if you don't take the simultaneous activity of all genes into account."

Explore further: Research brings significant improvement in genetic analysis of tumours

Every tumour is unique and requires specific treatment. A thorough and complete analysis of the genetic activity in the tumour cells is necessary to determine the appropriate treatment. Researchers at TU ...

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Many genes are switched on by default

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PUBLIC RELEASE DATE:

24-Apr-2014

Contact: Scott LaFee slafee@ucsd.edu 619-543-6163 University of California - San Diego

A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell.

The findings were generated by two independent but collaborative scientific teams, one based primarily at Baylor College of Medicine and the Austrian Academy of Sciences, the other at the University of California, San Diego School of Medicine, the Academic Medical Center (AMC) in the Netherlands and the Yale University School of Medicine.

By performing DNA sequencing of more than 4,000 families affected by neurological problems, the two research teams independently discovered that a disease marked by reduced brain size and sensory and motor defects is caused by a mutation in a gene called CLP1, which is known to regulate tRNA metabolism in cells. Insights into this rare disorder, the researchers said, may have important implications for the future treatment of more common neurological conditions.

"What we found particularly striking, when considering the two studies together, is that this is not a condition that we would have been able to separate from other similar disorders based purely on patient symptoms or clinical features", said Joseph G. Gleeson, MD, Howard Hughes Medical Institute investigator, professor in the UC San Diego departments of Neurosciences and Pediatrics and at Rady Children's Hospital-San Diego, a research affiliate of UC San Diego. "Once we had the gene spotted in these total of seven families, then we could see the common features. It is the opposite way that doctors have defined diseases, but represents a transformation in the way that medicine is practiced."

Each child tested was affected by undiagnosed neurological problems. All of the children were discovered to carry a mutation in the CLP1 gene and displayed the same symptoms, such as brain malformations, intellectual disabilities, seizures and sensory and motor defects. A similar pattern emerged in both studies, one led by Gleeson, with Murat Gunel, MD, of the Yale University School of Medicine and Frank Baas, PhD, of the Academic Medical Center in the Netherlands, and the other by Josef Penninger and Javier Martinez of the Austrian Academy of Sciences, teamed with James R. Lupski, MD, PhD, of the Baylor College of Medicine.

"Knowing fundamental pathways that regulate the degeneration of neurons should allow us to define new pathways that, when modulated, might help us to protect motor neurons from dying, such as in Lou Gehrig's disease," said Penninger, scientific director of the Institute of Molecular Biotechnology of the Austrian Academy of Sciences.

The CLP1 protein plays an important role in generating mature, functional molecules called transfer RNAs (tRNAs), which shuttle amino acids to cellular subunits called ribosomes for assembly into proteins. Mutations affecting molecules involved in producing tRNAs have been implicated in human neurological disorders, such as pontocerebellar hypoplasia (PCH), a currently incurable neurodegenerative disease affecting children. Although CLP1 mutations have been linked to neuronal death and motor defects in mice, the role of CLP1 in human disease was not known until now.

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Researchers discover new genetic brain disorder in humans

Recommendation and review posted by Bethany Smith

A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell.

The findings were generated by two independent but collaborative scientific teams, one based primarily at Baylor College of Medicine and the Austrian Academy of Sciences, the other at the University of California, San Diego School of Medicine, the Academic Medical Center (AMC) in the Netherlands and the Yale University School of Medicine.

By performing DNA sequencing of more than 4,000 families affected by neurological problems, the two research teams independently discovered that a disease marked by reduced brain size and sensory and motor defects is caused by a mutation in a gene called CLP1, which is known to regulate tRNA metabolism in cells. Insights into this rare disorder, the researchers said, may have important implications for the future treatment of more common neurological conditions.

"What we found particularly striking, when considering the two studies together, is that this is not a condition that we would have been able to separate from other similar disorders based purely on patient symptoms or clinical features," said Joseph G. Gleeson, MD, Howard Hughes Medical Institute investigator, professor in the UC San Diego departments of Neurosciences and Pediatrics and at Rady Children's Hospital-San Diego, a research affiliate of UC San Diego. "Once we had the gene spotted in these total of seven families, then we could see the common features. It is the opposite way that doctors have defined diseases, but represents a transformation in the way that medicine is practiced."

Each child tested was affected by undiagnosed neurological problems. All of the children were discovered to carry a mutation in the CLP1 gene and displayed the same symptoms, such as brain malformations, intellectual disabilities, seizures and sensory and motor defects. A similar pattern emerged in both studies, one led by Gleeson, with Murat Gunel, MD, of the Yale University School of Medicine and Frank Baas, PhD, of the Academic Medical Center in the Netherlands, and the other by Josef Penninger and Javier Martinez of the Austrian Academy of Sciences, teamed with James R. Lupski, MD, PhD, of the Baylor College of Medicine.

"Knowing fundamental pathways that regulate the degeneration of neurons should allow us to define new pathways that, when modulated, might help us to protect motor neurons from dying, such as in Lou Gehrig's disease," said Penninger, scientific director of the Institute of Molecular Biotechnology of the Austrian Academy of Sciences.

The CLP1 protein plays an important role in generating mature, functional molecules called transfer RNAs (tRNAs), which shuttle amino acids to cellular subunits called ribosomes for assembly into proteins. Mutations affecting molecules involved in producing tRNAs have been implicated in human neurological disorders, such as pontocerebellar hypoplasia (PCH), a currently incurable neurodegenerative disease affecting children. Although CLP1 mutations have been linked to neuronal death and motor defects in mice, the role of CLP1 in human disease was not known until now.

These scientists performed DNA sequencing on children with neurological problems. Seven out of the more than 4,000 families studied shared an identical CLP1 mutation, which was associated with motor defects, speech impairments, seizures, brain atrophy and neuronal death.

Bass at the AMC said the neurological condition represents a new form of PCH. "Identification of yet another genetic cause for this neurodegenerative disorder will allow for better genetic testing and counseling to families with an affected child," he said.

In a published paper last year, Gleeson and colleagues identified a different gene mutation for a particularly severe form of PCH, and reported early evidence that a nutritional supplement might one day be able to prevent or reverse the condition.

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New genetic brain disorder in humans discovered

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CHICAGO (Reuters) - International teams of researchers using advanced gene sequencing technology have uncovered a single genetic mutation responsible for a rare brain disorder that may have stricken families in Turkey for some 400 years.

The discovery of this genetic disorder, reported in two papers in the journal Cell, demonstrates the growing power of new tools to uncover the causes of diseases that previously stumped doctors.

Besides bringing relief to affected families, who can now go through prenatal genetic testing in order to have children without the disorder, the discovery helps lend insight into more common neurodegenerative disorders, such as ALS, also known as Lou Gehrig's disease, the researchers said.

The reports come from two independent teams of scientists, one led by researchers at Baylor College of Medicine and the Austrian Academy of Sciences, and the other by Yale University, the University of California, San Diego, and the Academic Medical Center in the Netherlands.

Both focused on families in Eastern Turkey where marriage between close relatives, such as first cousins, is common. Geneticists call these consanguineous marriages.

In this population, the researchers focused specifically on families whose children had unexplained neurological disorders that likely resulted from genetic defects.

Both teams identified a new neurological disorder arising from a single genetic variant called CLP1. Children born with this disorder inherit two defective copies of this gene, which plays a critical role in the health of nerve cells.

Babies with the disorder have small and malformed brains, they develop progressive muscle weakness, they do not speak and they are increasingly prone to seizures.

Dr Ender Karaca, a post-doctoral associate in the department of molecular and human genetics at Baylor, first encountered the disorder in 2006 and 2007 during his residency training as a clinical geneticist in Turkey.

"We followed them for years," said Karaca, a lead author on one of the papers. Karaca said he and his colleagues performed some basic genetic tests on the families but to no avail.

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Researchers discover that two defective copies of a single gene cause rare brain disorder

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PUBLIC RELEASE DATE:

24-Apr-2014

Contact: Sid Dinsay sid.dinsay@mountsinai.org 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine

A substantial proportion of risk for developing autism spectrum disorders (ASD), resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at Mount Sinai, who conducted a broad study of almost 2,500 families in the United States and throughout the world. The study, titled "Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders," was first published online in the American Journal of Human Genetics on April 24.

ASD affects about one percent of the population in the United States and is characterized by impairments in social interaction and communication, as well as by repetitive and restricted behaviors. ASD ranges from mild to severe levels of impairment, with cognitive function among individuals from above average to intellectual disability.

Previously, ASD has been shown to be highly inheritable, and genomic studies have revealed that that there are various sources of risk for ASD, including large abnormalities in whole chromosomes, deletions or duplications in sections of DNA called copy number variants (CNVs), and even changes of single nucleotides (SNVs) within a gene; genes contain instructions to produce proteins that have various functions in the cell.

The researchers reported numerous CNVs affecting genes, and found that these genes are part of similar cellular pathways involved in brain development, synapse function and chromatin regulation. Individuals with ASD carried more of these CNVs than individuals in the control group, and some of them were inherited while others were only present in offspring with ASD.

An earlier study, results of which were first published in 2010, highlighted a subset of these findings within a cohort of approximately 1,000 families in the U.S. and Europe; this larger study has expanded that cohort to nearly 2,500 families, each comprising "trios" of two parents and one child. By further aggregating CNVs and SNVs (the latter identified in other studies), Mount Sinai researchers discovered many additional genes and pathways involved in ASD.

"We hope that these new findings will help group individuals with ASD based upon their genetic causes and lead to earlier diagnosis, and smarter, more focused therapies and interventions for autism spectrum disorders," said first author Dalila Pinto, PhD, Assistant Professor of Psychiatry, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. Dr. Pinto is a Seaver Foundation Faculty Fellow, and a member of the Mindich Child Health & Development Institute, the Icahn Institute for Genomics and Multiscale Biology, and the Friedman Brain Institute at the Icahn School of Medicine at Mount Sinai; other Mount Sinai researchers on this study include Mafalda Barbosa, Graduate Student in Psychiatry; Xiao Xu, PhD, Postdoctoral Fellow in Psychiatry; Alexander Kolevzon, MD, Clinical Director of the Seaver Autism Center and Associate Professor of Psychiatry and Pediatrics; and Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center, Vice Chair for Research in Psychiatry, and Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences.

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Genetic alterations in shared biological pathways as major risk factor for ASD

Recommendation and review posted by Bethany Smith