Research points to genes that may help us form memories
Gene expression within neurons is critical for the formation of memories, but it's difficult to identify genes whose expression is altered by learning. Now researchers have successfully monitored the expression of genes in neurons after rats were exposed to auditory fear conditioning, in which a neutral auditory tone is paired with electric shock.
Six hours after fear conditioning, neurons in the auditory thalamus region of the brain increased expression of genes important for regulating protein production, maturation, and degradation. Also, the expression of genes involved in neuronal development was altered in neurons in the auditory cortex region of the brain.
"The findings in this study can lead to further elucidating molecular mechanisms of memory formation. Particularly important is the possibility that molecular approaches might in the near future be useful in the development of therapeutic agents that can be targeted to functionally identified brain circuits for the treatment of memory-related diseases," said Dr. Raphael Lamprecht, co-author of the Journal of Neurochemistry study.
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Is It Ethical to Create Babies From Three DNA Sources? Absolutely
The House of Commons in the U.K. has now voted to permit mitochondrial DNA replacement, which enables babies to be born who have DNA from three people.
Mitochondria are the batteries of our cells that provide energy for cell division and growth. We get ours from our mothers genes. If there is a defect in a mothers mitochondria, it can have devastating consequences for her children, resulting in almost certain death. But, by extracting a mitochondrion from a healthy donor egg, scientists are now able to conduct a miniature organ transplant on the cellular level to create a healthy baby through in vitro fertilization. Such a baby has its parents genes, except for one small but crucial portion obtained from a donor.
The need for the procedure is real. Somewhere around 4,000 children per year in the United States are born with a type of mitochondrial disease. Many do not survive more than a few months. Mitochondrial transplants would help prevent these diseases. So why not use them?
Critics give three main reasons; safety; creating babies with three parents; and the danger of opening the door to more genetic engineering. None of these objections provides a convincing reason against trying to treat what are often lethal diseases.
Is the procedure safe? When it was first tried by my NYULMC colleague, Jamie Grifo, at NYULMC in 2003 he was widely denounced as doing something unsafe with an embryo. The FDA brought his work to a halt. Grifo said he had plenty of data in rodents to show the technique was safe but decided not to push against the FDAs opposition. So what is different now that makes safety less of an issue?
Now we have data from monkeys. Convincing data. The creation of healthy primates was shown in 2009. And we have data from the creation of human embryos. A team of scientists at the Oregon National Primate Research Center and the Oregon Health & Science University proved in 2012 that the transplanted mitochondria made viable embryos. Safety is always an issue but the case for moving forward in the UK and the USA is strong.
Some say three parent babies are weird. It is true that a mitochondrion is taken from a donor but why this makes the donor in any way a parent is beyond me. If I give the battery from my car to a friend whose battery has died does that make me an owner of her car? And even if logic were stretched to say yes, it is not as if this is the first time we have seen babies with three parents. Sperm, egg, and embryo donation and surrogacynot to mention adoptionhave been around a long time without fracturing the nature of the family. This objection gets no traction.
Lastly some say mitochondrial transplants cross a bright ethical line. Changing genes in the lungs of people with immune disease or in the eyes of people with macular degeneration may fix the broken body part but, critics point out, the change is not passed on to future generations. When you change the mitochondria in an egg with a transplant, you make a change that is inherited by every single offspring of any child created from that egg. That is called germline engineering. Germline engineering of mitochondria moves beyond using genetic engineering to fix our body parts into directly engineering the traits of our children. It is a road that could lead, the critics warn, to eugenics.
Well, thats where they are wrong. Transplanting mitochondria is not going to be the method used to create enhanced babies. Traits like height, intelligence, strength, balance, and vision dont reside in the battery part of our cells.
We may well want to draw the line at genetic engineering aimed at making superbabies but all that is involved with mitochondria transplants is trying to prevent dead or very disabled ones. The latter goal is noble, laudable and ought to be praised not condemned.
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Coral reefs are in such bad shape that scientists may have to speed up their evolution
The coral reefs of the world are in serious danger. A recent scientific report on corals in the Caribbean Sea, for instance, found that coral cover declined from 34.8 percent to 16.3 percent from 1970 to 2012.
One of the chief threats to corals is climate change. Not only do warmer waters stress the species, leading to bleaching events like the one pictured above. Climate change provides a double blow to corals because it also brings on ocean acidification, driven by increasing concentrations of carbon dioxide (caused by the burning of fossil fuels) dissolved in seawater. As sea waters acidify, corals have a harder time producing calcium carbonate, which is crucial to reef formation.
Thats why, in the latest issue of Proceedings of the National Academy of Sciences, a group of researchers from the Australian Institute of Marine Science and the Hawaii Institute of Marine Biology now tentatively propose something that they admit is extremely novel in conservation circles. Namely, they suggest that humans may need to intervene in the breeding of corals so as to assist their evolution.
Such anthropogenically enhanced corals may survive better, the researchers suggest, in a world of warming and acidifying seas. Moreover, this environmental engineering may be necessary as a last-ditch effort since, to be blunt, climate change is proceeding so fast with so much change already locked in that there may be no other choice.
So what are they planning to do? This isgenetic alteration, to be sure evolution always is but it isnot what we typically think of as genetic engineering.Although the development of GMO corals might be contemplated in extremis at a future time, we advocate less drastic approaches, notes the study.
Theyre not proposing Frankenstein coral, stressesNancy Knowlton, a marine scientist at the Smithsonian Institution who edited the paper.
Rather, assisted evolution entails a series of strategies that are perhaps best likened to the domestic breeding of anything from dogs to cows to pigeons to change their attributes. Charles Darwin called it artificial selection, as opposed to natural selection, which usually plays out over much longer periods of time.
For corals, heres how it might work. The researchers propose a number of strategies,some affecting corals and some affecting the communities of microbes that live with them in a symbiotic relationship.
For instance, scientists might identify strains of the appropriately namedSymbiodinium tiny microbes that live inside corals and are essentialto reef growth that are more resistant to temperatures. Then they could introduce this strain into corals in the wild that are struggling.
Yet anotherproposal, meanwhile, is actually guiding the evolution of Symbiodinium in the lab by using x-rays or chemicals that would lead the organisms to evolve and adapt more quickly.
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CCFA Research Initiatives: Microbiome and Genetics in Inflammatory Bowel Diseases – Video
CCFA Research Initiatives: Microbiome and Genetics in Inflammatory Bowel Diseases
Watch our webcast on the latest findings in IBD research. Learn more when you visit http://www.ccfa.org.
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African bodybuilding genetics – Video
African bodybuilding genetics
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Let’s Play The Sims 3 Perfect Genetics Challenge Part 2: SPAWN OF SATAN! – Video
Let #39;s Play The Sims 3 Perfect Genetics Challenge Part 2: SPAWN OF SATAN!
What Happens in this part: We give birth to Liatris Morrison. Follow me on social medai! Twitter: https://twitter.com/IzumixxRyouma Blog: http://izumisimspal...
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Genetics The Musical Box @ Srie Echoes in concert@ Teatro Rival RJ 2015 HD – Video
Genetics The Musical Box @ Srie Echoes in concert@ Teatro Rival RJ 2015 HD
an interpretation of work The Musical box Group of progressive rock genesis conducted by genetics Band argentine in Theatre Rival RJ..2015.
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West coast masters genetics – Video
West coast masters genetics
Third eye seed drop.
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The Sims 3: Perfect Genetics – Part 12 – [The Battle of the Bladder] – Video
The Sims 3: Perfect Genetics - Part 12 - [The Battle of the Bladder]
READ ME** In this part: Maya struggles to maintain her needs and we take care of the children! Wedding Venue: ...
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Afrinos primed for market
Geoff Crabb.
The Wellard Group's investment in prime lamb genetics and breeding has positioned the company's farming division, Wellard Agri, for the changing market.
Wellard Agri chief executive Tim Macnamara said its Dongara-based Afrino stud, The Grange, has fast-forwarded its breeding program with last year's 400-head acquisition of the Golden Hill stud from the Ditchburn family.
"The 200 ewes, 180 ram and ewe lambs and six stud sires we picked up from the Golden Hill dispersal sale in October last year has put us three years ahead of schedule," he said.
"This has given us the opportunity to expand the stud to 290 ewes, 190 lamb weaners, 30 ram hoggets and six stud sires."
Mr Macnamara said when Wellard acquired The Grange in 2010, it retained the commercial Afrino line being managed by Grange livestock manager Geoff Crabb because Wellard was keen to utilise and expand on the genetics already in place.
This flock has now developed to about 14,000 commercial Afrino breeding ewes at The Grange.
"The breed has superb growth genetics and delivers profits quickly," Mr Macnamara said.
"It has easy-care wool traits, good fertility and quick growth. Plus the breed has a low birth weight, which makes delivery easier, reducing lambing mortality and animal stress."
Mr Macnamara also said they tested the market for the breed last year, with excellent results.
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Myriad Genetics Plunge 15% On Weak Outlook, But Q2 Adj Profit Tops View
By RTT News, February 03, 2015, 10:34:00 PM EDT
(RTTNews.com) - Shares of Myriad Genetics, Inc. ( MYGN ) plunged nearly 15 percent in extended trading on Tuesday after the diagnostic-testing company provided weak guidance for the third quarter, and slashed earnings and revenue forecast for the full-year 2015.
The company also reported a profit for the second quarter that halved from last year, reflecting higher expenses and a double-digit revenue drop. However, adjusted earnings per share topped analysts' expectations, while quarterly revenues missed their estimates.
Separately, Myriad said Founder, President and CEO Peter Meldrum would retire at the end of fiscal 2015 on June 30 after leading it for the past 24 years. The company has promoted Mark Capone to succeed Meldrum to the positions.
Myriad noted that Capone, a 13-year veteran of the company, has worked closely with Meldrum and the board in charting the strategic direction and managing the overall business of the company.
Capone is currently president of Myriad Genetic Laboratories, Inc. He has almost 30 years of experience in the life science industry, having spent 17 years at Eli Lilly and Co. ( LLY ) in various positions in sales and marketing, research and development, and manufacturing.
"Myriad delivered strong financial results in its second fiscal quarter with revenues increasing nine percent over its first fiscal quarter. In particular, the transition from single cancer testing to the myRisk cancer panel has proceeded exceptionally well with myRisk revenue up 60 percent sequentially," Meldrum said in a statement.
Salt Lake City, Utah-based Myriad reported net income of $24 million or $0.32 per share for the second quarter, sharply lower than $50.4 million or $0.66 per share in the prior-year quarter.
Excluding items, adjusted net income for the latest quarter was $29.90 million or $0.40 per share, compared to $50.61 million or $0.66 per share in the year-ago quarter.
On average, 18 analysts polled by Thomson Reuters expected the company to report earnings of $0.35 per share for the quarter. Analysts' estimates typically exclude special items.
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NANO Gets Personal with Cancer Treatments – Technion Israel – Video
NANO Gets Personal with Cancer Treatments - Technion Israel
Nanotechnology and personalized medicine are combined to provide hope for those suffering from cancer. Learn how Prof. Avi Schroeder and his team in the Laboratory for Targeted Drug Delivery...
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SCI C5 REHABILITATION – Video
SCI C5 REHABILITATION
Spinal cord injury C5 rehabilitation.
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Blood stem cells, Degenerative arthritis in a dog. – Video
Blood stem cells, Degenerative arthritis in a dog.
Degenerative arthritis in a dog. This Rottweiler was taken from the dog pound when he was 11. He was brought to me because of his serious arthritis. Even when his owners were having a barbecue...
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Two UC San Diego Scientists Receive Stem Cell Technology Grants
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Newswise The governing board of the California Institute for Regenerative Medicine (CIRM) has awarded two University of California, San Diego researchers almost $3 million in combined funding to pursue new technologies intended to accelerate advances moving stem cell therapies out of the lab and into the clinic.
The funding was part of almost $30 million in new Tools and Technologies awards announced at CIRMs monthly meeting in San Francisco.
Sometimes even the most promising therapy can be derailed by a tiny problem, said Jonathan Thomas, JD, PhD, chair of the CIRM Board. These awards are designed to help find ways to overcome those problems, to bridge the gaps in our knowledge and ensure that the best research is able to keep progressing and move out of the lab and into clinical trials in patients.
Shaochen Chen, PhD, professor in the Department of Nanoengineering in the Jacobs School of Engineering and a member of the Institute of Engineering in Medicine at UC San Diego, received a $1.3 million in CIRM funding for development of 3D bioprinting techniques using human embryonic stem cell-derived heart muscle cells to create new cardiac tissue.
Millions of Americans suffer from cardiovascular disease, specifically congestive heart failure in which a heart valve ceases to work properly. Current treatment often calls for a valve transplant, but donor availability does not meet need.
Chen and colleagues are exploring the possibility of engineering healthy cardiac tissues bioprinted from heart muscle cells, called cardiomyocytes, created from human embryonic stem cells. These tissues could then be implanted in a damaged heart, restoring function.
Shyni Varghese, PhD, associate professor in the Department of Bioengineering at the Jacobs School of Engineering and director of the Bio-Inspired Materials and Stem Cell Engineering Laboratory, received a $1.4 CIRM grant to improve in vivo function of transplanted stem cells.
Vargheses lab focuses upon the complex interactions of cells with their surrounding microenvironment, and how the conditions necessary to promote normal, healthy survival and growth occur.
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UCSD scientists awarded $2.7M grants for stem cell research
LA JOLLA (CNS) - Two scientists with UC San Diego were awarded a combined $2.7 million in grants from the California Institute for Regenerative Medicine to pursue their studies on stem cell therapies, the school announced Monday.
Shyni Varghese, an associate professor in the Department of Bioengineering and director of the Bio-Inspired Materials and Stem Cell Engineering Laboratory, received a $1.4 CIRM grant to improve the function of transplanted stem cells.
Shaochen Chen, a professor in the Department of Nanoengineering in the Jacobs School of Engineering and a member of UCSD's Institute of Engineering in Medicine, received $1.3 million to develop three-diminensional bioprinting techniques that use heart muscle cells derived from human embryonic stem cells to create new cardiac tissue.
The awards were part of almost $30 million in grants announced at CIRM's monthly meeting in San Francisco, according to UCSD.
"Sometimes even the most promising therapy can be derailed by a tiny problem," said Jonathan Thomas, chairman of the CIRM Board of Directors. "These awards are designed to help find ways to overcome those problems, to bridge the gaps in our knowledge and ensure that the best research is able to keep progressing and move out of the lab and into clinical trials in patients."
Varghese's lab focuses on the interactions of cells with their surrounding micro-environment, and how the conditions necessary to promote normal, healthy survival and growth occur, according to UCSD.
Chen's studies focus on using stem cells to create new heart tissue that would help patients when transplants aren't immediately available.
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Skin cell gun sprays stem cells for fast recovery from …
Spray-on skin that could help you heal your skin within several days after a serious burn seems as something we used to see in science fiction, but that technology has been developed worldwide for over 5 years. Compared to other currently available skin regeneration or replacement methods, this method shortens the time needed for generation of replacement skin, time needed for rehabilitation, and it is more affordable.
WARNING: The video below contains some graphic images of burns and injuries that are not suitable for everyone. We dont suggest watching if you have a weak stomach.
Spray-on skin was pioneered in Australia by Dr Fiona Wood AM, who patented her invention of spray on skin for burns victims. She was leading a committed team in the fight to save 28 Bali bombing patients suffering from between 2 and 92 percent body burns, deadly infections and delayed shock. Unlike previous techniques of skin culturing which require 21 days to produce enough cells to cover major burns, her method reduced the period to only 5 days.
The research has also been developed a couple of years ago in UK and by the US military which funds various researches related to regeneration and faster healing. They funded a research at University of Pittsburghs McGowan Institute for Regenerative Medicine where researchers developed a prototype gun that creates spray-on skin developed by military scientists.
Instead growing sheets of skin for a period which can last over a month, this approach uses stem cells which are harvested from a small patch of healthy skin from the victim or a donor. Afterwards, it is put into a solution and sprayed back on to the affected area. According to Dr Jrg Gerlach from the University of Pittsburghs McGowan Institute for Regenerative Medicine, the whole process takes only 90 minutes and the burns can heal within four days. It eliminates a major flaw of existing burns treatment, the time taken to grow new layers of skin in the lab, during which time patients can die from infection.
After creating the liquid, it is loaded into a sterile syringe in the skin cell gun and sprayed on the patients burned area. After being sprayed, the patients wound is covered with a special dressing that provides glucose, sugar, amino acids, antibiotics and electrolytes to the treated area, in order to provide nutrition and clean the wound until the stem cells establish their conversion.
The prototype skin cell gun has already been used to help several patients. So, what is the reason we arent seeing this technology used worldwide? Since there is no information about pricing related to this particular technology, Ill use a comparison to a similar method used a couple of years ago by UK researchers where costs were about $9,000 a day. Due to advance in this technology, and the increasing number of competitors in this field, we do believe this treatment should be more affordable today. In any case, if you compare it to the average hospital stay of a burn victim which lasts for two to three weeks and costs which can reach over $3,000 per day, this method proves less expensive.
UPDATE: We wanted to provide our readers with answers and satisfy our curiosity, and DrJrg Gerlach provided us additional information.
The patient shown was treated with a preliminary prototype and we expect to have our final prototype ready in a few months. The technology is not yet FDA approved, so no device can be purchased. The skin gun price will probably be in the range of $9,000, Gerlach said for RobAid.
He added that they are in the phase-I work and have to go through phase-II and II clinical studies, and he estimates theyll need around 4 years. They are developing an electronically processor controlled pneumatic device in a collaboration with a small prototyping company in Berlin, Germany, that does not injure the cells during spraying and bases on medical disposables.
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UCLA Researchers Receive Prestigious CIRM Tools and Technologies Award
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Newswise Two scientists from the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have received a California Institute of Regenerative Medicine (CIRM) Tools and Technology Award that will forward revolutionary stem cell medicine. The UCLA researchers were among only 20 scientists nationwide to receive the Tools and Technologies Award, the most of any institution represented.
Recipients receiving awards for their respective projects included Dr. James Dunn, professor of bioengineering and surgery, for his research investigating skin-derived precursor stem cells for the treatment of enteric neuromuscular dysfunction, and Dr. Hanna Mikkola, associate professor of molecular, cell and developmental biology, for her work creating a suite of engineered human pluripotent stem cell lines to facilitate the generation of patient specific hematopoietic stem cells.
UCLA Broad Stem Cell Research Center Director Owen Witte said, We are very grateful for CIRMs support of these potentially groundbreaking projects intended to overcome significant bottlenecks in driving stem cell therapies to the clinic.
The CIRM Tools and Technologies initiative is designed specifically to support research that can address regenerative medicines unique translational challenges. The award seeks to facilitate the creation, design and testing of broadly applicable novel tools and technologies for addressing translational bottlenecks to stem cell therapies.
Dr. James Dunn: Unlocking the Secrets of Neuromuscular Dysfunction
Dr. Dunns cutting-edge work focuses on assessing the therapeutic potential of skin-derived stem cells to treat neuromuscular gastrointestinal diseases. CIRM reviewers noted that, if successfully completed, the project would likely have a major impact upon the field. His lab will develop a model of intestinal neuromuscular dysfunction that is amenable to stem cell transplantation.
Dunns novel approach to treat these patients will use stem cells reprogrammed from the patients own skin (induced pluripotent stem cells) to generate the neural system to correct the intestinal dysfunction. Dunn and his team hope the research will result in a clinical trial using patient specific induced pluripotent stem cells and provide a critical step toward an improved therapeutic approach and to treat intestinal neuromuscular dysfunction.
Dr. Dunns research was additionally supported by the National Institutes and Sun West Company.
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Heard on the Street: Hormel Institute staffer gets $100,000 for cancer research
The Hormel Institute has announced Rebecca Morris, leader of the Stem Cells and Cancer research section, has received a one-year, $100,000 grant from the Minnesota Chemoprevention Consortium to study bone marrow-derived cells as potential new targets for preventing skin cancer.
The consortium includes the University of Minnesota's Hormel Institute, Mayo Clinic, the U of M's Masonic Cancer Center and Hormel Foods Consortium. The consortium goes by the moniker "MC^2."
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In-demand Pipelines Assessments by DelveInsight Now Available at MarketPublishers.com
London, UK (PRWEB) February 02, 2015
Market Publishers Ltd announces that in-demand pipelines assessments worked out by DelveInsight have been recently added to its catalogue.
Gene Therapy Insight: Pipeline Assessment, Technology Trend, and Competitive Landscape. The novel report comprises an all-round analysis of the world gene therapy market by main regions, includes an insightful review of the prevalent market trends and also examines the key market drivers and resistors. It canvasses the competitive pattern and includes gene therapies profiles with detailed product descriptions. Additionally, the research report overviews the latest partnerships and unveils information on the dormant and discontinued pipeline projects. The latest technologies and innovations within the marketplace are overviewed.
Gene Therapy Oncology Insight: Pipeline Assessment, Market Trend, Technology and Competitive Landscape. The new study offers unbiased insights into the development of the world oncology gene therapy market, identifies the current research therapeutic areas and overviews the key marketed products for gene therapy. Additionally, the new report evaluates the latest developments, outlines the licensing opportunities for gene therapy and unveils data on the pre-clinical and clinical outcomes of the gene therapies. Detailed discussion of the competitive environment, a review of the top market players and their product pipelines are included in the study.
Gene Therapy Central Nervous System Insight: Pipeline Assessment, Market Trend, Technology and Competitive Landscape. The topical report includes reliable data on the central nervous system gene therapy market. It highlights the competitive environment and contains profiles of the leading firms in the market. The new report proceeds with a profound analysis of the research therapeutic areas within the market. It investigates the marketed and pipeline products for gene therapy and overviews the early market winners for both clinical and preclinical gene therapies. Besides, a deep investigation of the key pipeline projects is presented in the report as well.
Gene Therapy Ophthalmology Insight: Pipeline Assessment, Market Trend, Technology and Competitive Landscape. The new research publication gives a detailed discussion of the world ophthalmology gene therapy market development along with an outline of the main market drivers and latest trends. It assesses the licensing opportunities for gene therapies, offers unbiased information on the clinical and pre-clinical outcomes of the gene therapies and reviews the pipeline projects. Moreover, the report analyses the leading companies targeting key therapeutic areas, investigates the early market winners for gene therapy and scrutinizes the pipeline for gene therapy.
More in-demand pipelines assessments and market research studies by the publisher can be found at DelveInsight page.
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Discovery of a Gene Responsible for Familial Scoliosis
Released: 29-Jan-2015 7:00 PM EST Embargo expired: 2-Feb-2015 5:00 PM EST Source Newsroom: Universite de Montreal Contact Information
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Newswise The discovery of the first gene causing familial scoliosis was announced by an international France-Canada research team today. Mystery surrounds the cause of scoliosis, which is a three dimensional deformation of the vertebral column. Many researchers have been attempting to uncover the origins of this disease, particularly from a genetic point of view, explained leading co-author Dr Florina Moldovan of the University of Montreal and the CHU Sainte Justine research hospital. To date, many genes have been suspected of causing scoliosis amongst different populations, but the gene that causes the familial form of the disease remained unknown. Our discovery of this first causative gene is due to the support of the Fondation Yves Cotrel and our international teamwork, in particular with leading co-author Dr. Patrick Edery of CHU de Lyon hospital and Dr. Pierre Drapeau of the CRCHUM.
A variation in the POC5 gene was initially identified by DNA sequencing (exome sequencing) in the samples Dr Patrick Edery collected from a large French family, of whom several members are affected by idiopathic scoliosis. Others variants of the POC5 gene were detected in scoliotic families and in people whose scoliosis had no precedence in their families. The POC5 gene encodes for a centrosomal protein involved in microtubule-organising centres and cellular polarity, explained first author Dr. Shunmoogum (Kessen) Patten, who undertook his post-doctoral work at the CHU Sainte-Justine and CHUM research centres. The pathogenicity of POC5 variants was documented by using the zebrafish, a well-established genetic animal model that has a spine. This model revealed that the over-expression of mutated human POC5 gene led to the rotational deformation of the anterior-posterior axis of the spine in half of the zebrafish embryos. The deformations are similar to the deformations observed in scoliosis patients.
The data suggest that the mutations are dominant, confirming the human genetic analysis. Interestingly, the protein is strongly expressed in the brain, within very precise structures in the midbrain. This leads the research team to believe that there is an association between the brain and idiopathic scoliosis. This is a very heterogenous disease and probably more than one gene is required for disease expression. This discovery has enabled the identification of the first causative gene and represents an important step towards decoding its genetic causes, Dr. Moldovan said. This crucial first step will open the door to future studies that will identify the complementary genes and pathways that play a role in scoliosis in other populations. In particular, a full portrait of genetic events would enable the perfecting of effective preventative methods and strategies for understanding scoliosis, said Dr. Drapeau.
About this study
The researchers published their article entitled Functional variants of POC5 identified in patients with idiopathic scoliosis in The Journal of Clinical Investigation on February 2, 2015. This international collaborative work was performed with the support of the Fondation Yves Cotrel Institut de France, which has supported Dr Moldovans research since 2006. Crucially, during the past 14 years, Dr. Ederys team and colleagues recruited many families with multiple members affected by scoliosis over the generations. Dr Kessen Patten is a post doctoral researcher at the Universit de Montral and is mentored by Dr. Moldovan and Dr. Drapeau of the CHU Sainte-Justine and CHUM research centres, respectively. His research is supported by Fondation CHU Justine, Fondation des toiles, the Network of Applied Medical Genetics (RMGA), Fonds de recherche du Qubec Sant (FRQS) and the Canada Institutes of Health Research (CIHR). Dr. Florina Moldovan is a full professor in the Faculty of Dentistry -Department of Stomatology at the University of Montreal and a researcher at the CHU Sainte-Justine Research Centre. Dr. Pierre Drapeau is a full professor in the at the universitys Faculty of Medicine -Department of Neurosciences and a researcher at the CHUM Research Centre. The University of Montreal is officially known as Universit de Montral.
Links : Dr Moldovan at the University of Montreal - http://www.medent.umontreal.ca/fr/faculte/prof/florina.moldovan/index.htm
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Discovery of a Gene Responsible for Familial Scoliosis
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A STAR is born: Engineers devise genetic 'on' switch
All life processes depend on genes turning on and off. Cornell scientists have created a new on switch to control gene expression a breakthrough that could revolutionize genetic engineering.
Synthetic biologists led by Julius Lucks, assistant professor of chemical and biomolecular engineering, have created a new genetic control mechanism made exclusively of ribonucleic acids (RNA). They call their engineered RNAs STARS Small Transcription Activating RNAs described online in Nature Chemical Biology, Feb. 2.
Weve created a whole new toolset of regulation, said Lucks, who describes RNA as the most engineerable molecule on the planet.
RNA is a single-stranded version of its close cousin, DNA, which makes up the double-stranded genome of all living organisms. While DNA acts as natures hard drive, storing the genes that make up our genome, RNA is part of the cellular computer that activates the hard drive by helping the cell tune the expression of specific genes, Lucks says. While RNA is known to do this in many ways, one thing it cant do in nature is start the process by turning on, or activating, transcription the first step in gene expression, and the core of many cellular programs.
In the lab, Lucks and colleagues have assigned RNA this new role. Theyve engineered an RNA system that acts like a genetic switch, in which RNA tells the cell to activate the transcription of a specific gene. The STAR system involves placing a special RNA sequence upstream of a target gene that acts as a blockade and prevents the cell from transcribing that gene. When the STAR is present, it removes this blockade, turning on the downstream gene by allowing transcription to take place. The effect is like a lock-and-key system for turning genes on, with STARs acting as a set of genetic keys for unlocking cellular genetic programs.
RNA is like a molecular puzzle, a crazy Rubiks cube that has to be unlocked in order to do different things, Lucks said. Weve figured out how to design another RNA that unlocks part of that puzzle. The STAR is the key to that lock.
RNA is Lucks favorite molecule because its simple much simpler than a protein and its function can be engineered by designing its structure. In fact, new experimental and computational technologies, some developed by Lucks lab, are now giving quick access to their structures and functions, enabling a new era of biomolecular design that is much more difficult to do with proteins.
Lucks envisions RNA-only, LEGO-like genetic circuits that can act as cellular computers. RNA-engineered gene networks could also offer diagnostic capabilities, as similar RNA circuits have been shown to activate a gene only if, for example, a certain virus is present.
This is going to open up a whole set of possibilities for us, because RNA molecules make decisions and compute information really well, and they detect things really well, Lucks said.
The paper is called Creating Small Transcription Activating RNAs, and its co-authors are postdoctoral associate James Chappell and graduate student Melissa Takahashi. Supporters include the National Science Foundation, the Defense Advanced Research Projects Agency and the Office of Naval Research.
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A STAR is born: Engineers devise genetic 'on' switch
Recommendation and review posted by Bethany Smith
Engineers devise genetic 'on' switch made exclusively of RNA
19 hours ago
All life processes depend on genes turning on and off. Cornell University scientists have created a new "on" switch to control gene expression - a breakthrough that could revolutionize genetic engineering.
Synthetic biologists led by Julius Lucks, assistant professor of chemical and biomolecular engineering, have created a new genetic control mechanism made exclusively of ribonucleic acids (RNA). They call their engineered RNAs STARS - Small Transcription Activating RNAs - described online in Nature Chemical Biology, Feb. 2.
"We've created a whole new toolset of regulation," said Lucks, who describes RNA as "the most engineerable molecule on the planet."
RNA is a single-stranded version of its close cousin, DNA, which makes up the double-stranded genome of all living organisms. While DNA acts as nature's hard drive, storing the genes that make up our genome, RNA is part of the cellular computer that activates the hard drive by helping the cell tune the expression of specific genes, Lucks says. While RNA is known to do this in many ways, one thing it can't do in nature is start the process by turning on, or activating, transcription - the first step in gene expression, and the core of many cellular programs.
In the lab, Lucks and colleagues have assigned RNA this new role. They've engineered an RNA system that acts like a genetic switch, in which RNA tells the cell to activate the transcription of a specific gene. The STAR system involves placing a special RNA sequence upstream of a target gene that acts as a blockade and prevents the cell from transcribing that gene. When the STAR is present, it removes this blockade, turning on the downstream gene by allowing transcription to take place. The effect is like a lock-and-key system for turning genes on, with STARs acting as a set of genetic keys for unlocking cellular genetic programs.
"RNA is like a molecular puzzle, a crazy Rubik's cube that has to be unlocked in order to do different things," Lucks said. "We've figured out how to design another RNA that unlocks part of that puzzle. The STAR is the key to that lock."
RNA is Lucks' favorite molecule because it's simple - much simpler than a protein - and its function can be engineered by designing its structure. In fact, new experimental and computational technologies, some developed by Lucks' lab, are now giving quick access to their structures and functions, enabling a new era of biomolecular design that is much more difficult to do with proteins.
Lucks envisions RNA-only, LEGO-like genetic circuits that can act as cellular computers. RNA-engineered gene networks could also offer diagnostic capabilities, as similar RNA circuits have been shown to activate a gene only if, for example, a certain virus is present.
"This is going to open up a whole set of possibilities for us, because RNA molecules make decisions and compute information really well, and they detect things really well," Lucks said.
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Engineers devise genetic 'on' switch made exclusively of RNA
Recommendation and review posted by Bethany Smith
Obamas 'Precision Medicine' Database: How Safe And Private Is The Patient Data?
Scientific progress sometimes requires a leap of faith. And patients who volunteer their records to a national genomic database under President Obamas new initiative for precision medicine will be taking a big one.
In the young field of genomics, scientists are still drawing the ethical road map for open-ended exploration and realizing the privacy implications for what they might uncover. In the meantime, those who sign up for genomic studies are essentially along for the ride.
President Obama is asking Congress to embark down a new path in medicine to create treatments for diseases that have long stumped the scientific community. Obamas 2016 budget proposal grants $215 million to advance the field of precision medicine, an approach in which experts toss out their one-size-fits-all strategy to develop drugs or therapies that target the genetic makeup and lifestyle choices of each patient.
As part of the proposal, the Obama administration intends to give $130 million to the National Institutes of Health (NIH) to build a database of records that will include biological samples, test results, medical histories and genomic profiles of a million or more Americans. Theproject should present unprecedented opportunities for researchers but also a host of new challenges for an administration with a dicey record of data protection at HealthCare.gov and a history ofelectronic surveillance in the name of national security.
I think this is a bold initiative, says Michael Zimmer, an expert in Internet privacy issues at University of Wisconsin-Madison. What I'm hoping here is that, given the sensitivity of this data, they will engage with the right communities and do it in a transparent way.
Francis Collins, director of the NIH, has confirmed to International Business Times that many of the genomes included in the database will be gleaned from a network of 200 groups of scientists around the country who have enrolled, or are enrolling, at least 10,000 participants each for the studies. It should be possible to build the precision medicine initiative largely from existing studies, saving a great deal of time and money, he says.
Of course, amassing the data will only be half of the challenge; the federal government must also keep it safe. Holding a persons genomic and medical records is like having a window into their lifestyle, family history and possible future, and the risk is that such intimate information could be abused or misused if found in the wrong hands.
Some patient protections are already in place. The Common Rule, by which most federal agencies abide, prohibits research on human subjects without their consent except in special situations. The Privacy Rule of the Health Insurance Portability and Accountability Act also generally prohibits research on or the disclosure of information related to a patient's health without their consent among many universities and hospitals that may contribute to the nationwide study. And should this information ever leak out, Congress also passed the Genetic Information Nondiscrimination Act in 2008 to prevent insurers or employers from holding genetic findings against a person. Regardless, concerns still loom large in the minds of privacy advocates.
Pam Dixon, founder of a nonprofit concerned with privacy issues called the World Privacy Forum, argues that genomic data can be mishandled in ways that might impact an individuals family or children as well as themselves -- for instance, detecting an inheritable disease or predisposition for a late-onset illness. She thinks these concerns merit extra layers of protection. We cannot miss the mark on this one, she says.
The administration plans to grant $5 million to the Office of the National Coordinator for Health Information Technology for the sole purpose of ensuring data security. Zimmer takes this investment as a sign that the administration is making privacy a priority from the start.
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Obamas 'Precision Medicine' Database: How Safe And Private Is The Patient Data?
Recommendation and review posted by Bethany Smith
Sequencing genetic duplications could aid clinical interpretation
Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders. Still, geneticists can definitively say how a CNV, once discovered in someone's DNA, leads to one of these conditions in just a fraction of cases.
To aid in the interpretation of CNVs, researchers at Emory University School of Medicine have completed detailed maps of 184 duplications found in the genomes of individuals referred for genetic testing. The findings are scheduled for publication in the American Journal of Human Genetics.
"Ours is the first study to investigate a large cohort of clinically relevant duplications throughout the genome," says senior author Katie Rudd, PhD, assistant professor of human genetics at Emory University School of Medicine. "These new data could help geneticists explain CNV test results to referring doctors and parents, and also reveal mechanisms of how duplications form in the first place."
Despite advances in "next generation" DNA sequencing, the first step for patients who are referred to a clinical geneticist is currently a microarray. This is a scan using many probes across the genome, testing if someone's DNA has one, two, three or more copies of the DNA corresponding to the probe. (Two is the baseline.) From this scan, geneticists will have a ballpark estimate of where a deletion or duplication starts and ends, but won't know the breakpoints exactly.
"In a few years, advances in sequencing will make it possible to routinely capture data on copy number variation and breakpoints at the same time," Rudd says. "But for now, we have to do this extra step."
In addition, in comparison with deletions, duplications are more complicated. The extra DNA has to land somewhere, sometimes resulting in the disruption or warped regulation of nearby genes, which make it more difficult to pinpoint particular genes responsible for the individual's medical condition.
Most healthy people have a deletion or duplication of at least 100 kilobases in size. The individuals in the study were referred for clinical microarray testing with indications including intellectual disability, developmental delay, autism spectrum disorders, congenital anomalies, and dysmorphic features. Their CNVs were larger, with an average size of more than 500 kilobases. For reference, the entire haploid human genome, with about 19,000 genes, is about 3.3 million kilobases in size.
Rudd's team examined 184 duplications, and found that most are in tandem orientation and adjacent to the duplicated area. Most of the CNVs in the study were inherited from a parent. The researchers also found examples where a duplicated gene inserted into and disrupted another gene on a different chromosome.
In a few cases, a duplicated gene was fused together with another gene. This is a phenomenon often seen in cancer cells, where a DNA rearrangement leads to an abnormal activation of a growth- or survival-promoting gene. In these cases, the fusions were present in all cells in the body and not related to cancer, but could be responsible for the patient's condition.
"These fusion genes are intriguing but we don't know, just from looking at the DNA, if the gene is expressed," Rudd says. "These findings could be the starting point for follow-up investigation."
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Sequencing genetic duplications could aid clinical interpretation
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