Archive for the ‘Gene Therapy Research’ Category

gen 101
this is the first video in our study of genetics.

By: B Curtis

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gen 101 - Video

Washington, July 20 : A team of Harvard scientists has now uncovered evidence of genetic changes that might help protect some people from contracting cholera.

Based on genetic data gathered from hundreds of people in Bangladesh, a research team made up of Harvard faculty and scientists from the Broad Institute and Massachusetts General Hospital were able to a number of areas in the genome - some of which are responsible for certain immune system functions, while others are related to fluid loss - that appear to be related to cholera resistance.

Later tests showed genetic differences between people who had contracted the disease and those who had been exposed, but did not become ill.

"This study is exceptionally exciting for us because it shows the power of this approach," Associate Professor of Organismic and Evolutionary Biology Pardis Sabeti, one of two senior co-authors of the paper, said.

"This is the first time we've taken a genomic-wide approach to understanding cholera resistance. But it's a first step, and there is a lot of exploration to go from here. For a disease that's so ancient and widespread there's very little that's known about host immunity," the researcher said.

The hope, Sabeti added, is that by better understanding why some people appear to be immune, it will help in our efforts to develop vaccines and therapies, so outbreaks like those that occurred in recent years in Haiti and Africa might one-day be avoided. The study is published in the journal Science Translational Medicine.

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Genetics' key role behind cholera revealed

VISIONS 2013 - Llura Liggett Gund Award
http://www.FightBlindness.org/visions | Ed Gollob, Dr. Eric Pierce and Dr. Stephen Rose present the Foundation #39;s highest research award, the Llura Liggett Gund Awar...

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VISIONS 2013 - Llura Liggett Gund Award - Video

DUBLIN, July 18, 2013 /PRNewswire/ --

Research and Markets (http://www.researchandmarkets.com/research/qc7zk2/stem_cell_therapy) has announced the addition of the "Stem Cell Therapy Market in Asia-Pacific to 2018 - Commercialization Supported by Favorable Government Policies, Strong Pipeline and Increased Licensing Activity" report to their offering.

(Logo: http://photos.prnewswire.com/prnh/20130307/600769 )

Commercialization Supported by Favorable Government Policies, Strong Pipeline and Increased Licensing Activity

Stem Cell Research in Asia-Pacific a Growth Engine for Region's Scientific Ambitions

The stem cell therapy market in Asia-Pacific is poised to offer significant contributions in the future, thanks to renewed interest by the respective governments of India, China, Japan, South Korea and Singapore to provide cures for a range of diseases, states a new report by healthcare experts GBI Research.

Stem cells are unique body cells that possess the ability to divide and differentiate into diverse cell types, and can be used to produce more stem cells. The use of adult stem cells has been successfully employed to treat bone and blood related disorders such as leukemia, through bone marrow transplants. Stem cell therapy is used to repair and regenerate the damaged tissue, though the actual mechanism of action is largely unknown.

The growth in the stem cell therapy market will not only provide treatment options but will also contribute significantly to the countries' Gross Domestic Product (GDP), with the President of South Korea only last year referring to stem cell research as a new growth engine for the nation's economy. In order to support the stem cell industry, regulatory guidelines in Asia-Pacific countries allow stem cell research, and this has led to its commercialization. India and South Korea are the leaders in the commercialization of stem cell therapy, with approved products for Acute Myocardial Infarction (AMI), osteoarthritis and anal fistula in Crohn's disease, amongst others. The countries allow the use of human embryonic stem cells and provide adequate funding support for the research.

Stem cell therapy is an emerging field, and a large amount of research is currently being carried out by institutions such as hospitals, universities and medical colleges. According to GBI Research's analysis of the stem cell therapy research in Asia-Pacific, 63% of pipeline molecules were being researched by academia. The emergence of institutional research has boosted stem cell discoveries, as companies can be put off conducting research due to uncertain therapeutic outcomes. China and Japan witness only a negligible industry presence in stem cell research, as academic institutions dominate - however in contrast, India has the presence of both industry and academia. The major institutions engaged in stem cell research in India are LV Prasad Eye Institute (LYPEI) for Limbal Stem Cell Technology (LSCT), and the Post Graduate Institute of Medical Education and Research (PGIMER) for stem cell therapy for type 2 diabetes mellitus.

The market is poised for significant growth in the future, due to the anticipated launch of JCR Pharmaceuticals' JR-031 in Japan in 2014, and FCB Pharmicell's Cerecellgram (CCG) in South Korea in 2015. GBI Research therefore predicts that the stem cell therapy market will grow in value from $545m in 2012 to $972m in 2018, at a Compound Annual Growth Rate (CAGR) of 10%.

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Stem Cell Therapy Market in Asia-Pacific to 2018

Public release date: 18-Jul-2013 [ | E-mail | Share ]

Contact: Cyndi Lepore 617-919-3110 Boston Children's Hospital

Boston, Mass., July 18, 2013 - Researchers at Boston Children's Hospital have identified a genetic cause of severe obesity that, though rare, raises new questions about weight gain and energy use in the general obese population. The research, published in the journal Science on July 19, involved genetic surveys of several groups of obese humans and experiments in mice.

Mice with the genetic mutation gained weight even while eating the same amount of food as their normal counterparts; the affected gene, Mrap2, has a human counterpart (MRAP2) and appears to be involved in regulating metabolism and food consumption.

"These mice aren't burning the fat, they're somehow holding onto it," says the study's lead investigator Joseph Majzoub, MD, chief of endocrinology at Boston Children's. "Mice with the genetic mutation gained more weight, and we found similar mutations in a cohort of obese humans."

The protein created by the Mrap2 gene appears to facilitate signaling to a receptor in the brain called Mc4r, which helps increase metabolism and decrease appetite as part of a larger signaling chain involved in energy regulation. Fat cells produce the hormone leptin, prompting receptors in the brain to instigate production of a second hormone, MSH. Mc4r detects this hormone with the aid of Mrap2, leading to a decrease in appetite and weight. Mutations in this signaling chain, including mutations in Mc4r, are known to increase the likelihood of obesity.

Majzoub, first author Masato Asai, MD, PhD, now at Nagoya University in Japan, and colleagues studied mice with the Mrap2 gene knocked out both overall and just in the brain. In both cases, the mice grew to about twice their normal size. Weight gain was greatest when both copies of Mrap2 were knocked out, but the mice still showed weight gain and appetite increase with one working copy of the gene. The weight gain was more pronounced in males than females. In addition, the mice without Mrap2 had more exaggerated weight gain when fed a high-fat diet than normal mice.

Surprisingly, while the mice without Mrap2 didn't eat more at first, they still gained weight faster than the controls. Later, their appetites increased and they continued to gain more weight than the controls, even when held to the same diet and quantity of food. In the end, the mutant mice had to be underfed by 10 to 15 percent to show the same weight gain as their normal peers. As soon as they were let off the restricted diet, their weight gain increased.

To investigate the gene in humans, Majzoub collaborated with Sadaf Farooqi, MD, PhD, of the University of Cambridge, and others to investigate groups of obese patients from around the world. The team found four mutations in the human equivalent of Mrap2 among the 500 people, all in patients with severe, early-onset obesity; each of the four affected patients had only one copy of the mutation.

While the finding suggests that these rare mutations directly cause obesity in less than 1 percent of the obese population, the researchers suspect that other mutations in the gene might occur more commonly and might interact with other mutations and environmental factors to cause more common forms of obesity. "We found other mutations that weren't as clearly damaging to the gene," notes Majzoub. "It's possible that some of these more common mutations actually are pathogenic, especially in combination with other genes in the same pathway."

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Gene mutation linked to obesity

Public release date: 19-Jul-2013 [ | E-mail | Share ]

Contact: Caroline Marin crmarin@umn.edu 612-624-5680 University of Minnesota Academic Health Center

MINNEAPOLIS/ST. PAUL (July 19, 2013) Researchers at the University of Minnesota have identified infection-fighting and inflammation-suppressing functions for a gene associated with human autoimmune disease.

The discovery, centered on a gene known as PTPN22, could set into motion new treatment approaches for autoimmune diseases like lupus, rheumatoid arthritis and type 1 diabetes. The key to these advances may lie with a better understanding of how a variant of PTPN22, known as a "risk variant," impacts autoimmune disease development and the behavior of myeloid cells that act as the body's "first responders."

The study appears in the journal Immunity.

In launching their latest research project, University of Minnesota Center for Immunology researchers set out to determine how PTPN22 could regulate immune system function in health and disease.

"Almost a decade ago, researchers at the University of Minnesota and other institutions discovered that people carrying a variant form of the PTPN22 gene bear an increased risk of becoming sick with certain autoimmune diseases. However, we have lacked a deep understanding how the variant creates that increased risk," said Erik J. Peterson, M.D., one of the study's lead authors and a University of Minnesota Medical School associate professor in the Division of Rheumatic and Autoimmune Diseases. "We wanted to understand the molecular basis for PTPN22 association with disease."

Much of the work carried out in the latest study took place in Peterson's laboratory, which utilizes genetic, biochemical, and primary human sample-based approaches to investigate how "risk" genes predispose to development of autoimmune disease.

According to the study's authors, previous research showed that PTPN22 works in immune cells, but few studies had specifically examined PTPN22's function in infection-fighting cells called myeloid cells.

"Myeloid cells are among the body's 'first responders' to a challenge with a virus or bacterium," said Yaya Wang, Ph.D., one of the study's co-first authors and a research associate in the Center for Immunology. "Upon recognizing the presence of an infection, myeloid cells produce chemicals that increase inflammation and help fight the invading microbe. We were intrigued by the idea that PTPN22 and its disease-associated variant might have a role in myeloid cell functions."

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U of M researchers identify new functions for autoimmune disease 'risk' gene

July 19, 2013 Researchers at the University of Minnesota have identified infection-fighting and inflammation-suppressing functions for a gene associated with human autoimmune disease.

The discovery, centered on a gene known as PTPN22, could set into motion new treatment approaches for autoimmune diseases like lupus, rheumatoid arthritis and type 1 diabetes. The key to these advances may lie with a better understanding of how a variant of PTPN22, known as a "risk variant," impacts autoimmune disease development and the behavior of myeloid cells that act as the body's "first responders."

The study appears in the journal Immunity.

In launching their latest research project, University of Minnesota Center for Immunology researchers set out to determine how PTPN22 could regulate immune system function in health and disease.

"Almost a decade ago, researchers at the University of Minnesota and other institutions discovered that people carrying a variant form of the PTPN22 gene bear an increased risk of becoming sick with certain autoimmune diseases. However, we have lacked a deep understanding how the variant creates that increased risk," said Erik J. Peterson, M.D., one of the study's lead authors and a University of Minnesota Medical School associate professor in the Division of Rheumatic and Autoimmune Diseases. "We wanted to understand the molecular basis for PTPN22 association with disease."

Much of the work carried out in the latest study took place in Peterson's laboratory, which utilizes genetic, biochemical, and primary human sample-based approaches to investigate how "risk" genes predispose to development of autoimmune disease.

According to the study's authors, previous research showed that PTPN22 works in immune cells, but few studies had specifically examined PTPN22's function in infection-fighting cells called myeloid cells.

"Myeloid cells are among the body's 'first responders' to a challenge with a virus or bacterium," said Yaya Wang, Ph.D., one of the study's co-first authors and a research associate in the Center for Immunology. "Upon recognizing the presence of an infection, myeloid cells produce chemicals that increase inflammation and help fight the invading microbe. We were intrigued by the idea that PTPN22 and its disease-associated variant might have a role in myeloid cell functions."

Researchers found that both mouse and human myeloid cells carrying the PTPN22 "risk" variant show decreased production of molecules called type 1 Interferons. Type 1 Interferons are needed to boost immune responses to viruses and other infections. In mice lacking the PTPN22 gene, reduced type 1 Interferon production correlates with an impaired ability to fight infections.

But the PTPN22 gene does more than simply fight infection, the study showed.

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New functions for autoimmune disease 'risk' gene identified

Medically, obesity is now considered a disease. Socially, the condition is regarded differently. In the latter realm, being extremely overweight can seem like a symptom of laziness or lack of willpower.

Research into the genetics of obesity, however, is revealing that judgment may be unfair. Researchers at Boston Childrens Hospital have discovered a gene that, when deleted, causes extreme obesity in mice. Although an initial survey showed that disease-causing mutations in the gene are quite rare in people, scientists think that less severe mutations in this and other rare genes associated with obesity may cause subtle differences in energy regulation and metabolism. Those differences may cause some people to be predisposed to weight gain.

In an unusual twist, the mice in the study published Thursday in the journal Science didnt gain weight simply because they ate more. Rodents lacking the gene must be fed about 15 percent less than normal mice to have the same amount of weight gain.

The mice we have made that are obese, while theyre children and adolescents and in that phase, theyre getting very obese, but not eating more than brothers and sisters, said Dr. Joseph Majzoub, chief of endocrinology at Childrens Hospital. Its quite different from other types of obesity.

Dr. Michael Schwartz, director of the Diabetes and Obesity Center of Excellence at the University of Washington, said that the new study was a valuable addition to the growing knowledge about the genetic underpinnings of obesity. Schwartz, who was not involved in the work, said that in addition to genes that cause severe obesity, there are genes that protect against gaining weight. The genetic predisposition to gain weight was probably influenced not only by genes that make people gain weight, he said, but in flaws in those that protect against gaining weight.

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New gene associated with severe obesity

Public release date: 18-Jul-2013 [ | E-mail | Share ]

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

New Rochelle, NY, July 18, 2013Mary Ann Liebert, Inc., publishers (http://www.liebertpub.com) has introduced a preview issue of Soft Robotics (SoRo), a new peer-reviewed journal dedicated to the science and engineering of soft materials in mobile machines. The scope and contents of the Journal capture the innovative research on robotic technology that is enabling robots to interact safely with living systems and to function in complex natural or human-built environments. Soft Robotics will be available online with Open Access options and in print. The articles in the preview issue are available free on the Soft Robotics website (http://www.liebertpub.com/soro)

The insightful Roundtable Discussion included in the preview issue, "At the Crossroads: Interdisciplinary Paths to Soft Robots," brings together experts in the many diverse fields needed for the successful development, integration, and application of this complex technology. The panelists discuss the challenges, opportunities, state-of-the-field, and future promise of soft robotics.

Participants in the Roundtable, who also contributed review articles to the preview issue, included Randy Ewoldt, University of Illinois at Urbana-Champaign ("Extremely Soft: Design with Rheologically-Complex Fluids"), Mirko Kova, Imperial College London, UK ("The Bioinspiration Design Paradigm: A Perspective for Soft Robotics"), Hod Lipson, Cornell University, Ithaca, NY ("Challenges and Opportunities for Design, Simulation, and Fabrication of Robots"), Nanshu Lu, University of Texas at Austin ("Flexible and Stretchable Electronics Paving the Way for Soft Robotics"), Mohsen Shahinpoor, University of Maine, Orono ("A Review of Ionic Polymeric Soft Actuators and Sensors"), and Carmel Majidi, Carnegie Mellon University, Pittsburgh, PA ("Soft RoboticsA Perspective: Current Trends and Prospects for the Future").

The preview issue also includes the original research article "A Hybrid Combining Hard and Soft Robots" by A.A. Stokes et al., University of Edinburgh.

"The next frontier in robotics is to make machines that can assist us in everyday activities, at home, in the office, in hospitals, and even in natural environments," says Editor-in-Chief Barry A. Trimmer, PhD, Henry Bromfield Pearson Professor of Natural Sciences and Director, Neuromechanics and Biomimetic Devices Laboratory, Tufts University, Medford, MA. "Soft Robotics provides a forum, for the first time, for scientists and engineers across diverse fields to work together to build the next generation of interactive robots. This journal provides biologists, engineers, materials specialists, and computer scientists a common meeting place, and we are very excited about this new forum."

###

About the Journal

Soft Robotics (SoRo), a new peer-reviewed journal published quarterly online with Open Access options and in print, combines advances in biomedical engineering, biomechanics, mathematical modeling, biopolymer chemistry, computer science, and tissue engineering to present new approaches to the creation of robotic technology and devices that can undergo dramatic changes in shape and size in order to adapt to various environments. Led by Editor-in-Chief Barry A. Trimmer, PhD and a distinguished team of Associate Editors, the Journal provides the latest research and developments on topics such as soft material creation, characterization, and modeling; flexible and degradable electronics; soft actuators and sensors; control and simulation of highly deformable structures; biomechanics and control of soft animals and tissues; biohybrid devices and living machines; and design and fabrication of conformable machines. Complete information is available on the SoRo website (http://www.liebertpub.com/soro).

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Soft Robotics -- preview issue of groundbreaking journal on engineered soft devices that interact with living systems

Topics: editors picks, laughter, maryborough, medicine, rieters disease

DANIEL Gassman was diagnosed with the rare, incurable genetic disorder Rieters syndrome but he believes the best medicine for him is laughter.

The gene is triggered by a viral infection and Daniel said he believed the disease kicked in after enduring a four-month stint with the flu in 2000.

"I would bump myself and the pain would last two or more weeks and then my vision started to blur," Daniel said.

"For two-and-a-half years I went from doctor to doctor trying to find out what was going on.

"My current GP is absolutely brilliant - he did a few tests and sent me to a specialist.

"I visited Professor Nash in Maroochydore - he asked me a couple of questions, got me to walk and said I know what you've got, I just have to do a blood test to prove it."

The 37-year-old said he was diagnosed with Reiters disease - a roaming rheumatoid arthritis.

"I can wake up one morning and my knees aren't working and the next morning my knees are fine and then my hands aren't working," he said.

"There could be days were I was scared to shake people's hands because the amount of pain - I couldn't clench a fist.

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Laughter the best medicine for incurable disorder

Public release date: 19-Jul-2013 [ | E-mail | Share ]

Contact: Peter Reuell preuell@fas.harvard.edu 617-496-8070 Harvard University

Researchers have long understood that genetics can play a role in how susceptible people are to contracting cholera, but a team of Harvard scientists is now uncovering evidence of genetic changes that might also help protect some people from contracting the deadly disease.

Based on genetic data gathered from hundreds of people in Bangladesh, a research team made up of Harvard faculty and scientists from the Broad Institute and Massachusetts General Hospital were able to a number of areas in the genome some of which are responsible for certain immune system functions, while others are related to fluid loss that appear to be related to cholera resistance. Later tests showed genetic differences between people who had contracted the disease and those who had been exposed, but did not become ill. Their results are described in a paper published earlier this month in Science Translational Medicine.

"This study is exceptionally exciting for us because it shows the power of this approach," said Associate Professor of Organismic and Evolutionary Biology Pardis Sabeti, one of two senior co-authors of the paper. "This is the first time we've taken a genomic-wide approach to understanding cholera resistance. But it's a first step, and there is a lot of exploration to go from here. For a disease that's so ancient and widespread there's very little that's known about host immunity."

The hope, Sabeti added, is that by better understanding why some people appear to be immune, it will help in our efforts to develop vaccines and therapies, so outbreaks like those that occurred in recent years in Haiti and Africa might one-day be avoided.

"It is a very scary disease," she said. "We now have treatments with oral rehydration therapy, but it is still devastating, and in extreme cases, cholera can kill in hours."

"We also haven't been able to develop a particularly effective vaccine," added Elinor Karlsson, a Post-Doctoral Fellow in Organismic and Evolutionary Biology, the first author of the paper. "The vaccine that's available wears off after a few years, whereas people who are exposed to the disease develop a long-lasting immunityand nobody is quite sure why that is. This research is another way of tackling that problem, and it's a way no one has come at it before."

To understand the genetic differences between those with and without resistance, researchers first gathered genetic data on 42 family groups called "trios" that included a mother, father and child. Using that data, researchers identified more than 300 areas of the genome that appeared to be under pressure due to natural selection, suggesting that genes in those regions might be adapting to deal with the threat of cholera.

"We found 305 areas or about two percent of the genome that appeared to be under selection," Karlsson said. "That's great, but unfortunately, all our tests can tell us is that a region is under selection, it doesn't tell us why."

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The genetic key to conquering cholera

July 19, 2013 Researchers have long understood that genetics can play a role in how susceptible people are to contracting cholera, but a team of Harvard scientists is now uncovering evidence of genetic changes that might also help protect some people from contracting the deadly disease.

Based on genetic data gathered from hundreds of people in Bangladesh, a research team made up of Harvard faculty and scientists from the Broad Institute and Massachusetts General Hospital were able to a number of areas in the genome -- some of which are responsible for certain immune system functions, while others are related to fluid loss -- that appear to be related to cholera resistance. Later tests showed genetic differences between people who had contracted the disease and those who had been exposed, but did not become ill. Their results are described in a paper published earlier this month in Science Translational Medicine.

"This study is exceptionally exciting for us because it shows the power of this approach," said Associate Professor of Organismic and Evolutionary Biology Pardis Sabeti, one of two senior co-authors of the paper. "This is the first time we've taken a genomic-wide approach to understanding cholera resistance. But it's a first step, and there is a lot of exploration to go from here. For a disease that's so ancient and widespread there's very little that's known about host immunity."

The hope, Sabeti added, is that by better understanding why some people appear to be immune, it will help in our efforts to develop vaccines and therapies, so outbreaks like those that occurred in recent years in Haiti and Africa might one-day be avoided.

"It is a very scary disease," she said. "We now have treatments with oral rehydration therapy, but it is still devastating, and in extreme cases, cholera can kill in hours."

"We also haven't been able to develop a particularly effective vaccine," added Elinor Karlsson, a Post-Doctoral Fellow in Organismic and Evolutionary Biology, the first author of the paper. "The vaccine that's available wears off after a few years, whereas people who are exposed to the disease develop a long-lasting immunityand nobody is quite sure why that is. This research is another way of tackling that problem, and it's a way no one has come at it before."

To understand the genetic differences between those with and without resistance, researchers first gathered genetic data on 42 family groups -- called "trios" -- that included a mother, father and child. Using that data, researchers identified more than 300 areas of the genome that appeared to be under pressure due to natural selection, suggesting that genes in those regions might be adapting to deal with the threat of cholera.

"We found 305 areas -- or about two percent of the genome -- that appeared to be under selection," Karlsson said. "That's great, but unfortunately, all our tests can tell us is that a region is under selection, it doesn't tell us why."

To find those answers, Karlsson turned to a process called "gene set enrichment" testing to determine whether any particular groups of genes showed up in those regions more often than others.

"We found two strong patterns," Karlsson said. "We found a whole set of genes that are related to a gene called IKBKG, which plays a key role in immunity. But what we found was not the gene itself, but a whole group of genes that regulate IKBKG. We also found a whole set of genes for potassium channels, which are the channels in the walls of our cells that regulate fluid loss.

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Genetic key to conquering cholera

Meditation for Rewiring the Brain and Genetics
Meditation can rewire the brain and it can change our genetics Watch and Find Out More.

By: Paul Haider

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Meditation for Rewiring the Brain and Genetics - Video

Update on og kush , dna genetics kush dream
On this one running og kush , dna genetics kush dream and chem dog from progressive options.

By: jm9300

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Update on og kush , dna genetics kush dream - Video

MVRF-Macular Degeneration: Vitamin Supplements and Genetics
Dr. Emily Chew gives a lecture about vitamin supplements and genetics, and how they relate to Macular Degeneration at the Macula Vision Research Foundation #39;s...

By: MVRFoundation

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MVRF-Macular Degeneration: Vitamin Supplements and Genetics - Video

Teaming Up: Imaging and Genetics
Dr. Paul Thompson discusses the possibilities of combining the latest brain imaging technology with the study of genetics. For more information visit: http:/...

By: NIBIBTV

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Teaming Up: Imaging and Genetics - Video

A prominent technology columnist got science journalists into a tizzy last week when she proclaimed that she was a creationist. She probably didnt really mean it, but the next time someone expresses doubt over basic, empirically validated facts of how living things evolve, point them toward a portrait collection called "Genetics Are Awesome"-- it could help you show them the light.

Genetics Are Awesome isnt an educational visualization like the Punnett squares you used to learn about genetic inheritance in high school. Instead, photographer Ulric Collette simply took portraits of two people who are directly related--say, a father and a daughter or pair of twins--and placed them in a split-screen combination. This basic juxtaposition dramatically visualizes the power that genes--just tiny coiled bits of nucleic acids--exert over the design of an entire organism. Sure, its no great epiphany that a baby girl has mommys eyes and daddys chin. But something about these split-screen combinations breaks out of the humdrum abstraction of heritability and snaps your awareness toward the, yes, awesomeness (in the cosmic sense, not the Lolcat-GIF sense) of this basic fact of life.

Some of the resemblances between parents and offspring are so striking that the photos look like they have leaped into the future (or past) of one persons life. But the differences are even more intriguing: Its like seeing jump cuts in genetic code come to life. Its enough to make me hope that Collette might do a more longitudinal follow-up project, perhaps with an interactive element, that could let me slide one half of each portrait forward or backward in "generations" (say, from a teenager all the way to her great grandparent), and literally visualize the genetic variation over more than just one "cut." But even as it stands, Genetics Are Awesome is a great piece of science-communication design--not because it didactically teaches you anything but because it reaches into you and makes you want to learn more.

[See Ulrich Collettes photos here]

John Pavlus is a writer and filmmaker focusing on science, tech, and design topics. His writing has appeared in Wired, New York, Scientific American, ... Continued

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Uncanny Portraits Visualize The Power of Genetics

Public release date: 17-Jul-2013 [ | E-mail | Share ]

Contact: Matthew Levine mlevine@rpbusa.org 212-752-4333 Research to Prevent Blindness

New York, NY, July 17, 2013 -- Research to Prevent Blindness (RPB), the world's leading voluntary health organization supporting eye research, has awarded 43 grants totaling $5,308,000 for research into the causes, treatment, and prevention of all blinding diseases. RPB will award additional grants in December.

The latest RPB awards were conveyed to 28 leading medical institutions. They include unrestricted grants to departments of ophthalmology at 24 medical schools and 17 awards to individual scientists, including Career Development Awards, Physician Scientist Awards, Special Scholar Awards, a Walt and Lilly Disney Award for Amblyopia Research, Medical Student Eye Research Fellowships, an International Research Scholar Award, and a special grant to the Association of University Professors of Ophthalmology. They also include a prestigious, one-time laboratory grant of $600,000 to the Department of Ophthalmology at the University of Florida, College of Medicine, to be named the RPB Mildred Krahmer Sanders and William Clifford Sanders Laboratory for Vision Research Laboratory.

"RPB has an outstanding track record of funding excellence in vision research," said RPB's new President, Brian F. Hofland, PhD. "We expect the recipients of these grants to build on that tradition by making significant contributions to the body of knowledge on eye diseases and developing new treatments for vision disorders."

RPB grants are highly flexible, allowing researchers to pursue new discoveries mid- project. The organization places a premium on innovation in awarding these grants which, this year, include investigations into: the pharmacological manipulation of microorganisms that live in the digestive tract and affect ocular inflammation via the immune system; a single-dose gene therapy for age-related macular degeneration using a virus that expresses therapeutic molecules at levels sufficient for long-term treatment; and the action mechanism of DHA (a fatty acid with neuroprotective properties) in the retina along with possible recommendations for its safe use in specific eye diseases.

Across the nation, RPB-supported laboratories investigate the entire spectrum of eye disease from cataracts, glaucoma, and diabetic retinopathy to macular degeneration, retinitis pigmentosa and eye movement disorders. Among the vision scientists fighting these diseases are five active Jules and Doris Stein RPB Professors who receive up to $1.025 million each over seven years (including a possible two-year extension and a matching grant for laboratory construction).

Since it was founded in 1960, RPB has channeled more than $310 million into eye research. As a result, RPB has been identified with nearly every major breakthrough in vision research in that time, including the development of laser surgery now used to treat diabetic retinopathy, glaucoma, macular degeneration, myopia, retinal detachment and astigmatism.

RPB currently supports a comprehensive grants program at 56 medical institutions throughout the United States. RPB grants nurture vibrant vision-research environments, further the careers of vision scientists and advance the development of thought leaders in the vision research field.

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Original post:
Research to Prevent Blindness awards $5.3 million in grants to support eye research

Early-stage research could eventually lead to gene therapy

By Tina Hesman Saey

Web edition: July 17, 2013

Borrowing a trick from nature, researchers have switched off the extra chromosome that causes Down syndrome in cells taken from patients with the condition.

Though not a cure, the technique, reported July 17 in Nature, has already produced insights into the disorder. In the long run it might even make the flaw that causes Down syndrome correctible through gene therapy.

Gene therapy is now on the horizon, says Elizabeth Fisher, a molecular geneticist at University College London. But that horizon is very far away.

Down syndrome, also called trisomy 21, occurs when people inherit three copies of chromosome 21 instead of the usual two. It is the most common chromosomal condition, affecting around one in every 700 babies born in the United States. People with the disorder typically have both physical and cognitive complications of having an extra chromosome.

Down syndrome has been one of those disorders where people say, Oh, theres nothing you can do about it, says Jeanne Lawrence, a chromosome biologist and genetic counselor at the University of Massachusetts Medical School in Worcester, who led the study with colleague Lisa Hall.

The researchers decided to see whether they could shut down the extra chromosome by drawing on a biological process called X inactivation. Women have two X chromosomes and men have only one X and a Y. To halve the amount of X chromosome products, female cells shut down one copy. Cells do that using a chunk of RNA called XIST, which is made by one X chromosome but not the other. The RNA works by pulling in proteins that essentially board up the chromosome like an abandoned building. The other X stays on by making a different RNA.

Lawrence and Hall thought that if they put XIST on another chromosome, it might shut that one down too. So the researchers put the gene for XIST onto one of the three copies of chromosome 21 carried by stem cells grown from a man with Down syndrome. That copy of the chromosome got switched off.

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Technique inactivates Down-causing chromosome

Sangamo BioSciences, Inc. (PRNewsFoto/Sangamo BioSciences, Inc.)

RICHMOND, Calif., July 17, 2013 /PRNewswire/ --Sangamo BioSciences, Inc. (Nasdaq: SGMO) announced today the publication of groundbreaking research using zinc finger DNA-binding protein (ZFP) technology to insert a gene that permanently "silences" the extra copy of chromosome 21, which is the root cause of Down syndrome (DS). This advance, accomplished in induced pluripotent stem cells (iPSCs) derived from DS patients, provides a model to study the basic biology of DS which may enable the development of drugs that can potentially rebalance the cellular processes and pathologies that are impacted by this disorder.

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The work was led by the laboratory of Jeanne Lawrence, Ph.D., interim chair and professor of cell & developmental biology at the University of Massachusetts Medical School, in collaboration with Sangamo scientists and was published as an Advance Online Publication in Nature http://dx.doi.org/10.1038/nature12394.

"Until now our ability to correct cells carrying a chromosomal abnormality, by specifically silencing, or shutting down, expression of essentially all genes across a chromosome of our choosing was outside the realm of possibility," said Dr. Lawrence."However, this goal has been realized by using ZFNs to introduce, into a defined site in chromosome 21, a copy of a gene that normally functions to shut down the extra copy of the X chromosome in females.This provides a means to understand the cellular pathologies of DS, important for development of therapeutics, and also provides a needed model to study human chromosome inactivation."

Down syndrome, or Trisomy 21, is a genetic condition in which a person has a third copy of chromosome 21 giving them a total of forty-seven chromosomes instead of the usual forty-six. DS is the leading genetic cause of intellectual disabilities. Individuals with DS also have a higher risk for many conditions, including congenital heart defects, hematopoietic disorders, and early-onset Alzheimer's disease.

"The data further demonstrate the potential of ZFN-mediated genome editing to achieve unique biological outcomes which may have significant medical and therapeutic value," stated Philip Gregory, D. Phil., Sangamo's vice president, research and chief scientific officer. "In these studies, Sangamo's ZFN technology was used to insert a 17Kb DNA sequence containing a copy of the XIST gene into a pre-defined location in a particular chromosome. This is a substantially larger DNA sequence than is commonly used for genome editing and demonstrates the precision and efficiency of the ZFN-mediated process."

The paper entitled "Translating Dosage Compensation to Trisomy 21" described the highly specific and efficient ZFN-mediated insertion of copy of a large gene called XIST, into chromosome 21 in cultured iPSCs derived from DS patients. XIST encodes an RNA which normally functions in early development to shut down one of the two X chromosomes present in females, a process called dosage compensation. The XIST gene product functions by coating the chromosome from which it is expressed resulting in the silencing of the majority of the genes on that chromosome. In the study described by Jiang et al. in Nature, the silencing was observed on the extra, or third, copy of chromosome 21 in cells modified using the ZFNs. By comparing unmodified cells with cells in which the extra chromosome had been silenced by ZFN-mediate XIST addition, the authors showed that XIST helps correct defects in cell growth and neural differentiation found in DS-derived cells. The strategy can be used to help define the cellular and molecular changes underpinning DS and other trisomy disorders, as well as provide a model to study human chromosome inactivation.

About Sangamo

Sangamo BioSciences, Inc. is focused on research and development of novel DNA-binding proteins for therapeutic gene regulation and genome editing. The Company has ongoing Phase 2 and Phase 1 /2 clinical trials to evaluate the safety and efficacy of a novel ZFP Therapeutic for the treatment of HIV/AIDS. Sangamo's other therapeutic programs are focused on monogenic diseases, including hemophilia, Huntington's disease and hemoglobinopathies such as beta-thalassemia and sickle cell anemia. Sangamo's core competencies enable the engineering of a class of DNA-binding proteins known as zinc finger DNA-binding proteins (ZFPs). Engineering of ZFPs that recognize a specific DNA sequence enables the creation of sequence-specific ZFP Nucleases (ZFNs) for gene modification and ZFP transcription factors (ZFP TFs) that can control gene expression and, consequently, cell function. Sangamo has entered into a strategic collaboration with Shire AG to develop therapeutics for hemophilia, Huntington's disease and other monogenic diseases and has established strategic partnerships with companies in non-therapeutic applications of its technology including Dow AgroSciences and Sigma-Aldrich Corporation. For more information about Sangamo, visit the company's website at http://www.sangamo.com.

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Sangamo BioSciences Announces Publication of First Demonstration of Inactivation of Extra Chromosome Responsible for ...

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Public release date: 17-Jul-2013 [ | E-mail | Share ]

Contact: Karin Eskenazi cumcnews@columbia.edu 212-305-3900 Columbia University Medical Center

NEW YORK, NY (July 17, 2013) Researchers at Columbia University Medical Center (CUMC) and collaborators have identified a genetic mutation that causes congenital malformations of the kidney and urinary tract, a common form of birth defect and the most common cause of kidney failure in children. It is the first time that a specific genetic mutation has been linked to a non-syndromic form of urinary tract malformation. The findings were published in the July 17 online issue of the New England Journal of Medicine.

The research team, led by Ali Gharavi, MD, associate professor of medicine in the Division of Nephrology and a nephrologist at NewYork-Presbyterian Hospital/Columbia University Medical Center, studied a Sardinian family with congenital malformations of the kidney and urinary tract. Several family members had experienced kidney failure at a young age. Using the recently developed tool of exome gene sequencing (sequencing of only the coding parts of the genome), the researchers identified a mutation in a gene called dual serine/threonine and tyrosine protein kinase (DSTYK) in all of the affected family members.

The researchers then screened 311 unrelated individuals with urinary tract defects from centers throughout Europe and found seven other patients with DSTYK mutations. "These findings indicate that DSTYK mutations account for 2.2 percent of urinary tract defects in humans, which is very significant as a single-gene cause of this disease," says Dr. Simone Sanna-Cherchi, the first author of the study.

Some cases of congenital urinary tract defects present with kidney failure at birth, while others are not evident until complications arise, sometimes not until years later. By defining a new form of disease, these findings will allow clinicians to make a precise molecular diagnosis and identify mutation carriers who may be at risk for complications.

"Exome gene sequencing is now the method of choice for diagnosis of congenital disorders of unknown cause," says Dr. Gharavi. "It is what enabled us to detect the mutation that was shared by all affected individuals in the Sardinian family."

Drs. Sanna-Cherchi, Gharavi, and colleagues now plan to use the exome genome sequencing approach to study other patients and define additional forms of congenital urinary tract defects. "By defining new disease categories, we can study each genetic subtype in detail and determine why there is so much variability in the clinical course and complications of these disorders. We will be better able to advise patients on the risk of complications in family members and future offspring," says Dr. Sanna-Cherchi.

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The paper, titled "Mutations in DSTYK and Dominant Urinary Tract Malformations," is the result of an international collaboration of Columbia University Medical Center and 32 other institutions, including the Giannina Gaslini Institute, Genoa, Italy; the Hospital of Montichiari, Montichiari, Italy; the University of Parma, Parma, Italy; the University of Foggia, Foggia, Italy; the University of Split, Split, Croatia; Yale University School of Medicine, New Haven, Conn.; and Harvard Medical School, Boston, Mass.

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Mutation linked to congenital urinary tract defects

Experts found that even smokers who underwent rigorous medical tests that came back normal had dangerous changes in their DNA The genes found are usually limited to developing embyros and can predispose a person to the most aggressive types of lung cancer

By Rachel Reilly

PUBLISHED: 05:33 EST, 17 July 2013 | UPDATED: 03:22 EST, 18 July 2013

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Experts found that even smokers who look healthy are undergoing dangerous changes at a genetic level

Even healthy-looking smokers have early cell damage which could lead to cancer, say experts.

A study has shown that even if X-rays and other health test results are normal, airway cells in smokers show early damage by having activated genes seen in aggressive lung cancer.

Experts found that in the cells lining the airways of the smokers' lungs, human embryonic stem cell genes associated with cancer had been turned on.

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Even healthy-looking smokers have 'cell damage at a genetic level which could lead to lung cancer'

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