Archive for the ‘Gene Therapy Research’ Category

IV International Symposium of Genetics and Breeding - 5/7
Session: Genomic selection for beef cattle Dr Matt Kelly - University of Queensland.

By: GenMelhor UFV

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IV International Symposium of Genetics and Breeding - 5/7 - Video

What Makes Us Who We Are? The Promise (and Perils) of Behavioral Genetics
Sponsored by the Poynter Fellowship in Journalism and Franke Program in Science and the Humanities. Why are some of us happier than othersor sadder, tougher...

By: YaleUniversity

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What Makes Us Who We Are? The Promise (and Perils) of Behavioral Genetics - Video

GENE THERAPY PROF WAGIH P3

By: Asmaa Alhazmi

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GENE THERAPY PROF WAGIH P3 - Video

GENE THERAPY PROF WAGIH P2

By: Asmaa Alhazmi

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GENE THERAPY PROF WAGIH P2 - Video

Dec. 17, 2013 A systematic survey of the scientific literature shows that stem cell therapy can have a statistically significant impact on animal models of spinal cord injury, and points the way for future studies.

Spinal cord injuries are mostly caused by trauma, often incurred in road traffic or sporting incidents, often with devastating and irreversible consequences, and unfortunately having a relatively high prevalence (250,000 patients in the USA; 80% of cases are male). High-profile campaigners like the late actor Christopher Reeve, himself a victim of sports-related spinal cord injury, have placed high hopes in stem cell transplantation. But how likely is it to work?

This question is addressed in a paper published 17th December in the open access journal PLOS Biology by Ana Antonic, David Howells and colleagues from the Florey Institute and the University of Melbourne, Australia, and Malcolm MacLeod and colleagues from the University of Edinburgh, UK.

Stem cell therapy aims to use special regenerative cells (stem cells) to repopulate areas of damage that result from spinal cord injuries, with the hope of improving the ability to move ("motor outcomes") and to feel ("sensory outcomes") beyond the site of the injury. Many studies have been performed that involve animal models of spinal cord injury (mostly rats and mice), but these are limited in scale by financial, practical and ethical considerations. These limitations hamper each individual study's statistical power to detect the true effects of the stem cell implantation.

This new study gets round this problem by conducting a "meta-analysis" -- a sophisticated and systematic cumulative statistical reappraisal of many previous laboratory experiments. In this case the authors assessed 156 published studies that examined the effects of stem cell treatment for experimental spinal injury in a total of about 6000 animals.

Overall, they found that stem cell treatment results in an average improvement of about 25% over the post-injury performance in both sensory and motor outcomes, though the results can vary widely between animals. For sensory outcomes the degree of improvement tended to increase with the number of cells introduced -- scientists are often reassured by this sort of "dose response," as it suggests a real underlying biologically plausible effect.

The authors went on to use their analysis to explore the effects of bias (whether the experimenters knew which animals were treated and which untreated), the way that the stem cells were cultured, the way that the spinal injury was generated, and the way that outcomes were measured. In each case, important lessons were learned that should help inform and refine the design of future animal studies. The meta-analysis also revealed some surprises that should provoke further investigation -- there was little evidence of any beneficial sensory effects in female animals, for example, and it didn't seem to matter whether immunosuppressive drugs were administered or not.

The authors conclude: "Extensive recent preclinical literature suggests that stem cell-based therapies may offer promise; however the impact of compromised internal validity and publication bias means that efficacy is likely to be somewhat lower than reported here."

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Will stem cell therapy help cure spinal cord injury?

Novartis AG (NOVN) has a promising therapy for cancer. Its just not sure how to get it to patients easily.

The treatment is so potent that it cleared malignant cells in about 90 percent of patients facing almost certain death from the most common form of cancer in children.

The approach involves taking T cells, part of the bodys immune system, from the blood and engineering them to identify proteins on cancer cells. When returned to the patients bloodstream, the revamped T cells seek and destroy cancer cells. Its so specific that a single mistake can mean death for a patient, and so turbo-charged that Novartis plans to set up a network of hospitals versed in treating the spiking fever, chills and flu-like symptoms that may come as side effects.

The question is really if this is the right way to go at immunotherapy, a burgeoning field of medicine that empowers the immune system to fight diseases such as cancer, Michael Leuchten, an analyst at Barclays Plc in London, said in an interview.

Cancer cells can use proteins on their surfaces as biological cloaks of invisibility to elude detection by the immune-system cells policing the body. Immunotherapies include checkpoint agents, drugs that strip away such disguises and expose cancer cells to attack; products such as Dendreon Corp. (DNDN)s Provenge, which combines a patients immune cells with vaccine components in an infusion; and so-called biconjugated antibodies that help immune cells anchor themselves to cancerous ones.

The total market may amount to a $35 billion watershed for cancer drugs, according to Andrew Baum, a pharmaceutical analyst for Citigroup Inc. in London. Baum sees Roche Holding AG (ROG) and Bristol-Myers Squibb Co. (BMS), based in New York, as the fields leaders. Roche -- like Novartis, based in Basel, Switzerland -- is developing an infused immunotherapy which blocks a protein that prevents the immune system from attacking cancer cells. Bristol-Myers sells the drug Yervoy, which helps the immune system fight melanoma.

Unlike those therapies, Novartiss CTL019 isnt as easy to produce and transport. For the researchers and the company, the results are worth the effort. If they find a way to deliver the treatment to the masses, CTL019, also known as CART-19, has the potential to generate $10 billion a year if approved to treat multiple forms of cancer, according to Baum.

CART-19 gives us a huge move into immunotherapy, a first-mover advantage, Chief Executive Officer Joe Jimenez said during a conference this year.

Nineteen out of 22 children who had exhausted all drug treatment and bone-marrow transplant options for acute lymphoblastic leukemia went into remission after receiving the therapy, also known as CART-19, according to data presented this month at the American Society of Hematology meeting in New Orleans. Five patients later relapsed, including one whose new tumor cells produced a protein that enabled them to elude the souped-up T cells.

In chronic lymphocytic leukemia, a much larger market, the therapy provoked a response in 47 percent of patients, with half of those patients experiencing a complete remission.

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Novartis Needs Special Delivery for Potent Cell Therapy

Genetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level and type of the genetic relationship between individuals. This application of genetics became popular with family historians in the first decade of the 21st century, as tests became affordable. The tests have been promoted by amateur groups, such as surname study groups, or regional genealogical groups, as well as research projects such as the genographic project. As of 2013 hundreds of thousands of people had been tested. As this field has developed, the aims of practitioners broadened, with many seeking knowledge of their ancestry beyond the recent centuries for which traditional pedigrees can be constructed.

The investigation of surnames in genetics can be said to go back to George Darwin, a son of Charles Darwin. In 1875, George Darwin used surnames to estimate the frequency of first-cousin marriages and calculated the expected incidence of marriage between people of the same surname (isonymy). He arrived at a figure between 2.25% and 4.5% for cousin-marriage in the population of Great Britain, higher among the upper classes and lower among the general rural population.[1]

Origin of peoples in a context of DNA genealogy is an assignment of each of them to a particular tribe or its branch (lineage) initiated in a genealogical sense by a particular ancestor who had a base (ancestral) haplotype. This also includes an estimation of a time span between the common ancestor and its current descendants. If information obtained this way can be presented in a historical context and supported, even arguably, by other independent archeological, linguistic, historical, ethnographic, anthropological and other related considerations, this can be called a success.[2] Just in the last 20 years scientists began to use Y-Chromosome markers and Mt-Chromosome markers, to provide evidence of common ancestry between individuals with a tradition of common ancestry. Two notable studies showed common heritage between men from Cohen Jewish lineages.[3]

One famous study examined the lineage of descendants of Thomas Jeffersons paternal line and male lineage descendants of the freed slave, Sally Hemmings.[4]

Bryan Sykes, a molecular biologist at Oxford University tested the new methodology in general surname research. His study of the Sykes surname obtained results by looking at four STR markers on the male chromosome. It pointed the way to genetics becoming a valuable assistant in the service of genealogy and history.[5]

The first company to provide direct-to-consumer genetic DNA testing was the now defunct GeneTree. However, it did not offer multi-generational genealogy tests. In fall 2001, GeneTree sold its assets to Salt Lake City-based Sorenson Molecular Genealogy Foundation (SMGF) which originated in 1999.[6] While in operation, SMGF provided free Y-Chromosome and mitochondrial DNA tests to thousands.[7] Later, GeneTree returned to genetic testing for genealogy in conjunction with the Sorenson parent company and eventually was part of the assets acquired in the Ancestry.com buyout of SMGF.[8]

In 2000, Family Tree DNA, founded by Bennett Greenspan and Max Blankfeld, was the first company dedicated to direct-to-consumer testing for genealogy research. They initially offered eleven marker Y-Chromosome STR tests and HVR1 mitochondrial DNA tests. They originally tested in partnership with the University of Arizona.[9][10][11][12][13][14][15]

The publication of Sykes The Seven Daughters of Eve in 2001, which described the seven major haplogroups of European ancestors, helped push personal ancestry testing through DNA tests into wide public notice. With the growing availability and affordability of genealogical DNA testing, genetic genealogy as a field grew rapidly. By 2003, the field of DNA testing of surnames was declared officially to have arrived in an article by Jobling and Tyler-Smith in Nature Reviews Genetics.[16] The number of firms offering tests, and the number of consumers ordering them, rose dramatically.[17]

The original Genographic Project was a five-year research study launched in 2005 by the National Geographic Society and IBM, in partnership with the University of Arizona and Family Tree DNA. Its goals were primarily anthropological. The project announced that by April 2010 it had sold more than 350,000 of its public participation testing kits, which test the general public for either twelve STR markers on the Y-Chromosome or mutations on the HVR1 region of the mtDNA.[18]

In 2007, annual sales of genetic genealogical tests for all companies, including the laboratories that support them, were estimated to be in the area of $60 million (2006).[7]

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Genetic genealogy - Wikipedia, the free encyclopedia

PUBLIC RELEASE DATE:

17-Dec-2013

Contact: Ben Jones B.P.Jones@leeds.ac.uk University of Leeds

A new gene mutation which will help doctors give a more accurate diagnosis of a particular type of brain and muscle disease in children has been discovered for the first time by University of Leeds experts.

Mitochondrial myopathy, as it is known, causes muscle weakness, movement problems and learning difficulties and affects more than 70,000 people in the UK.

For the first time, mutations in a particular gene, MICU1, have been linked to myopathy. The discovery gives a better understanding of the genetic causes of the condition.

Working with colleagues from University College London and Great Ormond Street Hospital, as well as colleagues from the Netherlands and Italy, Dr Eamonn Sheridan's team identified two mutations in the gene using a technique called exome sequencing an alternative to whole genome sequencing.

Mitochondria are the batteries of the body's cells where energy is produced. They are found in large numbers in nerve and muscle cells, which have high energy demands. To function properly, mitochondria need a certain amount of calcium. If calcium levels are either too high or too low, they stop working properly.

MICU1 carries instructions for a protein which is essential for mitochondrial function.

Researchers found that mutations in the MICU1 gene caused less protein to be produced which led to an increase in calcium in the mitochondria. This resulted in damage to the mitochondria and changes in calcium levels in the rest of the cell.

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New gene mutation will help better diagnosis of myopathy

Tomorrows oranges might just have a little spinach in them. To battle the spread of a disease called citrus greeningwhich starves trees of nutrients and causes oranges to become green, misshapen, and bitter, and to fall prematurelyTropicana (PEP) supplier Southern Gardens Citrus has been funding research to engineer an orange plant that resists greening through a spinach gene. Field trials are showing promise, according to a recent update from Food Safety News.

The Department of Agriculture last week said orange output in Florida for the 12 months that started Oct. 1 will be 121 million boxes, the lowest since 1990, reported Bloomberg News. The decrease pushed up orange juice futures prices in New York.

Citrus greening, a disease spread by a small insect called a psyllid, has plagued Floridas crop for about a decade and now threatens other citrus fruits such as oranges, lemons, and grapefruits in South Carolina, Georgia, Louisiana, Texas, and California. Greening has already cost Florida more than $4 billion in lost economic output and thousands of jobs since 2005, economists at the University of Florida estimate.

Having achieved little success with a search for an immune tree, unleashing psyllid predators like wasps and spraying large amounts of pesticides, growers are increasingly seeking a cure by engineering new, disease-resistant trees.

The spinach gene produces a protein that attacks the bacteria, according to Erik Mirkov, a Texas A&M University plant pathologist whos leading the study. And no, it does not make the oranges taste like spinach. Mirkov has grafted shoots of the new variety onto existing trees to help them flower faster, thus hastening safety testing of the new pollen on animals including bees and mice and, eventually, government testing of the juice. His work is described in a July New York Times story:

In some rows were the trees with no new gene in them, sick with greening. In others were the 300 juvenile trees with spinach genes, all healthy. In the middle were the trees that carried his immediate hopes: 15 mature Hamlins and Valencias, seven feet tall, onto which had been grafted shoots of Dr. Mirkovs spinach gene trees.

While Southern Gardens testing has been positive, any juice from these trees remains years away. And their success on the market would be challenged by consumer concerns about the effect of genetically modified foods on health (such as provoking allergies) and the environment (like escaping into the wild or harming beneficial insects). As Southern Gardens President Ricke Kress told Food safety News: Proof of success will only come with the public.

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Can Genetically Modifying an Orange With a Spinach Gene Save Florida’s Crop?

CTVNews.ca Staff Published Tuesday, December 17, 2013 4:23PM EST Last Updated Tuesday, December 17, 2013 6:29PM EST

Parents of mentally ill adults have long reported that the first signs of mental illness emerged during their childrens teen years. Now researchers say theyve identified what they call the teen gene, which could be the biological trigger for teen-related behavioural problems.

Researchers at the McGill-affiliated Douglas Institute Research Centre say the gene, called DCC, controls dopamine connectivity in the prefrontal cortex during adolescence, and that dysfunction of the gene -- through stress and drug abuse, for example -- can lead to long-term mental health consequences.

The prefrontal cortex, associated with judgment, decision-making and flexibility, is crucial for learning, motivation, and cognitive processes. And because the prefrontal cortex continues to develop into adulthood, the region is highly susceptible to being shaped by life experiences in adolescence.

"Certain psychiatric disorders can be related to alterations in the function of the prefrontal cortex and to changes in the activity of the brain chemical dopamine," said Cecilia Flores, senior author on the study and psychiatry professor at McGill University. "Prefrontal cortex wiring continues to develop into early adulthood, although the mechanisms were, until now, entirely unknown."

The breakthrough discovery, which provides the first clues to a fuller understanding of brain development, could hold promise in combating severe mental illness, the researchers say.

What we are finding is that the function and the amount of DCC that we have during adolescence can determine our vulnerability to certain psychiatric disorders in adulthood, Flores told CTV News.

And whats more, the study suggested that the amount or the levels of the DCC gene during adolescence can be changed (through) life events.

Dr. Hazen Gandy, a child and adolescent psychiatrist at CHEO,notes the work was partially done in mice,which means much more work needs to be done to confirm it plays a role in humans.

It is a piece of the puzzle;I think its hard to say how big a piece it is-- wehave to appreciate that this is research in animal models and we always have to be careful about translating what we find in animal models in terms of how that really translates in human behaviour, Gandy told CTV News. But it is a piece of larger puzzle of understanding human brain development, and I think it speaks to the need for us to really look atfocusing on early detection and working on better ways of intervention in the adolescent population.

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Discovery of 'teen gene' could help combat severe mental illness later in life

PUBLIC RELEASE DATE:

18-Dec-2013

Contact: Sarah Avery sarah.avery@duke.edu 919-660-1306 Duke University Medical Center

DURHAM, N.C. A genetic trait known to make some people especially sensitive to stress also appears to be responsible for a 38 percent increased risk of heart attack or death in patients with heart disease, scientists at Duke Medicine report.

The finding outlines a new biological explanation for why many people are predisposed to cardiovascular disease and death, and suggests that behavior modification and drug therapies could reduce deaths and disability from heart attacks.

The study appears in the Dec. 18, 2013, issue of the journal PLOS ONE.

"We've heard a lot about personalized medicine in cancer, but in cardiovascular disease we are not nearly as far along in finding the genetic variants that identify people at higher risk," said senior author Redford B. Williams Jr., M.D. director of the Behavioral Medicine Research Center at Duke University School of Medicine. "Here we have a paradigm for the move toward personalized medicine in cardiovascular disease."

Williams and colleagues built on previous work at Duke and elsewhere that identified a variation in a DNA sequence, known as a single nucleotide polymorphism (SNP), where one letter in the genetic code is swapped for another to change the gene's function. The SNP the Duke team focused on occurs on the gene that makes a serotonin receptor, and causes a hyperactive reaction to stress.

In a study published last year, the researchers reported that men with this genetic variant had twice as much cortisol in their blood when exposed to stress, compared to men without the genetic variant. Known as a "stress hormone," cortisol is produced in the adrenal gland to support the body's biological response when reacting to a situation that causes negative emotions.

"It is known that cortisol has effects on the body's metabolism, on inflammation and various other biological functions, that could play a role in increasing the risk of cardiovascular disease," said lead author Beverly H. Brummett, Ph.D., associate professor of Psychiatry and Behavioral Sciences at Duke. "It has been shown that high cortisol levels are predictive of increased heart disease risk. So we wanted to examine this more closely."

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Stress reaction gene linked to death, heart attacks

When personal genomics and biotech firm 23andMe was founded in Mountain View, Calif., in 2006, the hype over the genetic tests it offered directly to consumers was immediate and irresistible to many. The company promised that for a nominal fee, it could scan your saliva sample and tell you based on your genetics everything from who your ancestors were to what diseases you may be at risk of developing many years down the road. 23andMe raised more than $100 million in capital from such big-name investors as Google and Genentech. Today, the companys website boasts having close to 500,000 genotyped consumers.

So it was a surprise to some observers when, on November 22, the U.S. Food & Drug Administration (FDA) sent a strongly worded letter to 23andMe CEO Anne Wojcicki demanding that the company stop marketing its test, called Personal Genome Service (PGS), until it secures authorization from the agency. The FDA contends that PGS is a medical device being pitched for the diagnosis and prevention of disease, and therefore it must obtain approval under federal law.

Whenever regulators step in and try to yank a product off the market particularly when the company selling it is already well entrenched it invariably sparks a debate about whether over-regulation will stifle technology innovation. However, some experts believe the real issue at stake in the 23andMe controversy is not innovation, but rather the firms selling strategy. I suspect that a lot of this boils down to the way 23andMe has been marketing itself. It has taken a pretty aggressive stance in saying its services have a medical benefit, notes Reed Pyeritz, professor of medicine and chief of the division of medical genetics at the Perelman School of Medicine at the University of Pennsylvania. That does get the attention of the FDA.

Indeed, as the FDA pointed out in its letter, PGS promised to provide information on 254 health conditions, including heart disease, diabetes and breast cancer. 23andMe offered complete reports along with the test results, with advice on genetic susceptibility, potential response to particular drugs and preventative steps customers might take to protect their health. Most of the intended uses for PGS listed on your website, a list that has grown over time, are medical device uses, the warning letter says.

The understanding of the human genome is still in its infancy, and in most cases, genetic susceptibility to a disease does not translate into a definitive risk of developing that condition. The FDA expressed concern that 23andMes customers would take drastic measures to prevent diseases without fully understanding what their genetic results truly prove about their risks. The worries are well-founded because who knows what individuals will do with information that they interpret themselves? Pyeritz says. Very few genetic tests actually have been studied for clinical utility. Had 23andMe been marketing things more truthfully, I wonder if they would have ever gotten this warning letter from the FDA.

I suspect that a lot of this boils down to the way 23andMe has been marketing itself. It has taken a pretty aggressive stance in saying its services have a medical benefit. Reed Pyeritz

23andMe continues to sell PGS; however, it is only offering ancestry information and raw genetic data without any interpretation, a spokeswoman for the company told Knowledge@Wharton in an e-mail. Our goal is to work with the FDA in a way that clearly demonstrates the benefit to people and the validity of the science that underlies the test, she wrote, adding that the company intends to complete the regulatory review process.

Recreational Genetics

Just how useful are genetic tests marketed directly to consumers? Pyeritz has undertaken a few studies designed to answer that question. One set of studies, done in conjunction with the Coriell Institute for Medical Research in Camden, N.J., set out to determine the demographics of people who seek out direct-to-consumer genetic tests. The researchers discovered that most customers are Caucasian, well educated and economically upscale exactly what they expected for a product that could be considered recreational genetics, Pyeritz says.

Beyond that, we asked them what they intended to do with the information, he notes. The majority said, Were going to give it to our physicians.

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The FDA vs. 23andMe: A Lesson for Health Care Entrepreneurs

PHILADELPHIA This December marks the 40th anniversary of the Abramson Cancer Center (ACC) of the University of Pennsylvania being designated a Comprehensive Cancer Center by the National Cancer Institute. To celebrate this momentous milestone, over 400 people gathered together early this month for an event recognizing the centers vast achievements in cancer research, patient care, and education during the last four decades.

Leaders from the ACC, including its director Chi V. Dang, MD, PhD, also bestowed Bert Vogelstein, MD, a world-renowned geneticist from The Johns Hopkins University and a University of Pennsylvania alumni, with the inaugural Abramson Award. The award recognizes key achievements made by the world's most innovative contributors in the field of oncology -- those whose work has changed the paradigm of modern cancer research and clinical care.

Dr. Vogelsteins pioneering studies of the genetic causes of human cancer have placed him among the most influential biomedical scientists in the world, and his work has helped provide the conceptual basis for what is now called "personalized medicine. He and his team were the first to map cancer genomes and use genome-wide sequencing to identify the basis of a hereditary form of cancer.

Dr. Vogelstein and his colleagues have demonstrated that colorectal tumors result from the gradual accumulation of genetic alterations in specific oncogenes and tumor suppressor genes. A recent recipient of the inaugural Breakthrough Prize in Life Sciences, his work on colorectal cancers forms the foundation for much of modern cancer research, with profound implications for diagnostic and therapeutic strategies in the future.

The celebratory evening also included remarks from Penn Medicine leaders J. Larry Jameson, MD, PhD, executive vice president of the University of Pennsylvania for the Health System and Dean of the Perelman School of Medicine, and Ralph W. Muller, CEO of the University of Pennsylvania Health System, and Daniel J. Keating, III, Chair of the ACC Director's Leadership Council, who shared his personal cancer journey and the stories of a several remarkable cancer patients and survivors.

Endowed professorships are the highest honor a Perelman School of Medicine faculty member can achieve, and these important posts were highlighted throughout the evening. They are vital to the ACCs mission to stay at the forefront of cancer research and care by attracting and supporting extraordinary minds, allowing them to explore new avenues of discovery treatment, and cures. Click here for a full listing of endowed professors and the generous donors who support them.

Numerous other awards and honors were given to recognize the ACCs most promising investigators, compassionate clinicians, and distinguished teachers. Click here for a full list of honorees.

Click below to watch a video portraying the story of the Abramson Cancer Center over the past 40 years.

###

Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania(founded in 1765 as the nation's first medical school) and theUniversity of Pennsylvania Health System, which together form a $4.3 billion enterprise.

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Penn Medicine's Abramson Cancer Center Celebrates 40 Years, Bestows Inaugural Abramson Award

Breast cancer genetics
Published: 19 November 2011 #39;Genetic profiling has revolutionised our understanding of breast cancer, but a decade on, there is still much to be achieved. Re...

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Breast cancer genetics - Video

[1.6.4] Advanced Genetics Minecraft Mod Showcase
Very complicated mod! Take the DNA of a mob and put its genes into your bloodstream! Download: http://bit.ly/18QBJSK ----------------------------------------...

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[1.6.4] Advanced Genetics Minecraft Mod Showcase - Video

Tangie - DNA Genetics/The Bushdocter - 3rd Place Winner 2013 Cannabis Cup AMSTERDAM WEED REVIEW
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Tangie - DNA Genetics/The Bushdocter - 3rd Place Winner 2013 Cannabis Cup AMSTERDAM WEED REVIEW - Video

Genetics 2nd Exam : lecture 3
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Genetics 2nd Exam : lecture 3 - Video

Dr. Janet Rowley, a pioneer in cancer genetics research, has died at age 88.

Rowley spent most of her career at the University of Chicago, where she also obtained her medical degree. She died Tuesday of ovarian cancer complications at her home nearby, the university said in a statement.

Rowley conducted landmark research with leukemia in the 1970s, linking cancer with genetic abnormalities work that led to targeted drug treatment for leukemia. She identified a genetic process called translocation, now widely accepted. By 1990, more than 70 translocations had been identified in various cancers, according to her biography on the National Library of Medicine's website.

She is a recipient of the National Medal of Science, the nation's highest scientific honor and the Presidential Medal of Freedom, the nation's highest civilian honor.

"Janet Rowley's work established that cancer is a genetic disease," Mary-Claire King, president of the American Society of Human Genetics, said recently. "We are still working from her paradigm."

Rowley, known among colleagues for her intelligence and humility, called receiving the presidential award, in 2009, "quite remarkable."

"I've never regretted being in science and being in research," Rowley said at the time. "The exhilaration that one gets in making new discoveries is beyond description."

With her silvery hair and twinkling eyes, Rowley was a recognizable figure at the University of Chicago, often seen riding her bike around the South Side campus, even up until a few months ago despite her disease. She remained active in research until close to her death and hoped that her own cancer could contribute to understanding of the disease.

Just last month, she was well enough to attend a celebration of the 50th anniversary of the presidential medal in Washington alongside other previous recipients and this year's winners, who include several scientists, former President Bill Clinton, Oprah Winfrey, baseball's Ernie Banks and Loretta Lynn.

Rowley was born in New York City in 1925 and at age 15 won a scholarship to an advanced academic program at the University of Chicago. She went to medical school there when the quota was just three women in a class of 65, the university said.

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Janet Rowley, Cancer Genetics Pioneer, Dies at 88

In a study led by Washington University that includes BYU, researchers have identified a gene that doubles one's risk of developing Alzheimer's disease. The findings have been published in the journal Nature.

Lisa F. Young, Getty Images/iStockphoto

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A research collaboration led by Washington University has found a gene variation that doubles one's risk of developing Alzheimer's disease. The finding adds to a rapidly accelerating body of information about the neurodegenerative disease, which affects more than 5 million Americans.

The findings are published online in the journal Nature.

"The newly identified variations, found in a gene never before linked to Alzheimer's, occur rarely in the population, making them hard for researchers to identify," according to the study's background information. "But they're important because individuals who carry these variations are at substantially increased risk of the disease."

"Most of the genes that were discovered for Alzheimer's in the past two years have very minor effect," said John Kauwe, a biology professor at Brigham Young University who co-authored the study. He said that 19 of the "20-some-odd" genes linked to Alzheimer's in the last five years each affect risk by just 1 to 3 percent.

The methodology for this study was also important, according to Kauwe and Carlos Cruchaga, assistant professor of psychiatry at Washington University, who led the study. Cruchaga said it will open new doors to understanding the disease and how gene variants affect risk, either in combination or alone.

They took a different approach to finding the variants. Instead of taking a scattershot approach and looking at the largest number of subjects possible, they selected pedigrees that had interesting patterns of inheritance and were already identified as having multiple members with Alzheimer's, then drilled down to find the actual genetic variants.

Washington University identified and evaluated families, finding a number of things researchers wanted to focus on, then asked BYU researchers to help examine those questions.

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Rare gene discovered that doubles Alzheimer's risk

PUBLIC RELEASE DATE:

17-Dec-2013

Contact: Alison Barbuti alison.barbuti@manchester.ac.uk 01-612-758-383 University of Manchester

A study by Manchester scientists backs preventative surgery to improve survival for women who are at greater risk of getting ovarian cancer and suggests it appears helpful for women at risk of getting breast cancer because of genetic faults.

Women who carry, a fault in one of two high-risk genes known as BRCA1 or BRCA2, have an increased risk of dying from breast and/or ovarian cancer. Many, including high-profile celebrities such as Angelina Jolie, choose to undergo surgery to remove their healthy breasts, ovaries or both before the disease affects them. However, few studies have looked at the possible benefits of these procedures across large groups of women.

The researchers from The University of Manchester part of Manchester Cancer Research Centre - looked at 691 women who had undergone genetic testing and were confirmed as carrying a mutation in either the BRCA1 or BRCA2 gene before they had developed cancer. The study, funded by Genesis Breast Cancer Prevention, the UK's only charity entirely dedicated to the prediction and prevention of breast cancer. The results were published recently in Breast Cancer Research and Treatment.

Just over one-third of women in this study opted for preventative surgery. The researchers compared outcomes for those who chose to have risk-reducing surgery with those who did not.

Professor Gareth Evans, from The University of Manchester part of Manchester Cancer Research Centre, said: "The research shows a major benefit from undergoing risk-reducing surgery, particularly removal of the ovaries and fallopian tubes which reduces the risk of both ovarian cancer greatly and breast cancer by about half."

The Manchester researchers found that women who had any form of risk-reducing surgery had increased survival compared to those deciding against such an operation. Life expectancy was almost normalised in those that underwent surgery but substantially reduced in those who did not.

Further research is now needed to assess the possible advantage of a double mastectomy alone.

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Research backs risk-reduction surgery for ovarian cancer

20 hours ago

RNA, a nucleic acid involved in protein synthesis, is widely used in genetic research to study patterns of gene expression in different organisms. The types and quantities of RNA present in an organism indicate which genes are expressed, providing insight on the genes responsible for particular phenotypes.

Many tools, such as next-generation sequencing and quantitative PCR, are available for studying gene expression. However, these tools rely on the extraction of high-quality RNA from the organism of interest, and this can be a challenging task. Compared to genomic DNA, RNA is more delicate and prone to degradation. Additionally, many plant tissues are infused with starch, fibers, or secondary compounds that inhibit the isolation of RNA of sufficient quality and/or quantity.

Although numerous protocols for RNA extraction have been developed, most of these are plant-specific, with many tailored for particular crop plants or model organisms (e.g., Arabidopsis), making their utility for non-model plant species, which constitute the vast bulk of plant diversity, somewhat limited.

Researchers at the University of California, Berkeley, have developed a new protocol for RNA extraction that can be used across land plants, which comprise over 300,000 species. The protocol is available for free viewing in the December issue of Applications in Plant Sciences.

According to Chelsea Specht, associate professor in the Department of Plant and Microbial Biology at UC Berkeley and senior author of the study, this protocol will greatly facilitate RNA-based studies of non-model plant species.

"Using this protocol, we can successfully extract high yields and high-quality RNA from tissues of any type from plants across the diversity of land plants, including tissues that are mechanically difficult to grind, rich in starch, or laden with secondary compounds."

Lead author Roxana Yockteng, Specht, and their colleagues tested the protocol on a wide variety of land plant species (one moss species, three gymnosperm species, and numerous angiosperm species) as well as different tissue types (e.g., leaves, flowers, and cones). They were able to consistently recover large quantities of high-quality RNA from the samples tested, demonstrating the broad utility of the protocol.

Specht says the efficacy of the protocol lies in its flexibility; there are numerous steps in the protocol that can be readily modified to accommodate variations in plant chemistry and structure.

"You can micromanage your RNA extraction and make small changes that work for you, regardless of what lab you're in or what plant you are working with."

Excerpt from:
A universal RNA extraction protocol for land plants

Genetic Engineering TED Talk

By: William Kennedy

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Genetic Engineering TED Talk - Video

PUBLIC RELEASE DATE:

16-Dec-2013

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

New Rochelle, NY, December16, 2013--Blue light has proven to have powerful bacteria-killing ability in the laboratory. The potent antibacterial effects of irradiation using light in the blue spectra have now also been demonstrated in human and animal tissues. A series of groundbreaking articles that provide compelling evidence of this effect are published in Photomedicine and Laser Surgery, a peer-reviewed journal published by Mary Ann Liebert, Inc., publishers. The articles are available on the Photomedicine and Laser Surgery website.

"Bacterial resistance to drugs poses a major healthcare problem," says Co-Editor-in-Chief Chukuka S. Enwemeka, PhD, Dean, College of Health Sciences, University of Wisconsin--Milwaukee, in the accompanying Editorial "Antimicrobial Blue Light: An Emerging Alternative to Antibiotics," citing the growing number of deadly outbreaks worldwide of methicillin-resistant Staphylococcus aureus (MRSA). The articles in this issue of Photomedicine and Laser Surgery provide evidence that "blue light in the range of 405-470 nm wavelength is bactericidal and has the potential to help stem the ongoing pandemic of MRSA and other bacterial infections."

In the article "Effects of Photodynamic Therapy on Gram-Positive and Gram-Negative Bacterial Biofilms by Bioluminescence Imaging and Scanning Electron Microscopic Analysis," Aguinaldo S. Garcez, PhD and coauthors show that photodynamic therapy and methylene blue delivered directly into the root canal of a human tooth infected with a bacterial biofilm was able to destroy both Gram-positive and Gram-negative bacteria, disrupt the biofilms, and reduce the number of bacteria adhering to the tooth.

Raymond J. Lanzafame, MD, MBA, and colleagues demonstrated significantly greater bacterial reduction in the treatment of pressure ulcers in mice using a combination of photoactivated collagen-embedded compounds plus 455 nm diode laser irradiation compared to irradiation alone or no treatment. The antibacterial effect of the combined therapy increased with successive treatments, report the authors in the article "Preliminary Assessment of Photoactivated Antimicrobial Collagen on Bioburden in a Murine Pressure Ulcer Model."

In the article "Wavelength and Bacterial Density Influence the Bactericidal Effect of Blue Light on Methicillin-Resistant Staphylococcus aureus (MRSA)," Violet Bumah, PhD and coauthors compared the bacteria-killing power of 405 nm versus 470 nm light on colonies of resistant Staph aureus and how the density of the bacterial colonies could limit light penetration and the bactericidal effects of treatment.

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About the Journal

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