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Newswise Theodore Friedmann, MD, professor in the Department of Pediatrics at University of California, San Diego School of Medicine was named today one of three recipients of the 2015 Japan Prize, a prestigious international award honoring laureates whose original and outstanding achievements in science and technology have advanced the frontiers of knowledge and served the cause of peace and prosperity for mankind.

Friedmann is being recognized for his pioneering research and contributions to the development of gene therapy, a new field of medicine which in significant ways originated at UC San Diego. The sponsoring Japan Prize Foundation describes Friedmann as the father of gene therapy.

Sharing the 2015 Japan Prize in the field of medical science and medicinal science with Friedman is Alain Fischer, MD, PhD, director of immunology at the Necker Hospital in Paris, France. Fischer is credited with demonstrating the clinical efficacy of gene therapy by successfully treating children suffering from a severe genetic disorder that renders them extremely vulnerable to infections.

The third 2015 Japan Prize laureate is Yutaka Takahasi, PhD, professor emeritus at the University of Tokyo, who is being honored in the field of resources, energy and social infrastructure for his contributions to river basin management and reducing water-related disasters.

Each laureate will receive a certificate of recognition and commemorative gold medal. A cash award of approximately $416,600 will also be given to each prize field. Since its inception in 1985, 83 laureates from 13 countries have received the Japan Prize in a variety of fields and disciplines. Several have subsequently become Nobel Prize laureates as well.

In 1972, Friedmann, then a visiting scientist at the Salk Institute for Biological Sciences in La Jolla, and Richard Roblin, also at the Salk Institute, published a foundational article in the field, a paper in the journal Science under the heading Gene therapy for human genetic disease?

The idea of gene therapy, which quickly captured the public imagination, was fueled by its appealingly straightforward approach and what Friedmann has described as its obvious correctness: Disarm a potentially pathogenic virus to make it benign. Stuff these viral particles with normal DNA. Then inject them into patients carrying abnormal genes where they will deliver their therapeutic cargoes inside the defective target cells. In theory, the good DNA replaces or corrects the abnormal function of the defective genes, rendering previously impaired cells whole, normal and healthy. End of disease.

Its not quite that simple, of course, something Friedmann and Roblin cautioned in their 1972 paper. Despite progress in the understanding of cellular functions, the roles of DNA and a series of experimental and clinical advances, the history of gene therapy has been marked by distinct highs and lows.

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Friedmann Named 2015 Japan Prize Winner

Researchers at the Medical College of Wisconsin (MCW), in collaboration with other colleagues of the Genetic Epidemiology of Lung Cancer Consortium (GELCC), have identified a gene that is associated with lung cancer.

The findings are published in American Journal of Human Genetics. Through whole exome sequencing, researchers identified a link between a mutation in PARK2, a gene associated with early-onset Parkinson's disease, and familial lung cancer.

The researchers sequenced the exomes (protein coding region of the genome) of individuals from a family with multiple cases of lung cancer. They then studied the PARK2 gene in additional families affected by lung cancer.

"While this specific mutation is very rare in the general population, there was a significant association between the PARK2 mutation we studied and the families with multiple cases of lung cancer," said Donghai Xiong, PhD, assistant professor of pharmacology and toxicology at MCW and the lead author on the paper.

"These results implicate this specific mutation as a genetic susceptibility factor for lung cancer, and provide an additional rationale for further investigations of this gene and this mutation for evaluation of the possibility of developing targeted therapies against lung cancer in individuals with PARK2 variants," added Ming You, MD, PhD, the Joseph F. Heil Jr. Professor of Oncogenesis at MCW and Director of the MCW Cancer Center.

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The GELCC is headed by Dr. Marshall Anderson, PhD, professor of medicine at MCW. Other GELCC collaborating institutions include the National Human Genome Research Institute, the University of Cincinnati College of Medicine, the University of Toledo College of Medicine, the Louisiana State University Health Sciences Center, the Karmanos Cancer Institute in Detroit, Mich., the Mayo Clinic, the Geisel School of Medicine at Dartmouth College, the University of Pennsylvania, and the Baylor College of Medicine in Houston, Tex.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Parkinson's gene linked to lung cancer | EurekAlert ...

By Dennis Thompson HealthDay Reporter

TUESDAY, Jan. 27, 2015 (HealthDay News) -- A gene variant believed to "wire" people to live longer might also ensure that they keep their wits about them as they age, a new study reports.

People who carry this gene variant have larger volumes in a front part of the brain involved in planning and decision-making, researchers reported Jan. 27 in the Annals of Clinical and Translational Neurology.

These folks performed better on tests of working memory and the brain's processing speed, both considered good measures of the planning and decision-making functions controlled by the brain region in question.

"The thing that is most exciting about this is this is one of the first genetic variants we've identified that helps promote healthy brain aging," said study lead author Jennifer Yokoyama, an assistant professor of neurology at the University of California, San Francisco (UCSF). She noted that genetic research has mainly focused on abnormalities that cause diseases such as Alzheimer's and Parkinson's.

The gene involved, KLOTHO, provides the coding for a protein called klotho that is produced in the kidney and brain and regulates many processes in the body, the researchers said.

Previous research has found that a genetic variation of KLOTHO called KL-VS is associated with increased klotho levels, longer lifespan and better heart and kidney function, the study authors said in background information. About one in five people carries a single copy of KL-VS, and enjoys these benefits.

For this study, the researchers scanned the healthy brains of 422 men and women aged 53 and older to see if having a single copy of KL-VS affected the size of any brain area.

They found that people with this genetic variation had about 10 percent more volume in a brain region called the right dorsolateral prefrontal cortex, Yokoyama said.

This region is especially vulnerable to atrophy as people age, and its age-related decline may be one reason why older people can be easily distracted and have difficulty juggling tasks, she said.

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'Long Life' Gene Might Make Some Smarter, Too: Study

Dr. Theodore Friedmann is a longtime faculty member at UC San Diego and a pioneer in gene therapy.

Dr. Theodore Friedmann, a pioneer in the booming field of gene therapy, has been named a 2015 winner of the prestigious Japan Prize.

A pediatrician-turned-researcher at UC San Diego, Friedmann is renowned for demonstrating in the lab that it is possible to correct a genetic defect by adding a functional gene to defective cells, a feat he and colleagues accomplished in 1968. Since then, Friedmann has been guiding the young science through controversies, ethical challenges and setbacks.

Friedmann shares the prize in "medical science and medicinal science" with Dr. Alain Fischer of the Necker Hospital in Paris, France. Fischer helped demonstrate gene therapy's clinical ability to treat a genetic immune deficiency that makes patients extremely vulnerable to infections.

Along with the recognition, Friedmann and Fischer will split a $416,600 award, a certificate and gold medal. There's also the prospect of future recognition: several Japan Prize winners have gone on to win the Nobel Prize.

Friedmann is known not only as a scientist who demonstrated gene therapy is possible, but as a thinker who has dampened the waves of excessive exuberance and despondency that often accompanies the passage of research discoveries into therapies. He has also cautioned his fellow scientists to approach gene therapy with great caution.

In 1972, Friedmann co-authored an influential article in the journal Science, "Gene therapy for human genetic disease?" proposing a program of research advancement and safety precautions with an eye to eventual therapy. In February, 2010, he coauthored an article in Science about the potential use of performance-enhancing "gene doping" in sports.

Those who didn't heed Friedmann's warnings ran into trouble. For example, in 1999 gene therapy patient Jesse Gelsinger, 18, died due to an immune reaction. Gelsinger had a mild form of a genetically caused liver disease, controlled with drugs and diet. He was enrolled to test a treatment to be used in babies with a fatal form of the disease. But Gelsinger himself had little to gain.

A mountain of bad publicity threatened to sink the field. The New York Times wrote about "The Biotech Death of Jesse Gelsinger." As a consequence, other new forms of therapy, such as stem cell treatments, have progressed more slowly to avoid a repeat.

The Gelsinger disaster has receded into the background, as safer forms of gene therapy edge closer to becoming an accepted part of medicine. Forms of gene therapy are now being tested in clinical trials to treat such different diseases as cancer, sickle cell anemia and HIV, with impressive results.

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Friedmann wins Japan Prize for gene therapy

A gene variant believed to "wire" people to live longer might also ensure that they keep their wits about them as they age, a new study reports.

People who carry this gene variant have larger volumes in a front part of the brain involved in planning and decision-making, researchers reported Jan. 27 in the Annals of Clinical and Translational Neurology.

These folks performed better on tests of working memory and the brain's processing speed, both considered good measures of the planning and decision-making functions controlled by the brain region in question.

"The thing that is most exciting about this is this is one of the first genetic variants we've identified that helps promote healthy brain aging," said study lead author Jennifer Yokoyama, an assistant professor of neurology at the University of California, San Francisco (UCSF). She noted that genetic research has mainly focused on abnormalities that cause diseases such as Alzheimer's and Parkinson's.

The gene involved, KLOTHO, provides the coding for a protein called klotho that is produced in the kidney and brain and regulates many processes in the body, the researchers said.

Previous research has found that a genetic variation of KLOTHO called KL-VS is associated with increased klotho levels, longer lifespan and better heart and kidney function, the study authors said in background information. About one in five people carries a single copy of KL-VS, and enjoys these benefits.

For this study, the researchers scanned the healthy brains of 422 men and women aged 53 and older to see if having a single copy of KL-VS affected the size of any brain area.

They found that people with this genetic variation had about 10 percent more volume in a brain region called the right dorsolateral prefrontal cortex, Yokoyama said.

This region is especially vulnerable to atrophy as people age, and its age-related decline may be one reason why older people can be easily distracted and have difficulty juggling tasks, she said.

Referring to the region as the "conductor of the brain's orchestra," Yokoyama said that it helps people "pay attention to certain types of things, to appropriately shift your attention and to engage working memory," which is the ability to keep a small amount of newly acquired information in mind.

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"Long life" gene might also make some smarter

People who carry a gene variation associated with longevity have better brain cognition and are more resilient to aging, new research has found, paving the way for future treatments for brain aging and disease.

Using whole-brain analysis of healthy older adults, researchers at the University of California, San Francisco (UCSF) found that those who had the gene variation, a single copy of the KLOTHO allele, called KL-VS, had larger volumes in the right dorsolateral prefrontal cortex (rDLPFC) of their brains and therefore slightly better cognitive function.

KL-VS codes for a protein, called klotho, that circulates in the body and is present throughout the animal kingdom. Its long been known that klotho, which is produced in the kidneys and brain, regulates aging.

The rDLPFC region, which interacts with many other brain regions, is most known for its role in executive function, higher-level cognitive skills used to control and coordinate cognitive abilities and behaviors, such as attention, working memory, and decision-making.

This type of cognition is really important in sophisticated and very simple types of thinking, first author Jennifer Yokoyama, an assistant professor of neurology at UCSF told FoxNews.com.

The rDLPFC is very vulnerable to aging and tends to get smaller, leading to lower cognition, Yokoyama added.

What our data means in the bigger picture is that people who carry the genetic code, one in five people, that confers a decade of resilience against expected decline in executive function and size of that region, senior author Dr. Dena Dubal, an assistant professor of neurology at UCSF, told FoxNews.com.

The team also found that two copies of KL-VS, about three percent of people, was associated with a shorter lifespan, increased cardiovascular risk, worsened cognitive function, and a smaller rDLPFC.

The findings are one of the first showing the positive effect of a genetic variant on brain aging, researchers said, adding to their previously published research that found that boosting the level of KL-VS in mice lead to longer lifespan and increased brain function. With this understanding, scientists are one step closer to predicting healthy brain aging and treatment for diseases affecting rDLPFC, such as Alzheimers and Parkinsons.

The question we are answering next is what does this mean for [brain] disease and how can this be translated into some kind of therapeutic to help people suffering? Dubal said.

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Gene variant associated with better aging, cognitive function, study finds

DUBLIN, January 27, 2015 /PRNewswire/ --

Research and Markets (http://www.researchandmarkets.com/research/p54ckt/the_market_for) has announced the addition of the "The Market for Personalized Gene Therapy Treatments for Cancer" report to their offering.

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

The Market for Personalized Gene Therapy Treatments for Cancer

This report, The Market for Personalized Gene Therapy Treatments For Cancer provides an exhaustive review of the market potential for relatively new approach in cancer research. It involves modification of genes instead of using a surgical method or chemical drug product. Essentially, gene therapies replace an abnormal gene with a normal gene, or changes the response of a gene (turn on or off). Not all of the approaches to gene therapy are the same, and different cancers appear to respond better to different therapies.

Several gene therapy technologies have the ability to work in combination with other treatment options to enhance the effectiveness of a therapeutic regimen. Gene therapy is also designed to target specific cells making treatment much less damaging to healthy cells.

This report discusses those treatments and estimates market size and market potential for personalized medicine using gene therapy. As part of its data offering, the report provides disease incidence, gene therapy product developments and market forecasts for the following types of cancer:

In addition the report provides:

Historically, cancer treatments have been very invasive and detrimental process to the body. However, there are numerous new techniques available for those with cancer that are not as invasive and detrimental to the body as a whole. These treatments range from the severely alternative to the more traditional. Newer alternative treatments are more precise and much less invasive as some of the traditional methods. Gene therapy is the most prominent new form of these alternative treatments. It is being studied as a way to change how a cell functions, for example, by stimulating the cells of the immune system to attack cancer cells.

Companies discussed in this report include those which have registered trials in Phase I through Phase III development and have promising development activities.

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The Market for Personalized Gene Therapy Treatments for Cancer

A new Yale School of Medicine study has answered the question of why younger bodies respond better to flu vaccines than older ones.

Researchers found that healthy older adults produced protective antibodies for the flu vaccine at a different rate than younger adults. Lower vaccine responsiveness in older adults is related to less effective immune responses. The results represent the first genome-wide analysis of age-dependent responses to the flu vaccine. The study was published in the journal Aging on Jan. 14.

The research was conducted with the hope that the genetic pathways that were identified could be future targets for therapies to improve responses for vaccination, particularly in older adults, said Albert Shaw, professor of medicine and senior author of the paper.

Even when the influenza vaccine is a good match for currently circulating strains of the virus, most vaccines are less effective for older adults, Shaw said. In fact, roughly 90 percent of deaths from influenza in the country occur in people older than 65, Shaw said.

Shaw said he and his team wanted to identify patterns of gene expression that were found in older and younger adults who showed excellent responses to vaccination and compare those patterns to those who had poor responses to vaccination.

They found specific patterns of gene expression that corresponded to antiviral responses, including those that reflected activities of cells that make protective antibodies against the influenza strain and vaccine, he said. Although antibodies were created about seven days after vaccination for young adults, for older adults, the timing varied, he added.

The studys findings were not news to representatives from leading vaccine development companies.

It is well known in our industry that the elderly mount less of an immune response to vaccination, said Charles Altman, head of medical affairs at BioCSL. If you look in any product label, you will find that.

Many manufacturers are trying to improve elderly response, but they face limited options for innovation due to regulations put forth by the World Health Organization, which makes a recommendation each year about which viral strains manufacturers can put in vaccines.

Because manufacturers are not allowed to modify which viral strains they use in their products, they can only vary a few factors, among them dosage and added adjuvants material added to vaccines to promote immune response Altman said. Therefore, the study has little practical relevancy for manufacturers like BioCSL.

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Gene expression at play in age-dependent vaccine response

By Sheryl Ubelacker, The Canadian Press

TORONTO - As if autism wasn't already enough of a puzzle, researchers have discovered that even siblings affected by the disorder often don't share the same genetic mutations that appear to underlie their symptoms.

In a Canadian-led international study of 85 families with two children affected by autism spectrum disorder (ASD), researchers found that almost 70 per cent of the sibling pairs carried different genetic mutations related to the neurodevelopmental condition.

The scientists made the discovery after analyzing the DNA of both parents and children in a family, using whole genome sequencing.

The technique reads every one of the six billion letters that comprise an individual's genetic code, including those that make up more than 20,000 of a person's genes. Mutations are like typos in the massive encyclopedic tome that is human DNA.

"When we looked at the data, we were really surprised to see that when we could find mutations in genes that are known to be involved in autism, more often than not the siblings were carrying different mutations in different genes," said principal investigator Stephen Scherer, director of the Centre for Applied Genomics at Toronto's Hospital for Sick Children.

"I would have expected that more than one sibling would have carried the same sets of mutations because they both have autism."

Autism is a spectrum of related disorders with symptoms that can vary dramatically from one child to the next, although each will have problems with social skills, empathy, communication and inflexible behaviour. Two children with the same diagnosis say Asperger's syndrome may have very different abilities and behavioural traits.

Even in families with two siblings carrying the same genetic mutation, "in one case they'll be high-functioning and in the other low-functioning," he said.

While the genome results initially came as a surprise, Scherer said that on reflection they made sense: scientists have identified more than 100 genes that are implicated in autism spectrum disorder and they believe there are likely hundreds more.

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Gene profile may differ in siblings with autism

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Newswise PHILADELPHIA Tens of millions of people around the world have abnormal, leak-prone sproutings of blood vessels in the brain called cerebral cavernous malformations (CCMs). These abnormal growths can lead to seizures, strokes, hemorrhages, and other serious conditions, yet their precise molecular cause has never been determined. Now, cardiovascular scientists at the Perelman School of Medicine at the University of Pennsylvania have studied this pathway in heart development to discover an important set of molecular signals, triggered by CCM-linked gene defects, that potentially could be targeted to treat the disorder.

We hope that these findings will lead to a better understanding of the origins of CCM, and thus to treatment possibilities, says Mark L. Kahn, MD, a professor of Cardiovascular Medicine, and senior author of the new study, published in Developmental Cell.

Although CCM has a relatively high prevalence of 1 in 200 people worldwide, it typically goes undiagnosed until symptoms arise and can only be treated by brain surgery.

Research on CCM has been slowed by the difficulty of recreating the disease in lab animals. About 20 percent of CCM patients have a highly aggressive, inherited form of the disorder that is caused by inactivating one of three genes, whose protein products normally work together in a complex. But knockout mice bred without a full set of those genes dont mature to have CCMs in their brainsthey die in the womb, having failed to develop a working vascular system.

Those animals die so early in their development that you just dont get enough information about what the genes normally should be doing, Kahn says.

Studies by Kahns lab and others have shown that CCM gene knockouts remain lethal to fetal mice even when they are limited to the endothelial cells that line blood vessels and the heart.

In the new study, Kahn and colleagues used advanced techniques to restrict CCM gene disruption to the endothelial cells of the developing heart, leaving the mouse vascular system to develop otherwise normally.

The resulting mice still died before birth, this time from a failure of normal heart development, which is not seen in human CCM patients. But they survived in the womb about a week longer than standard CCM knockout mice. That allowed Kahns team to learn more about the effects of the gene disruptions, and ultimately to find a previously unknown CCM-related signaling pathway.

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Possible Therapeutic Target for Common, But Mysterious Brain Blood Vessel Disorder