25.09.2012 - (idw) Julius-Maximilians-Universitt Wrzburg

Many genes are suspected of being involved in the development of attention deficit hyperactivity disorder (ADHD). A Franco-German research group has now examined the role of one of these more closely and discovered clear indications of its complicity. Its scientific name is lphn3. In humans, this gene lies on chromosome 4 and codes the protein latrophilin 3, which may play a role as a synaptic protein and receptor in the brain when the typical characteristics of attention deficit hyperactivity disorder emerge: people affected struggle to focus their attention over longer periods, they are easily distracted, they tire quickly, they often react impulsively, and they demonstrate obvious motor restlessness.

Focus on the latrophilin 3 gene

Latrophilin 3 has long been suspected of being partly responsible for the typical characteristics of ADHD. Though, not all that much is known to date about its role within the physiological processes of the nervous system, says Professor Klaus-Peter Lesch.

Lesch is Chairman of the Department of Molecular Psychiatry and Spokesman for the ADHD Clinical Research Group at the University of Wrzburgs Department of Psychiatry, Psychosomatics, and Psychotherapy. He has had his sights on this protein for a few years now. And he is not alone: Researchers from the USA and Spain have recently shown that a particular variant of the latrophilin 3 gene is frequently found in the genetic material of patients who are still suffering from ADHD in adulthood, says Lesch. What is more, the gene has also been identified as one of a total of 86 risk genes that are suspected of triggering drug dependency. The occurrence of drug dependency is above average in ADHD patients.

Experiments on zebrafish larvae

To improve understanding of the role that latrophilin 3 plays in the development of ADHD symptoms, Lesch and scientists from the Institute of Neurobiology in Gif-sur-Yvette, France, conducted experiments with zebrafish larvae. Zebrafish have now become the standard model in science for examining the genetic fundamentals of brain development and behavior, explains Lesch.

In their experiments, the researchers inhibited the lphn3 gene during a particular development phase and then examined the behavior of the fish larvae. They concentrated primarily on the movement activity of the larvae as an easily measurable expression of motor restlessness.

The results

The outcome: We observed a significant increase in swimming distances and average speed in these fish larvae compared to a control group, write the authors. This effect was also evident during the night-time sleep phases in the same way as human ADHD patients can demonstrate hyperactivity symptoms in their sleep.

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ADHD: A gene makes fish larvae hyperactive

Recommendation and review posted by Bethany Smith

LEXINGTON, Mass., Sept. 26, 2012 /PRNewswire/ --Shire plc (LSE: SHP; NASDAQ: SHPG), today announced the appointment of Frederic Chereau as Senior Vice President and Franchise Lead, Angioedema, for its Human Genetic Therapies (HGT) business. In this role, Frederic will oversee the development and execution of the global strategy for the angioedema franchise. He will report to Sylvie Gregoire, President of Shire HGT. Frederic will be based in Shire's office in Lexington, Massachusetts.

"Frederic brings a wealth of experience from top pharmaceutical and biotech companies to Shire HGT, and we know he will be an important asset as we continue to grow and develop our Angioedema Franchise," said Sylvie Gregoire, President, Shire HGT. "With our recent strategic hires, we continue to strengthen our leadership team at HGT, and Frederic will support our goal of helping those with rare diseases lead better lives."

Frederic was previously President and CEO of Pervasis Therapeutics, which was recently acquired by Shire Regenerative Medicine. Prior to Pervasis, he spent nine years with Genzyme Corporation where he held a number of positions of increasing responsibility in Europe and the US, including Vice President and General Manager, leading the company's global cardiovascular business unit. Frederic began his career with Hemotech in France where he held various sales and marketing positions.

Frederic is currently a Member of the Board of Directors of the French American Chamber of Commerce of New England and a Member of Strategic Advisory Board of the La Rochelle Business School. Fluent in both French and English, Frederic holds a Bachelor's Degree in Physics from the University of Paris, a Master's Degree in Business Administration from La Rochelle Business School and an Executive MBA from INSEAD.

Notes to editors

Shire enables people with life-altering conditions to lead better lives.

Through our deep understanding of patients' needs, we develop and provide healthcare in the areas of:

as well as other symptomatic conditions treated by specialist physicians.

We aspire to imagine and lead the future of healthcare, creating value for patients, physicians, policymakers, payors and our shareholders.

"SAFE HARBOR" STATEMENT UNDER THE PRIVATE SECURITIES LITIGATION REFORM ACT OF 1995

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Frederic Chereau Joins Shire Human Genetic Therapies to Lead Angioedema Franchise

Recommendation and review posted by Bethany Smith

SADDLE BROOK, N.J., Sept. 25, 2012 /PRNewswire/ -- In a study published by the journal Nature on Sunday, scientists evaluated breast cancer from a genetic perspective and found distinct genetic differences in patients' tumors. The results of the research point to the fact that analyzing genetics is not only helpful for cancer research, but imperative. Based on the study, scientists conclude that breast cancer can be broken down into four different subtypes. Scientists hope to develop more efficient preventions and treatments for the disease based on the genomes studied.

Genetic Testing Laboratories Inc. offers a DNA test that highlights possible predispositions to some of the most ubiquitous diseases and conditions -- breast cancer included. The company specializes in DNA tests, covering a multitude of specialty tests including ancestral and paternity testing. As the most recent research shows, breast cancer is identifiable through biological details present. Genetic factors undoubtedly influence the onset of breast cancer as well as the treatments necessary to impede the spread of the disease.

As Breast Cancer Awareness Month approaches, people acknowledge the impact the disease has on many families worldwide. Stefan A. Long, Executive Director of GTL continues to stress the importance of taking preventative action:

"Our Genetic Predisposition Test offers a private, convenient way for people to understand and assess their genome. Our test covers 25 genetic predispositions to diseases that plague millions of Americans every year, and will continue to do so unless we take preventative action."

According to the National Cancer Institute, children with one parent carrying the autosomal dominant genetic predisposition have a 50 percent chance of inheriting a predisposition to breast cancer. Similarly, based on self-reports and independently verified cases, 83 to 97 percent of those diagnosed with breast cancer have a family history of the disease. Because genetics so strongly contribute to the likelihood of a positive breast cancer diagnosis, it is crucial to take action through education and preventative measures.

"The main goal of our DNA Predisposition Test is to help people make informed decisions based on their genetics. While it's impossible to control your genes, it's possible to make changes that keep genetic predispositions at bay," says Long.

To learn more about GTL, visit http://www.gtldna.com.

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Breakthrough Research Emphasizes Importance Of Genetics In Breast Cancer

Recommendation and review posted by Bethany Smith

(SACRAMENTO, Calif.) - Deborah K. Lieu, a stem cell scientist in cardiovascular medicine at UC Davis Health System, has received a $1.3 million research grant from the California Institute for Regenerative Medicine (CIRM) to develop stem cells that could serve as a biological alternative to the electronic pacemakers that people now use to regulate heart rhythm.

According to Lieu, each year 350,000 cardiology patients with abnormal heart rhythms receive electronic pacemakers to maintain a normal heart beat. The devices, while effective, have several disadvantages, including limited battery life and poor response to changing heart rates, such as when a person is exercising. Lieu, who is working with colleague Nipavan Chiamvimonvat, the Roger Tatarian Endowed Professor of Cardiovascular Medicine at UC Davis, plans to examine ways to improve the generation of pacemaking cells using human-induced pluripotent stem cells (hiPSCs), potentially creating what she calls a "biopacemaker."

"There are more than 3 million patients around the country who are dependent on electronic pacemakers," said Lieu. "Each one costs about $58,000 to implant and requires follow-up surgery about every 5 to 10 years to change batteries. Creating a biopacemaker from stem cells would avoid the burden of battery replacement and provide the physiological benefit of enabling a person's heart to naturally adapt to a rising heart rate during activities such as exercise."

Lieu's grant was among more than two dozen projects that received support from state stem cell agency's governing board last week as part of CIRM's Basic Biology awards program. The funding focuses on basic research projects that can provide a better understanding about the fundamental mechanisms of stem cell biology and move researchers closer to knowing how best to use stem cells to help patients.

To create the pacemaking cells, Lieu and her colleagues plan to manipulate an ion channel (the SK channels in cardiac myocytes) to alter the calcium signaling mechanisms during hiPSC differentiation. Stem cell scientists create hiPSCs - typically from an adult cell such as a skin cell - by inducing a "forced" expression of specific genes. Once reprogrammed, the cells take on a variety of capabilities (becoming pluripotent) and offer a range of stem cell treatment possibilities.

Development of a biopacemaker could also benefit the one-in-20,000 infants and premature babies suffering from congenital heart-rhythm dysfunction who currently are not suitable candidates for electronic pacemakers. Infants are physically too small for the device. A biological pacemaker could fit with their small stature and then grow as the infant grows.

Collaborating with Lieu and Chiamvimonvat on the research project will be Jan Nolta, director of the UC Davis Institute for Regenerative Cures; Donald Bers, chair of the UC Davis Department of Pharmacology; and James Chan, assistant professor in the Department of Pathology and affiliated with the NSF Center for Biophotonics Science and Technology at UC Davis.

UC Davis is playing a leading role in regenerative medicine, with nearly 150 scientists working on a variety of stem cell-related research projects at campus locations in both Davis and Sacramento. The UC Davis Institute for Regenerative Cures, a facility supported by the California Institute for Regenerative Medicine (CIRM), opened in 2010 on the Sacramento campus. This $62 million facility is the university's hub for stem cell science. It includes Northern California's largest academic Good Manufacturing Practice laboratory, with state-of-the-art equipment and manufacturing rooms for cellular and gene therapies. UC Davis also has a Translational Human Embryonic Stem Cell Shared Research Facility in Davis and a collaborative partnership with the Institute for Pediatric Regenerative Medicine at Shriners Hospital for Children Northern California. All of the programs and facilities complement the university's Clinical and Translational Science Center, and focus on turning stem cells into cures. For more information, visit http://www.ucdmc.ucdavis.edu/stemcellresearch.

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Pacemaker from Stem Cells Receives Research Funding

Recommendation and review posted by simmons

Public release date: 25-Sep-2012 [ | E-mail | Share ]

Contact: Heather Buschman hbuschman@sanfordburnham.org 858-795-5343 Sanford-Burnham Medical Research Institute

LA JOLLA, Calif., September 25, 2012 The process researchers use to generate induced pluripotent stem cells (iPSCs)a special type of stem cell that can be made in the lab from any type of adult cellis time consuming and inefficient. To speed things up, researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) turned to kinase inhibitors. These chemical compounds block the activity of kinases, enzymes responsible for many aspects of cellular communication, survival, and growth. As they outline in a paper published September 25 in Nature Communications, the team found several kinase inhibitors that, when added to starter cells, help generate many more iPSCs than the standard method. This new capability will likely speed up research in many fields, better enabling scientists around the world to study human disease and develop new treatments.

"Generating iPSCs depends on the regulation of communication networks within cells," explained Tariq Rana, Ph.D., program director in Sanford-Burnham's Sanford Children's Health Research Center and senior author of the study. "So, when you start manipulating which genes are turned on or off in cells to create pluripotent stem cells, you are probably activating a large number of kinases. Since many of these active kinases are likely inhibiting the conversion to iPSCs, it made sense to us that adding inhibitors might lower the barrier."

According to Tony Hunter, Ph.D., professor in the Molecular and Cell Biology Laboratory at the Salk Institute for Biological Studies and director of the Salk Institute Cancer Center, "The identification of small molecules that improve the efficiency of generating iPSCs is an important step forward in being able to use these cells therapeutically. Tariq Rana's exciting new work has uncovered a class of protein kinase inhibitors that override the normal barriers to efficient iPSC formation, and these inhibitors should prove useful in generating iPSCs from new sources for experimental and ultimately therapeutic purposes." Hunter, a kinase expert, was not involved in this study.

The promise of iPSCs

At the moment, the only treatment option available to many heart failure patients is a heart transplant. Looking for a better alternative, many researchers are coaxing stem cells into new heart muscle. In Alzheimer's disease, researchers are also interested in stem cells, using them to reproduce a person's own malfunctioning brain cells in a dish, where they can be used to test therapeutic drugs. But where do these stem cells come from? Since the advent of iPSC technology, the answer in many cases is the lab. Like their embryonic cousins, iPSCs can be used to generate just about any cell typeheart, brain, or muscle, to name a fewthat can be used to test new therapies or potentially to replace diseased or damaged tissue.

It sounds simple enough: you start with any type of differentiated cell, such as skin cells, add four molecules that reprogram the cells' genomes, and then try to catch those that successfully revert to unspecialized iPSCs. But the process takes a long time and isn't very efficientyou can start with thousands of skin cells and end up with just a few iPSCs.

Inhibiting kinases to make more iPSCs

Zhonghan Li, a graduate student in Rana's laboratory, took on the task of finding kinase inhibitors that might speed up the iPSC-generating process. Scientists in the Conrad Prebys Center for Chemical Genomics, Sanford-Burnham's drug discovery facility, provided Li with a collection of more than 240 chemical compounds that inhibit kinases. Li painstakingly added them one-by-one to his cells and waited to see what happened. Several kinase inhibitors produced many more iPSCs than the untreated cellsin some cases too many iPSCs for the tiny dish housing them. The most potent inhibitors targeted three kinases in particular: AurkA, P38, and IP3K.

Read more from the original source:
Making it easier to make stem cells

Recommendation and review posted by Bethany Smith

ScienceDaily (Sep. 25, 2012) The process researchers use to generate induced pluripotent stem cells (iPSCs) -- a special type of stem cell that can be made in the lab from any type of adult cell -- is time consuming and inefficient. To speed things up, researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) turned to kinase inhibitors. These chemical compounds block the activity of kinases, enzymes responsible for many aspects of cellular communication, survival, and growth.

As they outline in a paper published September 25 in Nature Communications, the team found several kinase inhibitors that, when added to starter cells, help generate many more iPSCs than the standard method. This new capability will likely speed up research in many fields, better enabling scientists around the world to study human disease and develop new treatments.

"Generating iPSCs depends on the regulation of communication networks within cells," explained Tariq Rana, Ph.D., program director in Sanford-Burnham's Sanford Children's Health Research Center and senior author of the study. "So, when you start manipulating which genes are turned on or off in cells to create pluripotent stem cells, you are probably activating a large number of kinases. Since many of these active kinases are likely inhibiting the conversion to iPSCs, it made sense to us that adding inhibitors might lower the barrier."

According to Tony Hunter, Ph.D., professor in the Molecular and Cell Biology Laboratory at the Salk Institute for Biological Studies and director of the Salk Institute Cancer Center, "The identification of small molecules that improve the efficiency of generating iPSCs is an important step forward in being able to use these cells therapeutically. Tariq Rana's exciting new work has uncovered a class of protein kinase inhibitors that override the normal barriers to efficient iPSC formation, and these inhibitors should prove useful in generating iPSCs from new sources for experimental and ultimately therapeutic purposes." Hunter, a kinase expert, was not involved in this study.

The promise of iPSCs

At the moment, the only treatment option available to many heart failure patients is a heart transplant. Looking for a better alternative, many researchers are coaxing stem cells into new heart muscle. In Alzheimer's disease, researchers are also interested in stem cells, using them to reproduce a person's own malfunctioning brain cells in a dish, where they can be used to test therapeutic drugs. But where do these stem cells come from? Since the advent of iPSC technology, the answer in many cases is the lab. Like their embryonic cousins, iPSCs can be used to generate just about any cell type -- heart, brain, or muscle, to name a few -- that can be used to test new therapies or potentially to replace diseased or damaged tissue.

It sounds simple enough: you start with any type of differentiated cell, such as skin cells, add four molecules that reprogram the cells' genomes, and then try to catch those that successfully revert to unspecialized iPSCs. But the process takes a long time and isn't very efficient -- you can start with thousands of skin cells and end up with just a few iPSCs.

Inhibiting kinases to make more iPSCs

Zhonghan Li, a graduate student in Rana's laboratory, took on the task of finding kinase inhibitors that might speed up the iPSC-generating process. Scientists in the Conrad Prebys Center for Chemical Genomics, Sanford-Burnham's drug discovery facility, provided Li with a collection of more than 240 chemical compounds that inhibit kinases. Li painstakingly added them one-by-one to his cells and waited to see what happened. Several kinase inhibitors produced many more iPSCs than the untreated cells -- in some cases too many iPSCs for the tiny dish housing them. The most potent inhibitors targeted three kinases in particular: AurkA, P38, and IP3K.

Working with the staff in Sanford-Burnham's genomics, bioinformatics, animal modeling, and histology core facilities -- valuable resources and expertise available to all Sanford-Burnham scientists and the scientific community at large -- Rana and Li further confirmed the specificity of their findings and even nailed down the mechanism behind one inhibitor's beneficial actions.

More:
Making it easier to make stem cells: Kinase inhibitors lower barrier to producing stem cells in lab

Recommendation and review posted by Bethany Smith

SEATTLE & SAN DIEGO--(BUSINESS WIRE)--

NanoString Technologies, Inc., a privately held provider of life science tools for translational research and developer of molecular diagnostics, today announced the launch of a Single Cell Gene Expression application that provides researchers with a flexible and highly sensitive approach to discovering differences in cell-to-cell gene expression profiles. The new Single Cell Gene Expression application allows a digital measurement of the expression of up to 800 unique transcripts, and offers superior performance to standard single cell microfluidic qPCR protocols. The single tube, highly multiplexed assay eliminates sample splitting and frees researchers from the constraints of fixed-format consumables employed by existing technologies, allowing them to assay genes based on the biology.

In side-by-side gene expression experiments using identical total RNA samples, reflecting RNA yields from 1 to 100 cells, the nCounter protocol demonstrated superior sensitivity compared to microfluidic qPCR. Specifically, the nCounter Single Cell Assay was able to quantify the expression of 70 percent more transcripts than the Fluidigm BioMark HD System run by a commercial service provider using an optimized single cell protocol (Citri et. al. , Nature Protocols (2012) Vol. 7(1):118-127). Results of this study will be presented today at the 2012 Select Sciences Single Cell Analysis Summit in San Diego.

Our Single Cell Assay allows cancer, stem cell and immunology researchers to profile gene expression with unmatched sensitivity and flexibility, said Barney Saunders, Ph.D., Senior Vice President and General Manager, Life Sciences at NanoString Technologies. Researchers who currently enjoy the digital precision, ease-of-use and ability to run challenging sample types such as FFPE tissue, can now utilize the nCounter system for more experiments using as little as 10pg of total RNA or even single cells.

Brad Gray, President and CEO of NanoString commented: Single cell gene expression is an area of rapidly growing interest from researchers who are already using nCounter technology as well as those who are getting to know our technology for the first time, said Brad Gray, President & CEO of NanoString Technologies. We are committed to constantly expanding the nCounter Analysis System application suite, and this new offering is just one of many new capabilities being developed by our R&D team.

The nCounter Analysis System is a fully automated, multi-application digital detection and counting system with a very simple workflow. The nCounter system has been employed in basic and translational research since it was first introduced in 2008. NanoString provides assays for gene expression, miRNA analysis and copy number variation.

Researchers attending the Single Cell Analysis Summit in San Diego can learn more about the new Single Cell Gene Expression application by attending NanoStrings workshop on Tuesday, September 25, 2012 from 12:45 1:30pm Pacific Standard Time or by visiting the NanoString booth. More information is available at http://www.NanoString.com.

About NanoString Technologies, Inc.

NanoString Technologies is a privately held provider of life science tools for translational research and developer of molecular diagnostics. The companys nCounter Analysis System is the first and only technology platform to deliver highly multiplexed, direct profiling of individual molecules in a single reaction without amplification. The nCounter Analysis System offers a cost-effective way to easily profile hundreds of gene transcripts, copy number variations, or miRNAs simultaneously with high sensitivity and precision. The companys technology enables a wide variety of basic research and translational medicine applications, including biomarker discovery and validation. NanoString is also developing the technology for use in molecular diagnostics.

The nCounter platform is for Research Use Only. Not for use in diagnostic procedures.

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NanoString Launches Single Cell Gene Expression Solution for its nCounter® Analysis System

Recommendation and review posted by Bethany Smith

By Peggy McCarthy, Conn. Health I-Team Writer

A recent study that discovered a genetic link to Post Traumatic Stress Disorder (PTSD) could ultimately lead to breakthroughs in treatment or prevention, but advances are at least a decade away because additional research is needed, according to the studys lead researcher.

Ultimately, there could be significant implications for the military where PTSD prevalence is estimated to be at least twice that of the general population because of severe trauma associated with combat duty.

Were onto something important, said Mark W. Miller, Ph.D, the researcher. Miller is a clinical research psychologist in Boston for the VAs National PTSD Center, and is an associate professor of psychiatry at Boston University School of Medicine. But he said studies with more participants that replicate his findings are needed before talking about policy implications or screening or anything like that.

Dr. Joel Gelernter, a Yale psychiatrist and chief of the VAs Molecular Genetics lab in West Haven, was not involved in this study, but does research on the genetics of PTSD. He said if the Boston study results are replicated in future research, it opens the possibility for much-needed, new drug development for treatment of PTSD.

Drug development is a very promising avenue for research if this line of evidence pans out, Gelernter said, adding that now, there is nothing really fantastic available to treat PTSD.

According to Miller, the study, which began in 2006, is the first of its kind for PTSD because it was genome-wide, which means it analyzed the entire genetic makeup of participants, giving researchers 1.5 million pieces of genetic data per person.

It was conducted by the Department of Veterans Affairs National Center for PTSD and the BU School of Medicine. Researchers interviewed and took DNA samples from about 500 participants comprised of veterans and their spouses or partners. All participants have experienced trauma, and about half have PTSD.

Participants with PTSD were found to share a variant of a gene known in scientific shorthand as RORA. The same variant had previously been linked to a range of other psychiatric conditions, including bipolar disorder, autism, depression and attention deficit hyperactivity disorder.

Patrick Bellon, executive director of the advocacy group, Veterans For Common Sense, said the study is significant for veterans. We are glad to see research that furthers our understanding and possible treatment options for PTSD, he said. This research is more important than ever with approximately 1 million new veterans returning to civilian life in the next five years. A complete understanding of this invisible wound of war, which afflicts at least 20 percent of veterans will be crucial to a successful transition for our service members.

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PTSD: Genetic link could lead to vet drug treatment

Recommendation and review posted by Bethany Smith

A sequencing study of breast-cancer-tumor genomes suggests that cancers should be categorized by their genetic heritage, rather than where they reside in the body

Visuals Unlimited, Inc./Anne Weston/Cancer Research UK / Getty Images

In recent years, scientists have come to appreciate that breast cancer is a complex disease, triggered by myriad genetic and lifestyle factors. But the latest study of the genetics behind the disease, published in the journal Nature, shows that it may actually be slightly simpler than researchers had thought.

As part of the Cancer Genome Atlas (TCGA), a government project that is aiming to sequence tumor genomes from dozens of different cancers to help scientists better understand tumor development and treatment, scientists sequenced 510 tumors from 507 patients with breast cancer. All told, they found 30,626 mutations in these cancer cells, but those aberrations fell into four main groups.

In one subtype, basal-like tumors that account for 10% of all breast cancers, the researchers found that the mutations resembled those found in ovarian cancers, thus explaining the link between the two diseases: women at higher risk of developing breast cancer are also more vulnerable to getting ovarian cancer.

(MORE: Cracking Cancers Code)

In two related subtypes, luminal A and luminal B, which include breast cancers that contain receptors for estrogen and progesterone, the scientists found that while the mutation rate in these cancers was lower, genetic aberrations occurred in a larger number of genes, suggesting that a more complex interaction of abnormal genes contribute to these types of breast cancer.

Teasing apart such connections will be critical for improving treatment for women with these mutations: those with luminal-A cancers generally have good outcomes, while those with luminal-B tumors have more mixed results. Isolating which mutations distinguish the two subtypes may help doctors treat women with luminal-B cancers in order to make them progress more like luminal-A cases, for example.

(MORE: Why Having a Large Baby May Raise Your Risk of Breast Cancer)

In the final subtype, which are those that contain the HER2 receptors, the scientists found two smaller subgroups of HER2 cancers, which could explain why some women respond better to HER2-specific therapies like Herceptin than others. The good responders may have tumors with mutations that make the HER2 receptors more active and therefore enriched, making those cells better targets for the drug than those without the mutations.

Read more:
Genetic Study Identifies Four Main Types of Breast Cancer

Recommendation and review posted by Bethany Smith

One of the most agonizing questions that parents of children with autism ask iswhy? Now, a growing number of genetic tests are providing some answers.

Scientists say that roughly 20 percent of autism cases can be linked to known genetic abnormalities, and many more may be discovered.

Pinpointing a genetic explanation can help predict whether siblings are likely to have the disorderand even point to new, targeted treatments. Last week, for example, researchers reported that an experimental drug, arbaclofen, reduced social withdrawal and challenging behaviors in children and adults with Fragile X syndrome, the single most common genetic cause of autism.

Related: Experimental drug to treat Fragile X syndrome shows promise

No single blood test or brain scan can diagnose autism spectrum disordersin part because environmental factors also play a major role. But once a child is diagnosed, on the basis of symptoms and behavioral tests, researchers can work backward looking for genetic causes.

Both the American Academy of Pediatrics and the American College of Medical Genetics recommend that all children diagnosed with ASD be tested for Fragile X Syndrome and other chromosome abnormalities. The newest tests, called chromosomal microanalysis, can identify submicroscopic deletions or duplications in DNA sequences known to be associated with autism. Together, these tests find genetic explanations for more than 10 percent of autism cases.

Experts estimate that 400 to 1,000 individual genes may play a role in the complex neurological issues involved in autism. Tests are proliferating that look for mutations in some of those genes, thanks to new technologies that let scientists sequence many genes at once.

Mount Sinai School of Medicine in New York City, for example, is offering a new blood test that examines 30 different genes for mutations known to be associated with autism or other developmental delays.

Some autism-related genetic disorders also carry a high risk of cancer, seizures, heart disease or other health problems, so knowing about them allows families and physicians to be vigilant for such issues.

Identifying genetic causes can also help families find support groups, research programs and potential treatments tailored to their child's specific needs. For example, one of the abnormalities Mount Sinai tests for is the SHANK3 mutation on chromosome 22. It causes an autism-spectrum disorder and Phelan-McDermid Syndrome, in which communication between nerve cells is disrupted, impairing learning and memory. Researchers at Mount Sinai found that an insulin-like growth factor could reverse that disruption in mice and are now testing it in children aged 5 to 17 with SHANK3 mutations.

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New tests indicate progress in identifying the genetic roots of autism

Recommendation and review posted by Bethany Smith

SAN FRANCISCOGenetic mapping of hundreds of breast cancer tumours confirmed there are four main subtypes and discovered that one closely resembles ovarian cancer, suggesting the two may be attacked with similar therapies.

The study, in which the genomes of 825 breast tumours were sequenced, was the most comprehensive of its type involving the disease. It is part of a U.S. research project into the genetics of 20 types of cancers. Earlier this month, the group, called the Cancer Genome Atlas project, released a similar report on new DNA mutations affecting a type of lung malignancy.

The breast cancer findings, published Sunday in the journal Nature, support the expanding medical view that cancers should be categorized by their genetic origins, rather than where theyre found on the body. The link found between breast and ovarian cancer gives scientists added leverage to compare treatments and outcomes across both tumours.

There are certain mutations you can find across cancers in different organs, said Eric Topol, a professor at the Scripps Research Institute in La Jolla, Calif., who was not involved in the research. This is a real transition point, and we have to move toward more sequencing to give patients the best shot toward curing their cancer.

The personalized medicine approach has fuelled a move among drugmakers to identify treatments targeting genetic mutations, such as Roche Holdings Zelboraf and Pfizers Xalkori.

For years, doctors have classified breast cancers according to measures such as how they invade other tissues, their cellular variability, and their appearance when stained with certain chemicals, said Paul Billings, a geneticist who is medical director Life Technologies Corp., a maker of DNA sequencers in Carlsbad, Calif.

Thats the old world, Billings said. The new world is a diagnostic system that will be based on targetable DNA mutations present in breast cancer.

In the breast cancer study, a computer analysis suggests the form known as basal-like, named for its resemblance to basal skin cells, may be treatable with drugs that either cut off the tumours blood supply or prevent blood vessel growth, or chemotherapy, according to a statement from the National Cancer Institute.

The new research backed up earlier work segmenting breast cancer into four groups according to genetic markers: HER2-enriched, Luminal A, Luminal B and basal-like.

More than 72 gene-based therapies are available already, five times as many as in 2006, according to the Personalized Medicine Coalition, an industry advocacy group based in Washington.

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Genetic study points to new breast cancer treatments

Recommendation and review posted by Bethany Smith

FOSTER CITY, Calif.--(BUSINESS WIRE)--

VitaPath Genetics, Inc., a privately held company leading the exploration of the Vitanome, the subset of information that lies within our genomes that plays a critical role in how we metabolize vitamins, today announced healthcare industry veteran Catherine Burzik has been appointed Chair of its Board of Directors.

Ms. Burzik is a seasoned senior executive in the healthcare industry who has led major medical device, diagnostic, diagnostic imaging and life sciences businesses. Most recently, she served as President, Chief Executive Officer and Director of Kinetic Concepts, Inc., a leading medical device company specializing in the fields of wound care and regenerative medicine. Previously, she was President of Applied Biosystems and held senior executive positions at Eastman Kodak and Johnson & Johnson. Ms. Burzik is currently Chair of the San Antonio Branch of the Dallas Federal Reserve Board; Chair of the Canisius College Board of Trustees; and member of the Board of Directors of InHealth and the Board of Trustees of Keck Graduate School of Applied Life Sciences. She founded and chairs the Catherine M. and Francis N. Burzik Foundation, a philanthropic organization focused on bolstering science, technology, engineering and mathematics programs in higher education.

I am honored to be named Chair of the VitaPath Board of Directors, said Ms. Burzik. One of the many great outcomes from the Human Genome Project has been the increased understanding of the complexity of individual genetic variation. VitaPaths goal is to identify how genetic variations in vitamin-responsive genes can lead to specific diseases and, importantly, how the effect of these variations can be mitigated through vitamin therapy. I look forward to working with the company to realize its full potential.

Dennis Gilbert, Ph.D., President, Chief Executive Officer and Founder of VitaPath commented: For 60 years, the recommended daily allowance of vitamins has remained essentially unchanged and homogenous across the population. Our research has shown that individual genetic differences can play a large and medically important role in many common conditions. The VitaPath approach has broad applicability across several hundred genes involved in vitamin metabolism that have been implicated in dozens of diseases. These conditions may be remediated with vitamin therapy, provided that the at-risk individuals can be identified through simple genetic tests.

Cathys deep experience and strategic vision will be a tremendous asset to us as we seek to develop our platform that can suggest vitamin-based therapeutic interventions based on an individuals genetic profile, added Dr. Gilbert.

The first test developed on VitaPaths platform identifies women at highest risk of having children with spina bifida which may be prevented by using prescription-dose folic acid before pregnancy. The test is expected to be offered in doctors offices in 2013.

For more information about VitaPath Genetics, please visit http://www.vpgenetics.com.

About VitaPath Genetics

VitaPath Genetics, Inc. has developed a platform for genomic-based tests that determine an individuals need for vitamin therapy in medically actionable conditions. Using its platform, VitaPath develops specific assays that test for the risk of vitamin-remediable diseases and that can help manage the use of $30 billion of supplements purchased in the U.S. each year. The first test developed by VitaPath measures genetic risk factors associated with spina bifida to identify women who would benefit from prescription-strength folic acid supplementation. VitaPath is privately held and has received investment from Mohr Davidow Ventures, X/Seed Capital Management and Alere Inc. The company is based in Foster City, California.

The rest is here:
Catherine Burzik Appointed Chair of VitaPath Genetics Board of Directors

Recommendation and review posted by Bethany Smith

CAMBRIDGE, Mass. & BOTHELL, Wash.--(BUSINESS WIRE)--

Seattle Genetics, Inc. (SGEN) and Millennium: The Takeda Oncology Company, a wholly owned subsidiary of Takeda Pharmaceutical Company Limited (TSE:4502), today announced the completion of patient enrollment in a phase III clinical trial of ADCETRIS (brentuximab vedotin) for post-transplant Hodgkin lymphoma (HL) patients. The phase III trial, also known as the AETHERA trial, is evaluating ADCETRIS versus placebo for the treatment of patients at high risk of residual Hodgkin lymphoma following autologous stem cell transplant (ASCT). ADCETRIS is an antibody-drug conjugate (ADC) directed to CD30, a defining marker of classical HL.

We are pleased to complete the enrollment of this important phase III trial, evaluating the use of ADCETRIS for Hodgkin lymphoma patients who are at high risk of residual disease following an ASCT, said Thomas C. Reynolds, M.D., Ph.D., Chief Medical Officer of Seattle Genetics. The AETHERA trial is designed to provide the medical community with valuable insight into the potential for ADCETRIS to consolidate responses in Hodgkin lymphoma patients following a transplant, and will be the first data on the use of ADCETRIS in a maintenance-type setting. We anticipate data from this trial will be available in late 2013 or early 2014.

Completing enrollment of the AETHERA trial in the post-transplant Hodgkin lymphoma patient population at high risk for residual disease is a significant milestone for our ADCETRIS clinical development program, said Karen Ferrante, M.D., Chief Medical Officer, Millennium. We look forward to continuing to work with our partner Seattle Genetics to determine the potential benefit of this targeted treatment in other CD30-expressing tumors.

The AETHERA trial is a randomized, double-blind, placebo-controlled phase III study, comparing progression-free survival in 329 post-ASCT patients receiving ADCETRIS to those receiving placebo. Patients must be at high risk for residual HL, defined as those with a history of refractory HL, those who relapse or progress within one year from receiving front-line chemotherapy and/or those who have disease outside of the lymph nodes at the time of pre-ASCT relapse. Secondary endpoints of the trial include overall survival, safety and tolerability. Patients receive ADCETRIS every three weeks for up to approximately one year. This international multi-center trial is being conducted in the United States, Europe and Russia.

About ADCETRIS

ADCETRIS (brentuximab vedotin) is an ADC comprising an anti-CD30 monoclonal antibody attached by a protease-cleavable linker to a microtubule disrupting agent, monomethyl auristatin E (MMAE), utilizing Seattle Genetics proprietary technology. The ADC employs a linker system that is designed to be stable in the bloodstream but to release MMAE upon internalization into CD30-expressing tumor cells.

ADCETRIS received accelerated approval from the U.S. Food and Drug Administration (FDA) for two indications: (1) the treatment of patients with Hodgkin lymphoma after failure of autologous stem cell transplant (ASCT) or after failure of at least two prior multi-agent chemotherapy regimens in patients who are not ASCT candidates, and (2) the treatment of patients with systemic anaplastic large cell lymphoma (sALCL) after failure of at least one prior multi-agent chemotherapy regimen. The indications for ADCETRIS are based on response rate. There are no data available demonstrating improvement in patient-reported outcomes or survival with ADCETRIS.

ADCETRIS is not approved for use outside the United States. The marketing authorization application for ADCETRIS in relapsed or refractory Hodgkin lymphoma and sALCL, filed by Takeda Global Research & Development Centre (Europe), was accepted for review by the European Medicines Agency (EMA) in June 2011. In July 2012, the Committee for Medicinal Products for Human Use (CHMP) of the EMA issued a positive opinion for the conditional approval of ADCETRIS, supporting an approval decision in the European Union.

Seattle Genetics and Millennium are jointly developing ADCETRIS. Under the terms of the collaboration agreement, Seattle Genetics has U.S. and Canadian commercialization rights and the Takeda Group has rights to commercialize ADCETRIS in the rest of the world. Seattle Genetics and the Takeda Group are funding joint development costs for ADCETRIS on a 50:50 basis, except in Japan where the Takeda Group will be solely responsible for development costs.

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Seattle Genetics and Millennium Complete Enrollment in Phase III AETHERA Trial of ADCETRIS® for Post-Transplant ...

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(SACRAMENTO, Calif.) - Deborah K. Lieu, a stem cell scientist in cardiovascular medicine at UC Davis Health System, has received a $1.3 million research grant from the California Institute for Regenerative Medicine (CIRM) to develop stem cells that could serve as a biological alternative to the electronic pacemakers that people now use to regulate heart rhythm.

According to Lieu, each year 350,000 cardiology patients with abnormal heart rhythms receive electronic pacemakers to maintain a normal heart beat. The devices, while effective, have several disadvantages, including limited battery life and poor response to changing heart rates, such as when a person is exercising. Lieu, who is working with colleague Nipavan Chiamvimonvat, the Roger Tatarian Endowed Professor of Cardiovascular Medicine at UC Davis, plans to examine ways to improve the generation of pacemaking cells using human-induced pluripotent stem cells (hiPSCs), potentially creating what she calls a "biopacemaker."

"There are more than 3 million patients around the country who are dependent on electronic pacemakers," said Lieu. "Each one costs about $58,000 to implant and requires follow-up surgery about every 5 to 10 years to change batteries. Creating a biopacemaker from stem cells would avoid the burden of battery replacement and provide the physiological benefit of enabling a person's heart to naturally adapt to a rising heart rate during activities such as exercise."

Lieu's grant was among more than two dozen projects that received support from state stem cell agency's governing board last week as part of CIRM's Basic Biology awards program. The funding focuses on basic research projects that can provide a better understanding about the fundamental mechanisms of stem cell biology and move researchers closer to knowing how best to use stem cells to help patients.

To create the pacemaking cells, Lieu and her colleagues plan to manipulate an ion channel (the SK channels in cardiac myocytes) to alter the calcium signaling mechanisms during hiPSC differentiation. Stem cell scientists create hiPSCs - typically from an adult cell such as a skin cell - by inducing a "forced" expression of specific genes. Once reprogrammed, the cells take on a variety of capabilities (becoming pluripotent) and offer a range of stem cell treatment possibilities.

Development of a biopacemaker could also benefit the one-in-20,000 infants and premature babies suffering from congenital heart-rhythm dysfunction who currently are not suitable candidates for electronic pacemakers. Infants are physically too small for the device. A biological pacemaker could fit with their small stature and then grow as the infant grows.

Collaborating with Lieu and Chiamvimonvat on the research project will be Jan Nolta, director of the UC Davis Institute for Regenerative Cures; Donald Bers, chair of the UC Davis Department of Pharmacology; and James Chan, assistant professor in the Department of Pathology and affiliated with the NSF Center for Biophotonics Science and Technology at UC Davis.

UC Davis is playing a leading role in regenerative medicine, with nearly 150 scientists working on a variety of stem cell-related research projects at campus locations in both Davis and Sacramento. The UC Davis Institute for Regenerative Cures, a facility supported by the California Institute for Regenerative Medicine (CIRM), opened in 2010 on the Sacramento campus. This $62 million facility is the university's hub for stem cell science. It includes Northern California's largest academic Good Manufacturing Practice laboratory, with state-of-the-art equipment and manufacturing rooms for cellular and gene therapies. UC Davis also has a Translational Human Embryonic Stem Cell Shared Research Facility in Davis and a collaborative partnership with the Institute for Pediatric Regenerative Medicine at Shriners Hospital for Children Northern California. All of the programs and facilities complement the university's Clinical and Translational Science Center, and focus on turning stem cells into cures. For more information, visit http://www.ucdmc.ucdavis.edu/stemcellresearch.

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Pacemaker from Stem Cells Receives Research Funding

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NEWTON, MA--(Marketwire - Sep 24, 2012) - Recombinant, a provider of data warehousing and clinical intelligence solutions for healthcare performance management, personalized medicine and translational research, will deliver two presentations with client executives from the Northern New England Accountable Care Collaborative (NNEACC) and UCLA Health System at the 20th Annual College of Healthcare Information Management Executives (CHIME) Fall CIO Forum, October 16 - 19 in Indian Wells, CA. Sessions include managing information within an Accountable Care Organization (ACO) model and capitalizing on big data assets. The presentations are part of the Organizational Performance and Emerging Issues in Healthcare and Health Information Technology tracks, respectively. Recombinant is a CHIME Foundation member.

Healthcare Data-as-a-Service for Big Data Challenges

Virginia McFerran, CIO, UCLA Health System, and Jason Oliveira, Managing Director, Health System Consulting, Recombinant, will present "Healthcare Data-as-a-Service for our Big Data Challenges" on Wednesday, October 17 from 11:15 a.m. - 12 p.m. The session will recount the journey of UCLA Health System and its academic partners in strategizing, designing and establishing its xDR data-as-a-service architecture, including best practices and lessons learned.

"Emerging data sources such as EHRs, HIEs, patient portals, and the increasing availability of genomics and proteomics information are pushing health systems into the reality of having to manage massive amounts of data. As more health systems pursue secondary uses of data many quickly realize that they lack an enterprise data management strategy to efficiently exploit their big data assets," said Oliveira. "Virginia and I will help attendees gain a deeper understanding of what managing 'big data' means in terms of new information technology requirements, and what emerging approaches are being taken by the industry by focusing on the experience of our client, UCLA Health System."

Defining and Meeting the Core Data Requirements of ACOs

David Wennberg MD, MPH, Chief Executive Officer, NNEACC, and Mark Golberg, Managing Director, Healthcare Provider ACO, Recombinant will present "Defining and Meeting the Core Data Requirements of ACOs" on Thursday, October 18 from 11:15 a.m. - 12 p.m.

"ACOs cannot deliver on the promise of improving healthcare delivery and patient outcomes and reducing cost without the ability to identify, prioritize, access, and integrate data from internal and external clinical, claims, financial and other critical systems," said Golberg. "The scope, reliability and timeliness of data, in turn, impact downstream applications including knowledge management, decision support, business intelligence, and advanced analytics systems. Dr. Wennberg and I will discuss key issues of ACO data and information management and practical trade-offs often required in ACO network development based on our experience with NNEACC."

"The CHIME Fall CIO Forums combine the best speakers and healthcare IT educators in the nation with unparalleled opportunities for CIOs and healthcare IT executives to network with their peers and collectively share solutions, solve problems and address challenges," said Peter Emerson, Chief Executive Officer, Recombinant. "We are pleased to join with our clients the Northern New England Accountable Care Collaborative and UCLA Health System to share our pragmatic experience and expertise at the 20th CIO Fall Forum."

About Recombinant

Recombinant provides leading-edge data warehousing and clinical intelligence solutions to healthcare providers, academic medical centers and life science researchers to deliver higher quality outcomes, accelerate personalized medicine, and lower costs. Our team of industry veterans is focused on improving the flow of reliable data to power clinical and research applications in a secure, compliant environment. For more information about Recombinant's products and services, visit http://www.recomdata.com.

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Recombinant to Address ACO Data Management and Big Data Opportunities in Healthcare at CHIME12 Fall CIO Forum

Recommendation and review posted by sam

NEW YORK, Sept. 24, 2012 /PRNewswire/ --Reportlinker.com announces that a new market research report is available in its catalogue:

Competitive Handbook towards Personalized Medicine in Prostate Cancer

http://www.reportlinker.com/p0980851/Competitive-Handbook-towards-Personalized-Medicine-in-Prostate-Cancer.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Drug_and_Medication

Personalized medicine is very much about fitting target profiles of drugs towards disease mechanism(s). This report is a new and unique way of stratifying and analyzing the global prostate cancer pipeline towards personalized medicine and presents actionable analysis which allows you to discover:

* Where the competition is; Which targets, compound types and companies are setting the path?

* How much R&D effort has gone towards different targets and what is known about the target?

* Which pathways are targeted, by what and how?

* What is truly new and unique in the prostate cancer pipeline?

* How new and unique your target strategy really is

* What overlapping competition you have from other companies and compound types towards your therapeutic targets

Follow this link:
Competitive Handbook towards Personalized Medicine in Prostate Cancer

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VEGA -- On Fri., Sept. 28, during the halftime show of the Vega High School football game vs. Sunray High School, Gridiron Heroes Spinal Cord Injury Foundation will present a wheelchair-accessible van to Luis Morales.

Morales, played for the Vega High School football team and is currently a student, suffered a spinal cord injury during a game in September 2011.

Friday's game starts at 7:30 p.m. at Vega High Schools Longhorn Field.

This will be the first wheelchair-accessible vehicle the Morales family has used since his injury. The handicapped-accessible van is the eighth that Gridiron Heroes has donated in nine years to high school football players who have sustained a spinal cord injury during a game. The van will be driven out on the field during the halftime show, followed by a special presentation to the Morales family.

Gridiron Heroes is a non-profit organization that supports individuals who have sustained catastrophic spinal cord injuries on the football field. The organization also works to educate about the importance of player safety. For more information about Gridiron Heroes and all of its heroes on and off the field, visit http://www.gridironheroes.org.

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SUNDAY, Sept. 23 (HealthDay News) -- A comprehensive look at the genetic blueprint of breast cancer has revealed new insights into the disease -- including the discovery that certain breast and ovarian tumors may be closely related.

Basal-like breast tumors -- one of the most deadly subtypes of breast cancer -- are genetically more similar to ovarian cancer than to other breast cancers, the new research found.

In this study, the scientists used six different technologies to analyze 348 tumors from women with breast cancer. They looked for defects in DNA, RNA and proteins in the tumors.

They confirmed the existence of four main subtypes of breast cancer -- luminol A, luminal B, HER2 and basal-like -- and found unique genetic and molecular signatures within each of the subtypes.

The findings add to growing evidence suggesting that tumors should be catalogued and treated based on the genes that are disrupted rather than their location in the body, the researchers said.

"With this study, we're one giant step closer to understanding the genetic origins of the four major subtypes of breast cancer," study co-leader Dr. Matthew Ellis, chair of medical oncology at Washington University School of Medicine in St. Louis, said in a university news release.

One oncologist said the findings on breast cancer's diversity echo her own experience in treating patients.

"The diversity of breast cancer is instinctual to a practicing breast surgeon who has seen women with breast cancer, presumably the same stage, have differing outcomes with respect to recurrence and survival," said Dr. Donna-Marie Manasseh, director of breast surgery at the Maimonides Breast Cancer Center in New York City. "This research validates what we have suspected."

According to Ellis, the new study suggests that most basal-like breast tumors and ovarian tumors have similar genetic origins and potentially could be treated with the same drugs.

Basal-like tumors account for about 10 percent of all breast cancers and disproportionately affect younger and black women in the United States. Basal-like tumors include most triple-negative breast tumors, which are often aggressive and do not respond to therapies that target hormone receptors or to standard chemotherapies.

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Gene study yields new clues to breast cancer

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September 24, 2012

Lee Rannals for redOrbit.com Your Universe Online

A new study has confirmed a link between sugary sodas, and genetic susceptibility to high body mass index (BMI) and increased risk of obesity.

The team wrote in the New England Journal of Medicine that their findings reinforce the view that environmental and genetic factors shape obesity risk.

Our study for the first time provides reproducible evidence from three prospective cohorts to show genetic and dietary factorssugar-sweetened beveragesmay mutually influence their effects on body weight and obesity risk, Lu Qi, assistant professor in the Department of Nutrition at Harvard School of Public Health (HSPH) and senior author of the study, said in a press release.

Consuming sugary drinks in the past three decades has increased worldwide, and there has been little research on whether environmental factors like drinking these drinks can influence genetic predisposition.

For the study, the team used data from 121,700 women in the Nurses Health Study (NHS), 51,529 men in the Health Professionals Follow-up Study (HPFS), and 25,000 in the Womens Genome Health Study (WGHS).

All of the participants in the research had completed food-frequency questionnaires detailing their food and drink consumption.

The team analyzed data from 6,934 women from NHS, 4,423 men from HPFS, and 21,740 women from WGHS who were of European ancestry.

Participants were divided into four groups depending on how many sugar drinks they consumed. The groups were broken up into those who consumed less than one serving of a sugar beverage a month, between one to four servings per month, between 2 to six servings per week, and one or more servings per day.

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Sugary Sodas Lead To An Increased Risk Of Obesity

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Newswise STONY BROOK, N.Y., September 24, 2012 Benjamin J. Luft, M.D., Edmund D. Pellegrino Professor of Medicine at Stony Brook University School of Medicine, and Medical Director of the Long Island Clinical Center of Excellence (LI-CCE), part of the World Trade Center Health Program, and colleagues, have received a two-year $1 million grant from the WTC Health Program, which is administered by the National Institute for Occupational Safety and Health (NIOSH), to study the role genetics may play after exposure to environmental toxins in the development of post-traumatic stress disorder (PTSD) and respiratory illness in 9/11 WTC responders. Approximately 10 percent of 9/11 responders treated at WTC Health Programs suffer from both conditions.

The Epigenetics Link of PTSD and Respiratory Disease in 9/11 Responders study is the first to investigate the association between genetic changes and the development of both conditions in the 9/11 responder patient population. Approximately 500 patients treated at the LI-CCE for both conditions will be evaluated during the two-year study.

Numerous studies have linked PTSD with physical illnesses, illustrating the integral association between mental health and physical disease. For example, in 2011 Dr. Luft and Evelyn Bromet, PhD, Distinguished Professor, Department of Psychiatry and Behavioral Science, Stony Brook University School of Medicine, published their study results finding a relationship between PTSD and respiratory illness in WTC responders in Psychological Medicine. Now Drs. Luft and Bromet, along with co-investigators at Columbia University and Stony Brook, seek to understand how these two comorbid health problems afflicting WTC responders are linked biologically.

Our analyses of biological mechanisms will lead to hypotheses as to when and how to intervene with responders suffering from both conditions, as well as provide the data necessary to develop a foundation for a new generation of diagnostic tests, says Dr. Luft, Principal Investigator of the study. An environmental exposure of such magnitude as experienced by the responders may affect the genome of each individual, and over time some of these genomic changes may trigger the turning on or off of certain genes that are implicated in diseases such as cancer, respiratory conditions and PTSD.

Dr. Luft and colleagues will identify biomarkers in individuals by using methods in epigenetics, the study of changes in the human genome from environmental and other outside exposures. The research team will take blood DNA samples from responders to determine methylation patterns, a chemical process contributing to changes in DNA as a result of exposures. By defining the patterns, they hope to uncover biological mechanisms that can help to genetically characterize pathways linking PTSD and respiratory illness in patients.

The study will include genetic tests to determine and compare methylation patterns of DNA in patients with WTC-PTSD, patients who never developed PTSD, and a non-traumatized healthy control group. In addition, the research team will compare the test results of patients with chronic WTC-PTSD and those with PTSD in remission.

Dr. Luft explains that the importance of the research goes beyond finding the genetic changes leading to the development of both PTSD and respiratory illness in responders.

Not only are a large portion of our men and women responders suffering from both conditions, but this type of mental/physical comorbidity has been shown to lead to increased disability and decreased quality of life. This is a detriment to their long-term health and adds to the multiple medical services these patients already need.

When conducting research on the health of WTC responders, medical researchers are required by a mandate within the Zadroga Act to investigate conditions that amplify the effects of the disaster on responders health status.

NIOSH has previously supported Dr. Lufts research team investigating the relationship between psychological and physical illnesses in responders, initially with grants during 2011 and 2012 totaling $3 million. The new grant brings total NIOSH support to $4 million. ###

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Study Explores Genetic Link Between PTSD and Respiratory Illness in 9/11 Responders

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Public release date: 24-Sep-2012 [ | E-mail | Share ]

Contact: Katherine Barnes katherine.barnes@kcl.ac.uk 44-207-848-3076 King's College London

Researchers at King's College London have for the first time identified a gene linked to age-related degeneration of the intervertebral discs in the spine, a common cause of lower back pain.

Costing the UK an estimated 7billion a year due to sickness leave and treatment costs, the causes of back pain are not yet fully understood. Until now, the genetic cause of lower back pain associated with lumbar disc degeneration (LDD) was unknown, but the largest study to date, published this week in the journal Annals of Rheumatic Diseases, has revealed an association with the PARK2 gene.

The researchers, funded by the Wellcome Trust and Arthritis Research UK, say more research into this surprising association needs to be carried out in order to fully understand how it is triggered, but this new finding could ultimately pave the way towards developing new treatments in the future.

LDD is a common age-related trait, with over a third of middle-aged women having at least one degenerate disc in the spine. Discs become dehydrated, lose height and the vertebrae next to the discs develop bony growths called osteophytes. These changes can cause or contribute to lower back pain. LDD is inherited in between 65 80 per cent of people with the condition, suggesting that genes play a key role.

Scientists compared MRI images of the spine in 4,600 individuals with genome-wide association data, which mapped the genes of all the volunteers. They identified that the gene PARK2 was implicated in people with degenerate discs and could affect the speed at which they deteriorate.

The researchers say the results show that the gene may be switched off in people with LDD. Although it is still unclear how this might happen, it is thought that environmental factors, such as lifestyle and diet, could trigger this switch by making changes known as epigenetic modifications to the gene.

Dr Frances Williams, Senior Lecturer from the Department of Twin Research and Genetic Epidemiology at King's College London, said: "Back pain can have a serious impact on people's lives and is one of the most common causes of sickness leave, costing both the NHS and UK economy billions each year.

"We have performed, using data collected from around the world, the biggest genome-wide association analysis of lumbar disc degeneration (LDD). We know that people whose discs wear out are at increased risk of episodes of lower back pain, but normal human discs are hard to get hold of to study so until now our knowledge of normal human biology was incomplete.

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New back pain gene identified in largest genetic study of its kind

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Newswise (TORONTO, Canada Sept. 23, 2012) Cancer researchers studying 44 known genetic variants associated with breast cancer have found the way to identify why they increase cancer risk, opening the door to future therapeutic applications based on personalized medicine.

The findings, published online today ahead of print in Nature Genetics, (http://dx.doi.org/10.1038/NG.2416) fill a gap that will expand the reach of genetic profiling beyond merely screening, says principal investigator Dr. Mathieu Lupien, a scientist at Ontario Cancer Institute, the research arm of the Princess Margaret Cancer Centre at University Health Network. Dr. Lupien, who specializes in epigenetics in cancer, is also an Assistant Professor in the Department of Medical Biophysics, University of Toronto.

Our work has identified the mechanisms altered by genetic risk variants in regions believed for a long time to be junk DNA; that is, DNA outside the genes with no known function until now. This moves us one step closer to translating genetic profiling into patient care and advancing personalized cancer medicine, says Dr. Lupien.

We discovered that genetic variants promoting breast cancer are found in elements with a regulatory role that modulate genes expression, he says. The team discovered the changes affecting the activity of two well known drivers of breast cancer the estrogen receptor ESR1 and the transcription factor FOXA1 that work together in breast cancer cells. Dr. Lupien talks about this research at https://vimeo.com/49570739 .

Dr. Lupien and co-investigator Dr. Jason Moore, a computational biologist at Dartmouth Medical School in Lebanon, New Hampshire, developed a methodology that identified the target of genetic predisposition by merging existing maps of the genome one cataloguing predisposition to breast cancer and others annotating the functional components from breast cancer cells.

The pattern emerged revealing why genetic variants can promote breast cancer says Dr. Lupien. The beauty is that our methodology can be applied to any disease with known genetic predispositions. We anticipate it will be of broad benefit to other research.

The study was funded by the National Institutes for Health, the American Cancer Society, the National Cancer Institute and The Princess Margaret Hospital Foundation.

About the Princess Margaret Cancer Centre, University Health Network The Princess Margaret Cancer Centre and its research arm, Ontario Cancer Institute, have achieved an international reputation as global leaders in the fight against cancer and delivering personalized cancer medicine. The Princess Margaret, one of the top five international cancer research centres, is a member of University Health Network, which also includes Toronto General Hospital, Toronto Western Hospital and Toronto Rehabilitation Institute. All are research hospitals affiliated with the University of Toronto. For more information, go to http://www.theprincessmargaret.ca

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Cancer Researchers Show Why Genetic Risks Promote Breast Cancer

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A new study on the genomics of breast cancer confirms that there are four distinct genetic types of the disease, suggesting that some drugs already used to treat cancer in other parts of the body could possibly be used to treat certain forms of breast cancer that share the same genetic abnormalities.

The researchers, whose findings were published Sunday in the journal Nature, studied the DNA of breast cancer tumors of 825 patients at various stages of the disease, and found that the disease could be stratified into four major genetic categories.

The study, a collaborative effort between 348 researchers, is part of a larger project known as the Cancer Genome Atlas, which is mapping the genetic changes in 20 cancers, including breast cancer. The new study, part of the largest breast cancer genomic project, offers the largest pool of data for researchers who have known for decades that there were genetic subtypes of breast cancer.

"This again reconfirms on a larger scale the heterogeneity that exists between each patient's breast cancer," said Dr. Ben Park, associate professor of oncology at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins. Park was not involved in the study.

The genetic analysis not only included a comprehensive look at the inherited basis for the cancers but also examined how proteins expressed within the genes affected the type of cancers that were classified.

BSIP/UIG Via Getty Images

"We now understand the recoding of the genome that is behind [these cancers]," said Dr. Matthew Ellis, a professor of medicine at Washington University in St. Louis, and a researcher on the study. The Cancer Genome Atlas work "lays the foundation for a new and much more informed approach to developing cures for all our patients," he said.

In particular, researchers found that one type of the disease, more commonly known as triple negative breast cancer, genetically resembles a form of ovarian cancer that is currently treatable. Triple negative breast cancer is an aggressive and deadly form of the disease that responds to chemotherapy but has high rates of relapse.

But clinicians caution that it will take years for these initial genetic findings to change the course of treatment for breast cancer, which is expected to kill nearly 40,000 women in 2012, according to the American Cancer Society.

"You would need to treat a large number of patients with this profile to see whether the hypothesis works," said Dr. Jay Brooks, chairman of the department of hematology and oncology at Ochsner Clinic Foundation and Hospital in Baton Rouge, La. Brooks was not affiliated with the study.

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4 Genetic Types of Breast Cancer

Recommendation and review posted by Bethany Smith

ScienceDaily (Sep. 24, 2012) A new discovery that sheds light on the genetic make up of ovarian cancer cells could explain why some women survive longer than others with this deadly disease. A multi-disciplinary team led by the Research Institute of the McGill University Health Centre (RI MUHC), in collaboration with the Lady Davis Institute of the Jewish General Hospital and the University of Montreal Hospital Research Centre, has identified genetic patterns in ovarian cancer tumours that help to differentiate patients based on the length of their survival after initial surgery.

The study was published in the journal PLOS ONE.

"We discovered genetic differences in the tumours from ovarian cancer patients that relate to their short-term and overall response to standard treatment," explained Dr. Patricia Tonin, the study's lead author and a cancer researcher at the RI MUHC and Associate Professor of the Department of Medicine at McGill University. "Using these genetic 'tools' to examine the tumours removed in the initial surgery, we may be able to offer alternative therapeutic options to women to improve their outcome."

Each year 2,000 new cases of ovarian cancer are reported in Canada, and in 75 per cent of these cases the women die less than five years after their diagnosis. This study focused on the genetic analysis of high grade serous ovarian carcinomas (HGSC) in women from Quebec -- the deadliest type of ovarian cancer which accounts for 90 per cent of deaths.

Almost all women with HGSC have mutations in the gene TP53, which is responsible for making the p53 protein. This gene is known as the "guardian of the genome" because of its role in regulating cell division and thus preventing cancer. Scientists already knew there were two different types of tumours, some with TP53 mutations that produce a mutant p53 protein and others without.

By uncovering the existence of genetic differences between the two types of HGSCs, the study reinforces the idea that there are biological differences in these cancers that can be related to the nature of the TP53 mutation and differences in genetic markers. The research team also confirmed that patient survival was longer in cases with the mutant p53 protein, compared to those that without the mutant protein.

"Biology is showing us which direction to take," enthused Dr. Tonin. "This unique finding paves the way for identifying the pathways involved in cancer progression, leading to the development of alternative therapies and therefore helping to reduce morbidity and mortality in women fighting the disease."

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Treating ovarian cancer: New pathways through genetics

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STOCKHOLM, September 24, 2012 /PRNewswire/ --

As our knowledge of genetics and genomics steadily expands and the potential applications of this understanding multiply, it becomes more and more urgent to address the societal implications of these developments. At a unique gathering in Stockholm on 9 December 2012, Nobel Laureates, prominent scientists, key policy makers and opinion leaders will review the current and future prospects for areas such as personalised medicine, genetically modified organisms and human evolution. With the theme of"The Genetic Revolution and its Impact on Society", this free public conference calledNobel Week Dialogue, will be devoted to reviewing the past 50 years of progress in genetics and genomics and looking towards current and future trends.

Key Topics and Participants

What have the last 50 years of progress in genetics taught us about what to expect in the future?

Can healthcare systems adapt to take advantage of the potential of personalized medicine?

How well do we understand how to manipulate gene expression and what are the consequences of this understanding?

These are some of the questions which will be discussed in a series of thought-provoking sessions and working groups. Participating Nobel Laureates include Bruce Beutler (2011), Steven Chu (1997), Joseph Goldstein (1985), Craig Mello (2006), Daniel McFadden (2000), Christiane Nsslein-Volhard (1995) and James Watson (1962). The 2012 Nobel Laureates will also be invited to attend.

Bruce Beutler, 2011 Nobel Laureate in Medicine says, "The information required to make a complex organism, such as a living person, resides within a few picograms of DNA in the nucleus of every cell. And much of what befalls us as individuals, for better or worse, is at least strongly influenced, if not foretold outright, by this subtle essence. A bit over 50 years ago, we began to understand how the information carried in DNA might be interpreted. Our understanding has grown quite sophisticated, and particularly in recent years, our ability to access DNA sequence has grown enormously. It is a good moment to count our gains, to explain them as best we can, and to consider what new barriers must be overcome."

Helga Nowotny, President of the European Research Council says, "The question before us is how to share the spectacular developments in the life sciences with wider society. Sharing is more than communicating. It means creating common ground that, even if contested, can also reassure and create trust. One often neglected instrument to achieve common ground is the law. It functions to stabilize relations between humans and their mutual expectations, although the objects to be mediated are biological entities or assemblages.I am glad to see that the upcoming event will provide an opportunity to discuss the social and legal issues around genetics."

Some of the experts include Mary-Claire King, President of the American Society of Human Genetics, Eric Lander, founder of the Broad Institute of Harvard and MIT, John Dupr, Director of the ESRC Centre for Genomics in Society and Janet Woodcock, Director of the Center for Drug Evaluation and Research at the Food and Drug Administration. For a complete list of participants, see: http://www.nobelweekdialogue.org/participants/

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Nobel Laureates and Experts Gather to Discuss Genetics and Society

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