15 September 2013 Last updated at 20:11 ET By James Gallagher Health and science reporter, BBC News A blood test that may improve treatment for children born with congenital cataracts has been developed by researchers in Manchester. It analyses every known mutation in the DNA which can cause the condition. The team, which is presenting the test at the British Society for Genetic Medicine, hope it will spread up diagnosis and help decide the best treatment. The charity RNIB described the test as a "welcome step forward". About 200 children are born with cataracts in the UK each year. "Diagnosing a congenital cataract is very easy at birth, but diagnosing the cause takes considerably longer," Prof Graeme Black, from the University of Manchester, said. The problem is there are more than 100 different mutations in a child's DNA which have been linked to congenital cataracts. "If you have a child with no family history then finding the cause can take months or years," he told the BBC. A complete diagnosis can help doctors work out the best course of treatment, inform families on the risks of cataracts if they have more children or diagnose severe diseases which have cataracts as … Continue reading →

Newswise Cancer tumors almost never share the exact same genetic mutations, a fact that has confounded scientific efforts to better categorize cancer types and develop more targeted, effective treatments. In a paper published in the September 15 advanced online edition of Nature Methods, researchers at the University of California, San Diego propose a new approach called network-based stratification (NBS), which identifies cancer subtypes not by the singular mutations of individual patients, but by how those mutations affect shared genetic networks or systems. Subtyping is the most basic step toward the goal of personalized medicine, said principal investigator Trey Ideker, PhD, division chief of genetics in the UC San Diego School of Medicine and a professor in the departments of Medicine and Bioengineering at UC San Diego. Based on patient data, patients are placed into subtypes with associated treatments. For example, one subtype of cancer is known to respond well to drug A, but not drug B. Without subtyping, every patient looks the same by definition, and you have no idea how to treat them differently. Recent advances in knowledge and technology have made it easier (and less expensive) to sequence individual genomes, especially in the treatment of cancer, which is … Continue reading →

LONDON: Scientists have developed a comprehensive map that can help point the genetic causes of differences between people, providing powerful clues for diagnosis, prognosis and intervention of different diseases. The study led by researchers from the University of Geneva (UNIGE)'s Faculty of Medicine, offers the largest-ever dataset linking human genomes to gene activity at the level of RNA. Understanding how each person's unique genome makes them more or less susceptible to disease is one of the biggest challenges in science today, researchers said. Geneticists study how different genetic profiles affect how certain genes are turned on or off in different people, which could be the cause of a number of genetic disorders. The study conducted by over 50 scientists from nine European institutes, measured gene activity (gene expression) by sequencing RNA in human cells from 462 individuals. The study adds a functional interpretation to the most important catalogue of human genomes. "The richness of genetic variation that affects the regulation of most of our genes surprised us," said study coordinator Tuuli Lappalainen. "It is important that we figure out the general laws of how the human genome works, rather than just delving into individual genes," said Lappalainen. The biological discovery … Continue reading →

Washington, Sept 16 (ANI): European scientists have created a map that points to the genetic causes of differences between people. The study, led by researchers from the University of Geneva (UNIGE)'s Faculty of Medicine in the context of the GEUVADIS project, offers the largest-ever dataset linking human genomes to gene activity at the level of RNA. Understanding how each person's unique genome makes them more or less susceptible to disease is one of the biggest challenges in science today. Geneticists study how different genetic profiles affect how certain genes are turned on or off in different people, which could be the cause of a number of genetic disorders. This study adds a functional interpretation to the most important catalogue of human genomes. "The richness of genetic variation that affects the regulation of most of our genes surprised us," study coordinator Tuuli Lappalainen, previously at UNIGE and now at Stanford University, said. "It is important that we figure out the general laws of how the human genome works, rather than just delving into individual genes," Lappalainen added. Knowing which genetic variants are responsible for differences in gene activity among individuals can give powerful clues for diagnosis, prognosis and intervention of different … Continue reading →

ATLANTA, Sept. 16, 2013 /PRNewswire/ -- Fighting hereditary disease among Jews is the aim of a multi-state public health initiative launched today, called JScreen. The JScreen program (www.jscreen.org), managed by Emory University School of Medicine's Department of Human Genetics, provides at-home genetic screening and private counseling for people with Jewish lineage to determine their risk for hereditary diseases that could be passed to their children. Today's geneticists have identified genetic markers for 19 genetic diseases that are more common in the Jewish-Ashkenazi community, including Tay-Sachs and Canavan disease. The carriers are healthy but they can pass the diseases along to their children. Couples who are both carriers can risk unknowingly having children with one of these diseases. JScreen also offers an expanded panel, useful for couples of mixed descent and interfaith couples, which screens for a total of 80 diseases. "By leveraging advances in genetic testing and online education that allow people to be screened in the comfort of their homes, we are removing barriers to allow more people to be screened," said Patricia Zartman Page, JScreen senior director at the Emory School of Medicine's Department of Human Genetics. JScreen makes testing for common genetic diseases simple - providing an … Continue reading →

Public release date: 15-Sep-2013 [ | E-mail | Share ] Contact: Emmanouil Dermitzakis emmanouil.dermitzakis@unige.ch 41-788-827-922 Universit de Genve European scientists, led by researchers from the University of Geneva (UNIGE)'s Faculty of Medicine in the context of the GEUVADIS project, today present a map that points to the genetic causes of differences between people. The study, published in Nature and Nature Biotechnology, offers the largest-ever dataset linking human genomes to gene activity at the level of RNA. Understanding how each person's unique genome makes them more or less susceptible to disease is one of the biggest challenges in science today. Geneticists study how different genetic profiles affect how certain genes are turned on or off in different people, which could be the cause of a number of genetic disorders. Largest-ever human RNA sequencing study Today's study, conducted by over 50 scientists from nine European institutes, measured gene activity (i.e. gene expression) by sequencing RNA in human cells from 462 individuals, whose full genome sequences had already been published as part of the 1000 Genomes Project. This study adds a functional interpretation to the most important catalogue of human genomes. 'The richness of genetic variation that affects the regulation of most of … Continue reading →

The growth of personalised medicine threatens the communal approach that has brought our biggest health gains ADVOCATES of personalised medicine claim that healthcare isn't individualised enough. Backed up by the glamour of new biotechnologies such as direct-to-consumer genetic testing, personalised medicine what I call "Me Medicine" appears to its advocates as the inevitable and desirable way to go. Barack Obama, when still a US senator, declared that "in no area of research is the promise greater than in personalised medicine". This trend towards Me Medicine is led by the US, but it is growing across the developed world. In contrast, "We Medicine" public-health programmes such as flu shots or childhood vaccination is increasingly distrusted and vulnerable to austerity cuts. Yet historically this approach has produced the biggest increase in lifespan. Even today, countries with more social provision of healthcare and less individualistic attitudes have better health outcomes across all social classes. Contrary to the claims of its proponents, the personalised approach hasn't yet delivered a paradigm shift in medicine. A 2012 Harris poll of 2760 US patients and physicians found that doctors had recommended personal genetic tests for only 4 per cent of patients. The Center for Health Reform & … Continue reading →

Stem Cell Therapy in California Covered by Insurance (888) 828-4575 http://stemcelltherapyincalifornia.com TeleHealth offers stem cell therapy for arthritis, tendonitis, ligament injuries that is covered by insurance. This in... By: USPainNetwork … Continue reading →

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Orange County, CA (PRWEB) September 16, 2013 The premier stem cell clinic in California, TeleHealth, is now offering bone marrow derived stem cell injections for numerous musculoskeletal conditions. The stem cell therapy is typically covered by insurance and is an excellent treatment for conditions such as degenerative arthritis, rotator cuff tendonitis, achilles tendonitis, tennis elbow and much more. For more information and scheduling, call (888) 828-4575. TeleHealth offers treatment that is cutting edge and revolutionary. When it comes to regenerative medicine, bone marrow stem cell injections are excellent because they are outpatient, low risk and showing effective results. Being covered by insurance makes them additionally on the cutting edge at TeleHealth. Stem cell therapy is the latest option for degenerative arthritis of the knees, shoulders, hips, ankles and more. Most treatments for arthritis until now have included excellent pain relief methods such as cortisone. However, the treatment has not altered the course of the disease, but simply acted as a "band aid" for pain relief. The bone marrow derived stem cell treatment has the potential to repair and regenerate arthritic joints. Along with bone marrow derived injections, TeleHealth also offers fat derived stem cell injections along with platelet rich plasma … Continue reading →