PUBLIC RELEASE DATE: 25-Sep-2014 Contact: John Ascenzi ascenzi@email.chop.edu 267-426-6055 Children's Hospital of Philadelphia @chop_research An international research team has identified gene mutations causing severe, difficult-to-treat forms of childhood epilepsy. Many of the mutations disrupt functioning in the synapse, the highly dynamic junction at which nerve cells communicate with one another. "This research represents a paradigm shift in epilepsy research, giving us a new target on which to focus treatment strategies," said pediatric neurologist Dennis Dlugos, M.D., director of the Pediatric Regional Epilepsy Program at The Children's Hospital of Philadelphia, and a study co-author. "There is tremendous potential for new drug development and personalized treatment strategies, which is our task for the years to come." Multiple researchers from the U.S. and Europe performed the research, the largest collaborative study to date focused on the genetic roots of severe epilepsies. The scientists reported their results online today in the American Journal of Human Genetics (epub ahead of print). Two international research consortia collaborated on the studythe Epi4K/EPGP Consortium, funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the European EuroEPINOMICS consortium. The genetic analysis was performed at the NINDS-funded Epi4K Sequencing, Biostatistics, and Bioinformatics Core at Duke University, led … Continue reading →

Contact Information Available for logged-in reporters only Newswise Philadelphia, Sept. 25, 2014 An international research team has identified gene mutations causing severe, difficult-to-treat forms of childhood epilepsy. Many of the mutations disrupt functioning in the synapse, the highly dynamic junction at which nerve cells communicate with one another. This research represents a paradigm shift in epilepsy research, giving us a new target on which to focus treatment strategies, said pediatric neurologist Dennis Dlugos, M.D., director of the Pediatric Regional Epilepsy Program at The Childrens Hospital of Philadelphia, and a study co-author. There is tremendous potential for new drug development and personalized treatment strategies, which is our task for the years to come. Multiple researchers from the U.S. and Europe performed the research, the largest collaborative study to date focused on the genetic roots of severe epilepsies. The scientists reported their results online today in the American Journal of Human Genetics (epub ahead of print). Two international research consortia collaborated on the studythe Epi4K/EPGP Consortium, funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the European EuroEPINOMICS consortium. The genetic analysis was performed at the NINDS-funded Epi4K Sequencing, Biostatistics, and Bioinformatics Core at Duke University, led by Drs. … Continue reading →

Ryan White, CTV Calgary Published Thursday, September 25, 2014 12:34PM MDT Last Updated Thursday, September 25, 2014 1:05PM MDT Albertas perceived role as a leader in innovative autism treatment in the education system is not attracting as many families to our province as once believed. According to the Autism Spectrum Disorder in Alberta report, released Thursday by University of Calgary economist Herbert Emery, 1,711 students in Calgarys education systems have some form of autism. Some thought that the numbers might be high because people were coming to Alberta for the excellent programs offered in early childhood intervention for autism in comparison to other provinces, said Carolyn Dudley, School of Public Policy. We wondered Did we have more individuals with autism than other provinces because of that?. According to the report: Calgarys autism numbers are comparable to the national average. The pervasive developmental disorder which impacts a developing childs communication skills, behavior and social interaction costs the family of a child with autism, on average, $60,000 a year. Each year, approximately 140 students with autism will graduate from Albertas schools and the support Albertas education system offers. Researchers say the provincial government needs to prepare for an influx of graduates requiring … Continue reading →

PUBLIC RELEASE DATE: 25-Sep-2014 Contact: Mikko Taina mikko.taina@kuh.fi 358-408-429-161 University of Eastern Finland @UniEastFinland More than half of the patients who have suffered a stroke with no well-defined aetiology have an enlarged left atrial appendage of the heart, according to a Finnish study. The results indicate that the enlargement of the left atrial appendage may be an independent risk factor of strokes with cardiac origin. Mr Mikko Taina, Licentiate of Medicine, presented the results in his doctoral thesis at the University of Eastern Finland. Stroke is the leading cause of long-term disability and a major burden on health-care resources worldwide. Stroke is responsible for 10 per cent of all deaths, being the second most common cause of mortality. However, more than a third of all ischemic strokes are cryptogenic, which means that their aetiology is unclear. Stroke diagnostics relies on imaging The data for the study is comprised of patients who suffered a sudden stroke and were treated in the emergency room of Kuopio University Hospital in 20052009. Conventionally, a stroke diagnosis is made on the basis of the patient's symptoms and computed tomography. A CT scan is performed in order to determine whether the patient's paralysis symptom is caused … Continue reading →

More than half of the patients who have suffered a stroke with no well-defined aetiology have an enlarged left atrial appendage of the heart, according to a Finnish study. The results indicate that the enlargement of the left atrial appendage may be an independent risk factor of strokes with cardiac origin. Mr Mikko Taina, Licentiate of Medicine, presented the results in his doctoral thesis at the University of Eastern Finland. Stroke is the leading cause of long-term disability and a major burden on health-care resources worldwide. Stroke is responsible for 10 per cent of all deaths, being the second most common cause of mortality. However, more than a third of all ischemic strokes are cryptogenic, which means that their aetiology is unclear. Stroke diagnostics relies on imaging The data for the study is comprised of patients who suffered a sudden stroke and were treated in the emergency room of Kuopio University Hospital in 2005-2009. Conventionally, a stroke diagnosis is made on the basis of the patient's symptoms and computed tomography. A CT scan is performed in order to determine whether the patient's paralysis symptom is caused by a cerebral or carotid embolism, or an intracranial haemorrhage. It is crucial to … Continue reading →

By Yvee Tadeo Guevara, ABS-CBN North America Bureau Sept. 25, 2014 LA VERNE, Calif.- Ataxia is a group of rare degenerative neurological disorders that are often fatal. About 150,000 people in the U.S. are affected by Ataxia, which is a lack of muscle coordination. Fifteen-year-old Moira Greenway is the eldest daughter of former teen star Bunny Paras and radio host Mo Twister. She has been suffering from Friedreichs Ataxia for almost eight years now. She was around seven-years-old, like six or seven-years-old, said Bunny Paras, mother of Moira. We saw that she was getting wobbly, slurry speech, and more clumsy Because its progressive, we saw talagang happening na every year it got worse and worse and worse. Moira was an active kid. But Ataxia has limited her way of life. I was able to do kickball and other little games that we did with other classmates, said Bunny. But right now I cannot do anything. Its so hard to think are you going to lose your child? said Moiras mother. Is she gonna last how many years? Hows the progression gonna be? Friedreichs Ataxia in children has a more rapid progression and is often associated with vision impairment, scoliosis, diabetes, … Continue reading →

PUBLIC RELEASE DATE: 25-Sep-2014 Contact: Alison Trinidad alison.trinidad@usc.edu 323-442-3941 University of Southern California - Health Sciences LOS ANGELES A multi-institutional team of researchers studying schizophrenia and bipolar disorder has been awarded a $16 million grant from the National Institute of Mental Health (NIMH) to create the most extensive genetic resource to date for these two devastating psychiatric disorders, using data assembled by the University of Southern California (USC). The four-year award, shared by USC, the University of Michigan and the Broad Institute Inc., will help fund a project titled: "Whole Genome Sequencing of Schizophrenia and Bipolar Disorder in the Genomic Psychiatry Cohort (GPC)." Keck School of Medicine of USC researchers Carlos N. Pato, M.D., Ph.D., Franz Alexander Professor and chair of the Department of Psychiatry and Behavioral Sciences and Michele Pato, M.D., professor and Della Martin Chair of Psychiatry, created the GPC, which includes more than 37,000 participants who have agreed to provide DNA samples for genomic, epidemiological and clinical studies. "The GPC is a cohort of patients and controls who have agreed to partner with us in extensive genomic studies of human heredity, ranging from normal function to a variety of illnesses," said Carlos N. Pato, principal investigator of … Continue reading →