PUBLIC RELEASE DATE: 17-Oct-2014 Contact: Robert Redmond rredmond@cshl.edu 516-422-4101 Cold Spring Harbor Laboratory @CSHLnews Since the appearance of modern humans in Africa around 200,000 years ago, we have migrated around the globe and accumulated genetic variations that affect various traits, including our appearance, skin color, food tolerance, and susceptibility to different diseases. Large-scale DNA sequencing is now allowing us to map the patterns of human genetic variation more accurately than ever before, trace our ancestries, and develop personalized therapies for particular diseases. It is also reinforcing the idea that human populations are far from homogeneous, are highly intermixed, and do not fall into distinct races or castes that can be defined genetically. Human Variation from Cold Spring Harbor Laboratory Press provides a state-of-the-art view of human genetic variation and what we can infer from it, surveying the genetic diversity seen in Africa, Europe, the Americas, and India. The contributors discuss what this can tell us about human history and how it can be used to improve human health. They also caution against assumptions that differences between individuals always stem from our DNA, stressing the importance of nongenetic forces and pointing out the limits of our knowledge. The book is thus … Continue reading →

PUBLIC RELEASE DATE: 16-Oct-2014 Contact: Sarah DeDeimar sdediemar@assurerxhealth.com 513-701-5162 Assurex Health @AssurexHealth Mason, OH October 16, 2014 - Assurex Health and Canada's Centre for Addiction and Mental Health (CAMH) today announced they have received a $6 million grant from Genome Canada, an agency of the Canadian government, to study the benefits of genetic testing to guide medication decisions for patients with depression or schizophrenia. The clinical trial is the first to evaluate Canadian patients, including patients with schizophrenia, using personalized decision guidance provided by the GeneSight Psychotropic test, developed by Assurex Health in Mason, Ohio. The grant funds a joint Genomic Applications Partnership Program (GAPP) to be managed by CAMH and Assurex Health, with administrative and programmatic support from the Ontario Genomic Institute. GeneSight technology is based on combinatorial pharmacogenomics (CPGxTM), the study of how variations in multiple genes influence an individual's response to medications, as well as evidence-based medicine and clinical pharmacology. The technology analyzes response to medicines commonly prescribed to treat depression and schizophrenia, as well as anxiety, posttraumatic stress disorder (PTSD), bipolar disorder, and other behavioral health conditions. Three Year Study to Examine Clinical Outcomes, Cost Benefits "Genome Canada is pleased to support this partnership that will … Continue reading →

Sudden unexpected death in epilepsy (SUDEP) is concerning and many -- even those with seizure disorders -- may not be aware of this condition. New research published in Epilepsia, a journal published by Wiley on behalf of the International League Against Epilepsy (ILAE), reports that 76% of caregivers are more likely to have heard of SUDEP compared with 65% of patients with epilepsy. Dr. Barbara Kroner, an epidemiologist with RTI International in Rockville, Maryland and lead author of the study says, "When someone with epilepsy dies suddenly we want to understand why. Our research calls attention to SUDEP and provides important knowledge to help neurologists have open discussions with patients, especially those at greatest risk of epilepsy-related death." While it is obviously an overwhelming loss, SUDEP is uncommon, occurring in about 1 in 1,000 individuals with epilepsy each year. However, a study by Dr. David Thurman and colleagues also published in this issue of Epilepsia suggests that "comparing years of potential life lost from SUDEP with selected other neurologic diseases, SUDEP ranks second only to stroke." Moreover previous evidence shows that only 5% of neurologists discuss SUDEP with their all patients and 69% discuss it with few or none of … Continue reading →

KUCHING: The first four-and-a-half hours are critical for a stroke victim to recover and make a complete recovery. Therefore, it is extremely important to recognise early warning signs of stroke to enable immediate treatment, said neurologist Dr Rachel Sim Siew Hung. In the first few hours after a stroke, upon arrival at the emergency department of a hospital, the patient will undergo blood investigation, computed tomography (CT) brain scan, review by a specialist and admission for further management. Warning signs of stroke are FAST (Face, Arm, Speech and Time), which means one side of the face droops, inability to raise both arms or hands, slurred speech, and to act fast (Time), she told a press conference yesterday. She said according to latest statistics by National Stroke Association of Malaysia (Nasam), one in six Malaysians is at risk of stroke regardless of gender, and six Malaysians suffer from stroke every hour. She also said every six seconds, someone dies from stroke worldwide, and every year about 40,000 people in Malaysia suffer from strokes. There is a significant lack of awareness among the general public about stroke, warning signs, preventive measures and the need to seek immediate medical treatment and rehabilitation after … Continue reading →