Queensland scientists have moved a step closer to new treatments for a rare degenerative brain disease. Ataxia telangiectasia is an inherited disease causing severe disability, a weakened immune system, susceptibility to infection and an increased risk of cancer. It affects between one in 100,000 and one in 300,000 people and is ultimately fatal. Patients are frequently confined to a wheelchair by their early teenage years and generally die by their 20s. People with the disease can develop cancer and brain degeneration because a gene that recognises and repairs DNA damage is defective. Researchers from the University of Queensland's Australian Institute for Bioengineering and Nanotechnology have found a way to develop brain cells to study in the lab from the skin cells of children. By reprogramming the skin cells into stem cells, then brain cells, researchers hope to be able to correct the genetic mutations and demonstrate that they can replace the defective cells that cause the problems in the disease. Replacing the defective cells with corrected cells, or developing new drugs using the cells in the study, could help treat the disease. The researchers could start screening medicines in one to two years, but testing in animals would have to … Continue reading →

Background Many people with epilepsy in low-income countries do not receive appropriate biomedical treatment. This epilepsy treatment gap might be caused by patients not seeking biomedical treatment or not adhering to prescribed antiepileptic drugs (AEDs). We measured the prevalence of and investigated risk factors for the epilepsy treatment gap in rural Kenya. All people with active convulsive epilepsy identified during a cross-sectional survey of 232176 people in Kilifi were approached. The epilepsy treatment gap was defined as the percentage of people with active epilepsy who had not accessed biomedical services or who were not on treatment or were on inadequate treatment. Information about risk factors was obtained through a questionnaire-based interview of sociodemographic characteristics, socioeconomic status, access to health facilities, seizures, stigma, and beliefs and attitudes about epilepsy. The factors associated with people not seeking biomedical treatment and not adhering to AEDs were investigated separately, adjusted for age. 673 people with epilepsy were interviewed, of whom 499 (74%) reported seeking treatment from a health facility. Blood samples were taken from 502 (75%) people, of whom 132 (26%) reported taking AEDs, but 189 (38%) had AEDs detectable in the blood. The sensitivity and specificity of self-reported adherence compared with AEDs detected … Continue reading →

ScienceDaily (July 5, 2012) A*STAR scientists from the Institute of Molecular and Cell Biology (IMCB) and the Singapore Bioimaging Consortium (SBIC) have discovered a new signalling pathway that controls both obesity and atherosclerosis. The team demonstrated, for the first time, that mice deficient in the Wip1 gene were resistant to weight gain and atherosclerosis via regulation of the Ataxia telangiectasia mutated gene (ATM) and its downstream signalling molecule mTor. These groundbreaking findings were published in the journal Cell Metabolism on 3rd July and may provide significant new avenues for therapeutic interventions for obesity and atherosclerosis. Obesity and atherosclerosis-related diseases account for over one-third of deaths in the Western world. Controlling these conditions remains a major challenge due to an incomplete understanding of the molecular pathways involved. Atherosclerosis, a progressive disease of the large arteries, is an underlying cause of many cardiovascular diseases. In Singapore, 10.8% of our population is obese[1] and cardiovascular disease accounted for 31.9% of all deaths[2] in 2010. Obesity and atherosclerosis are accompanied by the accumulation of lipid droplets in adipocytes (fat cells) and in foam cells respectively. Foam cells can subsequently rupture, damaging blood vessels, and contributing to further progression of atherosclerosis. The scientists discovered that … Continue reading →

NEW YORK - The days of pregnant women having a 3-inch-long (8-centimetre-long) hollow needle jabbed into their abdomens may be numbered. For the second time in a month, scientists have announced that a simple blood test, rather than more invasive tests such as amniocentesis, can determine a fetus's genetic make-up, identifying mutations causing any of about 3,000 inherited disorders that arise from a glitch in a single gene, such as cystic fibrosis. Unlike a procedure unveiled last month, the one announced Wednesday in the journal Nature can be done without knowing who the father is, much less obtaining a sample of his DNA. Since paternity is unknown or incorrect in an estimated 3 to 10% of births in the United States, the father-free method promises to make fetal DNA sequencing possible in every pregnancy, if hurdles including cost and accuracy are overcome. "We're really on the verge of an enormous increase in our ability to understand what an infant will be like," said Dr Michael Katz, a senior adviser to the March of Dimes, a foundation that supports research on pregnancy and birth defects. Katz was not involved in the study. "You'll be able to detect any kind of abnormality … Continue reading →

Editor's Choice Main Category: Alzheimer's / Dementia Also Included In: Genetics Article Date: 05 Jul 2012 - 10:00 PDT Current ratings for: Researchers Working Hard To Unlock Alzheimer's Genetic Secrets The study, which will be conducted by researchers at Indiana University School of Medicine and colleagues across the country, could significantly affect the development of treatments for Alzheimer's. The researchers will sequence and examine genomes of more than 800 adults taking part in the Alzheimer's Disease Neuroimaging Initiative (ADNI). The study, supported by the Brin Wojcicki Foundation and the Alzheimer's Association, will provide a listing of all 3 billion segments (base pairs) of genetic code in each participant's DNA. Andrew Saykin, Psy.D., director of the Indiana University Center for Neuroimaging and lead researcher for the genetics core of the Alzheimer's Disease Neuroimaging Initiative, explained: "This is the equivalent of going from a good quality map of the United States to having the detailed blueprints for everything within our borders." The DNA samples gathered from participants are stored at the National Cell Repository for Alzheimer's Disease at the IU School of Medicine. The repository, directed by Tatiana Foroud, Ph.D., P. Michael Conneally Professor of Medical and Molecular Genetics, prepared the DNA … Continue reading →