Paris, France: Low levels of vitamin D can trigger hypertension, according to the world’s largest study to examine the causal association between the two. Although observational studies have already shown this link, a large-scale genetic study was necessary before the cause and effect could be proven, researchers told the annual conference of the European Society […]
Category: Genetics
Diabetes drug shows promise in treatment of neurodegenerative disease
Paris, France: A drug used to control Type II diabetes can help repair the spinal cords of mice suffering from the inherited disease adrenoleukodystrophy which, untreated, leads eventually to a paralysis, a vegetative state and death. This is an important step along the road to the development of a therapy for the human disease for […]
Significant under-use of genetic testing for inherited cancers puts health of entire families at risk
Paris, France: A new study of the use of genetic testing for cancer-causing mutations in affected families in France has found that its take-up is very low. Professor Pascal Pujol, Head of the Cancer Genetics Department, Montpellier University Hospital, Montpellier, France, told the annual conference of the European Society of Human Genetics that analysis of […]
How ‘free will’ is implemented in the brain and is it possible to intervene in the process?
London, UK: Researchers have been able to identify the precise moment when a network of nerve cells (neurons) in the brain creates the signal to perform an action, before a person is even aware of deciding to take that action. Now they are building on this work to make initial attempts to interfere with consciously […]
Relatives of people who die suddenly from heart problems have greatly increased risk of cardiovascular disease
Relatives of young people who have died suddenly from a heart-related problem are at greatly increased risk of developing cardiovascular disease according to a study published online in the European Heart Journal [1]. The authors of the study say these findings have two major implications; firstly, they strongly support the fact that autopsies should always […]
Genetic heart diseases may be responsible for unexplained stillbirths
Nuremberg, Germany: Genetic researchers have made an important step towards resolving the mystery of the causes of intrauterine fetal demise (IUFD), or stillbirth, where a baby dies in the womb after the 14th week of gestation. IUFD is responsible for 60% of perinatal mortality and occurs in about one in every two hundred pregnancies in […]
Exome sequencing gives cheaper, faster diagnosis in heterogeneous disease; results from first use of this technique in the clinic
Nuremberg, Germany: The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands told the annual conference of the European Society of Human Genetics. The scientists were able to perform a […]
Genome-wide analysis shows previously undetected abnormalities in parents of affected children
Nuremberg, Germany: The use of genome-wide array analysis[1] in parents whose children are suspected of having a genetic disease shows that the parents frequently also have previously undetected genetic abnormalities, a researcher from The Netherlands told the annual conference of the European Society of Human Genetics. Being aware of this is important to parents because […]
Predicting treatment response in central nervous system diseases; researchers find a simple way of avoiding dangerous side effects
Nuremberg, Germany: The commonly-used epilepsy drug, valproic acid (VPA), can have a highly beneficial effect on some babies born with spinal muscular atrophy (SMA), the number one genetic killer during early infancy. But in about two-thirds of such cases it is either damaging or simply has no effect. Now, for the first time, researchers have […]
Understanding individual genetic variation can help predict chemotherapy side effects
Vienna, Austria: The largest study ever on the effect of genetic variability on the toxicity of chemotherapy in breast cancer shows that it is possible to predict which patients are most likely to suffer serious side effects, a researcher told the 8th European Breast Cancer Conference (EBCC-8). Dr. Christof Vulsteke, from the Catholic University of […]