A family history of cancer increases the risk of other members of the family developing not only the same cancer (known as a concordant cancer) but also a different (discordant) cancer, according to a large study of 23,000 people in Italy and Switzerland. The research, published in the leading cancer journal Annals of Oncology [1], […]
Category: Genetics
Genetic research clarifies link between hypertension and Vitamin D deficiency
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 […]
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 […]