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 […]
Category: Genetics
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 […]
Researchers find a way to screen for broad range of cancer-causing genetic changes as part of routine clinical practice, bringing effective personalised medicine a step closer
Researchers in the United States have shown, for the first time, that it is possible to screen cancer patients for a broad range of cancer-causing genetic mutations as part of normal clinical practice. By identifying patients’ individual genotypes within a relatively short time frame, doctors are able to target tumours with the most appropriate therapy. […]
Researchers discover gene that is mutated in some blood cancers and predicts better survival
Stockholm, Sweden: Geneticists have discovered that a gene involved in the modification of ribonucleic acid (RNA) is mutated in a significant proportion of people with a collection of blood cancers called myelodysplastic syndromes (MDS). The researchers found that mutations in the SF3B1 gene tended to be associated with a better prognosis, raising the possibility that […]
Direct-to-consumer genetic tests neither accurate in their predictions nor beneficial to individuals, say European geneticists
Amsterdam, The Netherlands: Direct-to-consumer (DTC) genetic tests give inaccurate predictions of disease risks and many European geneticists believe that some of them should be banned, the annual conference of the European Society of Human Genetics will hear today (Tuesday). In the first of two studies to be presented, Rachel Kalf, from the department of epidemiology […]
Pre-implantation genetic diagnosis can permit the birth of healthy children to women carrying mitochondrial DNA disease
Amsterdam, The Netherlands: Pre-implantation genetic diagnosis (PGD) can give women at risk of passing on a mitochondrial DNA disorder to their offspring a good chance of being able to give birth to an unaffected child, a researcher told the annual conference of the European Society of Human Genetics today (Monday). Dr. Debby Hellebrekers, from Maastricht […]