Milan, Italy: Pharmacogenomics studies how individuals respond to drugs based on their genetic code. Using that knowledge to guide prescribing in routine care could lead to better outcomes for patients and save money for health systems. Generating pharmacogenomic data in the laboratory is relatively straightforward, but a major challenge is making that information available to […]
Category: Genetics
Genetic investigations reveal reason for severe neuropathy after infection
Milan, Italy: Neuropathy, a disorder in which damage to nerves can impair sensation and movement, has many causes, including infection1. Now, researchers from the UK have identified distinct genetic changes in a newly-discovered neuropathy and believe that their work will provide insights into the causal mechanism and why some previously healthy people develop neuropathies after […]
New blood test enables the rapid diagnosis of thousands of rare genetic diseases
Milan, Italy: A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research to be presented to the annual conference of the European Society of Human Genetics. While rare genetic diseases are uncommon, as their name suggests, there are more than 7,000 types of disease caused […]
Early prediction of preterm birth in cell-free RNA may revolutionise prevention strategies
Milan, Italy: Children born before 37 weeks of gestation have a considerably increased risk of dying before they reach the age of five. Predicting the risk of preterm birth (PTB) and hence implementing preventive strategies is complicated by the heterogeneity of the condition, the many unknown mechanisms involved, and the lack of reliable predictive tools. […]
European regulation needed to prevent the birth of children with inherited cancer-causing genetic mutation after sperm donation
Milan, Italy: A case in which a sperm donor was later found to be carrying a cancer-causing pathogenic variant in his gametes has highlighted the problems of regulating gamete donation at European and international level, the annual conference of the European Society of Human Genetics will hear on Saturday. Dr Edwige Kasper, a specialist in […]
Discovery of shared genetic links between sleep, neurodevelopmental, and neuropsychiatric conditions may lead to the development of new treatments
Berlin, Germany: Disturbed sleep is very common in almost all neuropsychiatric and neurodevelopmental conditions (NDPCs), such as autism, attention deficit and hyperactivity disorder, schizophrenia, and bipolar disorder. While it is understandable that the symptoms of such conditions would lead to sleep disruption and also that sleep disruption would worsen symptoms in these conditions, Irish researchers […]
New biomarkers will enable personalised influenza vaccination schedule
Berlin, Germany: While influenza infection is a significant public health threat, causing serious illness in between three and five million people worldwide per year and leading to about up to 650,000 deaths, the effectiveness of influenza vaccines varies considerably between individuals depending on vaccine types and individual circumstances. A person’s ability to resist infection (host […]
Understanding how abnormal embryos self-correct may provide women with a better chance of IVF pregnancy
Berlin, Germany: Aneuploidy (the presence of an abnormal number of chromosomes) in embryos is a major cause of impaired embryo development, leading to conditions such as Down syndrome, as well as to pregnancy loss. The transfer of such embryos in women undergoing IVF is therefore usually avoided because of unfavourable pregnancy outcomes. But mosaic embryos, […]
Socioeconomic status influences genetic risk for many complex diseases
Berlin, Germany: Differences in socioeconomic status (SES) are known to be linked to differences in the risk of developing disease. While people with lower SES are more likely to develop complex diseases such as diabetes and cardiovascular disease, those with a higher SES are at increased risk of developing certain types of cancer. Using biobank […]
Polygenic risk scores give inaccurate and highly inconsistent results in embryo selection
Berlin, Germany: Polygenic risk scores (PRSs) are estimates of an individual’s susceptibility to a specific complex trait obtained by aggregating the effects of dozens, thousands, and potentially millions of genetic variants associated with that specific trait into a single figure. Some private companies now market PRS embryo screening to prospective parents through the use of […]