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 […]
Category: Genetics
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 […]
Molecular profiling improves diagnosis and survival for children with high-risk cancers
Berlin, Germany: Cancer is the leading cause of disease-related death in children in most developed countries, and at least a quarter of these patients are diagnosed with aggressive high-risk or relapsed cancers, with an expected five-year survival rate of less than 30%. Accurate diagnosis can be difficult, and survivors often suffer life-long side effects because […]
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 […]
Families of men with fertility problems show distinct patterns of increased risk for several types of cancer
For the first time researchers have identified patterns of risk for several different types of cancer in men with fertility problems and their families. The study, which is published in Human Reproduction [1], one of the world’s leading reproductive medicine journals, found that families of men who have very few or no sperm in their […]