Category: Genetics

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 […]

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 […]

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 […]

Genetic evidence shows that smoking can cause us to age faster

Milan, Italy: A study of nearly 500,000 people has shown that smoking shortens the end fragments of chromosomes in the white blood cells of our immune systems. The length of these end fragments, called telomeres, is an indicator of how quickly we age and our cells’ ability to repair and regenerate. In her presentation to […]

Researchers urge caution in gene editing early human embryos following findings that it could have unexpected and dangerous consequences

Further research to refine gene editing technology is needed Copenhagen, Denmark: Scientists have discovered that the cells of early human embryos are often unable to repair damage to their DNA. The researchers say that this has important implications for the proposed use of gene editing techniques to remove serious inherited diseases from embryos, as well […]

The chatbot will see you now: use of automation in the informed consent process for genomics research studies leads to wider reach and better understanding

Glasgow, UK:  The informed consent process in biomedical research is biased towards people who can meet with clinical study staff during the working day. For those who have the availability to have a consent conversation, the time burden can be off-putting. Professor Eric Vilain, from the Department of Paediatrics, University of California, Irvine, USA, told […]