People who have modestly but measurably worse lung function are more likely to suffer sudden cardiac death (SCD), according to research presented at the European Respiratory Society International Congress. [1] SCD is an unexpected death that results from a sudden malfunction in the heart and in many people who suffer SCD, there are no previous […]
Hotter weather is linked to increases in COPD exacerbations
Warmer weather is linked to a worsening of chronic obstructive pulmonary disease (COPD) symptoms, according to research to be presented at the ‘virtual’ European Respiratory Society International Congress [1]. Analysis of data from 1,177 current and former smokers with COPD in the USA showed that approximately two days after an increase in ambient temperatures, there […]
Researchers develop all-in-one test for the avoidance of de novo genetic disease in embryos
De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have. Where a disease-causing DNV is present in one parent, the risk of passing it to a child can be as high as 50% and being able […]
Identification of the genetic causes of childhood epilepsy shows the way to improved treatment and care
Epilepsy is one of the most common chronic neurological diseases, affecting more than 50 million people worldwide. Although it is believed that a large proportion of childhood-onset epilepsies are caused by genetic changes, it remains unknown precisely how many of these patients suffer from a genetic disorder and how often the treatment can be targeted […]
Genetic data privacy, the GDPR, and research needs: a delicate balance
The EU’s General Data Protection Regulation (GDPR) has created a great deal of uncertainty about how key requirements should be interpreted. This means that collaborators in international genetic research projects do not always agree on fundamental issues such as whether they are processing personal data, consent requirements under the GDPR and on what basis genetic […]
Finish the course: new genetic understanding of lack of adherence to medication will aid in the identification of patients at risk
How strictly patients follow a prescribed drug treatment (drug adherence) is clearly important if the therapy is to have maximum effect. A number of things can affect adherence, including behavioural and socioeconomic factors, but to date there have been few investigations into the role played by genetics. Now, research to be presented at the annual […]
Genetic risk scores can aid accurate diagnosis of epilepsy
Although epilepsy is a relatively common condition, affecting approximately 1% of individuals worldwide, it is often difficult to diagnose in clinical practice, and it is estimated that up to a quarter of all cases may be misdiagnosed initially. Epilepsy is often inherited, and recent research has shown that sufferers have elevated polygenic risk scores1 (PRSs) […]
Dried blood spots from newborn screening can help identify the cause of sudden cardiac death in the young
The underlying cause of sudden cardiac death (SCD) in a young person is often difficult to identify. A genetic analysis could provide more information in many cases, but blood samples are not collected routinely at the time of death, and DNA extracted from the tissues collected at autopsy is damaged because of the way they […]
Night shift work is linked to increased risk of heart problems
People who work night shifts are at increased risk of developing an irregular and often abnormally fast heart rhythm called atrial fibrillation (AF), according to research published in the European Heart Journal [1]. The study is the first to investigate the links between night shift work and AF. Using information from 283,657 people in the […]
Blood test for early detection of cancer: final study results support screening use
Test can detect over 50 types of cancer, often before symptoms show Final results from a study of a blood test that can detect more than 50 types of cancer have shown that it is accurate enough to be rolled out as a multi-cancer screening test among people at higher risk of the disease, including […]