Category: Genetics

Simple, cheap urine test can detect urothelial cancers in Lynch Syndrome patients

Researchers have shown for the first time that it is possible to detect signs of urothelial cancer using a simple, postal, urine test in Lynch Syndrome (LS) patients who are at high risk of developing tumours. The findings, presented at the NCRI Festival[1], offer the potential to develop a cheap, easy and non-invasive way of […]

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 […]

Nobel Prize winner says scientific research has to be ‘passion-driven’

Scientists cannot be expected to drop everything they’re working on to turn their attention to beating COVID-19, according to the winner of the 2019 Nobel Prize in Physiology or Medicine, Professor Sir Peter Ratcliffe. Speaking before he delivered the prestigious Michel Clavel lecture to the 32nd EORTC-NCI-AACR [1] Symposium on Molecular Targets and Cancer Therapeutics, […]

Blood test accurately detects over 50 types of cancer, often before symptoms show

Test also identifies where in the body the cancer has originated Researchers have developed the first blood test that can accurately detect more than 50 types of cancer and identify in which tissue the cancer originated, often before there are any clinical signs or symptoms of the disease. In a paper published in the leading […]

First large-scale genetic study of the causes of excess liver iron may lead to better treatment

Gothenburg, Sweden:  High levels of iron in the liver are linked to a number of serious health conditions including cancer, diabetes, high blood pressure and cardiovascular as well as liver disease. But measuring liver iron is difficult and until recently could only be done through an invasive biopsy. Now researchers from University of Exeter, UK, […]