Gothenburg, Sweden: Variants in the DHDDS gene cause a severe neurodegenerative condition, characterised by tremors, seizures, coordination and learning difficulties, usually manifesting in early childhood. This Parkinson’s-like condition is extremely rare, and until recently, parents were told that there was nothing that could be done to slow down its progression. But now, researchers from The […]
Category: Genetics
Integrating genetic origin data with tumour analyses enables better prediction of survival
Gothenburg, Sweden: New research to be presented at the annual conference of the European Society of Human Genetics shows that a cancer patient’s genetic ancestry can have a significant effect both on how their disease progresses and their survival. In the largest study of its kind, researchers examined nearly 1,900 specific genetic changes in tumours […]
Adding genetic data to steroid prescribing can help predict side effects
Gothenburg, Sweden: Oral corticosteroids (OCSs) are widely used and effective in the treatment of chronic inflammatory conditions such as arthritis, asthma, and autoimmune diseases. They work by reducing inflammation, relieving pain, and calming the immune system. However, over one in ten patients develop side effects, particularly if they use steroids over a long period. Until […]
New non-invasive prenatal testing technique gives results comparable to invasive methods, with advantages in both safety and cost
Gothenburg, Sweden: While non-invasive prenatal testing (NIPT) has revolutionised prenatal diagnostics by allowing the detection of a number of genetic problems in a foetus, it is currently limited and thus misses many genetic causes of abnormalities. But a new technique, presented to the annual conference of the European Society of Human Genetics, introduces a technology […]
Molecular study of world’s oldest living person reveals new secrets of healthy ageing
When the oldest living person in the world died at just under 117 and a half years of age in August 2024, her own account of how she had managed to live for so long was already enough to inform practical interventions that can help ensure healthy ageing. But now, an international team of researchers […]
Integrating pharmacogenomic-guided prescribing into routine clinical practice: promising results from the NHS PROGRESS study
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 […]
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 […]