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 […]
Category: Genetics
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, […]
New study aims to show how to identify risk of recurrence of developmental disorder in future pregnancies
Gothenburg, Sweden: Having a child with a developmental disorder can cause parents to worry about the outcome of further pregnancies. In cases where the genetic mutation causing the disorder is not present in either parent it is assumed to be a one-off event with a very small chance of recurrence. But in some families, the […]
Discovery of new mutations may lead to better treatment for children with developmental disorders
Gothenburg, Sweden: Developmental disorders are neurologically-based conditions that affect the acquisition of specific skills such as attention, memory, language and social interaction. Although they have a genetic cause, this is often difficult to detect through standard genetic analysis of the parents. The mutation found in the affected child is therefore termed a ‘de novo’ mutation […]
Non-invasive prenatal diagnosis for foetal sickle cell disease moves a step closer
Gothenburg, Sweden: Sickle cell disease (SCD) is a form of anaemia that is inherited when both parents are carriers of a mutation in the haemoglobin gene. Currently, it can only be diagnosed in pregnancy by carrying out an invasive test that has a small risk of miscarriage and is therefore sometimes declined by parents. Now, […]
Discovery of new genetic causes of male infertility will lead to better diagnosis and treatment
Gothenburg, Sweden: Infertility – the failure to conceive after a year of unprotected intercourse – affects one in every six couples worldwide, and the man is implicated in about half of these cases. Despite the known importance of genetic factors in the event of the man producing no sperm, only about 25% of these cases […]
Endurance but not resistance training has anti-aging effects
Researchers have discovered evidence that endurance exercise, such as running, swimming, cross-country skiing and cycling, will help you age better than resistance exercise, which involves strength training with weights. In a study published in the European Heart Journal [1], researchers in Germany looked at the effects of three types of exercise – endurance training, high […]
Two genomic tests identify groups of patients most likely to benefit from new drugs: latest results from I-SPY 2 trial
Dublin, Ireland: New results from a long-running trial to identify which new drugs or combinations of drugs are most effective in which types of breast cancer, show that two genomic tests are bringing the era of truly personalised medicine ever nearer. Professor Laura van ‘t Veer, leader of the Breast Oncology Program at the University […]