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, […]
Category: Genetics
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 […]
Women who are ‘larks’ have a lower risk of developing breast cancer: analyses of genetic variants show the effect of sleep on breast cancer risk
Glasgow, UK: Women who are “larks”, functioning better at the beginning of the day than the end of the day, have a lower of risk breast cancer, according to new research presented at the 2018 NCRI Cancer Conference today. The study of several hundred thousand women, which was investigating whether the way people sleep can […]
Researchers map ‘family trees’ of acute myeloid leukaemia for the first time in patients treated with enasidenib
Paris, France: For the first time, a team of international researchers have mapped the family trees of cancer cells in acute myeloid leukaemia (AML) to understand how this blood cancer responds to a new drug, enasidenib. The work also explains what happens when a patient stops responding to the treatment, providing important clues about how […]
New technique provides accurate dating of ancient skeletons
Milan, Italy: Interest in the origins of human populations and their migration routes has increased greatly in recent years. A critical aspect of tracing migration events is dating them. However, the radiocarbon techniques*, that are commonly used to date and analyse DNA from ancient skeletons can be inaccurate and not always possible to apply. Inspired […]
Genomic testing for the causes of stillbirth, fœtal congenital abnormalities and neonatal death can provide hard-to-get answers and should be considered for routine use
Milan, Italy: Pregnancy loss and the death of a new-born baby are devastating events, and as of today around 25% of these perinatal deaths are unexplained despite autopsy. Discovering the cause of such a loss is of great importance for the bereaved parents, both in providing an explanation and in helping them to understand the […]
Individual access to genomic disease risk factors has a beneficial impact on lifestyles
Milan, Italy: Giving personal genomic information to individuals can have a major, long-term effect on their lifestyle, researchers have found. The Finnish GeneRISK study, providing information on the risk of cardiovascular disease (CVD) based on their genome and traditional risk factors to 7,328 people inspired changes for the better in areas such as weight loss […]
Whole Genome Sequencing helps diagnosis and reduces healthcare costs for neonates in intensive care
Milan, Italy: Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. Whole genome sequencing* carried out quickly has the potential to provide an early diagnosis, and thus improve the clinical care of […]