A young woman has become the first in the world to give birth to a healthy child after doctors restored her fertility by transplanting ovarian tissue that had been removed and frozen while she was a child. A report of the case is published in Human Reproduction [1], one of the world’s leading reproductive medicine […]
People want access to their own genomic data, even when uninterpretable
Glasgow, United Kingdom: The largest study to date of attitudes towards the use of genomic information shows that the majority of people want access to results from genome sequencing, even if these are not directly related to the condition for which the analysis has been undertaken. This applies even when the data are not health-related […]
First national study of non-invasive prenatal testing shows it works and is preferred by high-risk women
Glasgow, United Kingdom: Results from a national study of non-invasive prenatal testing (NIPT) in women at high risk of having a baby with Down’s syndrome have been presented at the annual conference of the European Society of Human Genetics. The Netherlands is the first country in the world to include NIPT in a government supported, […]
Discovery of new genetic mutation in aortic disease allows better diagnosis and brings personalised medicine a step closer
Glasgow, United Kingdom: Thoracic aortic aneurysm and dissection (TAAD), an enlargement or tearing of the walls of the aorta in the chest, is, together with abdominal aortic aneurysms, responsible for about 2% of all deaths in Western countries. The aorta is the largest artery in the body, and carries blood from the heart. About one […]
Novel genetic mutations may arise during early embryonic development rather than being acquired from the parents’ germline
Glasgow, United Kingdom: New, sophisticated gene sequencing techniques are leading to an increasing understanding of the causes of genetic disease, and can help parents with affected children make informed reproductive choices, according to research presented at the annual conference of the European Society of Human Genetics. Until now, de novo genetic mutations, alterations in a […]
Non-invasive prenatal foetal testing can detect early stage cancer in mothers
Glasgow, United Kingdom: Non-invasive prenatal testing (NIPT) for chromosomal foetal disorders is used increasingly to test for conditions such as Down’s syndrome. NIPT examines DNA from the foetus in the mother’s blood, and therefore does not carry the risk of miscarriage involved in invasive testing methods. Now, for the first time, researchers have found another […]
Non-invasive prenatal testing: effective, safe, preferred by parents, and applicable in a range of disorders
Glasgow, United Kingdom: Non-invasive prenatal testing (NIPT) for Down’s syndrome is feasible, acceptable to parents, and could be introduced into the National Health Service (NHS), UK researchers say. The results of a National Institute for Health Research (NIHR) study carried out by the first NHS laboratory to provide NIPT testing were reported to the annual […]
Endurance athletes should be tested for potentially fatal heart condition while exercising rather than at rest
Some athletes who take part in endurance exercise such as marathon running, endurance triathlons or alpine cycling can develop irregularities in their heartbeats that can, occasionally, lead to their sudden death. Now, new evidence published in the European Heart Journal [1] has shown that doctors who try to detect these heartbeat irregularities (known as arrhythmias) […]
World first: researchers quantify the proportion of different genetic mutations contained within individual bowel cancers
Bowel cancer is often driven by mutations in one of several different genes, and a patient can have a cancer with a different genetic make-up to another patient’s cancer. Identifying the molecular alterations involved in each patient’s cancer enables doctors to choose drugs that best target specific alterations. However, it is also becoming clear that […]
Digoxin increases the risk of death in patients with heart problems, according to the largest study of the evidence so far
There is conflicting evidence about whether digoxin, a drug that has been used worldwide for centuries to treat heart disease, might contribute to an increase in deaths in patients with atrial fibrillation (AF) or congestive heart failure (CHF). Now, the largest review of all the evidence to date shows that it is associated with an […]