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 […]
Category: Genetics
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 […]
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, […]
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 […]
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 […]
Early results of new drug, ASP8273, show response in Japanese patients with treatment-resistant non-small cell lung cancer
Barcelona, Spain: In a second presentation looking at new ways of treating non-small cell lung cancer (NSCLC) that has both the EGFR and T790M mutations, researchers told the 26th EORTC-NCI-AACR [1] Symposium on Molecular Targets and Cancer Therapeutics in Barcelona, Spain, that an oral drug called ASP8273 has caused tumour shrinkage in patients in a […]
Three drugs may be better than one for certain patients with advanced colorectal cancer
Barcelona, Spain: Patients with a form of advanced colorectal cancer that is driven by a mutated version of the BRAF gene have limited treatment options available. However, results from a multi-centre clinical trial suggest that the cancer may respond to a combination of three targeted drugs. Professor Josep Tabernero, head of the medical oncology department […]
Researchers identify biological indicator of response to new ovarian cancer drug
Barcelona, Spain: Researchers have found a way of identifying which ovarian cancer patients are likely to respond well to a new anti-cancer drug called rucaparib. Results of clinical trials have shown that women with tumours that are sensitive to platinum-based chemotherapy and who carry inherited mutations in the BRCA1/2 genes respond well to rucaparib. But […]