Category: Genetics

Loss of Y chromosome in blood cells is associated with developing Alzheimer’s disease: new research could lead to a simple test to identify those at risk

Barcelona, Spain: Men with blood cells that do not carry the Y chromosome are at greater risk of being diagnosed with Alzheimer’s disease (AD), and this is in addition to an increased risk of death from other causes, including many cancers, researchers told the annual conference of the European Society of Human Genetics. The paper […]

Discovery of new disease gene will lead to better screening for severe paediatric heart disease

Barcelona, Spain: Cardiomyopathy, or a deterioration of the ability of the heart muscle to contract, generally leads to progressive heart failure. It is frequently inherited, and, because approximately 40% of children born with it are likely to die within five years of diagnosis, being able to identify its genetic basis is particularly important. Now, an […]

Dietary experiments in mice point the way to early detection of cancer development in humans

Barcelona, Spain: Colorectal cancer is the second most common cause of cancer-related deaths in the Western world, mainly because it is usually diagnosed too late. Finding ways to identify those people who are at increased risk of developing colon cancer is therefore crucial, a researcher told the annual conference of the European Society of Human Genetics. […]

How does obesity cause disease in organs distant from those where fat accumulates? New genetic evidence points the way

Barcelona, Spain: Obesity is on the rise throughout the world, and in some developed countries two-third of the adult population is either overweight or obese. This brings with it an increased risk of serious conditions such as heart disease, stroke, cancer and osteoarthritis. Many of these conditions do not appear to affect the parts of […]

Drug combination improves progression-free survival in melanoma patients regardless of genetic status, age and spread of disease

Vienna, Austria: Patients with advanced melanoma skin cancer survive for longer without their disease progressing if they have been treated with a combination of two drugs, nivolumab and ipilimumab, than with either of these drugs alone. New results show that these patients also do better regardless of their age, stage of disease and whether or […]

Discovery of differences between tumours of younger and older colorectal cancer patients may lead to better treatments

Vienna, Austria: Colorectal cancer (CRC) is on the rise among younger patients. Although some of the younger-onset cases can be explained by hereditary factors, the majority arise spontaneously. Researchers have now found that tumours in younger colorectal cancer patients may be molecularly distinct from those of older patients, and that these differences are related to […]

Genetic screening of brain metastases could reveal new targets for treatment

Vienna, Austria: Unravelling the genetic sequences of cancer that has spread to the brain could offer unexpected targets for effective treatment, according to new research presented to the 2015 European Cancer Congress [1] and published simultaneously in Cancer Discovery [2]. Researchers told the Congress that they found that the original, or primary, cancer in a […]

Discovery of significant genetic differences between breast cancers that relapse and those that do not will lead to better treatment

Vienna, Austria: Although most patients with breast cancer are cured after treatment, in about one in five the cancer will recur, returning either to the same place as the original tumour or spreading to other parts of the body (metastasis). Now, researchers have taken an important step towards understanding why some primary breast cancers return […]

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 […]

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 […]