Category: Genetics

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 […]

Rapid bedside genetic testing can prevent antibiotic-related hearing loss in new-borns treated for sepsis

Milan, Italy: More than a million neonatal deaths worldwide each year are estimated to be due to sepsis [1]. In the UK there are approximately 90,000 admissions to neonatal intensive care units per year. Nearly all these patients receive antibiotic therapy during their hospital stay, but babies with a specific genetic change can suffer irreversible […]

Double mastectomy to prevent breast cancer reduces risk of dying from the disease in BRCA1 mutation carriers – but does not reduce further the already low risk in BRCA2 carriers

Barcelona, Spain: Healthy women who carry a breast cancer-causing mutation in the BRCA1 gene, not only reduce their risk of developing the disease but also their chances of dying from it if they have both breasts removed, according to new research presented at the 11th European Breast Cancer Conference. However, the study also found that […]

Risk of a second breast cancer can be better quantified in women carrying a BRCA mutation

Barcelona, Spain: The risk of a second breast cancer in patients with high-risk BRCA gene mutations can be more precisely predicted by testing for several other genetic variants, each of which are known to have a small impact on breast cancer risk. Breast cancer patients who are diagnosed at a very young age, or who […]

Researchers identify a common genetic variant linked to muscle pains in statin users

People who have been prescribed statins to lower their cholesterol levels sometimes complain of muscle aches and pains and therefore stop taking their medication in the belief that it is causing their symptoms. This puts them at higher risk of developing diseases of the heart and blood vessels which the statins had been prescribed to […]

China’s mass collection of human DNA without informed consent is contrary to the right to privacy

China holds the largest searchable DNA database in the world; genetic information from over 40 million individuals that is ostensibly to be used in the fight against crime. However, the way in which these data are collected and the protection given to providers leave much to be desired, according to the European Society of Human […]

Screening for both genetic diseases and chromosomal defects with a single biopsy improves pregnancy rates

Couples who are undergoing pre-implantation genetic diagnosis (PGD) in order to avoid transmission of inherited diseases, such as Duchenne muscular dystrophy or cystic fibrosis, should also have their embryos screened for abnormal numbers of chromosomes at the same time, say Italian researchers. By doing this, only embryos that are free not only of the genetic […]