Category: Genetics

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 […]

Increasing the age limit for Lynch syndrome genetic testing may save lives

Copenhagen, Denmark:  Raising the age limit for routine genetic testing in colorectal cancer could identify more cases of families affected by Lynch syndrome, a condition that accounts for around 5% of all colon cancers, according to new research presented at the annual conference of the European Society of Human Genetics. Professor Nicoline Hoogerbrugge, head of […]

Genomics tracks migration from lost empires to modern cities

Copenhagen, Denmark: New genomic tools are enabling researchers to overturn long-held beliefs about the origins of populations, a researcher told the annual conference of the European Society of Human Genetics. Dr Eran Elhaik, Assistant Professor of Animal and Plant Sciences at the University of Sheffield, Sheffield, UK, said that new technologies were enabling scientists to track the origins […]

New genomic analysis promises benefit in female urinary incontinence

Copenhagen, Denmark: Urinary incontinence in women is common, with almost 50% of adult women experiencing leakage at least occasionally. Genetic or heritable factors are known to contribute to half of all cases, but until now studies had failed to identify the genetic variants associated with the condition. Speaking at the annual conference of the European Society […]

Obesity can cause cardiovascular ill-health, even in the young

Copenhagen, Denmark: Higher than normal body mass index (BMI) is known to lead to cardiovascular ill-health in mid-to-late life, but there has been limited investigation of its effect in young, apparently healthy, adults. Researchers have now shown that having a higher BMI can cause worse cardiovascular health in those aged as young as 17, according to […]