Category: Genetics

New research reveals shared characteristics of unrelated ‘look-alike’ people

The question of the role of nature vs nurture in the development of human beings is still far from being settled.  Although some of the questions have been answered by twin studies, in unrelated people researchers have to wait passively for the right model to appear. Now, for the first time, researchers have been able […]

PCOS in mothers is linked to increased risk of health problems in their children

Children born to mothers with polycystic ovary syndrome (PCOS) have an increased risk of developing infections, allergies and other childhood illnesses by the age of 13, according to the largest study to investigate this. The study, which is published in Human Reproduction [1], one of the world’s leading reproductive medicine journals, looked at 1,038,375 children […]

New retinal examination can predict a heart attack

Vienna, Austria: Combining information about the pattern of blood vessels in the retina with genetic data can enable accurate prediction of an individual’s risk of coronary artery disease (CAD) and its potentially fatal outcome, myocardial infarction (MI), commonly known as a heart attack. The discovery could lead to a simple screening process where an MI […]

Rapid whole genome sequencing improves diagnosis in critically ill infants on a national scale

Vienna, Austria: 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. But whole genome sequencing1 (WGS), carried out rapidly, can provide an accurate diagnosis and therefore lead to improvements in their clinical […]

Incidental findings in genomics: how does their utility balance with their psychological effect on patients?

Vienna, Austria: As the cost of genome and exome1 sequencing falls, its use in characterising rare diseases and personalising cancer treatment, for example, is becoming far more frequent. But such analyses may throw up findings unrelated to the condition for which it has been requested. What to do with these secondary findings (SFs) or incidental […]

Thalidomide is an effective treatment for abnormal blood vessel formations

Vienna, Austria: The same properties that caused birth defects when it was given to pregnant women, the inhibition of blood vessel formation (anti-angiogenesis), have led to an interest in thalidomide’s therapeutic utility in other fields. At the annual conference of the European Society for Human Genetics on Sunday, Professor Miikka Vikkula, from the de Duve […]

Personalised testing for safety and effectiveness of common medicines must be offered throughout the NHS

Testing patients for genetic variations that affect how their body will respond to common medicines must be integrated fully, fairly and swiftly into the NHS, according to a report published by the British Pharmacological Society and the Royal College of Physicians. The report – Personalised prescribing: using pharmacogenomics to improve patient outcomes – explains how […]

The use of polygenic risk scores in pre-implantation genetic testing is unproven and unethical, says ESHG

Some private fertility clinics have begun to sell polygenic risk scores1 (PRSs) analyses on embryos to prospective parents. This practice raises many concerns, representatives from the European Society of Human Genetics told a media briefing in London. In a paper published in the European Journal of Human Genetics*, they say that there is no evidence […]

Simple, cheap urine test can detect urothelial cancers in Lynch Syndrome patients

Researchers have shown for the first time that it is possible to detect signs of urothelial cancer using a simple, postal, urine test in Lynch Syndrome (LS) patients who are at high risk of developing tumours. The findings, presented at the NCRI Festival[1], offer the potential to develop a cheap, easy and non-invasive way of […]

Researchers develop all-in-one test for the avoidance of de novo genetic disease in embryos

De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have. Where a disease-causing DNV is present in one parent, the risk of passing it to a child can be as high as 50% and being able […]