A change in the sequence of DNA. Mutations occurring in genes may prevent them from working properly, which might result in disease (a genetic condition). Mutations occur naturally at a low rate, but can also be induced by radiation and some chemicals.
The World Health Organisation (WHO) has approved the first international standard for a human genetic test. WHO hopes that the move, announced on 17 November, will improve the accuracy and quality of laboratory results worldwide for a test that identifies people at high risk of developing blood clots. Establishing the...
US researchers have identified a common gene variation that can increase the risk of heart attack and stroke - but only in combination with a diet high in certain types of fat. The new study, published in the New England Journal of Medicine, shows that people who inherit an altered version...
US researchers have identified a gene, which, when altered, causes coronary artery disease and triggers heart attacks. Scientists at the Case Western Reserve University in Cleveland found that all members of an extended Iowa family who inherited a mutated MEF2A gene were affected by the disease, whereas all those who...
UK and Canadian scientists have identified a new gene involved in breast and ovarian cancer, which they say provides a link between the inherited and non-inherited (sporadic) forms of the diseases. The gene, dubbed EMSY, appears to trigger sporadic breast cancer by shutting down the BRCA2 gene, which is one...
Women who inherit mutations in one of two genes involved in inherited breast cancer have an 82 per cent lifetime risk of developing the disease, according to a new study carried out by the New York Breast Cancer Study Group (NYBCS). They found that women who have a genetic mutation...
A team of UK and US scientists have identified a gene that triggers puberty, which they say could also help research into infertility and some cancer treatments. The scientists, based at Massachusetts General Hospital and biotech firm Paradigm Therapeutics, report that mutations in the gene prevent puberty starting in both...
British fertility specialist Professor Lord Robert Winston has warned that more research into some fertility techniques associated with IVF needs to take place, in order to ensure the safety of patients and their children. Speaking at the British Association Festival of Science in Salford, Manchester earlier this week, he said...
New research has added to the growing body of evidence that children fathered by older men may face some physical health problems. A British and Swedish research team based at Oxford University, UK, has found that an inherited condition called Apert syndrome is more likely to develop in the children...
The 50th anniversary of the discovery of the structure of DNA presents a golden opportunity to take stock of what impact this and subsequent discoveries in molecular genetics have had and what it promises for the future of human health and happiness. Genetics is now big business. Worldwide anniversary celebrations...
Two new studies have shed light on the genetic changes found in cells that become cancerous. Researchers at the Johns Hopkins University in Baltimore have discovered that over 30 per cent of colorectal cancers may be associated with alterations in genes that produce proteins called tyrosine kinases. Their findings, published...
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