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.
Scientists from the Salk Institute in California have used gene therapy to correct a form of infertility in male mice. The study is reported in the Proceedings of the National Academy of Sciences. The mice in the study had mutations in a gene called KL2 in the Sertoli cells - cells...
Scientists have discovered a gene mutation that can predispose carriers to one of the most common forms of epilepsy, bringing hope that new treatments for the disorder will be able to be developed. Canadian researchers discovered that the mutated gene, GABRA1, was present in eight members of a French-Canadian family...
Cancer research scientists have identified another gene that, if mutation occurs, can result in an increased risk of breast cancer. The gene, called CHEK2 or CHK2, is thought to double the 13 per cent lifetime risk of breast cancer that is faced by women in the US. The report, published...
A woman who will develop Alzheimer's disease at an early age has given birth to a baby that will never develop the disease. The mother is a carrier of an inherited genetic mutation which predisposes her to early-onset Alzheimer's. Scientists in Chicago used pre-implantation genetic diagnosis (PGD) to screen embryos...
Scientists from the Queensland Institute of Medical Research claim that they have discovered a gene that may explain 20 per cent of hereditary breast cancer cases. If one of two mutations of the gene, named BRCA3, is inherited by a woman, the scientists have found that she will be up...
Scientists believe that they have discovered a 'rogue gene' that predisposes people to blood clots and may therefore cause some women to suffer recurrent or late miscarriages. It is thought that mutations in the Factor V Leiden (FVL) gene cause clots in blood vessels in the placenta, which increase the...
A gene fault has been identified which contributes towards a severe form of spina bifida. Scientists at London's Institute of Child Health and Imperial College have been searching for the genetic link for ten years. They now plan to develop a screening test for at-risk parents. It is also hoped...
Scientists from the Wellcome Trust Centre for Human Genetics in Oxford and the Institute of Child Health in London have identified a gene linked to the disruption of speech and language development. The genetic link may show why some people suffer from particular language impairments. Professor Anthony Monaco from the...
Scientists from Imperial College in London have identified a gene that causes children to be born with cleft palates. The scientists discovered that mutations in the T-box 22 gene cause the sex-linked form of the condition, known as CPX, and also another condition known as 'tongue-tie'. The leader of the...
The Human Fertilisation and Embryology Authority (HFEA) agreed in principle on Friday to allow a new type of genetic screening of in vitro fertilisation (IVF) embryos in the UK. Known as aneuploidy screening, the technique enables embryos to be tested for a range of genetic abnormalities and may help fertility...
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