Diagnosing disease

Studies of genes and proteins are leading to new diagnostic tools that can help detect disease earlier and with greater specificity.

News


	Mutant gene could be sight for sore eyes The discovery of a mutant gene linked to a type of inherited blindness could save some patients' sight by enabling doctors to catch the disorder early. 12/02/10

	Identification of facial malformation gene could improve genetic counselling The first specific genetic mutation that can cause a potentially serious facial disfigurement has been identified by Wellcome Trust researchers. 15/05/09

	Researchers identify new gene link to autism Trust-funded researchers have identified a new gene thought to play a major role in autism spectrum disorders. The finding could help in the development of improved diagnostics for the condition. 30/04/09

	World Health Organization sets first global standard for genetic test An international standard for Factor V Leiden mutation testing has been approved by the World Health Organization (WHO). 23/11/04

	HFEA approves embryo screening for cancer The Human Fertilisation and Embryology Authority (HFEA) has approved the screening of embryos, using pre-implantation genetic diagnosis, for familial adenomatous polyposis, an inherited bowel cancer. 02/11/04

	Embryo screening shown not to harm the health of IVF babies Researchers find that babies born where preimplantation genetic diagnosis has been used are no more likely to suffer from birth defects than babies born through a natural pregnancy. 19/08/04

	European Commission releases recommendations on genetic testing Genetic testing proposed as an integral part of health service provision. 22/04/04

	Economic evaluation of prenatal diagnosis for chromosomal abnormalities Should prenatal diagnostic testing be offered to all pregnant women on economic grounds? 29/01/04

	Population screening for hereditary haemochromatosis Study finds lower than expected uptake of screening among relatives of patients and carriers. 18/12/03

	Report on EU genetic testing services Report identifies an absence of unifying policy across Europe on quality, safety and efficacy of genetic testing services. 28/11/03

	Report on direct-to-public genetic testing 'Genes Direct', by the Human Genetics Commission, examines genetic testing services offered directly to the public. 14/04/03

	Using microarrays to distinguish primary and metastatic tumours DNA microarrays ('chips') have been used to identify a gene expression 'signature' that can distinguish non-metastatic primary tumours both from metastatic tumours and from primary tumours that are destined to metastasise. 21/03/03

	Preimplantation diagnosis of early-onset Alzheimer's disease First use of preimplantation genetic diagnosis to select embryo without early-onset Alzheimer's mutation. 19/03/02