Diagnosing disease

Rare tumour's 'fingerprint' used to develop cheap and reliable new test

Researchers at the University of Oxford have developed a cheap and reliable diagnostic test for a rare form of cancer. The test involves screening tumour samples for a particular molecular fingerprint unique to this cancer. 20/05/11

Study confirms gene link to obesity

A new study has provided the first direct evidence that over-activity of a gene called FTO leads to over-eating and obesity in mice. The findings suggest that the gene could be a promising target for developing anti-obesity drugs that decrease the gene's activity. 16/11/10

Taking a genetic view of ADHD

It has recently been discovered that children with ADHD are more likely to have pieces of their DNA duplicated or missing than other children. 30/09/10

Researchers identify 12 new genes linked to diabetes

An international consortium of scientists has identified 12 new genes associated with type 2 diabetes, in the largest ever genetic study of the condition. 28/06/10

Three new genetic variants that increase testicular cancer risk

A study has identified three new genetic risk factors for testicular cancer, making a total of six of genomic regions associated with risk of the disease. 15/06/10

Largest genetic study of autism reveals new insights

An international team of researchers has completed the genetic analysis of the largest study of families with autism spectrum disorders. 11/06/10

Study reveals a genetic signature of autoimmune disease

Research has identified a cellular genetic signature that predicts prognosis in two different autoimmune diseases. The findings could help guide therapy. 20/04/10

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