A germline mutation is any detectable and heritable variation in the lineage of germ cells, any biological cell that gives rise to the gametes of an organism in sexual reproduction. … Continue Reading Study provides most detailed analysis yet of germline mutations involved in childhood cancers.
Inflammatory bowel disease (IBD) is a painful, chronic inflammation of the gastrointestinal tract, affecting roughly two million children and adults in the U.S. Inflammatory bowel disease (IBD) beginning in childhood tends … Continue Reading Study identifies gene variants in inflammatory bowel disease under Age 5.
Autism spectrum disorder (ASD) represents a diverse group of neurodevelopmental conditions. The clinical presentation and outcome vary substantially. The use of genome-wide tests to provide molecular diagnosis for individuals with … Continue Reading Study identifies children with Autism who benefit from genetic testing.
Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent … Continue Reading Researchers identify new gene responsible for liver disease.
The first-ever systematic study of the genomes of patients with ALK-negative anaplastic large cell lymphoma (ALCL), a particularly aggressive form of non-Hodgkin’s lymphoma, shows that many cases of the disease … Continue Reading Researchers demystify rare, deadly lymphoma.
Researchers at the Spanish National Cancer Research Centre (CNIO) have described the presence of mutations in the MDH2 gene, in a family with very rare neuroendocrine tumours associated with a … Continue Reading Researchers identify point of epigenetic mutation of hereditary neuroendocrine tumours.
Notch genes are a double-edged sword, in some cancers they have a harmful effect because they promote tumour growth, whilst in others they act as tumour suppressors. The reason is … Continue Reading Researchers map Notch mutations in bladder cancer.
Researchers from Stanford University have identified a molecular network that comprises many of the genes previously shown to contribute to autism spectrum disorders. The findings provide a map of some of … Continue Reading Researchers begin to map neurogenetic pathway, find new cell is involved in Autism Spectrum.
Premature ovarian failure, also known as primary ovarian insufficiency (POI), affects 1% of all women worldwide. In most cases, the exact cause of the condition, which is often associated with … Continue Reading Genetic mutation identified as cause of human ovarian failure.
An international consortium of researchers led by Baylor College of Medicine has identified for the first time a gene associated with familial glioma (brain tumours that appear in two or … Continue Reading Researchers have identified the first gene associated with familial glioma.
Howard Hughes Medical Institute (HHMI) scientists have developed a strategy for finding disease-causing mutations that lurk in only a small fraction of the body’s cells. Such mutations can cause significant … Continue Reading New gene technique identifies hidden causes of brain malformation.