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.
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.
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.