Investigators have uncovered a new genetic cause of mesothelioma: a genetic rearrangement in the ALK gene, observed in three patients with peritoneal mesothelioma. Unlike previously known causes, this new discovery points to a potential therapeutic approach for those few patients whose tumors harbor the mutation.
The first large-scale genetic study of people in Papua New Guinea has shown that different groups within the country are genetically highly different from each other. Scientists reveal that the people there have remained genetically independent from Europe and Asia for most of the last 50,000 years, and that people from the country’s isolated highlands region have been completely independent even until the present day.
Researchers have uncovered a new genetic cause for erythropoietic protoporphyria (EPP), a photosensitive blood disorder.
Scientists find a rare genetic variant that shows strong association with schizophrenia.
In a study analyzing the genomes of 210,000 people in the United States and Britain, researchers have found that the genetic variants linked to Alzheimer’s disease and heavy smoking are less frequent in people with longer lifespans, suggesting that natural selection is weeding out these unfavorable variants in both populations.
A new systematic analysis has been applied to a cohort of 2,300 families who have a single child affected with autism. The study focused on identifying and characterizing low-lying genetic mutations that may have been missed in previous research, given these mutations are only present in a fraction of the bulk DNA of an individual.
An extensive exercise to map genetic variation in Sweden has found 33 million genetic variants, 10 million of which are novel. Large-scale DNA sequencing methods were used to analyse the whole genome of 1000 individuals from different parts of the country.
Evolution has weeded out genetic variants associated with diseases for millennia and propagated variants that protect against ailments, a comparative genetics study shows. But in the last 500 to 1,000 years that trend appears to have changed. Is the apparent reversal in genetic health underpinnings real? Or an odd coincidence in the early data set of this very new research field?
Scientists have created healthy offspring from genetically infertile male mice, offering a potential new approach to tackling a common genetic cause of human infertility.
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, according to a new study. The findings offer novel insights into the genetic contribution to varying immune responses among individuals and its consequences on immune-mediated diseases.