Rare genetic cause of peritoneal mesothelioma points to targeted therapy


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.

Huge genetic diversity among Papuan New Guinean peoples revealed


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.

Humans still evolving, large-scale study of genetic data shows


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.

New genetic risk factor for developing autism spectrum disorder identified


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.

You and some 'cavemen' get a genetic checkup


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?