In a journey that spanned the genomes of more than 150,000 Icelanders, archival samples, and a fetus in utero, researchers not only identified genetic variants missing from the population, but also proved that these missing mutations cause three rare genetic diseases.
Wolfram Syndrome is a rare disease that causes a myriad of challenges, including deafness, diabetes, and depression. New research suggests that an agonist used to treat neurodegenerative disorders may help alleviate some of the symptoms.
Researchers around the world are on a mission to bank biological samples from millions of people. So far, these efforts have disclosed the effects of arsenic exposure on the genome, supported development of early cancer diagnostics, and even revealed the ideal timing for COVID-19 boosters.