Rare diseases are an area of growing interest for pharmaceutical companies and nonprofit laboratories worldwide. In an uncharacteristically optimistic new review published in Nature Gene Therapy, top researchers and public health officials applaud the recent fruits of collaborative science as facilitated by advanced software and inter-agency cooperation in the field […]

The cost of full genome sequencing has dropped precipitously, bringing it into the price range for use in public health. Source: https://www.genome.gov/ Finally, doctors and geneticists may be able to hash out clinical risk profiles beyond high, medium, or low risk with the help of dense genotyping. With the cost […]

A Manhattan plot showing results of a typical genome wide association study. Source: “Four Novel Loci Influence the Microcirculation In Vivo.” Ikram MK et al, 2010, http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1001184 Biologists and medical doctors everywhere will be surprised to hear that a few canny geneticists have discovered a new disease risk etiology unlike […]