The University of Washington researcher leveraged data from the Human Genome Project to identify genes underlying various health conditions and advance precision medicine.
In just 16 months, physicians went from identifying a novel rare disease in three-year-old Marley to successfully treating her with a drug previously used to treat African sleeping sickness and pediatric cancer.
Many major biopharmaceutical companies are developing or acquiring drugs that target the NLRP3 inflammasome, a large intracellular complex that researchers say can spark inflammation and stoke diseases of lifestyle and aging.
A review of 36 individuals’ sequencing results performed by three US labs finds thousands of genes that were never fully sequenced to industry standards.
As the first personalized cell and gene therapies are approved from small clinical trials, researchers propose the creation of publicly accessible databases to pull together real-world results.