By bringing genetics into clinical medicine, the University of British Columbia medical geneticist helped to identify the gene mutations responsible for many rare diseases.
Certain populations have been historically underrepresented in genome sequencing studies, but the NIH, private clinics, and 23andMe and other companies are trying to fix that.
Clinical trials that target human endogenous retroviruses to treat multiple sclerosis, ALS, and other ailments are underway, but many questions remain about how these sequences may disrupt our biology.
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.
This year’s crop of winning products features many with a clinical focus and others that represent significant advances in sequencing, single-cell analysis, and more.
Rodrigo Calado and Neal Young | May 1, 2012 | 10+ min read
Telomeres have been linked to numerous diseases over the years, but how exactly short telomeres cause diseases and how medicine can prevent telomere erosion are still up for debate.