Brianna Chrisman and Jordan Eizenga | Sep 1, 2022 | 10+ min read
Thirty years out from the start of the Human Genome Project, researchers have finally finished sequencing the full 3 billion bases of a person’s genetic code. But even a complete reference genome has its shortcomings.
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.
The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett syndrome, and advanced the field of molecular diagnostics.
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.