By studying the genomes of more than 24,000 individuals, researchers discovered rare genetic mutations that may shed light on mechanisms underlying schizophrenia.
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.
Scientists study pluripotent stems cells to understand early development and how to use them in regenerative medicine, disease modeling, and drug discovery.
While studying a rare genetic disease, researchers discovered a signaling pathway linked to the efficiency of reprogramming somatic cells into stem cells.