Personal Health

Solving a medical mystery: Cause of rare type of dwarfism discovered

For children born with Saul-Wilson syndrome, and their parents, much of their lives are spent searching for answers. First defined in 1990, only 14 cases are known worldwide. And the cause of the syndrome—characterized by short stature, microcephaly (small head), hearing loss and early developmental delays—remained unknown. Today, these individuals have answers. “This is the […]

Personal Health

New algorithm could improve diagnosis of rare diseases

Today, diagnosing rare genetic diseases requires a slow process of educated guesswork. Gill Bejerano, Ph.D., associate professor of developmental biology and of computer science at Stanford, is working to speed it up. In a paper published July 12 in Genetics in Medicine, Bejerano and his colleagues describe an algorithm they’ve developed that automates the most […]