A revolutionaly technique helps cure 9-year-old girl who was Stanford Children's Health's 1,000th stem cell transplant patient.
Euan Ashley, professor of medicine and genetics, tells the stories of his patients with rare or mystery diseases through his new book, The Genome Odyssey.
Stanford researchers have found a good drug target for treating Diamond-Blackfan anemia, a genetic disease that impairs red blood cell formation.
The care Bethel Tan received at Stanford Hospital after surgery to treat moyamoya disease inspired her to pursue a career in nursing.
In his quest to cure his daughter’s ultra-rare disease, Matt Wilsey might also be changing the way drugs are made, Stanford Business magazine reports.
A method that broadens the pool of potential donors for stem cell transplants recently saved two young brothers from a severe genetic disease.
Researchers leverage studies in fruit flies to identify a potential treatment for people with neurodegenerative disorder called spinocerebellar ataxia.
Stanford researchers led by Gill Bejerano have developed an algorithm that can rapidly inform diagnoses using clinical records.
A network of doctors that aims to diagnose mystery diseases has named 31 newly identified conditions and diagnosed more than 100 previously unsolved cases.
Fanconi anemia inspired a collaboration between Stanford scientists to develop a method for detecting problematic molecules known as aldehydes.
A new Clinical Genomics Program at Stanford will improve the diagnosis of rare genetic diseases, benefiting patients such as Tessa and Colton Nye.
It’s too good to be true: A girl is born with an extraordinarily rare disease. Her parents search for answers, enlisting top scientists from around …
For doctors, a rare disease can be a frustrating mystery. It poses challenges they haven't learned about in medical school or encountered in practice, and …
Get comfy: The 2016 edition of Experts by Experience is hot off the press, and you'll want to dive right in to this collection of …
If you suffer from a very rare disease, getting the proper diagnosis can be an arduous journey. But a bigger challenge may be the feeling …