A revolutionaly technique helps cure 9-year-old girl who was Stanford Children's Health's 1,000th stem cell transplant patient.
Tag: rare disease
Disease detective tells stories of mystery diseases in new book
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.
Seeking a less-burdensome treatment for Diamond Blackfan anemia
Stanford researchers have found a good drug target for treating Diamond-Blackfan anemia, a genetic disease that impairs red blood cell formation.
Inspired by a stay at Stanford Hospital, a teacher becomes a nurse
The care Bethel Tan received at Stanford Hospital after surgery to treat moyamoya disease inspired her to pursue a career in nursing.
A father’s search for a cure leads him to a Stanford lab
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.
Two young brothers saved by new stem cell transplant technique
A method that broadens the pool of potential donors for stem cell transplants recently saved two young brothers from a severe genetic disease.
From flies to humans — connecting the dots to find a potential treatment for a progressive movement disorder
Researchers leverage studies in fruit flies to identify a potential treatment for people with neurodegenerative disorder called spinocerebellar ataxia.
New algorithm could accelerate diagnosis of genetic diseases using clinical records
Stanford researchers led by Gill Bejerano have developed an algorithm that can rapidly inform diagnoses using clinical records.
More than 100 patients with mystery diseases find answers
A network of doctors that aims to diagnose mystery diseases has named 31 newly identified conditions and diagnosed more than 100 previously unsolved cases.
Stanford researchers collaborate to develop test for a rare and deadly disease
Fanconi anemia inspired a collaboration between Stanford scientists to develop a method for detecting problematic molecules known as aldehydes.
The essence of precision health: Clinical Genomics Program to open at Stanford this spring
A new Clinical Genomics Program at Stanford will improve the diagnosis of rare genetic diseases, benefiting patients such as Tessa and Colton Nye.
How a rare disease led Stanford researchers to a cancer discovery
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 …
How doctors are battling “an unknown enemy”
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 …
“At my core, I’m just like everyone else”: An anthology of patients’ stories
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 …
A look at how social media helps connect patients with rare diseases
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 …