Archive for orphan diseases
DADA2: Working together to unpack a rare mystery illness
When Vanessa was a few months old, a mysterious red, bumpy rash appeared on her arms and legs. It would go away when she was sick with a virus, then come back. Although the rash disappeared for good just before she turned 2, Vanessa became anemic and increasingly fatigued. “She was fading away, losing weight, ... Read More about DADA2: Working together to unpack a rare mystery illness
Solving medical mysteries: The Undiagnosed Disease Network
At first, Corrie and Adam Mendes thought their daughter Emmie had an inner ear problem. She was late with several early milestones, including walking, and when she did walk, she often lost her balance. The family pediatrician sent them to a neurologist, who ordered a brain MRI and diagnosed her with pachygyria, a rare condition ... Read More about Solving medical mysteries: The Undiagnosed Disease Network
‘Heart on a chip’ suggests a surprising treatment for a rare genetic disease
It was the variability that intrigued pediatric cardiologist William Pu, MD, about his patient with heart failure. The boy suffered from a rare genetic mitochondrial disorder called Barth syndrome. While he ultimately needed a heart transplant, his heart function seemed to vary day-to-day, consistent with reports in the medical literature. “Often patients present in infancy with severe ... Read More about ‘Heart on a chip’ suggests a surprising treatment for a rare genetic disease
Inherited autism mutations found via genomic sequencing in Mideast families
Autism clearly runs in some families, yet few inherited genetic causes have been found. A major reason is that these causes are so varied that it’s hard to find enough people with a given mutation to establish a clear pattern. Now, three large Middle Eastern families with autism spectrum disorders (ASDs) have led the way ... Read More about Inherited autism mutations found via genomic sequencing in Mideast families
Pediatric complex care: A day in the life
This is the first post of a two-part series on children with complex medical needs. Details on some patients have been changed for privacy reasons. This morning, as every morning, the Complex Care Service (CCS) team huddles in a tiny office deep inside Boston Children’s Hospital. They have 14 patients to discuss, each with a ... Read More about Pediatric complex care: A day in the life
Orphan diseases: Bringing academia, industry, and government into the game
“If you build it, he will come,” the ghosts of baseball players past tell a farmer in Field of Dreams. But it’s not that easy. To put people in the seats you have to have all of the right pieces: the right team, including players and managers; the right park, one that works for both ... Read More about Orphan diseases: Bringing academia, industry, and government into the game