Managing the unpredictable symptoms of indolent systemic mastocytosis prompted a search for answers and community.
This was missed by doctors when she was pregnant with her first son, Nathan, who she gave birth to in 2007, as doctors told ...
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Long reads can revolutionize genetic diagnosis of rare diseasesThe cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces-short reads.
The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...
He was taken to Red Cross War Memorial Children's Hospital in Cape Town where he was diagnosed with a rare condition in which ...
The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...
It’s a rare genetic disorder that impacts a small population, and due to limited research, much remains unknown about ...
Overcoming the doctor’s ego is a first hurdle for many rare disease patients in search of a diagnosis. This article is the ...
Apprehension for Oliviero Toscani, 82 years old, hospitalized since this morning in the emergency room at the Cecina hospital ...
Adds an additional commercial and strategic rare disease product to Eton’s portfolioGalzin is FDA-approved for the treatment ...
Altruism values for treatments of rare, severe pediatric diseases have not been estimated. This study found the altruism value for a hypothetical new Duchenne muscular dystrophy treatment to be $80 ...
Rare by Design is a pioneering non-profit organization dedicated to fostering a world where individuals with rare diseases ...
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