Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...
A mother of two experienced falls, vision problems and memory loss due to a rare condition, MTHFR-related autosomal recessive ...
In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...
New review highlights evolving Pompe disease management, from screening to next-generation therapies and monitoring. Read ...
Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...
Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...
A patient report submitted to the FDA provides insights on living with ARPKD and unmet medical needs. An “ARPKD Therapeutic Development Roadmap” is forthcoming. Current treatments for autosomal ...
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