Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...
Autosomal recessive polycystic kidney disease (ARPKD) is associated with significant mortality and morbidity, and currently, there are no disease-specific treatments available for ARPKD patients. One ...
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 ...
Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...
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 ...
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 ...
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 ...
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