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 ...

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 ...

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 ...

Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders 1. They found that most undiagnosed cases that are due to ...

Congenital factor VII deficiency is a rare, autosomal recessive disorder with an estimated prevalence of 1 in 1,000,000. We ...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder primarily caused by mutations in the SACS gene, which encodes the multifunctional protein sacsin.