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 ...
New review highlights evolving Pompe disease management, from screening to next-generation therapies and monitoring. Read ...
A mother of two experienced falls, vision problems and memory loss due to a rare condition, MTHFR-related autosomal recessive ...
Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...
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 ...
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.
Stewart Altman, wheelchair-bound, fights for cure as gene therapy shows promise. May 13, 2011— -- For 26 years, doctors could not piece together the medical puzzle of Stewart Altman's symptoms -- ...
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 ...
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