Activating complex regions of the genome to treat rare diseases: Researchers identify a a master epigenetic switch
Biomedical engineers at Duke University have demonstrated a promising new approach that could be used to treat a rare and ...
Simple treatment can save lives for men with a common chromosomal disorder
More than half of all men with Klinefelter syndrome (KS) are unaware that they have the condition. Among those who do receive ...
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Gene variant could protect against ultra-rare seizure disorder, fruit fly research finds
A combination of human pedigree analysis and fruit fly genetics has identified a gene variant that appears to prevent PIGA-CDG, a rare but serious seizure disorder. The findings could ultimately lead ...
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Portugal. The Man highlight rare disease month as bandmember’s daughter battles genetic disease
February is Rare Disease Month, an annual effort to highlight the challenges families can face while navigating rare ...
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The exceptionally rare disease that causes holes to form in your brain
Creutzfeldt-Jakob disease is an extremely rare and fatal brain-wasting disease that's like a human version of "mad cow." ...