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 ...
February is Rare Disease Month, an annual effort to highlight the challenges families can face while navigating rare ...
More than half of all men with Klinefelter syndrome (KS) are unaware that they have the condition. Among those who do receive ...
Biomedical engineers at Duke University have demonstrated a promising new approach that could be used to treat a rare and ...
This study identifies 47,350 enhancers active in human neurons during differentiation and links some to genes involved in ...
The SynGAP Research Fund 501(c)(3) dba Cure SYNGAP1 proudly announces the release of its inaugural Impact Report, a ...
According to the experts, humans will look a lot more uniform in the future. They predict the average person will have darker ...