Study explains long-standing question of why Huntington’s disease symptoms typically do not appear until midlife even though ...

Discover Sanfilippo Syndrome a rare genetic disorder affecting childrens development Learn about its symptoms treatment ...

Can we take genetic "pills" for disease-related mutations? No ... Fabry disease, mucopolysaccharidosis I, mucopolysaccharidosis II, mucopolysaccharidosis VI, and Pompe's disease).

Mucopolysaccharidosis (MPS ... We report the allele frequency of common mutations for each gene in our patient cohort and the exonic distribution of coding sequence alterations in the IDS ...

Regenxbio will receive $110m upfront from Nippon Shinyaku and is eligible to get up to $700m in development, regulatory, and ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...