variant nucleotide), and Chr15:72,640,388C>T, c.1073+1G>A1. The c.986+3A>G alters a 5' exon-flanking nucleotide and is a known mutation that causes Tay-Sachs disease ('15D), a debilitating lysosomal storage disorder [Online Mendelian Inheritance in Man (OMIM) number 2728001. The variant had not previous

ay, humans born with congenital cognitive or behavioral issues are destined for unequal (albeit in most cases compassionate) treatment—Down syndrome, Tay-Sachs disease, Fragile X syndrome, cerebral palsy, and so on. And as we change geographical location and mature, our unequal rights change dramatically. E

ay, humans born with congenital cognitive or behavioral issues are destined for unequal (albeit in most cases compassionate) treatment—Down syndrome, Tay-Sachs disease, Fragile X syndrome, cerebral palsy, and so on. And as we change geographical location and mature, our unequal rights change dramatically. E