Several companies—including JCR Pharmaceuticals, Denali Therapeutics and Regenxbio— have products in the pipeline that could ...

Despite having gone through this before with her first son, Yusof, and despite the doctors explaining that this was a gene ...

Mutations in the X chromosome often cause intellectual disability, and women born with just one X chromosome (a diagnosis ...

Chromosomes showed del(17)(q23.1-->q24.2); the more severe phenotype may be explained by the deletion. The deletion also suggests the possibility that the gene for Hunter-McAlpine syndrome might ...

Most people carry two "versions" of the first 22 chromosomes ... as far back as when humans were hunter-gatherers. The six individuals we identified with Down syndrome were all from Europe ...

In these cases, Down syndrome is caused by a translocation of chromosomes 15 and 21 (Figure 3), in which the long arms of two acrocentric chromosomes are translocated to produce a single long ...

Denali’s wholly owned program, DNL310 or tividenofusp alfa, is an Enzyme Transport Vehicle-enabled iduronate-2-sulfatase (IDS) replacement therapy in development for MPS II (Hunter syndrome).