Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder.

Gaucher disease (GD) is a metabolic disorder caused by mutations in the , located on 1q22. This gene encodes glucocerebrosidase (glucosylceramidase) enzyme. GD has a wide range of clinical manifestations from a perinatally lethal type to an asymptomatic form.

CRISPR/Cas9 technology in the modeling of and treatment of mucopolysaccharidosis.

Mucopolysaccharidosis (MPS) syndromes are a group of heterogeneous genetic disorders in terms of genetic basis and clinical manifestations, ranging from mild to fatal forms. There are a number of applied or prospective treatment modalities for MPS, including bone marrow transplantation, enzyme replacement therapy, targeted gene therapy and substrate reduction therapy. Recently, CRISPR/Cas9 technology has emerged as a novel tool for several metabolic disorders, such as MPS.

CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C.

Niemann-Pick disease type C (NPC) is a rare neurodegenerative condition resulted from mutations in NPC1 and NPC2 genes. This cellular lipid transferring disorder mainly involves endocytosed cholesterol trafficking. The accumulation of cholesterol and glycolipids in late endosomes and lysosomes results in progressive neurodegeneration and death.

Non-coding RNAs: A new frontier in benzene-mediated toxicity.

One of the most frequent environmental contaminants, benzene is still widely used as an industrial solvent around the world, especially in developing nations, posing a serious occupational risk. While the processes behind the toxicity of benzene grounds are not fully understood, it is generally accepted that its metabolism, which involves one or more reactive metabolites, is crucial to its toxicity. In order to evaluate the many ways that benzene could influence gene regulation and thus have an impact on human health, new methodologies have been created.