Rana  A. Almuhur, 
    Genome Editing and Gaucher Disease Treatment,
    Research Journal of Biological Sciences,
    Volume 16,Issue 2,
    2021,
    Pages 9-16,
    ISSN 1815-8846,
    rjbsci.2021.9.16,
    (https://makhillpublications.co/view-article.php?doi=rjbsci.2021.9.16)
    Abstract: In the present review, data published on
Gaucher Disease (GD) signcommon treatments was
comprehensively examined, focusing on CRISPR/Cas9 as
the most promising tool for treatment and understanding
correlations between pathophysiological disease
complications and related neurodegeneration and
neuroinflammation. GD is an inherited autosomal
recessive, lysosomal monogenic disease. Changes in the
GBA gene sequence encoding acid β-glucocerebrosidase
lead to classical and sequential defects, such as lysosomal
accumulation of glycosphingolipids, glucosylceramide
and glucosylsphingosine, in reticuloendothelial
descendants and macrophages. Glucosylceramide
deposits in macrophages eventually result in the
functional impairment of various tissues, including bone
marrow, spleen, and liver, causing additional
complications. A neurological hallmark of GD is GBA1
mutation, considered a key factor in Parkinson’s disease
development. Hence, GD patients are grouped into
three categories according to their defect level and
affected organ(s): non-neuropathic (type I), acute
neuropathic (type II) and chronic neuropathic (type
III). Enzyme replacement therapy and substrate
reduction are effective treatments for type I GD.
However, they are expensive and lifelong, necessitating
development of novel therapeutic techniques that
successfully treat all types of GD in a cost-effective,
robust manner. In particular, <i>in vivo</i>, <i>ex vivo</i> and <i>in
vitro</i> gene therapy research has shown the
CRISPR/Cas9 system to be an efficient gene editing
tool widely considered to be a new key player in the
treatment of genetically inherited diseases.
CRISPR/Cas9 technology was used to produce two
isogenic GD Model cell lines with induced GBA1
mutations (THP-1 from monocytes and U87 from
glioblastoma) relevant to affected cells in GD
patients. Additional research and development of
advanced CRISPR/Cas9 systems able to deal with
complex situations seen in some GD cases is needed
where attention to controlling extra downstream
sequences beyond target genes, multi-allelic defects
and/or target genomic sequences sharing a high rate of
similarity with other vital functional sequences is
considered.
    Keywords: &#945;-synuclein;gene editing;CRISPR/Cas9;acid &#946;-glucosidase;Gaucher disease;neuro inflammation;Parkinson’s disease