TY  - JOUR
AU  - Ryan, Emory
AU  - Jong, Tiffany
AU  - Sidransky, Ellen
PY  - 2022
DA  - 2022/09/26
TI  - Newborn Screening in Gaucher Disease: A Bright and Complicated Future
JO  - OBM Genetics
SP  - 165
VL  - 06
IS  - 03
AB  - Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 3.2.1.45). Clinical manifestations are heterogenous and can include splenomegaly, anemia, and neurological impairments in the case of neuronopathic Gaucher disease types 2 and 3. Newborn screening, arguably the most important public health initiative to date, has been regularly conducted on newborns in the United States since the 1960s. The development of new low-cost screening methods and effective treatments are motivating the inclusion of GD and other lysosomal storage disorders in population-wide newborn screens. In this article, we review the history of newborn screening for GD, the screening methods used, and ethical considerations and challenges regarding the successful implementation of population-based newborn screening for GD.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2203165
DO  - 10.21926/obm.genet.2203165
ID  - Ryan2022
ER  -