Tandem Mass Spectrometry Assay of Beta-Galactosidase for Multiplex Newborn Screening of GM1 Gangliosidosis

Michael H. Gelb (Principal Investigator)

Arun Kumar (Postdoctoral Research Fellow)

Xinying Hong (PhD Student)


We are pleased to announce a new Cure GM1 Foundation grant towards advancing the process of newborn screening for GM1 Gangliosidosis.  Since new treatments are being developed for GM1 gangliosidosis (mainly gene therapy), it is prudent to be ready to add newborn screening to a lysosomal storage disease panel so that early treatment can be initiated in affected newborns in the future.


The assay development is anticipated to be completed in 2019 and the direct cost of the grant is $20,000.


The goals of the grant are as follows:


1) To develop a substrate and internal standard for tandem mass spectrometry (MS/MS) measurement of the enzymatic activity of beta-galactosidase for newborn screening of GM1 gangliosidosis that can be multiplexed with other enzymes and biomarkers of interest in newborn screening.


2)  To verify that the assay works using dried blood spots from healthy patients and from GM1 gangliosidosis patients. 


Personnel Background:


Michael H. Gelb,  Professor of Chemistry, Univ of Washington, since 1985.  

World leader in the development of newborn screening assays especially for lysosomal storage diseases.


Arun Kumar, Postdoctoral research fellow in the Gelb Laboratory

He has developed published assays for lysosomal enzymes relevant to newborn screening.  He conducts organic synthesis of required assay reagents.


Xinying Hong,  PhD student in the Gelb Laboratory

She has developed published assays for lysosomal enzymes relevant to newborn screening. She has analytical chemistry experience for assay development.