Speaker:
Matthew P.A. Henderson, PhD, FCACB, FCCMG. Biochemist. Newborn Screening Ontario, The Children’s Hospital of Eastern Ontario.
Matthew Henderson is a Laboratory Head and Biochemist at Newborn Screening Ontario and an Assistant Professor in the Department of Pediatrics at the University of Ottawa, Canada. He is a fellow of the Canadian Academy of Clinical Biochemistry and the Canadian College of Medical Geneticists with a subspecialty in Laboratory Biochemical Genetics. His work is focused on improving the accuracy and efficiency of newborn screening through both development and optimization of biochemical assays as well as development of data analysis approaches and tools.
Overview:
Mucopolysaccharidoses type 1 (MPS-1) is a lysosomal storage disorder caused by iduronidase deficiency. MPS-1 Hurler, the severe form of MPS-1, is a lethal progressive multi-system disease with rapid cognitive impairment. Treatment with enzyme replacement therapy and stem cell transplantation is most beneficial if initiated in the first year of life. Newborn Screening Ontario added MPS-1 Hurler to the Ontario newborn screening panel in 2020. This presentation will discuss development of the high-throughput fluormetric iduronidase activity assay used for first tier screening, the combined biochemical and molecular screening process and our experience to date.
Objectives:
At the end of this activity, participants will be able to:
- Provide a brief review of glycosaminoglycan degradation.
- Discuss the benefits of newborn screening for MPS-1 Hurler.
- Understand the fluormetric iduronidase assay used for first tier MPS-1 Hurler screening.
- Discuss the combined biochemical and molecular screening process for MPS-1 Hurler