by Madaline Spencer | Apr 8, 2024
Julia Alton, Executive Director at the Canadian Fabry Association, discusses the organization’s mission and their initiatives. Fabry disease is a lysosomal storage disease characterized by insufficient alpha-galactosidase (alpha-GAL). The deficiency of...
by Madaline Spencer | Apr 4, 2024
Petra Oliva, PhD, Archimed Life Science, discusses newborn screening for metachromatic leukodystrophy (MLD). MLD is a genetic disorder caused by mutations in the ARSA or PSAP genes, which result in a deficiency of the enzyme arylsulfatase A and a...
by Madaline Spencer | Apr 3, 2024
Leslie Urdaneta, Director of Family Support and Communication at the National MPS Society, discusses methods to start conversations about palliative care with families. Ms. Urdaneta describes the importance of starting palliative care conversations in...
by James Radke, PhD | Apr 2, 2024
Sarah Cortell Vandersypen, Executive Director of the United MSD Foundation, discusses the organization’s work with multiple sulfatase deficiency. The United MSD Foundation is an international patient advocacy group focused on providing support for...
by Madaline Spencer | Mar 27, 2024
Priya Kishnani, MD, Professor of Pediatrics at Duke University Medical Center, discusses intrauterine treatment for lysosomal diseases. The study, “Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a...
