Niemann-Pick Carrier Screening
The Quinn Madeleine Foundation establishes first-ever Niemann-Pick diagnostic carrier screening program Aiming to eradicate fatal ASMD, The Quinn Madeleine Foundation has partnered with Baby Genes to create a diagnostic carrier screening program for at-risk individuals. FOR IMMEDIATE RELEASE - October 27, 2016 The Quinn Madeleine Foundation has partnered with Baby Genes Inc. to provide diagnostic carrier screening at no charge to hundreds of people impacted by Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Disease Types A & B, a severe lysosomal storage disorder. Type A (NPA) is always fatal by toddlerhood. Baby Genes’ gene sequencing technology provides accurate, efficient results identifying any disease-causing mutation, not just the common mutations recognized by traditional carrier screenings. Today there is neither treatment nor a cure for NPA. Providing access to this test will enable prospective parents to make the best, most informed decisions in their family planning. “Our unified goal is to facilitate the discovery of new molecular targets and provide actionable information to those bringing new therapy options to patients and families," said President/CEO of Baby Genes, Inc. Rich Sjogren. The program is currently open to any family member of an affected child, though it intends to go further. “The long-term goal is to consider the possibility of an ethnicity pattern, identifying a higher-risk general population and offering more widespread screening,” says Eileen Linzer, Co-Founder & Executive Director of The Quinn Madeleine Foundation. Clients screened are asked to complete a self-reported Ethnicity Survey to assist in this research. To learn more, contact The Quinn Madeleine Foundation at genetics@quinnmadeleine.org.
