Jess Gilbert Thoene

Abstract Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in CTNS, which encodes cystinosin, a H+/cystine symporter that mediates cystine efflux from lysosomes. Defective cystinosin leads to accumulation of cystine in lysosomes and the formation of cystine crystals in most tissues.

Abstract Cystinosis is a lysosomal storage disease that is characterized by the accumulation of dipeptide cystine within the lumen. It is caused by mutations in the cystine exporter, cystinosin. Most of the clinically reported mutations are due to the loss of transporter function. In this study, we identified a rapidly degrading disease variant, referred to as cystinosin(7Δ). We demonstrated that this mutant is retained in the ER and degraded via the ER-associated degradation (ERAD) pathway.

Marshall L. Summar, MD: I am Marshall Summar, chief of genetics and metabolism at Children's National Medical Center in Washington, DC, for Medscape Rare Diseases. I am at the National Organization for Rare Disorders (NORD) Rare Diseases and Orphan Products Breakthrough Summit, speaking with Dr Jess Thoene, one of the founders and pioneers in the field of inborn errors in metabolism in rare diseases. Dr Thoene is professor of pediatrics at the University of Michigan.