European Journal of Medical Genetics

June 27, 2023

Rare disorder sheds light on dysbindin function

A case study of a rare disorder uncovers roles for the protein dysbindin in the adaptive immune response and suggests that mutations may underlie some cases of very early onset inflammatory bowel disease.

By Sarah E. Glass

June 26, 2013

Insights on glaucoma gene mutations

Glaucoma-causing mutations in the gene for myocilin reduce secretion of the protein into the aqueous humor, suggesting a new option for treatment.