Orphan and Rare Diseases Summaries

Neurofibromin/dopamine signaling as a biomarker for cognitive and behavioral problems in children with neurofibromatosis type 1 (NF1)
Anastasaki, Corina ; Gutmann, David
T-015422

— Background: Neurofibromatosis type 1 (NF1) is a common neurological condition affecting roughly 1 in every 2,500 individuals. NF1 is associated with a host of clinical presentations, including malignant tumors and cognitive defects ranging from attention deficits, mental retardation, and autism. The…

Treatments for Wolfram syndrome
Clark, Amy ; Mahadevan, Jana ; Urano, Fumihiko
T-015862

— Technology Description Dr. Fumihiko Urano at Washington University in St. Louis (WUSTL) and colleagues have developed therapeutic strategies to treat Wolfram syndrome. Wolfram syndrome is a rare, life-threating, genetic disorder characterized by insulin-dependent diabetes mellitus, diabetes insipi…