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…

New Strategy for Treatment of Neurodegenerative Diseases with Axonopathy
DiAntonio, Aaron ; Geisler, Stefanie ; Mao, Xianrong ; Milbrandt, Jeffrey ; Summers, Daniel
T-017543

— Value Proposition: This invention uses a novel gene therapy that blocks the axon degeneration typical of neurodegenerative diseases. Technology Description Researchers at Washington University in St. Louis have developed a new strategy for treatment of neurodegenerative diseases with axonopathy…

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…