The Brigham and Women's Hospital, Inc.

The Broad Institute, Inc.

Dana-farber-cancer Institute Inc.

Instituto Carlos Slim De La Salud, A.c.

Joseph Growney

Florence Fevrier Wagner

Anna Greka

Brian T Chamberlain

Maria Alimova

Eric Lander

Todd R Golub

Moran Dvela-Levitt

Valeria Padovano

David Kornfilt

The present disclosure relates to compositions and methods for the diagnosis and treatment or prevention of proteinopathies, particularly MUC1-associated kidney disease (ADTKD-MUC1 or MKD), Retinitis Pigmentosa (e.g., due to rhodopsin mutations), autosomal dominant tubulo-interstitial kidney disease due to UMOD mutation(s) (ADTKD-UMOD), and other forms of toxic proteinopathies resulting from mutant protein accumulation in the ER or other secretory pathway compartments and/or vesicles, among others. The disclosure also identifies and provides TMED9-binding agents as capable of treating or preventing proteinopathies of the secretory pathway, and further provides methods for identifying additional TMED9-binding agents.

Agents for reversing toxic proteinopathies

The present disclosure relates to compositions and methods related to bicyclo[2.2.1] heptanamine-containing compounds and salts.

Compositions and methods related to di-substituted bicyclo[2.2.1] heptanamine-containing compounds

Growing community of inventors

Cambridge, MA, United States of America

Joseph Growney