Contribution of rare variant associations to neurodegenerative disease presentation

September 2021
Journal: npj Genomic Medicine
Lead Author: Allison A. Dilliott

All Authors: Allison A Dilliott, Abdalla Abdelhady, Kelly M Sunderland, Sali M K Farhan, Agessandro Abrahao, Malcolm A Binns, Sandra E Black, Michael Borrie, Leanne K Casaubon, Dar Dowlatshahi, Elizabeth Finger, Corinne E Fischer, Andrew Frank, Morris Freedman, David Grimes, Ayman Hassan, Mandar Jog, Sanjeev Kumar, Donna Kwan, Anthony E Lang, Jennifer Mandzia, Mario Masellis, Adam D McIntyre, Stephen H Pasternak, Bruce G Pollock, Tarek K Rajji, Ekaterina Rogaeva, Demetrios J Sahlas, Gustavo Saposnik, Christine Sato, Dallas Seitz , Christen Shoesmith, Thomas D L Steeves, Richard H Swartz, Brian Tan, David F Tang-Wai, Maria C Tartaglia, John Turnbull, Lorne Zinman, ONDRI Investigators; Robert A Hegele

Genetic factors contribute to neurodegenerative diseases, but this is still largely poorly understood. Many previous studies have attempted to fill the gaps by performing studies in individual diseases. This study used a custom designed ONDRI gene panel to explore genetic overlap across the neurodegenerative diseases. The results indicate that there may be greater heterogeneity in the genetic factors contributing to neurodegeneration than previously appreciated.