Cyril Pottier, PhD

Cyril Pottier obtained his Ph.D. focused on the genetics of genetically unexplained young-onset Alzheimer’s disease (YOAD) in the laboratory of Dr. Campion in University of Rouen, France. His major contribution to the AD field was the identification of SORL1 as a potential causal gene for YOAD, publishing the first whole-exome study on YOAD patients. During his postdoctoral stay at Mayo Clinic Jacksonville, Florida within Dr. Rademakers laboratory, he discovered new risk factors, genetic modifiers and transcript alterations associated with frontotemporal lobar degeneration.   

As Assistant Professor at Washington University, he is now focusing his work on identifying new genetic risk factors and modifiers of early onset dementia using integrative and innovative approaches. He has a strong interest in disease modifiers in patients with PSEN1 mutations and is currently combining whole genome sequencing with short and long read single-nuclei RNA sequencing to address the variable disease presentation problematic. He is leveraging a large set of whole genome sequencing data of neuropathologically confirmed as well as highly characterized clinical genetically unexplained YOAD patients to discover new risk genes, and variants that modify disease onset and other associated neuropathologic features.