Guillaume Cogan, MD
Area of Focus
- Neurogenetics
- Genetics of Parkinson’s
- Monogenic
Biography
As a resident in medical genetics, I’ve been seeing patients with various neurodegenerative disorders (spastic paraplegia, spino-cerebellar ataxia, frontotemporal dementia, amyotrophic lateral sclerosis, Parkinson’s disease etc.) and try to identify the genetic origin of patient’s disease.
On the research side, I got introduced to the genetics of PD during my medical thesis which consisted of the analysis of whole exome sequencing data of ~ 1000 PD cases and relatives. After the thesis defense, I selected the negative most interesting cases to perform a whole genome long-read sequencing at the Center for Alzheimer’s and related dementia, NIH, USA during my master’s degree internship in 2023. The analysis is still ongoing.
In line with those works, I started my PhD in January 2024 at the Paris Brain Institute. In addition to the search of new PD genes with high-throughput sequencing methods, I will run a GWAS to identify age at onset and penetrance modifiers of individuals with a LRRK2 G2019S variant during the course of my PhD.