MPP: Molecular Pathophysiology of Parkinson’s disease
ICM

Axe 1 : Génomique, cellules humaines, reprogrammation et neuro-organoïdes
Genetics of Parkinson’s disease.
Research topics:
Genetics of Parkinson’s disease. Discovery of new genes responsible for autosomal
recessive forms of the disease. Disease modeling using brain organoids derived
from human pluripotent stem cells, with a particular focus on neuroinflammatory
mechanisms and mitochondrial dysfunctions.
The 3 main goals of the Molecular Physiopathology of Parkinson’s Disease team are:
Identify new genetic factors of disease, such as genes responsible for familial forms, genes modifying progression or response to treatments, or non-coding elements of the genome affecting the biology of neurons.
To characterize molecular mechanisms responsible for disease, particularly those linked to PINK1 and Parkin dysfunction, and to study their effects on neuronal and immune cell biology.
Develop new clinical-genetic strategies for personalized prediction medicine.
Main techniques
Exome sequencing, long range genome sequencing and prediction of rare causative variants.
Production of brain organoids and assembloids for IPS cells with and without microglial Integration.
scRNAseq, quantitative histology and bio-Informatic analysis.
Hôpital Pitié-Salpêtrière 47 bd de l’Hôpital 75013 Paris
Team leader :
RAVASSARD Philippe
Name of co-team leader :
CORVOL Jean-Christophe
Administrative Contact Name :
Website : Cliquez ici
Key words : #Maladie de Parkison#Nouveaux variants causals des formes autosomales récessives#Organoïdes cérébraux#Microglie#scRNAseq #Parkinson's disease#New causal variants for autosomal recessive forms#Brain organoids#Microglia#scRNAseq