Rare disease

I have years of experience in working tightly with a patient organization and clinicians on a rare neurological disorder. I would be happy to join any consortium that assembles a range of rare diseases in an overarching project.

Specifically, I am working on pontocerebellar hypoplasia, a rare neurodegenerative disorder with onset in the neonatal period. We have generated patient-derived brain organoids to characterize disease mechanisms and develop therapeutic approaches. https://www.pch2cure.org/

https://sznbio.zoo.kit.edu/