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Pontocerebellar hypoplasia (PCH) is a progressive neurodegenerative disorder resulting in serious mental and physical disabilities. Onset of the disease is prenatal and most patients die in childhood. Veerle Eggens investigates different subtypes of this rare disease, identifying novel genes associated with PCH. These form a starting point for further investigations into how certain mutations influence gene function and lead to PCH.

Event details of Finding genes for a rare neurodegenerative disease
Date 17 June 2016
Time 10:00 -11:00
Location Agnietenkapel
Room Location

V.R.C. Eggens: On the Origin of Pontocerebellar Hypoplasia: Finding Genes for a Rare Disease.


Prof. F. Baas


Dr B.T. Poll-The


Room Location

Oudezijds Voorburgwal 229 - 231
1012 EZ Amsterdam


This event is open to the public.