Inborn errors of (synaptic) neurotransmission

 APS Annual conference
Thursday 23.9.2021
08:30Welcome & Introduction
T. Opladen, Heidelberg
08:30 - 10:00Mechanisms of synaptic function and dysfunction
Chair: Diana Ballhausen, Natalie Weinhold
08:30Synapse function in the human central nervous system
F. Lopez Murcia, Göttingen
09:00Synaptic metabolism: a new approach to inborn errors of neurotransmission
A. Garcia-Cazorla, Barcelona
09:30Clinical presentation and disease mechanisms in genetic postsynaptic movement disorders
L. Abela, London
10:00Movement disorders in children and adults with treatable inborn errors of metabolism
D. Ebrahimi-Fakhari, Boston
10:30 - 11:00Coffeebreak | Poster | Industrial Exhibition
11:00 - 12:30Synaptic dysfunction in IEM
Chair: Sabine Scholl-Bürgi, Galina Stevanovic´
11:00Tetrahydrobiopterin (BH4) disorders: Pathophysiological consideration, clinical phenotype and treatment response
T. Opladen, Heidelberg
11:30Pathophysiological involvement of neurotransmitters in monogenetic pediatric epilepsies
S. Syrbe, Heidelberg
12:00Glycine encephalopathy
J. van Hove, Denver
12:30 - 14:00Lunchbreak | Poster | Industrial Exhibition
14:00 - 15:00Novel pathophysiological concepts in synaptic neurotransmission
Chair: Beat Thöny, Esther Maier
14:00Induced pluripotent stem cells (IPSC) modelling of movement disorders
S. Jung-Klawitter, Heidelberg
14:30Next generation sequencing, bioinformatic analyses and data integration in neurometabolic disorders DKFZ
D. Hübschmann, Heidelberg
15:00 - 15:30Free communications I
Chair: Sarah Grünert, Julia Hennermann
End of the scientific programme of the 1st day
15:30 - 16:00Coffeebreak | Poster | Industrial Exhibition
16:00 - 17:30APS members‘ meeting
Blauer Saal
18:30 - 19:30Networking Event (TBC)

from 19:30APS Dinner
 APS Annual conference
Friday 24.9.2021
08:30 - 10:00Free Communications II
Chair: Chris Mühlhausen, Martin Lindner
10:00 - 10:30Coffeebreak | Poster | Industrial Exhibition
10:30 - 12:00Modern diagnostic and treatment strategies
Chair: Georg F. Hoffmann, Thomas Lücke
10:30Next generation metabolic screening in CSF in neurometabolic disorders
K. Coene, Nijmegen
11:00Pharmacological and enzyme-replacement therapeutic
strategies for SSADH deficiency
H. Lee, Boston
11:30Gene therapy for AADC deficiency
T. Pearson, St. Louis
12.00Awards-Closing remarks – Invitation for 2022
Individual departure