| APS Seminar | |
| Satellite Symposium | |
Wine, finger food and poster viewing |
| 08:30-08:40 | Welcome and conference outline |
| 08:40-10:00 | What makes the human brain a special organ? Chair: NN Cellular and molecular mechanisms of the blood brain barrier Inborn errors of metabolism, neurotoxicity and age-dependent brain vulnerability Primary and secondary pathomechanisms of neuronal damage in lysosomal storage disorders |
| 10:30-12:30 | Odysseus´ changed decisions – quicker ways to diagnose IEM Chair: NN Efficacy of Newborn Screening Programms in the prevention of disease manifestation of neurometabolic disorders Neurometabolic Disorders – a signs and symptoms approach Do we still need biomarkers in the diagnostic work-up of children with unclear neurologic disease? Dominant or recessive? Functional variant interpretation in genetic diagnostics |
| 13:30-14:30 | Update on Leukodystrophies Chair: NN Metabolic and inflammatory aspects in Leukodystrophies The change in the diagnostic and therapeutic paradigm with a focus on X-ALD and MLD |
| 14:30-15:20 | Free communications I Chair: NN |
| 15:45-17:00 | Session of the Young APS |
| 17:00-18:30 | APS general assembly |
Haupthalle Kongress Palais |
| 08:30-10:00 | Free Communications II |
| 10:30-12:30 | Therapeutic Innovation Pipeline in Neurometabolic Disorders Drug repurposing in mitochondrial disorders – and beyond BBB and enzyme replacement therapies – Devices versus Cargo The hurdles for studying ultraorphan disease and the challenge of N of 1 trials Genetic therapies for neurometabolic disorders |
| 12:30-12:40 | Prizes and Farewell |
c/o Geschäftsstelle der Deutschen Gesellschaft für Kinder- und Jugendmedizin e.v. (DGKJ)
Chausseestr. 128/129
10115 Belin
S12! studio12 gmbh
Kaiser-Josef-Straße 9
6020 Innsbruck, AUSTRIA
+43-(0)512-890438
aps@studio12.co.at
