April 18, 2024
April 19, 2024
April 18, 2024
10:30 – 12:30 | ÖGKJ AG-Sitzung |
12:30 – 13:30 | Lunch |
13:30 – 15:30 | |
13:30 –14:00 | Metabolic kidney disease Anke Schumann, Freiburg (GER) |
14:00 – 14:30 | Differential diagnosis of kidney stones (incl. PH1) Lisa Daniel-Fischer, Vienna |
14:30 – 14:45 | Free communication |
14:45 – 15:00 | Free communication |
15:00 – 15:15 | Free communication |
15:15 – 15:30 | Free communication |
15:30 – 16:00 | Break |
16:00 – 18:00 | |
16:00 –16:30 | Cobalamin and vitamin B12 Sean Froese, Zurich (CH) |
16:30 – 17:00 | Disorders of purine and pyrimidine metabolism Sabine Scholl-Bürgi, Innsbruck |
17:00 – 17:30 | Long read sequencing in rare disease diagnosis NN/Institute of Human Genetics, Innsbruck |
17:30 –18:00 | Panel: How can we safeguard the metabolic lab expertise in the „genetics first“ era? Johannes Zschocke, Innsbruck Matthias Baumgartner, Zurich (CH) Johannes Mayr, Salzburg Barbara Plecko, Graz Jean Marc Nuoffer, Bern (CH) Moderation: Daniela Karall, Innsbruck |
19:00 – 22:00 | Evening networking Stiftskeller Innsbruck |
April 19, 2024
08:30 – 10:30 | News from lipid metabolism |
08:30 – 09:00 | News from membrane lipids Markus Keller, Innsbruck |
09:00 – 09:30 | Molybdenum cofactor deficiency Günter Schwarz, Köln |
09:30 – 09:45 | Free communication |
09:45 – 10:00 | Free communication |
10:00 – 10:15 | Free communication |
10:15 – 10:30 | Free communication |
10:30 – 11:00 | Break |
11:00 –13:00 | Digital Networks – Benefit or just more work? |
11:00 – 11:15 | Registries for Inherited Metabolic Disease in Austria Thomas Zöggeler, Innsbruck |
11:15 –11:30 | Swiss Rare Disease Registry Matthias Baumgartner, Zurich (CH) |
11:30 – 11:45 | Possibilities in networks, update mitoNET Johannes Mayr, Salzburg |
11:45 – 12:00 | OIMD Website/App Johannes Zschocke, Innsbruck |
12:00 –12:15 | JARDIN – Joint Action on Integration of ERNs into National Healthcare Systems NN |
12:15 – 12:30 | RUD programme – rare and undiagnosed disease Ursula Unterberger, Vienna |
12:30 – 12:45 | Discussion |
12:45 – 13:00 | Wrap up and fare well |
13:00 – 14:00 | Lunch |
Training Points
The Austrian Swiss Metabolic Meeting was accredited by the Austrian Medical Association with 10 DFP points (ID 798714).