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 | Chair: Ilse Kern, Genf (CH) and Johannes Zschocke, Innsbruck |
| 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 | FC1: Development of amino acids in plasma after heart transplantation in two patients with propionic acidemia Julian Margreitter, Innsbruck |
| 14:45 – 15:00 | FC2: Listen to your patient’s gallbladder to catch the hidden inborn error of metabolism (IEM) Ilse Kern, Genf (CH) |
| 15:00 – 15:15 | FC3: Intraindividual long-term observation of diurnal capillary glucose and ketone concentrations in a patient with Glucose Transporter 1 Deficiency Syndrome Sarah Wastian, Innsbruck |
| 15:15 – 15:30 | FC4: Lisch epithelial corneal dystrophy Carmen Strasser, Innsbruck |
| 15:30 – 16:00 | Break |
| 16:00 – 18:00 | Chair: Johannes Häberle, Zurich (CH) and Daniela Karall, Innsbruck |
| 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 Katharina Herzog and Johannes Zschocke, 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 Chair: Barbara Plecko, Graz and Jean Marc Nuoffer, Bern (CH) |
| 08:30 – 09:00 | News from membrane lipids Markus Keller, Innsbruck |
| 09:00 – 09:30 | Molybdenum cofactor deficiency Günter Schwarz, Köln (GER) |
| 09:30 – 09:45 | FC5: Targeting mitochondrial defects in a 3D-bioprinted LCHADD/VLCADD model Judith Hagenbuchner, Innsbruck |
| 09:45 – 10:00 | FC6: The damaging potential of VLCAD and LCHAD deficiency for complex lipids and biological membranes Victorija Juric, Innsbruck |
| 10:00 – 10:15 | FC7: Establishment of direct long read sequencing of mitochondrial DNA Melanie Achleitner, Salzburg |
| 10:15 – 10:30 | FC8: Long-read genome sequencing to delineate a pathogenic SLC25A13 mutation Rebekka Entstrasser, Innsbruck |
| 10:30 – 11:00 | Break |
| 11:00 –13:00 | Digital Networks – Benefit or just more work? Chair: Matthias Baumgartner, Zurich (CH) and Dorothea Möslinger, Vienna |
| 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 – 12:05 | JARDIN – Joint Action on Integration of ERNs into National Healthcare Systems Till Voigtländer, Vienna |
| 12:05 – 12:25 | RUD programme – rare and undiagnosed disease Ursula Unterberger, Vienna |
| 12:25 –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).