| 17:45 | Opening |
| 18:00 | Evening Lecture Kommunikationsfallen: wie man sie vermeidet, umgeht, aufstellt und wieder herauskommt |
| 08:30-17:00 | APS Metabolic Seminar |
| 17:00-18:00 | Junge Stoffwechselmedizin |
| 18:00-19:30 | Satellite Symposium Ein seltenes Krankheitsbild: viele verschiedene Gesichter – wie differenzieren? • Mitraten ist gefragt: welche Krankheit versteckt sich hinter den Symptomen (interaktive Fallvorstellungen)? • Herausforderungen der Diagnostik und Differentialdiagnosen • Komplexität der Krankheitsbilder- Patientenvorstellung in der Neuropädiatrie oder in der Stoffwechselambulanz? Es diskutieren mit Ihnen: Annette Richter-Unruh (Bochum) Clemens Kamrath (Gießen) Martin Wabitsch (Ulm) with the friendly support of  |
| from 19:30 | Get together with poster walk |
| 07:00-07:45 | Early bird yoga (please bring your own yoga mat) H4 Hotel, Room Merz+Longo |
| 08:30-08:40 | Welcome The future is now: OMICS in daily (metabolic) life |
| 08:40-10:10 | An introduction to OMICS in inborn metabolic diseases Chair: Daniela Karall, Innsbruck (AT), Ulrike Mütze, Heidelberg (GER) All you need to know about OMICS: an introduction to terms and techniques The power of exome sequencing for gene discovery in mitochondrial disease Variant interpretation - the use of OMICS for confirming or discarding VUSses from exome sequencing |
| 10:40-12:10 | OMICS: from IMDs to daily life Chair: Skadi Beblo, Leipzig (GER), Nastassja Himmelreich, Heidelberg (GER) How to proceed after negative exome: Multi-omics in diagnostics of mitochondrial disease - the value of muscle and skin biopsy Multi-omics in art Multi-omics in crime investigation |
| 12:10-13:30 | |
| 13:30-14:30 | New avenues to solve old problems? Chair: Ralf Husain, Jena (GER), Corinna Weigel, Erlangen (GER) The future of newborn screening: genomics or metabolomics? Epigenetics in IMD: the example of Epi-cblC, an inherited disorder of intracellular B12 metabolism |
| 14:30 - 15:20 | Free communications I Chair: Ulrike Steuerwald, Hannover (GER), Natalie Weinhold, Berlin (GER) FC 01-01 Renal phenotype in a hypomorphic murine model of propionic aciduria FC 01-02 Region-specific lipidomic profiling in brain and spinal cord tissue of X-linked adrenoleukodystrophy mice FC 01-03 mRNA-based approach induces the expression of functional PAH enzyme in vitro FC 01-04 Pathogenic non-functional mutants of intestinal lactase-phlorizin hydrolase form hetero-complexes with the active wild type enzyme and negatively impact its function and intracellular trafficking FC 01-05 Using induced pluripotent stem cell (iPSC) technology to understand the ultra-rare metabolic disease malate dehydrogenase 2 (MDH2) deficiency (MDH2D) and its potential treatment with triheptanoin |
| 15:45-17:00 | APS Quo Vadis? |
| 17:00-18:30 | APS members‘ meeting |
| 18:30-19:30 | APS Networking Haupthalle Kongress Palais |
| from 20:00 | APS Dinner AUSGEBUCHT: Einlass nur nach erfolgter separater Anmeldung, die Anreise erfolgt individuell Ort: Renthof Kassel, Renthof 3, 34117 Kassel www.renthof-kassel.de Anfahrt |
| 08:30-10:00 | Free communications II Chair: Marianne Rohrbach, Zürich (CH) & Steffi Dreha-Kulaczewski, Göttingen (GER) FC 02-01 Repurposing Bempedoic acid as a therapeutic option in GSD Type 1: From biochemical principles to first clinical data FC 02-02 Mevalonate Kinase Deficiency significantly impairs Glycosylation FC 02-03 Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment FC 02-04 ACMSD deficiency, a new disorder of tryptophan catabolism responsive to protein restriction FC 02-05 Machine learning methods improve specificity in newborn screening for isovaleric aciduria FC 02-06 Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches & FC 02-09 Biotin improved psychomotor abilities in individuals with Congenital Disorders of Glycosylation – a pilot study FC 02-07 Value-based healthcare for glycogen storage disease type IB: Repurposing Empagliflozin FC 02-08 Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders |
| 10:30-12:30 | New techniques for new insights and future treatments Chair: Eva Thimm, Düsseldorf (GER), Sabine Illsinger, Hannover (GER) tRNA Sequencing - a new technique and metabolic signature Fluxomics for IMD - a new tool to study complex metabolic pathways Untargeted metabolomics reveals novel biomarkers and pathomechanisms Bridging OMICS to (personalized) treatment in daily life |
| 12:30 | Prizes, Farewell, Invitation for APS 2024 |
| 12:40-13:30 |
Universitätsmedizin Göttingen, Georg-August-Universität
Klinik für Kinder- und Jugendmedizin
Robert-Koch-Str. 40
37075 Göttingen
DEUTSCHLAND
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+43-(0)512-890438
aps@studio12.co.at
