Wissenschaftliches Programm 2023

	Vorsitz: C. Mühlhausen, Göttingen
17:45	Eröffnung C. Mühlhausen, Göttingen H4 Hotel
18:00	Evening Lecture Kommunikationsfallen: wie man sie vermeidet, umgeht, aufstellt und wieder herauskommt P. Burgard, Heidelberg
19:00	Get Together und gemeinsames Abendessen

08:30-17:00	APS Stoffwechselseminar Gesellschaftssaal
17:00-18:00	Junge Stoffwechselmedizin Gesellschaftssaal
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 Gesellschaftssaal
from 19:30	Get together with poster walk Festsaal

07:00-07:45	Early bird yoga (please bring your own yoga mat) Margarete Eckl - Iyoga, Munich H4 Hotel, Room Merz+Longo
08:30-08:40	Welcome The future is now: OMICS in daily (metabolic) life Saskia Wortmann & Johannes Mayr, Salzburg (AT)
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 Martin Poms, Zürich (CH) The power of exome sequencing for gene discovery in mitochondrial disease Holger Prokisch, Munich (GER) Variant interpretation - the use of OMICS for confirming or discarding VUSses from exome sequencing Davor Lessel, Salzburg (AT)
10:10-10:40	Coffee Break | Posters | Industrial Exhibition
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 Robert Taylor, Newcastle (UK) Multi-omics in art Stepanka Kuckova, Prague (CZE) Multi-omics in crime investigation NN
12:10-13:30	Break with Poster-Lunch
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? Jim Bonham, Sheffield (UK) Epigenetics in IMD: the example of Epi-cblC, an inherited disorder of intracellular B12 metabolism Jean-Louis Gueant, Nancy (FR)
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 Anke Schumann, Freiburg (GER) FC 01-02 Region-specific lipidomic profiling in brain and spinal cord tissue of X-linked adrenoleukodystrophy mice Lara Marten, Göttingen (GER) FC 01-03 mRNA-based approach induces the expression of functional PAH enzyme in vitro Daniel Frank, Mainz (GER) 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 Tammy Stellbrinck, Hannover (GER) 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 Alexander Lämmle, Bern (CH)
15:20-15:45	Coffee Break | Posters | Industrial Exhibition
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 Anibh Martin Das, Hannover (GER) FC 02-02 Mevalonate Kinase Deficiency significantly impairs Glycosylation Christian Thiel, Heidelberg (GER) FC 02-03 Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment Ulrike Mütze, Heidelberg (GER) FC 02-04 ACMSD deficiency, a new disorder of tryptophan catabolism responsive to protein restriction Clara Köller, Salzburg (AT) FC 02-05 Machine learning methods improve specificity in newborn screening for isovaleric aciduria Elaine Zaunseder, Heidelberg (GER) 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 Nastassja Himmelreich, Heidelberg (GER) FC 02-07 Value-based healthcare for glycogen storage disease type IB: Repurposing Empagliflozin Clara Köller, Salzburg (AT) FC 02-08 Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders Maren Thiel, Freiburg (GER)
10:00-10:30	Coffee Break | Posters | Industrial Exhibition
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 Melanie Achleitner, Salzburg (AT) Fluxomics for IMD - a new tool to study complex metabolic pathways Laura Steinbusch, Maastricht (NL) Untargeted metabolomics reveals novel biomarkers and pathomechanisms Ron Wevers, Nijmegen (NL) Bridging OMICS to (personalized) treatment in daily life Saskia Wortmann, Salzburg (AT) & Nijmegen (NL)
12:30	Prizes, Farewell, Invitation for APS 2024
12:40-13:30	Break with Poster-Lunch