Preliminary Programme of the 36th APS Annual Conference

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

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

07:00-07:45Early bird yoga (please bring your own yoga mat)
Margarete Eckl - Iyoga, Munich
H4 Hotel, Room Merz+Longo
The future is now: OMICS in daily (metabolic) life
Saskia Wortmann & Johannes Mayr, Salzburg (AT)
08:40-10:10An 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)
10:10-10:40Coffee Break | Posters | Industrial Exhibition
10:40-12:10OMICS: 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
12:10-13:30Break with Poster-Lunch
13:30-14:30New 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 - 15:20Free 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)
15:20-15:45Coffee Break | Posters | Industrial Exhibition
15:45-17:00APS Quo Vadis?
17:00-18:30APS members‘ meeting
18:30-19:30APS Networking
Haupthalle Kongress Palais
from 20:00APS Dinner
AUSGEBUCHT: Einlass nur nach erfolgter separater Anmeldung, die Anreise erfolgt individuell
Ort: Renthof Kassel, Renthof 3, 34117 Kassel

08:30-10:00Free 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
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)
10:00-10:30Coffee Break | Posters | Industrial Exhibition
10:30-12:30New 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)
12:30Prizes, Farewell, Invitation for APS 2024
12:40-13:30Break with Poster-Lunch