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?
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17:00-18:30 | APS members‘ meeting
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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 |