Formation continue > Updates on diagnosis & management of inborn errors of metabolism 30.03.2023 13:15 - 17:15 4 Credits University of Bern Hallerstrasse 6 2nd Floor 3000 Bern Inscription et informations Programme University of Bern Hallerstrasse 6 2nd Floor 3000 Bern Inscription et informations & management of inborn errors of metabolism General Meeting of SGIEM, Thursday 30 th March 202 3 Morning Annual meeting of the SGIEM N ational Network (for Members only) Venue : University of Bern, Hallerstrasse 6, 2nd Floor, in Bern Agenda : see separate mailing to all members 09.15 General Meeting, Part 1 10:15 Coffee Break 10: 45 General Meeting , Part 2 11:45 Lunch in Foyer Sub group Meetings 12: 00 -13:00 Seminarraum 203 : 12: 00 -13 :00 SGBOND Hörraum 205 (Entrance B) : 12:00 -13:0 0 Adult Group Alpenrau m in WTI (GF) : 12:00 -13: 00 Dietician Group Hörraum 205 (Entrance A) : 12:00 -13 :00 Labs Foyer : 12:00 -13:00 PO General Meeting of SGIEM, Thursday 30 th March 2023 Afternoon Scientific Symposium (open to all interested; on registration only ) Venue : University of Bern, Hallerstrasse 6, 2nd Floor, in Bern 13:15 KEYNOTE LECTURE: Chair: Christel Tran Beyond the bones: The 2023 nosology of genetic skeletal disorders and its relationship to metabolism and genetics Prof. Dr. And rea Superti -Furga , Lausanne 14: 15 -15: 05 SESSION 1: Diagnostic and Clinical Practice – Chair: Marco Strasser 14: 15 Christian Urzì : Intra – and Extracellular Metabolic Investigation of Perfused Fibroblasts by Real -time NMR Allows for Better Discrimination of Mitochondrial Defects 14: 30 Aurel T. Tankeu : Biotinidase Deficienc y: What Have We Learned in 40 Years? 14:45 Christina Kaufman : Diagnostic de lay in patients with cerebral creatine deficiency disorders 15: 05 -15: 35 Break 15 :35-16:20 SESSION 2: SGBOND & Porphyrias – Chair: Aurel Tankeu 15 :35 Manuela Messikommer : Late diagnosis of childhood -onset hypophosphatasia in an adult with recurrent fractures: the impact of enzyme replacement therapy 15:50 Giulio Marcionelli : Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta 16:0 5 Jasmin Barman -Aksözen : Quality Adjusted Life Years in erythropoietic protoporphyria and other rare diseases. A patient -initiated EQ -5D feasibility study. 16: 20-17: 05 SESSION 3: Potential new treatments – Chair: Giulio Marcionelli 16:2 0 Alexander Laemmle : 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 16 :35 Gabriella Fernandes -Pires : Rescue of myocytes and locomotor activity through intracisternal AAV9 gene therapy in a rat model of creatine transporter deficiency 16 :50 Marco Strasser : Individual therapeutic trial for a severe sleep disorder in a patient with mitochondrial disease using a rocking bed 17 :05 Prize best presenta tion / Closing Remarks – followed by Apéro dînatoire Lieu de déroulement: Hallerstrasse 6, 3012 Bern