21st International SPDM Symposium
26th – 28th March 2020
“Raising awareness on Inherited Metabolic Disorders”
Preliminary Scientific Programme
Wednesday, 26th March
| 17:00 |
SPDM Working Groups Meeting |
| 18:00 |
SPDM Nutrition Group Meeting |
Thursday, 27th March
| 09:00 |
Symposium Opening - Welcome Address on behalf of the SPDM Symposium Chairperson - Daniel Costa Gomes |
| 09:15 |
Session I – Innovation in diagnostic methods for classic IMD |
| 09:15 |
Metabolomics to screen for classic IMD George Ruijter, Rotterdam, NL |
| 09:40 |
TBC |
| 10:05 |
Quantitative Proteomics in Mitochondrial Disease - where are we now? Marco Moedas, Stockholm, SE |
| 10:30 |
Lipidomics and the detection of neurodegeneration Frédéric Vaz, Amsterdam, NL |
| 10:55 |
Coffee Break |
| 11:30 |
Session II – Rethinking Newborn Screening (NBS) |
| 11:30 |
New Challenges in NBS Hugo Rocha, Porto, PT |
| 11:55 |
Challenges of using whole genome sequencing in population newborn screening Robin Lachmann, London, UK |
| 12:20 |
Lessons from adult metabolic medicine Fanny Mochel, Paris, FR |
| 12:45 |
Lunch |
| 14:15 |
Session III – Raising awareness on Neurometabolic Diseases |
| 14:15 |
Metabolic epilepsies - clinical and biochemical footprints of IMD Angeles Garcia Cazorla, Barcelona, ES |
| 14:40 |
Update on leukodystrophies and developing trials Giorgia Ceravolo, London, UK |
| 15:05 |
Movement disorder increases with age in argininosuccinic aciduria Julien Baruteau, London, UK |
| 15:30 |
Coffee Break |
| 16:00 |
Session IV – Oral Communications |
| 17:00 |
Session V – E-posters guided walk |
| 19:30 |
Departure to Dinner |
Friday, 28th March
| 09:00 |
Session VI – Development and challenges for new therapies in IMD |
| 09:00 |
The basis for mRNA-based therapies in IMD Fátima Ventura, Lisbon, PT |
| 09:25 |
mRNA therapy for lysosomal disorders Sandra Alves, Porto, PT |
| 09:50 |
Mitochondrial disorders - hope for the future? Shamima Rahman, London, UK |
| 10:15 |
New treatment approaches for CDG Dulce Quelhas, Porto, PT |
| 10:40 |
Coffee Break |
| 11:15 |
Session VII – Revisiting nutritional approaches in IMD |
| 11:15 |
Exploring asymptomatic childhood methionine cycle disorders Patrícia Lipari Pinto, Lisbon, PT |
| 11:40 |
TBC |
| 12:05 |
Personalised parenteral nutrition for acute IMD decompensations |
| 12:30 |
Lunch |
| 14:00 |
Session VIII – Selected E-posters Communications |
| 15:00 |
Session IX – Moving from research to clinical practice in IMD |
| 15:00 |
Patient registries and data in IMD Cátia Pinto, Lisbon, PT |
| 15:25 |
TBC |
| 15:50 |
Sustainability in the development of the treatments for IMD Rui Santos Ivo, Lisbon, PT |
| 16:15 |
Coffee Break |
| 16:45 |
Session X – SPDM grants communications |
| 16:45 |
Can enzyme replacement therapy revert iNKT cell dysfunction in acid sphingomyelinase deficiency patients? |
| 17:05 |
Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase Ana Paula Leandro, Lisbon, PT |
| 17:30 |
Awards / Closing Remarks |
| 17:45 |
End of the Symposium |
