19th International SPDM Symposium
29th – 31st March 2023
Hybrid Symposium
“The next steps in Inborn Errors of Metabolism:
from newborn screening to palliative care"
Scientific Programme
| Wednesday, 29th March | |
| 17:00 17:45 |
SPDM Nutrition Group Meeting |
| 17:45 19:00 |
SPDM Groups Meeting |
| 19:00 |
Welcome drink |
| Thursday, 30th March | |
| 08:30 |
Registration Opening |
| 09:00 |
Symposium Opening - Welcome Address on behalf of the SPDM |
| 09:10 10:30 |
Session I Inherited metabolic diseases in the lifetime Chairpersons: TBC |
| 09:10 09:30 |
Dietary management during the lifetime for IMD Júlio Cesar Rocha, Portugal |
| 09:30 09:50 |
Reproductive health and other challenges in adults with an IMD Elaine Murphy, United Kingdom |
| 09:50 10:10 |
Neurometabolic disorders in adults: IMD and beyond Fanny Mochel, France |
| 10:10 10:30 |
Palliative care for IMD patients Cândida Cancelinha, Portugal |
| 10:30 10:50 |
Discussion |
| 10:50 11:20 |
Coffee Break and Poster view |
| 11:20 12:40 |
Session II Familial dyslipidaemias Chairpersons: TBC |
| 11:20 11:40 |
Defects of lipoprotein metabolism: from the genes to the clinic Adriaan Holleboom, Netherlands |
| 11:40 12:00 |
Familial hypercholesterolaemia in children and adolescents - better safe than sorry Albert Wiegman, Netherlands |
| 12:00 12:20 |
The Portuguese screening programs for familial dyslipidaemias Mafalda Bourbon, Portugal |
| 12:20 12:40 |
Discussion |
| 12:40 14:30 |
Lunch and Satellite Symposium |
| 14:30 16:00 |
Session III Are we moving forward in lysosomal storage disorders? Chairpersons: TBC |
| 14:30 14:50 |
The future of enzyme replacement therapy TBC |
| 14:50 15:10 |
The path to gene therapy in lysosomal storage disorders Francesca Tucci, Italy |
| 15:10 15:30 |
Registries in inherited metabolic diseases: how to move forward? Nadia Belmatoug, France |
| 15:30 16:00 |
Discussion |
| 16:00 16:30 |
Coffee Break and Poster view |
| 16:30 17:30 |
Session IV Oral Communications I Chairpersons: TBC |
| 17:30 | SPDM Generaly Assembly |
| 19:00 |
Departure to the Symposium Dinner |
| Friday, 31st March | |
| 09:00 10:30 |
Session V New approaches in porphyrias Chairpersons: TBC |
| 09:00 09:20 |
RNAi and the revolution in therapeutical approaches to inherited metabolic diseases: acute hepatic porphyria at the target |
| 09:20 09:40 |
Mechanisms of neuronal damage in acute hepatic porphyrias; |
|
09:40 |
Sporadic and latent acute hepatic porphyria – an EPNET Centre Experience |
| 10:00 10:30 |
Discussion |
| 10:30 11:00 |
Coffe Break and Poster View |
| 11:00 12:20 |
Session VI Thinking big and bold in inherited metabolic diseases Chairpersons: TBC |
| 11:00 11:20 |
Big data and artificial intelligence in metabolic medicine Mário Silva, Portugal |
| 11:20 11:40 |
Newborn screening by WGS: opportunities and challenges David Bick, United Kingdom |
| 11:40 12:00 |
Aging in IMD: uncovering new phenotypes Charles Lourenço, Brazil |
| 12:00 12:20 |
Discussion |
| 12:20 13:00 |
Session VII Oral Communications II Chairpersons: TBC |
| 13:00 14:30 |
Lunch and Satellite Symposium II |
| 14:30 15:00 |
Session VIII |
| 14:30 14:50 |
Unmet needs for the patient and the family José Vilhena, Portugal |
| 14:50 15:10 |
The pharmacist and the specificities of IMD Sara Dias, Portugal |
| 15:10 15:30 |
Reference Centres of IMD in Portugal - challenges and opportunities Luísa Diogo, Portugal |
| 15:30 15:50 |
Discussion |
| 15:50 16:30 |
Session IX Spotlight I |
| 16:30 17:00 |
Coffee Break and Poster View |
|
17:00 |
Session X Spotlight I |
| 17:40 | Awards and Final Remarks |
| 18:00 |
End of the Symposium |
