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
Pedro Moreno, Portugal

09:20
09:40

Mechanisms of neuronal damage in acute hepatic porphyrias;
Miguel Oliveira, Portugal

 09:40
10:00

Sporadic and latent acute hepatic porphyria – an EPNET Centre Experience
TBC

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

ChairpersonsTBC
13:00
14:30
Lunch and Satellite Symposium II
14:30
15:00

Session VIII
Unmet needs in inherited metabolic diseases

Chairperons: Paulo Gonçalves (RD-Portugal); Fátima Ventura (Infarmed); TBC

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
17:40

Session X
Spotlight I
17:40 Awards and Final Remarks
18:00
End of the Symposium

 Download