16th International SPDM Symposium
11th – 13th November 2020
Virtual Meeting

“New horizons in Inborn Errors of Metabolism”
Scientific Programme

 

Wednesday, 11th November
15:00
16:30
Session I - Selected Free Communications
Chairpersons: Ana M. Gaspar, Lisboa, PT | Hugo Rocha, Porto, PT
16:30
17:30
Session II – Selected e-Posters Communications
Chairpersons: Teresa Campos, Porto, PT | Margarida Silva, Lisboa, PT
17:30
19:00
Session III - Selected free communications
Chairpersons: Paula Garcia, Coimbra, PT | Anabela Bandeira, Porto, PT

 

Thursday, 12th November
08:15
08:30
Symposium Opening - Welcome Address on behalf of the SPDM
Daniel C. Gomes – Symposium Chairperson

Session IV – Crosstalk amongst intracellular organelles
Chairpersons: Isabel Tavares de Almeida, Lisboa, PT | Hugo Rocha, Porto, PT
08:30
08:50
Fatty acid metabolism: intracellular interactions
Ronald J. A. Wanders | Amsterdam, NL
08:55
09:15
New perspectives in fatty acid disorders
Ute Spiekerkoetter | Freiburg, DE
09:20
09:40
Disorders of complex lipid metabolism
Frédéric M. Vaz | Amsterdam, NL
09:45
10:05
A clinical approach to complex lipid disorders
Jean-Marie Saudubray | Paris, FR
10:10
10:20
Session IV discussion
10:20
10:50
Networking break

Session V – New insights in carbohydrate disorders
Chairpersons: Elisa Leão Teles, Porto, PT | Patrícia Janeiro, Lisboa
10:50
11:10
Glycogen storage disorders revisited
René Santer | Hamburg, DE
11:15
11:35
Update in disorders of galactose metabolism
Estela Rubio-Gozalbo | Maastricht, NL
11:40
11:50
Session V discussion
11:50
12:50
Networking break

Session VI – New treatment perspectives
Chairpersons: Domingo González-Lamuño, Santander, ES | Ana Paula Leandro, Lisboa , PT
12:50
13:10
Enzyme substitution therapy: Pegvaliase for the treatment of PKU
Ania Muntau | Hamburg, DE
13:15
13:35
Expanding the use of substrate reduction therapy: nitisinone for the treatment of alkaptonuria
Lakshminarayan Ranganath | Liverpool, UK
13:40
14:00
Future directions in the treatment of lysosomal disorders
Ans van der Ploeg | Rotterdam, NL
14:05
14:15
Session VI discussion
15:00
16:00
SPDM Nutrition Group meeting

 

Friday, 13th November

Session VII – Expanding the concept of neurometabolic disorders 
Chairpersons: Sofia Duarte, Lisboa, PT | João Durães, Coimbra, PT
08:30
08:50
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology
Angeles García-Cazorla | Barcelona, ES
08:55
09:15
Neonatal Seizures: Are we there yet?
Barbara Plecko | Graz, AT
09:20
09:35
GOT2 deficiency: a novel malate-aspartate shuttle disease that leads to early-infantile encephalopathy (invited short communication)
Rúben Ramos | New York, USA
09:35
09:50
Mitochondrial bioenergetics in neurodegeneration (invited short communication)
Vanessa Morais | Lisboa, PT
09:50
10:00
Session VII discussion
10:00
10:30
Networking break

Session VIII – Expanding treatment targets – what’s for the future of genetic therapy?
Chairpersons: Dulce Quelhas, Porto, PT | Isabel Rivera, Lisbon, PT
10:30
10:50
Recent advances in gene transfer therapy to the CNS in lysosomal storage diseases
Nicolina Cristina Sorrentino | Naples, IT
10:55
11:15
Emerging therapies in the hereditary porphyrias
Jean-Charles Deybach | Paris, FR
11:20
11:40
Emerging therapies for mitochondrial disease
Shamima Rahman | London, UK
11:45
12:00
Genetic substrate reduction therapy for mucopolysaccharidosis; Toward a sIRNA-containing nanoparticle targeted to brain cells (SPDM Aguinaldo Cabral Grant)
Francisca Coutinho | Porto, PT
12:00
12:10
Session VIII discussion
12:10
13:10
Networking break

Session IX - Ageing in Inherited Metabolic Disorders
Chairpersons: Anabela Oliveira, Lisboa, PT | Álvaro Hermida, Santiago de Compostela, ES
13:10
13:30
Age related metabolic changes in Inherited Metabolic Disorders
Fanny Mochel | Paris, FR
13:35
13:55
Inborn metabolism defects in common neurodegenerative disorders
Leonor Guedes | Lisboa, PT
14:00
14:20
Ethical issues in the treatment of elderly patients
Patrício Aguiar | Lisboa, PT
14:25
14:35
Session IX discussion
14:35
15:00
Awards / Closing Remarks
M. Teresa Cardoso – Former SPDM President

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