15th Symposium of the Portuguese Society for Metabolic Disorders

Old diseases, new treatments

 Preliminary Scientific Programm

Thursday, March 14th

Hotel Vila Galé, Coimbra

08:00

Registration Opening

08:45

Welcome Address on behalf of the SPDM
Local organization representatives

09:00 -10:10

Session I – The moving targets of expanded newborn screening for inborn errors of metabolism
ChairpersonsHelena Santos, V.N. Gaia, PT / Laura Vilarinho, Porto,PT

 09:00 - 09:20

The experience in the United Kingdom
Rachel Carling | London, UK

09:20 - 09:40

Newborn Screening of Lysosomal Storage Disorders
Alberto Burlina | Padova, IT

09:40 – 10:00

Expanded newborn screening in Portugal
Ana Marcão | Porto, PT

10:00 – 10:15

Discussion

10:15 - 10:30

Coffee Break

10:30 – 11:45

Session II – Politics and economics in the treatment of inborn errors of metabolism
Chairpersons: José Manuel Silva, Coimbra, PT / António Freire Gonçalves, Coimbra, PT

10:30 – 10:50

Economic perspective
Nadim Habib | Lisboa, PT

10:50 - 11:10

Regulatory perspective
Carlos Fontes Ribeiro | Coimbra, PT

11:10 - 11:30

Clinical perspective
Teresa Cardoso | Porto, PT

11:30 - 11:45

Discussion

11:45 -13:15

Session III – Inborn errors of metabolism I: an update 
Chairpersons: Sílvia Sequeira, Lisboa, PT / Isabel Rivera, Lisboa, PT

11:45 - 12:05

Gaucher disease: the therapeutic goals that are achievable
Deborah Elstein | Jerusalem, IL

12:05 – 12:25

Neuronal Ceroid Lipofuscinoses: assessment and treatment
Paul Gissen | London, UK

 12:25 - 12:45

Expanding treatment options for Methylmalonic aciduria
Stephanie Grünewald | London, UK

12:45 - 13:05

CYP46A1 as a new therapeutic target in Niemann-Pick type C disease (2018 SPDM research grant winner)
Elsa Rodrigues | Lisboa, PT

13:05 - 13:30

Discussion

13:30 – 14:45

Poster View / Lunch

14:45 – 16:00

Session IV – Metabolic pathways and subcellular organelles: new connections
ChairpersonsCatarina R. Oliveira, Coimbra, PT  / Isabel Santana, Coimbra, PT

14:45 - 15:05

Endoplasmic reticulum stress: new insights in Inborn Errors of Metabolism
Cláudia Pereira | Coimbra, PT

15:05 – 15:25

Hypothalamic dysfunction and neurodegeneration
Cláudia Cavadas| Coimbra, PT

15:25 - 15:45

Intercellular communication in Inborn Errors of Metabolism
Henrique Girão | Coimbra, PT

15:45 - 16:00

Discussion

16:00 - 16:30

Coffee Break

16:30 – 18:00

Session V – Selected Free Communications
Chairpersons: Esmeralda Rodrigues, Porto, PT / Patrícia Janeiro, Lisboa, PT

18:10

First SPDM National Treatment Protocol Group meeting

18:10

Fifth SPDM Nutrition meeting (SPDM-GN)
Chairpersons: Manuela Ferreira de Almeida, Porto, PT

19:30

Departure from the hotel

20:00

Symposium Dinner

22:30

Return to the Hotel

 Friday, March 15th

08:00 – 09:00

Session VI – Selected free Communications
Chairpersons: Anabela Oliveira, Lisboa, PTHugo César Rocha, Porto, PT 

09:00 – 10:15

Session VII – Nutritional paradigms in Inborn Errors of Metabolism
Chairpersons: Ana Faria, Coimbra, PT / Júlio Rocha, Porto, PT

09:00  09:20

Micronutrients: speculations in Inborn Errors of Metabolism
Peter Clayton | London, UK

09:20  09:40

Nutritional intervention after hepatic transplant in Inborn Errors of Protein Metabolism
Anne Daly | Birmingham, UK

09:40 – 10:00

The effect of the nitrogen source on metabolism in Phenylketonuria (2018 SPDM/Orphan Europe research grant winner)
Maria João Pena | Porto, PT

10:00 - 10:15

Discussion

10:20 – 10:40

Coffee break

10:40 - 11:45

Session VIII – Mitochondrial diseases: from clinics to basic research and back
Chairpersons: Célia Nogueira, Porto PT / Sandra Jacinto, Lisboa, PT

10:40 – 11:00

The challenges in the clinical evaluation of mitochondrial diseases
Shamima Rahman | London, UK

11:00 – 11:20

Current role of functional mitochondrial study in the genomic era
Manuela Grazina | Coimbra, PT

11:20 – 11:40

What is new in the treatment of mitochondrial disorders?
Mirian Janssen | Nijmegen, NL

11:40 - 12:00

Discussion

12:00 – 13:15

Session IX – Selected free Communications
Chairpersons: Ana Cristina Ferreira, Lisboa, PT/ Hélder Esperto, Porto, PT

13:15  – 14:15

Poster View | Lunch

14:15 – 15:10

Session X – Inborn Errors of Metabolism II: an update
ChairpersonsDulce Quelhas, Porto, PT  / Anabela Bandeira, Porto, PT

14:15 – 14:35

Biochemical markers and neuropsychology functioning in Urea Cycle Disorders
Amaya Bélanger-Quintana | Madrid, ES

14:35 – 14:55

Riboflavin-Responsive Disorders
Manuel Schiff | Paris, FR

14:55 - 15:10

Discussion

15:10 – 16:00

Session XI – Treating Inborn Errors of Metabolism: future directions
ChairpersonsElisa Leão Teles, Porto, PT / Isabel Tavares de Almeida, Lisboa, PT

15:10 – 15:30

The development of new enzyme replacement therapies: the example of Hypophosphatasia
Sérgio Sousa | Coimbra, PT

15:30 – 15:50

The possibilities of gene therapy for Inborn Errors of Metabolism
Paul Gissen | London, UK

15:50 - 16:10

Oral treatment for Fabry Disease: the evolution in chaperone therapies
Patrício Aguiar | Lisboa, PT

16:10 - 16:30

Discussion

16:30 – 16:50

Coffee Break

 16:50 – 17:50

Session XII – Selected poster Communications
Chairpersons: Paula Leandro, Lisboa, PT / João Durães, Coimbra, PT

 18:00

Awards / Closing Remarks
Maria Teresa Cardoso, SPDM President

18:30 

SPDM General Assembly

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