^14th Symposium of the Portuguese Society for Metabolic Disorders

Converging paths in Inborn Errors of Metabolism

 Preliminary Scientific Programm

Thursday, March 15^th

Welcome Address on behalf of the SPDM
Local organization representatives

09:00 -10:30

Session I – New players in Inborn Errors of Metabolism

Metabolic adaptation as a protective strategy against infectious diseases
Miguel Soares | Lisboa, PT

09:30 - 10:00

Gut microbioma and hyperammoniemia – problem or solution?
David Shen | Philadelphia, USA

10:00 – 10:30

Epigenetic changes and phenotypic variation in IEM
Joseph H. Nadeau | Seattle, USA

10:30 - 11:00

Coffee Break

11:00 – 12:00

Session II – Inborn Errors of Metabolism cross talk with Immune system

11:00 – 11:30

Inborn errors of metabolism underlying primary immunodeficiency’s – an emerging field
Joris van Montfrans | Utrecht, ND

11:30 - 12:00

Impacts of free amino acids on the immune system
Thomas Vorup-Jensen | Aarhus, DK

12:00 -13:00

Session III – New Inborn Errors of Metabolism 

12:00 - 12:30

12:30 – 13:00

Odissey to a new disorder
Ron Wevers | Nijmegen, ND

13:00 – 14:00

Poster View / Lunch

14:00 – 15:00

Session IV – Congenital Disorders of Glycosylation

14:00 - 14:30

Lessons from NGS approach to CDG diagnostic
Gert Mathijs | Leuven, BE

14:30 – 15:00

Treating CDGs – always a challenge
Jaak Jaeken | Leuven, BE

15:00 - 15:30

Coffee Break

15:30 – 16:55

Session V – Selected free Communications

17:10

General Assembly /Assembleia Geral

19:30

Departure from the hotel

20:00

Symposium Dinner

22:30

Return to the Hotel

08:00 – 09:00

Session VI – Selected free Communications

09:10 – 10:25

Session VII – LSD - still much to learn

09:10 – 09:35

Immunity and Inflammation - in LSD
Brian Bigger | Manchester, UK

09:35 – 10:00

Bone growth in lysosomal storage disorders – role of autophagy and new paths for treatment
Carmine Settembre | Naples, IT

10:00 – 10:25

Bridging the age spectrum of neurodegenerative storage diseases
Barry Boland | Cork, IR

10:25 – 11:00

Coffee break

11:00 – 11:50

Session VIII – LSD treatment – reality and expectations?

11:00 – 11:25

Advances in gene therapy for LSD
Brian Bigger | Manchester, UK

11:25 – 11:50

Treatment with pentosane polysulphate in patients with MPS I
Calogera Simonaro | New York, USA

11:50 – 12:45 

Session IX – Selected free Communications

12:45  – 13:45

Poster View | Lunch

IV SPDM Nutrition meeting (SPDM-GN)

13:45 – 14:35

Session X –  Omics contribution for Inborn Errors of Metabolism

13:45 – 14:10

Next Generation Metabolic Screening using Qtof-MS
Ron Wevers | Nimegen, NL

14:10 – 14:35

Omics-Based Strategies in Precision Medicine for IEM
Soumeya Bekri | Rouen, FR

14:35 – 16:00

Session XI – Inborn errors of metabolism nutritional and pharmacological treatment – Present and future

14:35 – 15:00

Vitamin and Micronutrients Metabolism – role in IEM treatment
Ana Moráis López | Madrid, SP

15:00 – 15:20

Sapropterin treatment of PKU- the Portuguese picture
SPDM work group - To be confirmed | PT

15:20 – 15:45

Carbaglumic acid – lessons from treating organic acidurias
Sufin Yap | Sheffield, UK

15:45 – 16:00

Coffee Break

Session XII – Selected poster Communications

Awards / Closing Remarks
Isabel Tavares de Almeida, SPDM President

SPDM Electoral Assembly