Friday, 5st April |
09:45 |
Welcome |
10:00 11:15 |
Session I - Lessons from NBS
|
10:00 |
- 45 years of Newborn Screening: lessons learned
– Laura Vilarinho, Porto, PT
|
10:20 |
- Clinical follow-up of mild diseases – paediatric experience
– Teresa Campos, Porto, PT
|
10:40 |
- Clinical follow-up of mild diseases – adult overview
– Arlindo Guimas, Porto, PT
|
11:00 |
|
11:15 11:45 |
Coffee Break and Poster View
|
11:45 13:00 |
Session II – Current and future of IEM diagnosis
|
11:45 |
- NGS - implications for clinical diagnosis
– Fabiana Ramos, Coimbra, PT
|
12:05 |
- New biochemical markers
– Rafael Artuch, Barcelona, SP
|
12:25 |
- Classification of variants in the clinical laboratory: Challenges and solutions
– Belén Pérez, Madrid, SP
|
12:45 |
|
13:00
15:00
|
Lunch and Poster View |
15:00 16:16 |
Session III – New approaches to IEM treatment
|
15:00 |
- Breastfeeding in IEM
– Júlio Cesar Rocha, Lisboa, PT
|
15:20 |
- Modulating microbiome to treat IEM – TBC
|
15:40 |
- New options for treatment in CDG
– Mercedes Serrano, Barcelona, SP
|
16:00 |
|
16:15 16:45 |
Coffee Break and Poster View
|
16:45 18:15
|
Session IV - Overview of SPDM Projects
|
16:45 |
- Improve management of MADD patients – insights and achievements
– Bárbara Henriques, Lisboa, PT
|
17:00 |
- Melhoramento das novas tabelas de composição do teor e dos aminoácidos a utilizar como ferramenta para o tratamento das doenças hereditárias do metabolismo proteico
– Carla Vasconcelos, Porto, PT
|
17:15 |
- A patient reported experience measure (PREM) for quality improvement of pediatric inherited metabolic disorders care
– Teresa Campos, Porto, PT
|
17:30 |
- Rare diseases reference centers network knowledge management
– Sandra Mexia, Lisboa, PT
|
17:45 |
- Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection
– Patrícia Lipari Pinto, Lisboa, PT
|
18:00 |
|
18:15 |
Awards and Final Remarks |
18:45 |
End of the Symposium |