17th International SPDM Symposium
8th – 10th September 2021
Hybrid Symposium
“Linking metabolic signature to IEM treatment”
Preliminary Scientific Programme
| Wednesday, 8th September | |
| 17:45 18:30 |
SPDM Nutrition meeting |
| 19:00 19:45 |
Welcome drink |
| Thursday, 9th September | |
| 08:30 |
Registration Opening |
| 09:15 |
Symposium Opening |
| 09:30 10:30 |
Session I IEM's mapping |
| 09:30 10:00 |
MetabERN - where are we now? Maurizio Scarpa |
| 10:00 10:30 |
Revisiting IEM's classification Carlos Ferreira |
| 10:30 11:00 |
Coffee Break |
| 11:00 10:20 |
Session II Newborn Screening for IEM |
| 11:00 11:30 |
Newborn Screening in Europe and initiatives tp develop programmes in low - and middle-income countries. Jim Bonham |
| 11:30 12:00 |
New tests and future directions in the NBS for IEM. Giancarlo LaMarca |
| 12:00 12:30 |
Treatment follow-up of screened disorders. Paula Garcia |
| 12:30 13:00 |
Oral Communications to the table |
| 13:00 14:00 |
Lunch | poster view |
| 14:00 15:30 |
Session III From CbL to Hcy |
| 14:00 14:30 |
Remethylation disorders: from cobalamin absorption, intracellular pathways to MTHFR deficiency. Matthias Baumgartner |
| 14:30 15:00 |
Inherited disorders of transsulfuration: clinical presentation, diagnosis and recent advances in therapy. Viktor Kozich |
| 15:00 15:30 |
The transsulfuration pathway at the crossroads between homocysteine and hydrogen sulfide metabolism: (dys)regulation and (patho)physiological implications. João Vicente |
| 15:30 16:00 |
Oral Communications to the table |
| 16:00 16:30 |
Coffee Break |
| 16:30 17:30 |
Session IV IEM Nutritional and Pharmacological treatment |
| 16:30 17:00 |
Current and future approaches in PKU treatment. Cary Harding |
| 17:00 17:30 |
Micronutrients – Role in IEM treatment. Júlio Cesar Rocha |
| 17:30 18:00 |
Session V General Oral Communications |
| 20:30 21:45 |
Symposium Dinner |
| Friday, 10th September | |
| 09:00 10:30 |
Session VI The acetyl-CoA cross |
| 09:00 09:30 |
Pyruvate dehydrogenase complex deficiency in Portugal: the clinical, metabolic and mutational landscapes and its peculiar characteristics. Hana Pavlu-Pereira |
| 09:30 10:00 |
Ketotic glycogen storage diseases (GSD): current knowledge, management and monitoring. Ulrike Steuerwald |
| 10:00 10:30 |
How to find your way through metabolic disorder in patients with rhabdomyolysis. Pascal Laforêt |
| 10:30 11:00 |
Coffe Break |
| 11:00 12:30 |
Session VII Lysosomal Disorders |
| 11:00 11:30 |
A new face in the diagnosis and monitoring of lysosomal disorders. Johannes Aerts |
| 11:30 12:00 |
Gene therapy for lysosomal storage disorders: advances, challenges and perspectives. Maria José Castro |
| 12:00 12:30 |
Immunomodulation and ERTs. Simon Jones |
| 12:30 13:00 |
Oral Communications to the table |
| 13:00 14:00 |
Lunch | Poster view |
| 14:00 15:30 |
Session VIII The ammonia roundabout |
| 14:00 14:30 |
New insights into the pathophysiology and molecular basis of UCD's. Johannes Haberle |
| 14:30 15:00 |
Potential role of gene therapy for OTC deficiency. Alvaro Hermida |
| 15:00 15:30 |
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. Marshall Summar |
| 15:30 16:00 |
Coffe Break |
| 16:00 17:30 |
Session IX Down Town Mitochondria |
| 16:00 16:30 |
Mitochondrial plasticity - role in muscle pathology. Rita Ferreira |
| 16:30 17:00 |
Renal involvemente in Mitochondrial Disorders. Margarida Coelho |
| 17:00 17:30 |
The diagnosis of mitochondrial disease using multi-omic methodologies. Charlotte Alston |
| 17:30 17:45 |
Bolsa SPDM Dr Aguinaldo Cabral 2019 |
| 17:45 18:00 |
Bolsa SPDM | Recordati Rare Diseases 2019 |
| 18:00 |
Awards / closing remarks |
