All indicated times are based on Greenwich Mean Time (GMT, London)
| Time (GMT) | Thursday, December 3rd 2020 |
|---|---|
| 12:00 | Start |
| 12:00-12:30 | |
| 12:30-12:45 | Break |
| 12:45-13:15 | |
| 13:15-13:30 | Break |
| 13:30-13:35 | Introduction from the SSIEM President |
| 13:35-14:30 | Adult Group Session Chair: |
| 13:35 | Educational programme for Adult Metabolic Medicine |
| 14:00 | Update on complex lipid disorders |
| 14:25 | Q&A |
| 14:30-15:00 | Archibald Garrod Award Lecture |
| 14:30 | Introduction |
| 14:35 | Archibald Garrod Award Lecture Clinical, radiological, and genetic characteristics in patients with ACO2 gene defects: an emerging neurometabolic syndrome |
| 15:00-15:15 | Break |
| 15:15-17:00 | Invited lectures Chairs: |
| Metabolic cutis laxa and The Golgi |
|
| The International Classification of lnherited Metabolic Disorders, ICIMD Shamima Rahman (London, United Kingdom) Johannes Zschocke (Innsbruck, Austria) |
|
| News from the FDA: Orphan drug development |
|
| In vivo gene therapy for Metabolic Diseases: state of the art and future perspectives |
|
| Developing therapy for ultra-rare inherited metabolic disease: lessons from Niemann-Pick disease type C |
|
| 16:45 | Q&A |
| 17:00-17:15 | Break |
| 17:15-18:00 | Komrower Lecture Introduction: |
| Elucidating the causes of metabolic disorders: the new veins to explore |
|
| 18:00-19:00 | Late breaking news Chair: |
| An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids |
|
| A novel brain and heart developmental syndrome caused by impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 |
|
| A new neurological disease due to PGM2L1 deficiency leads to defective production of glucose-1,6-bisphosphate, but not to a glycosylation defect |
|
| GFUS-CDG, a new glycosylation disorder treatable with L-fucose |
|
| Q&A | |
| 19:00-19:50 | SSIEM Annual General Meeting (all SSIEM Members invited but RSVP) |
| 19.50-20.00 | A message from the ICIEM 2021 Closing remarks |
| 20:00-21:00 |