September 5 (9:00-12:30)

Preliminary Program
Chair: Annemiek van Wegberg (Nijmegen, Netherlands)
Co-chair: Veronica Cornejo (Santiago, Chile)

09:00 – 09:10 Introduction
09:10 – 09:45 From newborn screening to genomics. Changing style of dietary management.
09:45 – 10:15 Arginine supplementation in glutaric aciduria type 1 - particularly emergency management
10:15 – 10:45 Understanding gut flora and impact in IMD conditions
10:45 – 11:15 COFFEE BREAK
11:15 – 11:45 Genetically engineered probiotics for the treatment of PKU
11:45 – 12:20 Amino-acid supplementation in MMA/PA: more harm than good? Effect of branched changed AA versus intact protein on AA ratio.
12:20 – 12:30 Wrap-up

Preliminary Program
Chair: Jerry Vockley (Pittsburgh, PA, USA)
Co-chair: Lina Ghaloul-Gonzalez (Pittsburgh, PA, USA)
Co-chair: TBC

09:00 – 09:10 Introduction
O9:10 – 09:50 Genetic discovery among the Plain populations x precision medicine
09:50 – 10:30 Determining the Best Liver Transplant Options in IEMs
10:30 – 11:00 Coffee Break
11:00 – 11:40 Reduced Intensity Cord Blood or BMT for IEMs
11:40 – 12:20 Utilizing Natural History to Assess Outcomes for Novel Therapies
12:20 – 12:30 Wrap-Up

Preliminary Program
Chair: Ronald Wanders (Amsterdam, Netherlands)
Co-chair: TBC

09:00 – 09:10 Introduction
09:10 – 09:50 Cardiolipin and the changing face of Barth Syndrome.
09:50 – 10:30 Etherphospholipids and inborn errors of metabolism
11:00 – 11:40 Coffee Break Defects in fatty acid chain elongation
11:40 – 12:20 Lipidomics as a new tool to identify unrecognized defects in fatty acid homeostasis
12:20 – 12:30 Wrap-up

(25 presentation + 5 minutes questions for each topic)

- Opening Ceremony
- IEM in the Era of Genomic Medicine
- Potential interface between rare and common diseases
- Rare Diseases and Challenges to Health Care

- Bioinformatics tools in IEM: genotype-phenotype correlation and prediction
- One disease, several phenotypes – The POLG case
- One phenotype, several diseases – The SMA case

- Small Molecules: Substrate inhibition/Chaperones/Stop Codon Read Through/Others
- Soluble Carrier Transporters
- Gene Therapy in IEM

- Global overview of NBS
- Is there a limit for the expansion of NBS?
- Whole Genome Sequencing as a Tool for NBS

- Massive Parallel Sequencing as a first line test for IEM diagnosis
- IEM as an incidental diagnosis in the investigation with NGS
- Pathogenic genotypes in healthy subjects

- Contemporary Mitochondrial Medicine
- Peroxisomal Disorders
- Overview on the development of therapies for LSDs

- Late Breaking News (3 presenters to be selected from the abstracts)
- JIEMS Award (1 winner to be selected from the JIEMS papers)
- Chamoles Lecture (1 speaker to be decided by SLEIMPN)
- Next meetings presentations (5 minutes for each society, 10 min for ICIEM)
(San Diego 2018, Athens 2018, JSIMD 2018, HGSA 2018, Buenos Aires 2019, Sydney 2021)

4 sessions on Newborn Screening/Dietetics
4 sessions on Organelles (Mitochondria, Lysosomal, Peroxisomes, ER/Golgi)
4 sessions on Intermediate Metabolism
4 sessions on Miscellaneous subjects

Overview/update (20 min + 5 min)
Oral communication from abstracts (12 min + 2 min)
Oral communication from abstracts (12 min + 2 min)
Oral communication from abstracts (12 min + 2 min)
Oral communication from abstracts (12 min + 2 min)

4 Simultaneous Parallel Sessions

PA 1Peroxisomal Disorders

PA 2Orphan Drug Development: Lessons Learned

PA 3Population Medical Genetics & IEM

PA 4Dietary Treatment of IEM

4 Simultaneous Parallel Sessions

PA 5Mitochondrial Disorders

PA 6Fatty Acid Oxidation Disorders

PA 7IEM in Developing Regions

PA 8Newborn Screening around the World

4 Simultaneous Parallel Sessions

PA 9Lysosomal Disorders

PA 10Citrin Metabolism & Miscellaneous Disorders

PA 11Psychopathology and Metabolism

PA 12Vitamin and Micronutrients Metabolism

4 Simultaneous Parallel Sessions

PA 13Congenital Disorders of Glycosylation (ER/ Golgi)

PA 14Ketone Bodies: Energy Supply and Epigenetics

PA 15Networking Experiences & Remote Diagnosis/ Follow-Up of IEM

PA 16Gut Microbioma and Human Metabolism

Organizing Committee Liason: Ida D. Schwartz (Porto Alegre, Brazil)
Contact email: [email protected]

(September 3 & 4)
Contact Person: Jerry Vockley (Pittsburgh, PA, USA)
Contact Email: [email protected]

(September 4)
Contact Person: Gustavo Borrajo (La Plata, Argentina)
Contact Email: [email protected]

(September 4)
Contact Person: Annemiek van Wegberg (Nijmegen, Netherlands)
Contact Email: [email protected]

(September 4)
Contact Person: Tara Morrison (Baulkham Hills, NSW, Australia)
Contact Email: [email protected]

PRELIMINARY SCHEDULE

SEP 5 – TBC
SEP 6 – Genzyme, BioMarin, Centogene
SEP 7 – Genzyme, Shire

SEP 5 – Amicus, Biomarin, Sobi, Shire
SEP 6 – (Reserved for Organizing Societies Business Meetings)
SEP 7 – Genzyme, Biomarin, Orphan, Shire
SEP 8 – TBC