PRELIMINARY SCIENTIFIC programme

Sunday 23 August

15:00 - 21:30        
INFORM Meeting Part I (registration at INFORM – limited places, venue Hilton Helsinki Kalastajatorppa, NOT Messukeskus)

Monday 24 August

08:00 - 17:30        INFORM Meeting Part II (registration at INFORM – limited places, venue Hilton Helsinki Kalastajatorppa, NOT Messukeskus)
08:00 - 18:00UCD Guideline group meeting (by invitation only)
10:00 - 12:00eHOD (by invitation only)
12:00 - 14:00Recon4IMD (by invitation only)
13:00 - 15:00eHOD (by invitation only)
13:00 - SSIEM Dietitians’ Group Academy Review: addressing dietetic challenges (open to all)
14:00 - 16:00MetabERN plenary meeting (by invitation only)
16:00 - 19:00SSIEM Council meeting (by invitation only)
16:00 - 18:00MetabERN meetings (by invitation only)
  • MetabERN LSD SNW
  • MetabERN AOA SNW
  • MetabERN NOMS
  • MetabERN PM-MD
  • MetabERN PD SNW
  • MetabERN C-FAO SNW
16:30 - 20:30ERNDIM Board meeting (by invitation only)


Tuesday 25 August

8:00 - 12:00UCD Guideline group meeting (by invitation only)
08:15 - 10:00Introductory session by the local organizing committee: Brief talks on clinic,
lab and diet for those who are new to the field and to the SSIEM (open to all)
08:30 - 10:35
SSIEM Dietitians’ Group (DG): Nutrition and Dietetics session (open to all)
08:30 - 10:35SSIEM Adult Metabolic Physicians’ Group (AMPG): Tailoring and discontinuation of
therapy in adulthood (open to all)
9:00 - 10:30ERNDIM Workshops (by invitation only)
9:00 - 13:00JIMD Editorial Board Meeting (by invitation only)
11:00 - 12:00SSIEM DG & AMPG: Relaxation of PKU treatment in adulthood
11:00 - 12:45ERNDIM Open meeting
12:15 - 13:45SSIEM Adult Metabolic Physicians’ Group business meeting (SSIEM AMPG members only)
12:45 - 13:45Satellite meetings by the sponsors
14:00 - 14:10Opening of the Symposium
14:10 - 14:40Opening Lecture: From the zygote to a person: genes, epigenetics, environment, and
chance
Juha Kere (Sweden)
14:40 - 15:40Plenary 1 - The Foeto-Maternal Unit and Inborn Errors of Metabolism (IEM)
  • Prenatal Therapies for IEM
    Tippi McKenzie (USA)
  • Managing Pregnancy in Inherited Metabolic Disorders: A Dietary Approach
    Charlotte Ellerton (UK)
16:00 - 17:45SSIEM, MetabERN and ISNS session on Newborn screening (open to all)
16:15 - 17:45Parallel sessions A
  • A1: Dietetics and nutrition
  • A2: Protein modification disorders including CDG
  • A3: Mitochondrial disorders
  • A4: Gene and innovative therapies
17:50 - 18:30Garrod Award Lecture (speaker tbc)
18:30 - 21:00Welcome Reception, Posters
19:30 - 20:30YSSIEM (Young SSIEM) Inaugural Meeting (open to all)

Wednesday 26 August

07:30 - 08:30Speed Mentoring (details to follow)
07:30 - 08:30Satellite meetings by the sponsors
08:00 - 08:30Lab Talk by Philippa Mills (UK)
08:45 - 10:15
From presentation to diagnosis: a case-based education session with the SSIEM
Educational and Training (ETAC) Academy
08:45 - 10:15Parallel sessions B
  • B1: Fatty acid oxidation and related disorders
  • B2: Clinical studies and real world data
  • B3: Newborn screening
10:30 - 14:00Patient advocacy group (PAG) session: Making PAG work sustainable                      
10:40 - 12:15Plenary 2 - New Diseases and Mechanisms
  • What have we learned from the undiagnosed disease program?
    William Gahl (USA)
  • Niemann-Pick Disease Type C: From Molecular Pathways to Therapeutic Impact
    Frances Platt (UK)
  • From Curiosity to Mechanism: Discovering a Ribosomopathy in Cobalamin Deficiency
    Annita Achilleos (CYP) 
12:20 - 13:00SSIEM Advisory Council & Council meeting (by invitation only)
13:00 - 14:00SSIEM Annual General Meeting (AGM) (SSIEM members only)
14:00 - 16:00SSIEM Dietitians’ Group internal meeting (SSIEM DG members only)
14:00 - 16:00Ensuring Patient Access to Innovation in Rare Diseases (details to follow)
14:15 - 15:45Parallel abstract sessions C
  • C1: Disorders of vitamins and cofactors
  • C2: New methods
16:00 - 17:30Plenary 3 - Physics and Mathematics Enter the World of IEM                                  
  • Metabolism Through the Lens of Physics: Transduction Gears, Regulation, and 
    Metabolic Resilience
    Massimiliano Esposito (LUX)
  • Membrane biology, chemistry and physics (title tbc)
    Andre Nadler (GER)
  • Digital Metabolic Twins and Inherited Metabolic Diseases
    Ines Thiele (IRL)
17:30 - 19:30Poster Walk
18:30 - 20:30GalNet meeting (by invitation only)
18:30 - 19:30Satellite meetings by the sponsors

Thursday 27 August

07:00 - 08:30Speed Mentoring (details to follow)
07:00 - 8:00EHOD – CBS guidelines group (by invitation only)
07:30 - 08:30Satellite meetings by the sponsors
08:00 - 08:30LAB Talk by Sean Froese (CH)
08:45 - 10:15Plenary 4 - OMICS data help us understand pathology in metabolic pathways     
  • Metabolomics and glycoproteomics to understand sugar metabolism
    Dirk Lefeber (NL)
  • Bileomics – Uncovering New Pathways in Health and Disease
    William Griffiths (UK)
  • Global metabolomics and lipidomics implemented in routine diagnostics
    - examples of added value for unsolved cases
    Katja Elgstoen (NOR)
10:30 - 12:00Parallel abstract sessions D
  • D1: Lysosomal disorders
  • D2: Nurses’ and allied healthcare professionals’ meeting
  • D3: Neurometabolic disorders 
  • D4: Organic acidurias
11:15 - 12:15JIMD Editors meeting (by invitation only)
12:30 - 13:30Plenary 5 - Mitochondria Now and Forever
  • Integrating Multi-Omics to Define Mitochondrial Homeostasis
    Patrick Forny (USA)
  • Mitochondrial Insights into Fatty Acid Oxidation Disorders
    Rikke Olsen (DK)
  • Metabolic keys to unlock mechanisms in mitochondrial diseases
    Anu Suomalainen (FIN)
13:45 - 15:15Training in IEM: A roundtable discussion (details to follow)
(paed/adult clin, clin lab, diet, nursing) 
13:45 - 15:15Parallel abstract sessions E
  • E1: Phenylketonuria
  • E2: Urea cycle disorders
  • E3: Carbohydrate disorders

Friday 28 August

09:00 - 10:00Late-Breaking News: 4 talks
10:30 - 12:00Plenary 6 - Looking Forward
  • Metabolic gene regulation - from molecular mechanism to physiological
    outcomes
    Ville Hietakangas (FIN)
  • Through the looking-glass; Congenital Disorders of Glycocylation                 
    Eva Morava (USA)
  • Nutrition for Precision Health (title tbc)
    Holly Nicastro (USA)
12:00 - 12:45Komrower Lecture
  • Protein, Pathways and Personalised Nutrition
    Marjorie Dixon (UK)

12:45 - 13:00Awards Ceremony (LBN, posters)
13:00Closing remarks