Scientific Programme

Preliminary Programme

You can find an overview of the plenary program below.

Day 1Tuesday 3 September 2019
14.00-14.30 Opening Ceremony SSIEM 2019
14.30-16.00Plenary Session 1: Opening session
14.30-15.00Hans Clevers (UMC Utrecht / Hubrecht Institute, The Netherlands)
Title: Organoids as models of human disease
15.00-15.30Jan Hoeijmakers (Erasmus MC, Rotterdam, The Netherlands)
Title: The role of DNA damage repair and transcription stress in aging and the
impact of nutrition
15.30-16.00 Andrea Ballabio (University Federico II, Naples, Italy)
Title: The lysosome as a control center of cell metabolism
16:00-16:30Coffee Break
16.30-18.00 Plenary Session 2: RNA based therapy and Gene therapy
Chairs:
16.30-17.00Alberto Auricchio (Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy)
Title: AAV gene therapy for inherited diseases
17.00-17.30 Alessandra Biffi (Harvard Stem Cell Institute, Cambridge, USA)
Title: HSC gene therapy for neurometabolic and neurodegenerative disorders
17.30-18.00Annemieke Aartsma Rus (Leiden University Medical Center, The Netherlands)
Title: Opportunities and challenges for RNA and DNA therapy development
18:00-18:30 GARROD AWARD LECTURE
Day 2Wednesday 4 September 2019  
9:00-10:30Parallel Sessions 1
Session 1A:
Gene therapy





Chair:
Session 1B:
Amino acid
disorders
(including PKU)
and urea cycle
disorders

Chair:
Session 1C:
Disorders of haem biosynthesis, vitamins purines and pyrimidines




Chair:
Session 1D:
Glycosylation and carbohydrate disorders





Chair: Dirk Lefeber
& Eva Morava
9:00-9:15
9:15-9:30
9:30-9:45
9:45-10:00
10:00-10:15
10:15-10:30
5-6 Abstract-based
presentations
5-6 Abstract-based
presentations
5-6 Abstract-based
presentations
5-6 Abstract-based
presentations
10:30-11:00 Coffee Break
11.00-12.30Plenary Session 3: Regenerative medicine
Chairs:
11.00-11.30Christine Mummery (Leiden University Medical Center, the Netherlands)
Title: Human induced pluripotent stem cells come of age in modeling
cardiovascular disease
11.30-12.00Graziella Pellegrini (University of Modena and Reggio Emilia, Modena, Italy)
Title: Hurdles in successful examples of stem cell-based regenerative medicine
12.00-12.30Stephen Strom (Karolinska Institute, Stockholm, Sweden)
Title: On Ex vivo gene editing studies with human hepatocytes form patients with
urea cycle defects
12:30-14:30LUNCH / POSTER VIEWING
14:30-16:00Parallel Sessions 2
Session 2A:
Advances in diagnostics (including omics)


Chair:
Session 2B:
Organic acidurias



Chair:
Session 2C:
Lysosomal storage
disorders


Chair:
Session 2D:
Nutrition & dietetics



Chair:
14:30-14:45
14:45-15:00
15:00-15:15
5-6 Abstract-based
presentations
5-6 Abstract-based
presentations
5-6 Abstract-based
presentations
Jong Rho (Calgary, Canada) – working mechanism of ketogenic diet
15:15-15:30
15:30-15:45
15:45-16:00
4 Abstract-based
presentations
16:00-16:30Coffee break
16.30-18.00Plenary Session 4: Mitochondrial
Chairs:
16.30-17.00 Marni J. Falk (Children’s Hospital of Philadelphia, USA)
Title: On Advances in clinical diagnosis, treatment and prevention of
mitochondrial disease
17.00-17.30Eric A Schon (Columbia University, New York, USA)
Title: On Mitochondrial associated membrane and mito-ER links
17.30-18.00Shamima Rahman (UCL GOS, Institute of Child Health, London, United Kingdom)
Title: On The state of art of clinical trials
18:00 – 20:00POSTER WALK
Day 3 Thursday 5 September 2019  
09.00-10.30Plenary session 5: Metabolomics / System biology
Chairs:
09.00-09.30Ines Thiele (University of Luxembourg, Luxembourg)
Title: Modeling human metabolism in health and disease
09.30-10.00 Thomas Hankemeijer (University of Leiden, The Netherlands)
Title: On Innovative analytical tools for metabolomics-driven systems biology in
personalized health strategies. Metabolomics & high throughput analysis to
investigate monogenetic and complex disorders.
10.00-10.30Carmen Argmann (Icahn School of Medicine at Mount Sinai, New York, USA)
Title: On Generating network models in inflammatory bowel disease; finding novel
human beta cell regeneration strategies for Type 2 Diabetes and uncovering
genetic modifiers of screenable inborn errors of metabolism to explain
discrepancies between genotype and phenotype.
10:30-11:00Coffee break
11:00-12:30Parallel Sessions 3
Session 3A:
Disease modeling





Chair:
Session 3B:
Disorders of fatty
acid oxidation,
ketone- and
carbohydrate
metabolism

Chair: Ron Wanders
& Ute Spiekerkötter
Session 3C:
Patient cohorts and follow-up





Chair:
11:00-11:15
11:15-11:30
11:30-11:45
11:45-12:00
12:00-12:15
12:15-12:30
5-6 Abstract-based
presentations
5-6 Abstract-based
presentations
5-6 Abstract-based
presentations
12:30-14:00LUNCH / POSTER VIEWING
14:00-15:30Parallel Sessions 4
Session 4A:
New diseases




Chair:
Session 4B:
Metabolic
disorders in adults



Chair:
Session 4C:
Mitochondrial disorders




Chair:
EDUCATIONAL SESSION: CRISPR-CAS





Chair:
14:00-14:15
14:15-14:30
14:30-14:45
14:45-15:00
15:00-15:15
15:15-15:30
5-6 Abstract-based
presentations
5-6 Abstract-based
presentations
5-6 Abstract-based
presentations
Day 4Friday 6 September 2019
09.00-10.30Plenary Session 6: Lysosomes-Innovative insights
Chairs:
09.00-09.30Speaker to be announced
9:30-10:00Marjan Huizing (National Human Genome Research Institute, Bethesda, USA)
Title: On Lysosomal related organelles and disorders of sialic acid metabolism
which provides innovative views on intracellular trafficking and potential
pathways for innovative therapies
10:00-10:30Paul Saftig (Institute of Biochemistry, Kiel University, Germany)
Title: On Disorders and functions of lysosomal membrane proteins
10:30-11:00Coffee break
11:00-11:45KOMROWER LECTURE
Christine Vianey-Saban (France)
Title: From fatty acid oxidation to riboflavin - Make metabolites great again!
12:00-13:00Late Breaking News Session
12:00-12:15Oral presentation TBA
12:15-12:30Oral presentation TBA
12:30-12:45 Oral presentation TBA
12:45-13:00Oral presentation TBA
13:00-13:30 Awards | Presentation | Closing remarks