Programme

Friday, 29 May 2026

9:00 – 9:10 Conference opening: Dr Marek Migdał, MD – Director of the The Children’s Memorial Health Institute; Prof. Dariusz Rokicki, MD, PhD; Milena Greczan, MD; Dorota Cimięga

Session moderators: Milena Greczan, MD; Edyta Heropolitańska-Pliszka, MD, PhD

9:10 – 9:40 The role of glycosylation in human biology – Prof. Marcin Czerwiński, PhD, Laboratory of Glycobiology, Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław

9:40 – 10:00 CDG Through the Years: From First Discovery to Current Understanding – Prof. Jaak Jaeken, Centre for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Belgium (online)

10:00 – 10:20 An Overview of Congenital N- and O-Glycosylation Disorders and Mixed Forms – Andrew Edmondson MD, PhD, Division of Human Genetics, Department of Paediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA (online)

10:20 – 10:35 Coffee break

Session moderators: Dariusz Rokicki, MD, PhD, and Milena Greczan, MD

10:35 – 10:55 Congenital disorders of GPI anchor synthesis – Michał Patalan, MD, PhD, Department of Paediatrics, Rare Diseases and Metabolic Medicine, Pomeranian Medical University in Szczecin

10:55 – 11:15 CDG and cardiology – Dr Joanna Friedman, MD, Department of Cardiac Surgery, The Children’s Memorial Health Institute, Warsaw, Poland

11:15 – 11:35 What links CGD and IEI – from theory to practice – Dr Edyta Heropolitańska-Pliszka, MD, Immunology Clinic, The Children’s Memorial Health Institute, Warsaw, Poland

11:35 – 11:55 The theory of ER stress and the Unfolded Protein Response in CDG. Impact on immunology and haematology – Prof. Wojciech Młynarski, MD, PhD, Department of Paediatrics, Oncology and Haematology, Medical University of Łódź, Poland

11:55– 12:05 Discussion

12:05 – 12:20 Coffee break

Session chairs: Prof. Robert Śmigiel, MD, PhD, and Milena Greczan, MD

12:20 – 12:35 Neurological disorders in CDG – Dr Dariusz Rokicki, MD, PhD, Department of Paediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland

12:35 – 12:55 Stroke-Like Episodes in PMM2 CDG: Early Evidence from European Cohorts and Transcriptomic Approaches – Dr Florencia Epifani and Prof. Mercedes Serrano, Department of Paediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Barcelona, Spain (online)

12:55 – 13:15 Nephrological problems in CDG – Agnieszka Janiec, Department of Paediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland

13:15 – 13:30 CDG in the perinatal period – Milena Greczan, Department of Paediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland

13:30 – 13:40 Discussion with all speakers

13:40 – 15:00 Lunch

Session chairs: Dr Dorota Wesół-Kucharska, MD, Milena Greczan, MBBS

15:00 – 15:20 Diagnostic options for congenital glycosylation disorders – biomarkers, biochemical diagnostics – Dr Anna Bogdańska, MD, Department of Metabolic Disorders, The Children’s Memorial Health Institute, Warsaw, Poland

15:20 – 15:40 Genetic diagnosis of congenital disorders of glycosylation – possibilities and uncertainties – Prof. Robert Śmigiel, MD, PhD, Department of Paediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wrocław, University Centre for Rare Diseases in Wrocław

15:40 – 16:00 Advances in the Treatment of Congenital Disorders of Glycosylation and Future Perspectives – Prof. Eva Morava, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, NY, USA

16:00 – 16:15 Drug repurposing – Dr Ethan Perlstein, Perlara

16:15 – 16:25 Break

16:25 – 16:45 A parent’s perspective – Dorota Cimięga

16:45 – 16:55 10 minutes with CDG CARE – presentation by the international non-profit organisation bringing together patients and specialists – CDG Community Alliance and Resource Exchange

16:55 – 17:10 Discussion, end of the day

Parallel activities and entertainment for children

19:00 Dinner

Saturday 30 May 2026
workshops for parents and specialists

9:30 – 9:50 Alternative communication methods – Agnieszka Warzecha, MSc, Physiotherapy Unit, Rehabilitation Clinic, The Children’s Memorial Health Institute, Warsaw, Poland

9:50 – 10:10 Barrier-free communication – the use of AAC and the MÓWik app for children with congenital disorders of glycosylation (CDG) and complex communication difficulties – Sebastian Szufa, Mówik

10:10 – 10:30 Break

10:30 – 11:00 Physiotherapy at home – Physiotherapy Department, Rehabilitation Clinic, The Children’s Memorial Health Institute, Warsaw, Poland

11:00 – 11:30 Feeding difficulties – how to work with the child – Agnieszka Warzecha, MSc, Physiotherapy Unit, Rehabilitation Clinic, The Children’s Memorial Health Institute, Warsaw, Poland

11:30 – 12:00 Nutrition for patients with congenital glycosylation disorders – Alicja Syc, MSc, and Katarzyna Chyż, MSc, Department of Paediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland

12:00 – 12:30 The ups and downs of caring for a child with a chronic illness – Karolina Gątarek, MSc

12:30 – 14:00 Lunch

14:00 Workshops – Q&A sessions