Rare Disease Forum

8th Rare Disease Day Symposium 2024

The Rare Disease Day Symposium 2024, took place on 1st March 2024, centered around the theme “”Beyond Borders: Bridging Gaps in Rare Disease Care” at the New Auditorium, Lady Ridgeway Hospital for Children. The event garnered participation from a diverse group of 100 attendees, including Consultant Paediatricians, Senior Registrars, Registrars, and members of the Rare Disease Forum.

Throughout the symposium, a series of case presentations were delivered by both paediatricians and postgraduate trainees, enriching the discussions and insights shared during the event.

The speakers of the webinar included:

  • Beyond subtle dysmorphism : Prof Ruwanthi Perera – Professor in Paediatrics, FMS, University of Sri Jayewardenepura
  • Genetic testing: an overview for clinicians: Dr Hasani Hewavitharana – Consultant Paediatric Clinical Geneticist (Acting), Lady Ridgeway Hospital for Children
  • Uric acid & inborn errors of metabolic disorders-clinical experience: Dr Eresha Jasinge – Chemical Pathologist, Lady Ridgeway Hospital for Children
  • Metabolic emergencies in Paediatrics: Dr Imalke Kankananarachchi Senior Lecturer in Paediatrics, Faculty of Medicine, University of Ruhuna
  • Role of bone marrow transplantation in rare diseases in children: Dr Prabani Maddumarachchi – Consultant Paediatric/Adolescent Oncology, National Cancer Institute

In conjunction with this event, we are proud to launch the first issue of our e-bulletin for the year 2024 – Volume 1, Issue 1. This inaugural edition was launched by Professor Harendra de Silva, whose contributions to the field have been invaluable.