Shining A Light On Rare Disease For Rare Disease Day 2026, we looked at the different approaches to researching rare disease, and the challenges and opportunities afforded by Artificial Intelligence models.We hosted a series of talks by geneticists, data scientists and patient advocates. The talks were followed by a panel discussion and opportunity for audience questions. Speaker programme Natalie Frankish, Head of Scotland and Public Affairs, Genetic Alliance UKRare Disease Day 2026: Equity for RareProfessor Pleasantine Mill, Personal Chair of Cilia BiologyAI's Promise for Rare Diseases: From Finding Patients to Finding CuresProfessor Grzegorz Kudla, Personal Chair of Genetic EngineeringWhy some mutations cause disease, and others don'tDr Lukas Tamayo Orrego, Principal Investigator in Genetics of Neurodevelopment and DiseaseHow a computer simulation shed light on the cause of a genetic disorderProfessor Joseph Marsh, Personal Chair of Computational Protein BiologyOvercoming ancestry bias in AI-based rare disease diagnosis After the panel discussion, attendees were invited to join the speakers in the Nucleus Cafe for a reception and the opportunity to view posters. Recording of the Rare Disease Day 2026 Shining A Light on Rare Disease eventAI and Rare Disease: Discovering the Missing Pieces Mar 04 2026 17.30 - 20.00 Shining A Light On Rare Disease AI and Rare Disease: Discovering the Missing Pieces. The Institute of Genetics and Cancer
Shining A Light On Rare Disease For Rare Disease Day 2026, we looked at the different approaches to researching rare disease, and the challenges and opportunities afforded by Artificial Intelligence models.We hosted a series of talks by geneticists, data scientists and patient advocates. The talks were followed by a panel discussion and opportunity for audience questions. Speaker programme Natalie Frankish, Head of Scotland and Public Affairs, Genetic Alliance UKRare Disease Day 2026: Equity for RareProfessor Pleasantine Mill, Personal Chair of Cilia BiologyAI's Promise for Rare Diseases: From Finding Patients to Finding CuresProfessor Grzegorz Kudla, Personal Chair of Genetic EngineeringWhy some mutations cause disease, and others don'tDr Lukas Tamayo Orrego, Principal Investigator in Genetics of Neurodevelopment and DiseaseHow a computer simulation shed light on the cause of a genetic disorderProfessor Joseph Marsh, Personal Chair of Computational Protein BiologyOvercoming ancestry bias in AI-based rare disease diagnosis After the panel discussion, attendees were invited to join the speakers in the Nucleus Cafe for a reception and the opportunity to view posters. Recording of the Rare Disease Day 2026 Shining A Light on Rare Disease eventAI and Rare Disease: Discovering the Missing Pieces Mar 04 2026 17.30 - 20.00 Shining A Light On Rare Disease AI and Rare Disease: Discovering the Missing Pieces. The Institute of Genetics and Cancer
Mar 04 2026 17.30 - 20.00 Shining A Light On Rare Disease AI and Rare Disease: Discovering the Missing Pieces.
