Shining A Light On Rare Disease

For Rare Disease Day 2026, join us for a talk about different approaches to researching rare disease, and the challenges and opportunities afforded by Artificial Intelligence models.

We are pleased to host a series of talks by geneticist, data scientists, and patient advocates. These talks will be followed by a panel discussion and opportunity for audience questions.

(Please note this will be a hybrid event. Online attendees will be able to submit live questions through the Q&A function.)

Speaker programme

Natalie Frankish, Head of Scotland and Public Affairs, Genetic Alliance UK

Rare Disease Day 2026: Equity for Rare

Prof. Pleasantine Mill, Personal Chair of Cilia Biology

AI's Promise for Rare Diseases: From Finding Patients to Finding Cures

Prof. Grzegorz Kudla, Personal Chair of Genetic Engineering

Why some mutations cause disease, and others don't

Dr. Lukas Tamayo Orrego, Principal Investigator in Genetics of Neurodevelopment and Disease

How a computer simulation shed light on the cause of a genetic disorder

Prof. Joseph Marsh, Personal Chair of Computational Protein Biology

Overcoming ancestry bias in AI-based rare disease diagnosis

After the panel discussion, attendees are invited to join us in the Nucleus Cafe for a reception, poster showcase, and opportunities for further conversation.