My PhD
Title:
Exploring Patient Focused and Machine Learning interventions for Rare Disease Diagnosis
External Stakeholder:
Amicus
The Research:
Rare diseases are very difficult to diagnose due to their lack of prevalence since it is unlikely that clinicians have any past experience with these conditions. This leads to a diagnostic odyssey, an exceptionally long time to diagnose rare disease patients. During this time, patients have many tests, delayed treatments, and mistreatments due to misdiagnoses. This can have debilitating effects on their health.
This project aims to provide a platform for rare disease patients to enable earlier discussions with their healthcare providers and to empower them to have a stronger voice and a more active role in their healthcare. Rare disease patients know their symptoms best since they are the ones experiencing them. Furthermore, they are often keen to take an active role in their healthcare and diagnosis, but they generally lack the medical expertise to do this effectively. This project will use machine learning to guide and support people with rare diseases towards the key steppingstones that lead to a diagnosis and to enable them to have more successful discussions with their healthcare provider.