My three wishes for rare disease are:
- More community-driven datasets
- More clinical trials
- More technology in place to help patients get diagnosed, supported, and treated sooner.
I am a group leader of the Pontikos Lab at the UCL Institute of Ophthalmology and the deputy director of the Moorfields Ophthalmic Reading Centre & Clinical AI Lab. My lab’s main research interest is around joint analysis of genetic and clinical data, such as medical imaging, to provide personalised care. Our current main project Eye2Gene aims to assist the genetic diagnosis of inherited retinal diseases. A lot of my work revolves around image analysis, ontologies, next-generation sequencing analysis methods, genomics pipelines, databases, software and web services. I also have co-founded a software company (www.phenopolis.com) that builds AI-enabled clinical trials.
Diagnostic Advances: Beyond the Genome
Get to know your omics: Metabolomics, transcriptomics, proteomics and AI! Opening up a new level of diagnostic potential for rare diseases.
My three wishes for rare disease are:
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