Contact CamRARE

Contact CamRARE

Professor William Griffiths

Swansea University

William Griffiths

I am chemist/biochemist using “omics” technology to enhance the diagnosis of rare diseases.
I work at Swansea University, and before that the School of Pharmacy in London and at Karolinska Institutet in Stockholm. My particular focus is lipidomics, i.e. the study of the different fat molecules including cholesterol in our body. We use a technique called mass spectrometry to perform these studies. Mass spectrometry allows us to identify and quantify the different fats in our blood and tissues. This can help us understand more about a fat related disorder, help in its diagnosis and aid us monitor response to therapy.

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 the future of rare disease are: Application of lipidomics and metabolomics to monitor disease progression and response to therapy; greater use of newborn screening to include metabolic markers; and fast turn around for omics analysis.

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