I am currently a postdoctoral Research Associate in the Regulatory Genomics and Metabolic Disease group, researching the functional genomics landscape of the liver under conditions of hyperlipidemia and hyperglycemia.
I specialise in bioinformatics, including the analysis of whole-genome, whole-exome and targeted sequence data, as well as RNA-seq, ATAC-seq and ChIP-seq data (see the Cebola Lab RNA-seq and ATAC-seq online tutorials).
I completed my PhD in 2019, titled 'the role of mitochondrial dysfunction in the onset of Type 2 Diabetes', carried out with Dr Toby Andrew at Imperial College. My interests cover complex and rare diseases, including the heritability of metabolic pathways and insulin resistance, mitochondrial diseases and non-alcoholic fatty liver disease. In particular, I study the roles of rare variants and non-coding, functional mutations in causing disease, including undiagnosed cases of mitochondrial disease registered in the 100,000 Genomics Project.
In my spare time, I love to read popular science novels (and dream of writing my own!), paint, and play video games. For thoughts, discussions and general conversation, drop a message via my twitter!
et al., 2023, Pre-RNA splicing in metabolic homeostasis and liver disease., Trends Endocrinol Metab, Vol:34, Pages:823-837
et al., 2023, Liver sinusoidal endothelial transcription factors in metabolic homeostasis and disease, Journal of Molecular Endocrinology, Vol:71, ISSN:0952-5041, Pages:1-20
Maude H, Cebola I, 2023, Zooming into process-specific risk., Nature Metabolism, Vol:5, ISSN:2522-5812, Pages:730-731
et al., 2022, GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements, Nature Communications, Vol:13, ISSN:2041-1723
et al., 2021, New Insights Into Mitochondrial Dysfunction at Disease Susceptibility Loci in the Development of Type 2 Diabetes, Frontiers in Endocrinology, Vol:12, ISSN:1664-2392