I am currently an active researcher in the Regulatory Genomics and Metabolic Disease group, researching the functional genomics landscape of the liver under conditions of hyperlipidemia and hyperglycemia.
Genetics Society Local Ambassador Imperial College (White City).
As a Fellow of the Higher Education Academy, I deliver regular teaching and tutoring on several MSc courses, including Human Molecular Genetics and Applied Genomics. 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., 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
Maude H, Sanchez Cabanillas C, Cebola I, 2021, Epigenetics of hepatic insulin resistance, Frontiers in Endocrinology, Vol:12, ISSN:1664-2392, Pages:1-24
et al., 2019, NUMT confounding biases mitochondrial heteroplasmy calls in favor of the reference allele, Frontiers in Cell and Developmental Biology, Vol:7, ISSN:2296-634X
et al., 2019, A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B12 status (cB12) and connects B12 status with utilization of mitochondrial substrates and energy metabolism, The Journal of Nutritional Biochemistry, Vol:70, ISSN:0955-2863, Pages:156-163
et al., 2016, Functional interactions between polypyrimidine tract binding protein and PRI peptide ligand containing proteins, Biochemical Society Transactions, Vol:44, ISSN:0300-5127, Pages:1058-1065