Research focus
In the Farooqi team, I use computational analysis of genomic data (DNA sequencing, RNAseq, metabolomics, multi-omic data sets) to study rare genetic causes of severe obesity in early childhood, and to understand the fundamental mechanisms controlling body weight. This work could inform the development of treatments for people born with a predisposition to develop severe obesity and its complications.
Background and experience
I originally studied maths and trained in computational biology, completing my PhD in the Functional Genomics group at EMBL-EBI and Cambridge. I did post-doctoral work in cancer genomics at King’s College London where I contributed to the detection of cancer molecular subtypes with different patterns of disease progression. I joined IMS-MRL to develop skills in genetic analysis of rare disorders, and to apply computational genomics techniques to the discovery of rare genetic disorders and their underlying mechanisms, at a time when genomic data resources are rapidly expanding.
Working at the IMS-MRL
Current projects involve identifying rare variants and genes which may have a role in severe early-onset obesity (GOOS study), a rare condition in which variants disrupting a single gene can cause severe dysregulation of appetite and energy balance. Rare and common genetic variants were previously found to affect appetite regulation by disrupting neuronal signalling in the hypothalamic region of the brain. We use additional layers of genomic information from many data resources to identify other genetic variants which may disrupt these key underlying processes. We also study a cohort of constitutionally thin people (STILTS study) to understand whether rare variants have a role in resistance to weight gain – do these variants disrupt the same fundamental mechanisms? In addition to the GOOS and STILTS studies, we study rare variants in UK Biobank and participants with rare severe early-onset obesity in the Genomics England 100,000 Genomes Project.
