Research Interests

My research is focused on using human genetics to identify genes and biological mechanisms underlying susceptibility to metabolic disease, with an emphasis on early-life exposures and reproductive ageing. This is achieved through large-scale population studies where we perform genome-wide genetic screens for naturally occurring alleles influencing phenotype. Identifying genetic determinants of health and disease states has the potential to both highlight the underlying biology and inform epidemiology. For example, we can use genetic risk scores to predict individuals at high risk of common disease or infer causal relationships between diseases and modifiable risk factors. To advance biological understanding, my team collaborate with colleagues in the IMS-MRL and elsewhere to experimentally characterise identified genes in cellular and animal models.

In addition to my position in the IMS-MRL, I am an MRC programme leader in the MRC Epidemiology Unit and associate group leader at the Gurdon Institute.

 

Selected senior author publications

(Full publication list available at: https://scholar.google.com/citations?user=jBCUa64AAAAJ)

• Lam et al, ‘MC3R links nutritional state to childhood growth and the timing of puberty’ Nature (2021)
• Ruth et al, ‘Genetic insights into the biological mechanisms governing human ovarian ageing’ Nature (2021)
• Zhao et al, ‘GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health’. Nature Communications (2021)
• Pirastu et al, ‘Genetic analyses identify widespread sex-differential participation bias’ Nature Genetics (2021)
• Ruth et al, ‘ Using human genetics to understand the disease impacts of testosterone in men and women.’ Nature Medicine (2020)
• Thompson et al, ‘Genetic predisposition to mosaic Y chromosome loss in blood’ Nature (2019)
• Ganna et al, ‘Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior.’ Science (2019)
• Warrington et al, ‘Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.’ Nature Genetics (2019)
• Day et al, ‘Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nature Genetics (2017)
• Wright et al, ‘Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility. Nature Genetics (2017)
• Horikoshi et al, ‘Genome-wide associations for birth weight and correlation with adult disease’ Nature (2016).
• Day et al, ‘Physical and neurobehavioral determinants of reproductive onset and success’ Nature Genetics (2016)
• Day et al, Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.’ Nature Genetics (2015)