I. Sadaf Farooqi

This study shows that Magel2 deficiency in a mouse model of Prader-Willi syndrome causes microglial structural changes and increased synaptic engulfment, altering neuron-microglia interactions and hypothalamic circuit function.

This study shows that a human BSX variant in mice disrupts circadian behavior and food anticipation but preserves lifespan and metabolic homeostasis.

The paper identifies functional PTP1B variants in thin individuals and uses structural biology to reveal allosteric sites for obesity drug development.

This study develops a medium-throughput assay to assess leptin secretion and identifies mutations causing proteasomal degradation or reduced secretion.

This paper develops a protocol to visualize sympathetic nerve terminals in human white adipose tissue using optical clearing and light sheet confocal microscopy.

The paper identifies the prevalence and phenotypic impact of loss of function mutations in the MC4R gene in a UK birth cohort, finding a 0.30% carrier rate with significant effects on body weight and BMI.

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

ProxECAT is a new method that uses external control allele frequencies to test for genetic associations in case-control studies, increasing power while maintaining type I error rates.

The paper identifies β-MSH and desacetyl-MSH as major POMC-derived peptides in human hypothalamic neurons, suggesting their underappreciated role in obesity.