I S Farooqi

TL;DR: The severe obesity found in two severely obese children who are members of the same highly consanguineous pedigree provides the first genetic evidence that leptin is an important regulator of energy balance in humans.

TL;DR: 18 new loci associated with body mass index are identified, one of which includes a copy number variant near GPRC5B, and genes in other newly associated loci may provide new insights into human body weight regulation.

TL;DR: The administration of leptin corrects their obesity by reducing their food intake and increasing their energy expenditure and these mice also have hyperinsulinemia, corticosterone excess, and infertility, which also are reversed by treatment with leptin.

TL;DR: A cohort of severely obese children in whom no evidence for a recognized clinical syndrome or a structural hypothalamic cause for their obesity has been found is identified, and one subject who was heterozygous for a 4-bp deletion at codon 211 is likely to result in a non-functional receptor.

TL;DR: The role of genetics in obesity is twofold: Studying rare mutations in humans and model organisms provides fundamental insight into a complex physiological process, and complements population-based studies that seek to reveal primary causes.