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A person’s thinness, like obesity, is a heritable trait linked to multiple genes, and slimmer people carry fewer genetic variants that increase the risk for obesity, a new study shows. The study, “Genetic architecture of human thinness compared to severe obesity,” was published in the journal PLOS Genetics.

A new type of mutation affecting the BBS1 gene was identified in a patient diagnosed with Bardet-Biedl syndrome (BBS), a case report states. The study, “Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome,” was published in the journal Molecular Genetics & Genomic Medicine.

A new mutation in the leptin receptor (LEPR) gene, leading to loss of the LEPR protein, has been identified in male and female members of an Iranian family, a study reports. However, the outcomes of the mutation varied with gender — in males, early-onset obesity began to decrease around puberty…

A report describes the rare case of a woman with Bardet-Biedl syndrome (BBS), endometrial cancer, signs of excess estrogen, and who underwent removal of her uterus and fallopian tubes. The case report, “Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome,” was published in the journal…

A case report of an Iranian patient with Bardet-Biedl syndrome (BBS) identified two new mutations associated with the genetic condition. The findings were established using a large-scale gene sequencing approach known as next-generation sequencing. The case report, “Identification of A Novel Compound Heterozygous Mutation in BBS12 in An…

Levels of a protein called fibronectin in urine of Bardet-Biedl syndrome (BBS) patients correlate with renal dysfunction, a study shows, suggesting that fibronectin could be a potential biomarker for BBS patients at risk of kidney failure. The study, “Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline…

Targeting the Iroquois homeobox 3 (IRX3) gene in a particular type of neuron located in the hypothalamus — the brain region regulating body fat — is a potential strategy for treating obesity, a new study shows. The study, “The partial inhibition of hypothalamic IRX3 exacerbates obesity” was published in the…

With its first enrollee, Rhythm Pharmaceuticals has begun a pivotal Phase 3 trial to assess the therapeutic benefits of setmelanotide in patients with moderate-to-severe Bardet-Biedl syndrome…

People with a specific variant in the gene coding for the vitamin D receptor have almost twice the risk of being obese, a study suggests. The study, “New evidence for associations between vitamin D receptor polymorphism and obesity: case-control and family-based studies,” was published in the Journal of…