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Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by pleiotropic clinical manifestations including retinal degeneration, obesity, polydactyly, intellectual disability, renal abnormalities, and hypogenitalism. Significant genetic heterogeneity exists, with over 20 ge...
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by extensive clinical heterogeneity, which often complicates its diagnosis. The present study reported the case of a 31-year-old woman who presented with longstanding, poorly controlled type 2 diabetes mellitus and i...
Biallelic CFAP418 variants cause retinal degeneration with variable extraocular findings. The principal contribution of this familial case series is a comparison of four affected siblings carrying the same previously reported splice-donor variant, with explicit separation of original clinical record...
Ciliopathies are genetically heterogeneous disorders of primary cilia that frequently involve the liver in childhood, producing a spectrum of hepatobiliary pathology. Primary cilia on cholangiocytes and hepatic progenitors are mechano-, chemo-, and osmo-sensors essential for remodelling of the ducta...
Inherited retinal diseases (IRDs) are a clinically and molecularly heterogeneous group of monogenic disorders that cause vision loss across all age groups. This study set out to define the mutational landscape of IRDs among patients evaluated at a tertiary center in Northwest China. Next-generation...
Understanding how obesity-associated genes function within defined neuronal subpopulations remains a major barrier to translating human genetics into pathophysiological mechanisms. Melanocortin-4 receptor-expressing (MC4R) neurons are key regulators of energy homeostasis and represent a potential si...
Leptin receptor (LEPR) deficiency, pro-opiomelanocortin (POMC) deficiency, Bardet-Biedl syndrome (BBS), and acquired hypothalamic obesity (HO) are diseases of the melanocortin 4 receptor (MC4R) pathway that often lead to insatiable hunger and severe obesity. As targeted treatments, such as setm...
An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway-Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2-4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity cau...
Bardet-Biedl syndrome (BBS) is a multisystem ciliopathy characterized by progressive retinal degeneration alongside metabolic, renal, endocrine, and neurodevelopmental manifestations, resulting in profound quality of life (QoL) impairment. In the absence of disease-modifying therapies, patient- and...
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, rod-cone dystrophy, polydactyly, developmental delay, renal dysfunction, and genitourinary abnormalities. We report the case of a 27-year-old female with previously undiagnosed BBS who presented with acute kidne...
The ciliary membrane is an active, highly specialized lipid landscape that dictates ciliary identity and function. Distinct from the surrounding plasma membrane, it exhibits a tailored lipid architecture-enriched in specific phosphoinositides, cholesterol, and sphingolipids-that shapes membrane curv...
Bardet-Biedl syndrome (BBS) is a syndromic ciliopathy characterized by multiple clinical features, including obesity and kidney disease. Therapeutic options remain limited. Setmelanotide, a melanocortin-4 receptor (MC4R) agonist, is approved for obesity in BBS, but real-world data in adults is scarc...