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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...
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...
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...
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...
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...
We report a case of Bardet-Biedl syndrome (BBS) complicated by bilateral Coats-like exudative vasculopathy with exudative retinal detachment and neovascular glaucoma (NVG). A 10-year-old boy noticed decreased visual acuity and was referred to our clinic. He had a history of retinitis pigmentosa, re...
Inherited retinal dystrophies (IRDs) are a diverse group of genetic disorders that lead to progressive vision loss, with non-syndromic and syndromic retinitis pigmentosa (RP) being one of the most common and genetically heterogeneous forms. This study aimed to explore the genetic landscape of IRDs i...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy associated with hyperphagic obesity and kidney disease. Evidence on setmelanotide after pediatric kidney transplantation is limited. We evaluated two children with BBS treated with setmelanotide after kidney transplantation, colle...
Ciliopathies comprise a spectrum of disorders involving mutations in over 150 genes affecting the primary cilium, with retinal degeneration as a prominent feature driven by concomitant developmental and maturation defects in photoreceptors and the retinal pigment epithelium (RPE). Current single-gen...
Eugenia Martínez Vallejo (1674-1699), famously portrayed by Juan Carreño de Miranda at the court of King Carlos II of Spain, has long been considered a historical example of Prader-Willi syndrome (PWS). More than 20 publications have supported this diagnosis based on her severe obesity, fa...
Esophageal squamous cell carcinoma (ESCC) remains a highly lethal malignancy, and reliable biomarkers for predicting metastasis and prognosis are urgently needed. Through comprehensive transcriptomic profiling, we identified Bardet-Biedl syndrome 5 (BBS5) as a potential biomarker of clinical signifi...