ALLMedicine™ Bardet-biedl Syndrome Center

Jul 2nd, 2021 - Bardet-Biedl syndrome (BBS) is a rare and genetically heterogeneous disease with a broad spectrum of clinical features, including but not limited to rod-cone dystrophy, postaxial polydactyly, central obesity, intellectual disability, hypogonadism,...

Jun 15th, 2021 - Overweight and obesity are common features of the rare disease Bardet-Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in the health and well-being of people with...

May 8th, 2021 - Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients' diagnosis, prognosis, surveillance and therapy. The present study applied a Next Generation Sequencing (NGS)-based pane...

Apr 29th, 2021 - Inherited retinal diseases (IRDs) can be caused by variants in >270 genes. The Bardet-Biedl syndrome 1 (BBS1) gene is one of these genes and may be associated with syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). Here, we...

Apr 22nd, 2021 - Primary cilia are microtubule-based organelles present on most cells that regulate many physiological processes, ranging from maintaining energy homeostasis to renal function. However, the role of these structures in the regulation of behavior rem...

Dec 3rd, 2019 - Although the Bardet-Biedl syndrome (BBS: severe obesity, polydactyly, learning disabilities, retinopathy, renal disease and cardiac malformations) was described more than 80 years ago, it is only over the past few years that extensive data on the ...

Oct 31st, 2018 - The purpose of the study is to determine the effect of setmelanotide (RM-493) on weight, hunger assessments and other factors in patients with rare genetic disorders of obesity, including POMC deficiency, LepR deficiency, Bardet-Biedl syndrome and...

Aug 7th, 2008 - This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure). The clinical, biological, ...

Jun 9th, 2004 - Clinical Presentation A 17-year-old male presented to our office with a history of difficulty seeing, particularly in the dark, for several years. His vision had gradually worsened since onset. He had been prescribed glasses by his optometrist, bu...