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This research report describes four children from two Pakistani families who were diagnosed with Bardet-Biedl Syndrome (BBS) based on their symptoms, since genetic testing wasn't available. The study looked at two pairs of siblings - two brothers aged 17 and 21 from one family, and a 9-year-old boy...
This study looked at the genetic causes and symptoms of Bardet-Biedl Syndrome (BBS) in 15 patients from India. The researchers used advanced genetic testing to identify which specific genes were damaged in each patient, then compared the symptoms to see if certain gene problems caused more severe il...
No abstract available for this paper.
This study looked at a medication called setmelanotide in 26 people with Bardet-Biedl Syndrome (BBS) to see if it could help with some of the serious health problems that come with this condition. All patients in the study had fatty liver disease (a condition where fat builds up in the liver), and m...
This study describes a 6-month-old baby girl who was initially thought to have Bardet-Biedl Syndrome (BBS) but actually had two separate genetic conditions. The baby had severe vision problems from birth (unable to track objects visually, with rapid eye movements called nystagmus) and extra fingers...
This study looked at a medication called setmelanotide to help with weight management in people with Bardet-Biedl Syndrome (BBS). The researchers compared 29 patients who took setmelanotide for one year with 58 similar patients who didn't receive the treatment. They wanted to see if the medication h...
This research studied proteins involved in Usher syndrome type 2 (USH2), which is the most common form of inherited deaf-blindness. The scientists focused on understanding how three key proteins (usherin, ADGRV1, and whirlin) work together in the eye's light-sensing cells. They used laboratory techn...
This research describes a baby boy who developed obesity very early in infancy along with other signs like extra fingers (polydactyly) and underdeveloped genitals. Doctors suspected a genetic condition called Bardet-Biedl syndrome (BBS), which is a rare inherited disorder that affects multiple parts...
This study used mice to investigate how Bardet-Biedl Syndrome affects the pituitary gland, which is a small but important gland in the brain that produces hormones controlling growth, reproduction, and other body functions. The researchers compared normal mice to mice missing the BBS4 gene (which ca...
This study looked at a Pakistani family where multiple members had Bardet-Biedl Syndrome (BBS) to find the genetic cause of their condition. The researchers used advanced genetic testing called whole-exome sequencing to examine all the genes in the family's DNA. The scientists discovered a new gene...
This research looked at inherited eye diseases (called IRDs - conditions that cause vision loss and blindness that run in families) among Indigenous communities around the world. The researchers reviewed 73 studies covering 581 patients from 24 countries to understand how common these conditions are...
This paper reports on a 14-year-old boy from North India who was diagnosed with Bardet-Biedl Syndrome (BBS). He came to the hospital with a lung infection, but doctors discovered he had the classic signs of BBS: extra fingers or toes (polydactyly), eye problems that can lead to vision loss, and obes...