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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 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...
This research study looked at using a medication called semaglutide to help two children - one with Bardet-Biedl syndrome and one with Alström syndrome (a related condition). Both of these rare genetic conditions cause problems with weight gain and insulin resistance (where the body doesn't respond...
This study looked at 5 girls born with a rare condition called "incomplete cloaca" - a birth defect where the urinary, reproductive, and bowel openings don't develop normally. All these girls also had extra fingers or toes (polydactyly) and initially came to doctors as newborns because of fluid buil...
**What This Study Found:** Researchers treated a patient who has Bardet-Biedl Syndrome with a medication called setmelanotide, which is normally used to help with severe obesity. This patient also had chronic hives (red, itchy bumps on the skin) that wouldn't go away despite trying standard treatmen...
This research paper describes the importance of looking for signs throughout the entire body when diagnosing Bardet-Biedl Syndrome (BBS), not just focusing on vision problems alone. The researchers found that when a patient has retinitis pigmentosa (a condition that causes vision loss), doctors sho...
This study looked at a Pakistani family where 8 people had Bardet-Biedl Syndrome (BBS) to understand which genetic changes might be causing their condition. The researchers examined three specific genes (BBS10, BBS6, and BBS12) that are known to be linked to BBS, comparing the DNA of affected family...
This study looked at 18 patients with Bardet-Biedl Syndrome (BBS) at a German eye hospital to better understand how the condition affects vision and what other symptoms patients experience. The researchers found that nearly all patients (17 out of 18) had a specific type of vision problem called ret...
This study looked at 25 people with Bardet-Biedl Syndrome (BBS) in Turkey - the largest group of confirmed BBS patients studied in that country. The researchers used genetic testing to examine the DNA of these patients and found that all of them had harmful changes (mutations) in genes that cause BB...
This research paper examines primary cilia - tiny structures found on most cells that act like cellular "antennas" for receiving and processing signals. Scientists used to think these structures weren't very important, but now understand they play a crucial role in brain development by helping coord...
This research studied cells in the laboratory to better understand how Bardet-Biedl Syndrome (BBS) affects kidney function. The scientists used a gene-editing tool called CRISPR to remove the BBS1 gene from cells, then studied how this change affected important cell processes. They focused on a biol...