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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 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...
This research paper looks at the challenges teenagers and young adults face when moving from pediatric to adult healthcare, specifically focusing on those with rare forms of diabetes including Bardet-Biedl Syndrome (BBS). The researchers found that this transition is particularly difficult for young...
**What the researchers found:** Scientists studied two families with children who have Bardet-Biedl Syndrome and discovered new genetic mutations in two specific genes called BBS10 and BBS12. These mutations cause the proteins made by these genes to become unstable and break down too quickly in cell...