Discovery in monkeys could lead to treatment for blindness-causing syndrome. A genetic mutation that leads to a rare, but devastating blindness-causing condition called Bardet-Biedl Syndrome has been discovered in monkeys for the first time. The finding offers a promising way to develop gene and cell therapies that could treat people with the condition, which leads to vision loss, kidney disfunction, extra fingers or toes, and other symptoms. Source 1f.
Lithium treats intellectual defects in mouse model of Bardet-Biedl Syndrome. Mice with symptoms that mimic Bardet-Biedl Syndrome (BBS) have difficulty with learning and generating new neurons in the hippocampus. However, according to a new study, these mental defects can be successfully treated with lithium. Source 4e.
Bardet-Biedl syndrome is an autosomal recessive condition characterized by the presentation of retinal dystrophy, obesity, polydactyly, mental retardation, and hypogonadism (1,2). Heart and kidney disorders are also common. The case of a child is presented, explored from the age of 4 years.