A syndrome is a group of symptoms which consistently occur together.
Firstly what is the difference between a syndrome and a disease? A disease is a disorder of the structure or function of an organism (animal, plant, human), that produces symptoms, or that affects a specific location. Diseases can be caused by external factors (pathogens e.g. bacteria, viruses, parasites and internal factors (mutations (genetic disorders), immune system) (1).
A syndrome is a group of symptoms which consistently occur together. A good analogy for this is food. Foods such as fish and chips, soup, and jollof rice are made up of different and distinct ingredients. Imagine that the ingredients that make up the food are the symptoms that make up a condition.
"The more we understand about conditions such as BBS and the genes associated with them, the more targeted our therapies can be"
BBS is an autosomal recessive syndrome caused by the mutation of many genes. Autosomal recessive means that each parent is a carrier, and when they have a child, the child with bbs will inherit one copy of the mutated gene from each parent. As its autosomal recessive, there is a one in 4 chance of having a child with BBS if both parents are carriers.
In the case of BBS, these mutations can manifest themselves in the form of: progressive visual impairment (due to cone dystrophy), extra fingers or toes (polydactyly), obesity, decreased function of the male gonads (hypogonadism), kidney abnormalities, and learning difficulties (2).
Mutations from at least 14 mutations cause BBS, these are referred to as the BBS genes. The genes produce proteins that are essential components for the bodies processes and systems. 25% of BBS cases include a mutation in the BBS1 gene and 20% are caused by the BBS10 gene. Carrying on with my food analogy, each soup dish is different, you can tomatoes, peppers, tomato, cheese... depending on what you want.. In a similar way, additional mutations can occur which produce a different variation of the symptoms or they can modify the course of the syndrome (3).
There currently isn’t a cure for BBS, however, there are treatment options that are available to help with the symptoms.
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There is a lot of exciting research going on for BBS. Researchers use animal models to further understand the progression of the disease. The more we understand about conditions such as BBS and the genes associated with them, the more targeted our therapies can be.