Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that impacts around 250,000 individuals worldwide. This condition affects various aspects of the body, particularly manifesting in issues related to weight and appetite.
Compulsive eating, early-onset obesity, and cognitive impairments are among the prominent symptoms associated with BBS. Unfortunately, there is currently no cure for this condition, and treatment focuses on addressing individual symptoms. However, a recent study has discovered some promising options to manage the metabolic challenges induced by the syndrome.
Typically, abnormal weight gain linked to BBS begins in childhood and can persist throughout an individual’s life. This can lead to additional complications such as type 2 diabetes, high blood pressure, and high cholesterol.
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Researchers have found that GLP-1 drugs, commonly used to treat type-2 diabetes and obesity, showed promising results when tested in mice with BBS. According to the study’s first author, Arashdeep Singh, PhD, these findings indicate that GLP-1-based therapies effectively target gut and brain pathways associated with feeding and metabolism, even in the context of a complex genetic disorder like BBS. This presents a much-needed treatment option for an underserved population.
However, real-world access to these medications may still be distant due to the early stage of the research process, as acknowledged by the Monell Chemical Senses Center study. Additionally, symptoms of the condition can vary among patients, even within the same family, as BBS arises from a faulty recessive gene.
Some common signs of BBS include polydactyly (the presence of extra fingers or toes), intellectual disabilities, vision loss, kidney abnormalities, and genital abnormalities that may lead to infertility.
Early diagnosis and treatment can significantly impact how individuals live with BBS. With interventions such as physiotherapy, speech therapy, and special education, many adults with BBS can achieve a high degree of independence.
With approximately 560 individuals in the UK currently diagnosed with BBS, the rarity of the condition and the diverse presentation of symptoms often result in delayed diagnosis and treatment.