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The Genetics of Bardet-Biedl Syndrome

AmbitCare

April 10, 2024

The Genetics of Bardet-Biedl Syndrome

What is Bardet-Biedl Syndrome?

BBS syndrome, or Bardet-Biedl syndrome, is a condition that affects the cilia, which are small cellular structures that help all cells in the body function and develop. Some of the most common symptoms of BBS include visual impairments, hard-to-control hunger and obesity, extra digits on the fingers or toes, kidney problems, and learning difficulties.

The Genetics of Bardet-Biedl Syndrome: A Closer Look at BBS Genes

Bardet-Biedl syndrome (BBS) is a genetic disorder with a complex inheritance pattern. This blog post explores Bardet Biedl genetics, gene variants, and the role of genetic testing.

Bardet-Biedl syndrome, commonly referred to as BBS, is a rare genetic disorder recognized for its wide variety of symptoms and the complexity of its genetics. Understanding the Bardet-Biedl genes, family history, and clinical signs and symptoms are all important for the diagnosis of BBS.

Bardet-Biedl Genetic Testing

Genetic testing can support the diagnosis of Bardet-Biedl syndrome. A Bardet-Biedl gene panel can identify variants in any of the 20+ genes currently associated with the syndrome. These genes, known as BBS genes, play a role in the structure and function of cilia.

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Understanding Bardet-Biedl Genetics

BBS can be passed from parent to child if both parents have variants or changes in one of the BBS genes.

Bardet-Biedl Syndrome Gene Variant

The gene variants (or changes) causing Bardet-Biedl syndrome affect how the cilia function. Since cilia are present in many types of cells, this leads to the wide variety of symptoms associated with BBS like problems with sight, hard-to-control hunger and obesity, and kidney issues. The BBS gene variants can be diverse, which is why a Bardet-Biedl gene panel that tests for many genes is helpful for diagnosis.

Conclusion:

Bardet-Biedl syndrome is a genetically complex disorder with a variety of symptoms. Doctors can diagnose BBS without genetic testing; however, Bardet-Biedl genetic testing, including the use of a gene panel, helps doctors confirm the diagnosis of BBS.

For families affected by BBS, genetic counseling and testing are recommended steps to understanding their condition and making informed health decisions.

This blog post was developed by Ambit on behalf of Rhythm Pharmaceuticals, Inc.

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You are not alone. A community and a treatment for obesity in individuals living with BBS are out there – find out more today.

The majority of individuals living with BBS experience intense, hard-to-control hunger contributing to obesity. There is an approved treatment that significantly reduced measures of weight and hunger in clinical trials in people living with BBS. Take the questionnaire to connect to educational resources.

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Disclaimer

Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.