Clinical Diagnosis of a Genetic Disease - What's Unseen? (This activity is supported by Rhythm Pharmaceuticals, Inc)
18 Mar 2025
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Bardet-Beidl Syndrome (BBS) is a rare genetic condition involving Melanocortin-4-Receptor (MC4R) Pathway impairment. It is a syndromic disease impacting multiple organs with clinical manifestations that progress with age. Genetic testing results are difficult to intnerpret as there are more than 28 genes discovered over last 25 years. We will explore how to diagnose BBS clinically and role genetics play in the diagnosis.
Pre-registration is required.
For more information and to register
Bardet-Beidl Syndrome (BBS) is a rare genetic condition involving Melanocortin-4-Receptor (MC4R) Pathway impairment. It is a syndromic disease impacting multiple organs with clinical manifestations that progress with age. Genetic testing results are difficult to intnerpret as there are more than 28 genes discovered over last 25 years. We will explore how to diagnose BBS clinically and role genetics play in the diagnosis.
Pre-registration is required.
For more information and to register
Learning Objectives
- Explore genetics underlying BBS, a genetic syndromic condition
- Learn the role of genetics in diagnosing BBS
- Learn to diagnose BBS taking into consideration whole patient presentation