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Clinical Diagnosis of a Genetic Disease - What's Unseen? (This activity is supported by Rhythm Pharmaceuticals, Inc)

18 Mar 2025
ACMG offers industry and related organizations the opportunity to host non-commercial, grant-supported educational satellite sessions in conjunction with the meeting, enhancing the educational experience for attendees.  Corporate Educational Satellite Sessions are planned solely by corporations/industry, ACCME providers, medical education companies and/or non-profit organizations.  These sessions focus on highlighting new developments, generating interest in innovative products or services, and sharing the latest insights with meeting participants.  These activities are not part of the official ACMG meeting programming and are not accredited by ACMG.

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

  1. Explore genetics underlying BBS, a genetic syndromic condition
  2. Learn the role of genetics in diagnosing BBS
  3. Learn to diagnose BBS taking into consideration whole patient presentation

Agenda

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