Navigating SLOS and CTX: From Clinical Clues to Targeted Therapies (This activity is supported by Mirum Pharmaceuticals)
19 Mar 2025
Meeting Room:
Gold Ballroom 3
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.
This session will focus on two rare cholesterol metabolism disorders: Smith-Lemli-Opitz Syndrome (SLOS) and Cerebrotendinous Xanthomatosis (CTX). A series of case-based presentations will enhance disease awareness, improve early diagnosis, and highlight targeted treatments. Faculty speakers will present real patient cases, emphasizing the varied clinical presentations, diagnostic challenges, and treatment outcomes.
Faculty:
Joseph W. Ray, MD, University of Texas Medical Branch
Andrea E. DeBarber, PhD, Oregon Health & Science University
P. Barton Duell, MD , Oregon Health & Science University
Paul Hillman, MD, PhD, FACMG, University of Texas Health, Houston
Pre-registration is required.
For more information and to register
This session will focus on two rare cholesterol metabolism disorders: Smith-Lemli-Opitz Syndrome (SLOS) and Cerebrotendinous Xanthomatosis (CTX). A series of case-based presentations will enhance disease awareness, improve early diagnosis, and highlight targeted treatments. Faculty speakers will present real patient cases, emphasizing the varied clinical presentations, diagnostic challenges, and treatment outcomes.
Faculty:
Joseph W. Ray, MD, University of Texas Medical Branch
Andrea E. DeBarber, PhD, Oregon Health & Science University
P. Barton Duell, MD , Oregon Health & Science University
Paul Hillman, MD, PhD, FACMG, University of Texas Health, Houston
Pre-registration is required.
For more information and to register
Learning Objectives
- Recognize the clinical manifestations and varied presentation of SLOS and CTX, and appreciate the importance of early diagnosis in improving clinical outcomes for affected individuals
- Provide necessary education to detect and diagnose individuals with SLOS and CTX based on clinical symptoms, biochemical testing, and genetic testing
- Understand the mechanism of action and potential clinical benefits of targeted treatment options available for these disorders
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