Session Description
This session highlights the 2019 advances made in the genetic etiology of holoprosencephaly using exome sequencing. We begin with a brief review of the clinical aspects of holoprosencephaly and then work through a case study where exome sequencing resulted in a genetic etiology in a gene not previously associated with human disease. Next, we describe the results for exome sequencing for a cohort of 322 individuals affected with holoprosencephaly and the translational value of these results. Finally, we make a case for applying genome sequencing to our cohort, which is currently underway.
Learning Objectives
At the conclusion of the series, participants should be able to:
Session Learning Objectives
At the conclusion of this session, participants should be able to:
Faculty:
Paul Kruszka, MD, FACMG
Clinical Geneticist, Associate Research Physician, National Human Genome Research Institute
Donald Hadley, MS, CGC
Associate Director, Office of Clinical Liaison, Associate Investigator, Medical Genetics and Genomic Medicine Training Program, National Human Genome Research Institute
Educational Credits are not offered
Target Audience
Off-label Drug Use statement
When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.
Disclosures of Financial Relationships
Staff - American College of Medical Genetics and Genomics
The following have nothing to disclose.
Jane Radford, MHA, CHCP
Claudia Barnett
Maximilian Muenke, MD, FACMG
Presenter Disclosures
Has no relevant financial relationships to disclose.
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