View Only- Expanding the Etiology of Holoprosencephaly with Next Generation Sequencing-National Human Genome Research Institute MP4

Video Transcription

Video Summary

The video transcript summarizes a presentation on research conducted on holoprosencephaly, a genetic disorder that affects the development of the forebrain. The speaker discusses their personal connection to holoprosencephaly and the two main questions families affected by the disorder have: why their child has holoprosencephaly and if future children will be affected. The speaker outlines the outline of the presentation, which includes an introduction to holoprosencephaly, a case report, genetic counseling, preliminary data from exome sequencing, and plans for future research. The speaker presents findings on genetic variants associated with holoprosencephaly, including variants in the CNOT1, cohesin complex, KMT2D, and PPP1R12A genes. The speaker also discusses the importance of copy number variant detection and the limitations of exome sequencing in this regard. The presentation concludes with a discussion of the challenges and benefits of whole genome sequencing in understanding holoprosencephaly. The speaker acknowledges the Carter Center for Brain Research and Holoprosencephaly, Families for HOPE, and the NIH Intramural Sequencing Center. The presentation ends with an invitation to a future case conference and the 2020 Annual Meeting. The speaker confirms that the presentation is being recorded and will be available for viewing on the ACMG Genetics Academy.

Keywords

holoprosencephaly

genetic disorder

forebrain development

family questions

genetic variants

exome sequencing

copy number variant detection

whole genome sequencing

Carter Center for Brain Research