Join us as we talk with experts in rare disease research, clinical practice, and WGS technology about how it is bringing disease diagnostics and treatment to life:
- David Dimmock
Senior Medical Director at Rady Children’s Institute of Genomic Medicine - Alan Beggs
Director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital
Sir Edwin and Lady Manton Professor of Pediatrics at Harvard Medical School - Christine Stanley
Chief Director of Clinical Genomics at Variantyx - Take Ogawa
Chief Commercial Officer at Psomagen
This content was produced in association with Biotechniques, Variantyx, Rady Children’s Institute of Genomic Medicine, and Harvard Medical School.
Contents
- Introduction: 00:00-02:30
- Defining the diagnostic odyssey: 02:30-06:20
- Rare disease discovery: 06:20-09:20
- Techniques involved in rare disease discovery: 09:20-12:05
- Whole-genome sequencing updates impacting clinical diagnosis: 12:05-18:30
- Currently required improvements in techniques for rare disease research and management: 18:30-24:10
- Explaining long-read and short-read sequencing: 24:10-26:00
- Developing therapeutics for rare diseases: 26:00-30:00
- Whole-genome sequencing in animal model validation: 30:00-31:20
- Improving access to whole-genome sequencing available to researchers and clinicians: 31:20-33:40
- How whole-genome sequencing is improving the management and outcomes for rare diseases: 33:40-38:27
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📊 INFOGRAPHIC
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📊 INFOGRAPHIC
