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Selwyn Oskowitz, MD
founder of the NEFS, who is this year's recipient of the
Arnold P. Gold Foundation Humanism in Medicine Award presented at ASRM in Salt Lake City, October 2016!
Professor Xiaoliang Xie, PhD
Harvard University, Boston, MA
Thursday, March 1, 2018
Marriott, Newton, MA
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5:30 - 6:30 pm - Check-in and Social Reception
6:30 - 7:30 pm - Dinner
7:30 - 9:00 pm - Opening Remarks, Presentation, Open Discussion
DESCRIPTION AND LEARNING OBJECTIVES:
Single-cell whole-genome amplification is critical for Assisted Reproductive Technology. However, current whole-genome amplification (WGA) methods are limited by low accuracy of copy-number variation (CNV) detection and low amplification fidelity. We developed MALBAC and LIANTI, two WGA methods that offer the highest precision for single cell genome sequencing by virtue of quasi linear and linear amplification, respectively, as opposed to exponential amplification as is in PCR. Using these WGA methods we have developed MARSALA, NICS and MaReCs, which have allowed to select fertilized eggs free of chromosome abnormalities and devastating point mutations. To date, more than 300 couples have successfully avoided passing their genetic diseases on to their newborns using these methods. Methods and applications will be discussed.
At the end of this program, the participant should be able to:
Accuracy of single-cell whole genome amplification is critical for precise embryo diagnose and selection.