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Congratulations to
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 Sunney Xie1st Quarterly Meeting of the NEFS

The Future of Pre-implantation Genetic Testing - Accurate and Non-invasive"

Professor Xiaoliang Xie, PhD
 Harvard University, Boston, MA

                    Thursday, March 1, 2018
                           Marriott, Newton, MA
                       SCROLL DOWN TO RSVP↓

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 



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:

  1. Accuracy of single-cell whole genome amplification is critical for precise embryo diagnose and selection.

  2. Advances in single-cell whole genome amplification and next generation sequencing make possible to detect one mutated base among the six billion bases of the human genome to avoid monogenic diseases.  
  3. Non-invasive tests with improved WGA are adaptable for routine use in a clinical molecular diagnostic lab without requiring specialized equipment or complex experimental procedures.


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