Sijia LU (China)
Professional Summary
Dr. Sijia Lu is the co-inventor of MALBACTM (Multiple Annealing and Looping Based Amplification Cycles) technology and co-founder of Yikon Genomics Co., Ltd. With 11 international and 9 national patents, Dr. Lu has extensive experiences in the development and application of single-cell whole genome amplification (WGA) technology. Dr. Lu’s work has been published in many top-tier journals, including Science and Nature, and cited more than 2000 times world-wide. Under his leadership, Yikon Genomics has developed a series of unique technical platforms that have been successfully used for single-cell whole genome sequencing, preimplantation genetic screening, preimplantation genetic diagnosis, prenatal genetic testing and cancer diagnosis. Dr. Lu has received many national and international awards in recognition of his significant contribution to the field.
Education
Bachelor of Science, Department of Physics, Fudan University 2003-2007
Ph.D., Department of Chemistry and Chemical Biology, Harvard University 2007-2012
Selected Awards
"The one-thousand-talents scheme" Specially-invited Expert 2018
Member of Municipal People's Congress” 2018
The 11th Science and Technology Leaders in Suzhou Industrial Park 2017
6th “Jiangsu Province Youth Friendship Envoy” 2016
12th “The Six Talents Summit” High-level Professionals 2016
High-level Innovation and Entrepreneurship Talent Fellowship 2014
Core Member, High-level Innovation and Entrepreneurship Team Fellowship 2013
Jiangsu Province “113 Talents” Award 2013
Harvard Merit PhD Fellowship 2011
National Outstanding International Student Scholarship 2010
Membership
Member, National Biotechnology Professional Standardization Techniques Commission 2017-present
Member, China Youth Returnee Association 2015-present
Member, American Society of Reproductive Medicine 2014-present
Member, Genetics Society of America 2010-2012
Member, The Optical Society of America 2007-2010
Abstract
Cumulative Data on Advances in Preimplantation Genetic Diagnosis – MALBAC, MaReCs, NICS
PGT or Pre-implantation Genetic Test is an effective approach that can be implemented to improve clinical outcomes in IVF-ET and stop the passage of genetic abnormalities across generations. The test methods in PGT are constantly evolving over time, from PCR in the beginning to FISH and array later and to NGS commonly used nowadays.
WGA or whole genome amplification is a required step of NGS-based test method in PGT. The efficiency of WGA directly impacts the accuracy of PGT. MALBAC or Multiple Annealing and Looping-Based Amplification Cycles is a quasi-linear WGA technology. Comparing to other WGA techniques, MALBAC has better amplification uniformity and lower allele dropout rate and hence is more suitable for PGT. MALBAC, when coupled with NGS, has been widely used in PGT and accumulated data on tens of thousands of embryo samples
NICS or non-invasive chromosome screening is a PGT technique that does not require the IVF clinics to perform any embryo biopsies. Instead, the NICS test uses MALBAC WGA technology to amplify the free circulating DNA in the collected D5 blastocyst culture medium and can accurately screen for chromosomal aneuploidies as the NPV or negative predictive value of the NICS test is over 90%. The NICS test can be applied to patients with advanced maternal ages, recurrent miscarriages, repeated implantation failures, and other suitable indications in PGS and to patients with structural chromosomal aneuploidies and other suitable indications in PGD. Comparing to transferring embryos based on their morphological assessments, using NICS for embryo transfer has significantly improved the clinical outcomes.
Balanced translocation is a type of chromosomal abnormality commonly seen in population with infertility. Regular NGS-based PGD cannot distinguish normal embryos from embryos with balanced translocations. MaReCs or Mapping allele with Resolved Carrier State is a new test method in PGD and when used with CNV and SNP linkage analysis can distinguish normal embryos from embryos with balanced translocations. MaReCs can stop passing balanced translocations across generations. So far we have performed closed to 100 MaReCs tests for patients with balanced translocations, and dozens of healthy babies have been born without any balanced translocations.
胚胎植入前遗传学检测（PGT）是改善IVF-ET临床结局、阻断遗传学异常的有效手段。PGT的检测方法不断发展，从PCR到FISH、array，再到现在常用的NGS。
全基因组扩增（WGA）是基于NGS的PGT检测方法的必不可少的步骤，WGA的效果直接影响PGT检测的准确性。MALBAC 是一种近似线性扩增的WGA技术，与其他WGA技术相比，均一性更好，等位基因脱扣率（ADO rate）更低，适用于PGT检测。MALBAC结合NGS已经广泛应用于PGT检测，积累了数万例胚胎样本数据。
无创染色体筛查（NICS ）是一种无需胚胎活检的PGT技术，使用MALBAC扩增D5胚胎培养基中游离DNA，可以准确检测胚胎非整倍体，阴性预示值达到90%以上。NICS可以应用于女方高龄、反复流产、反复移植失败等PGS适应人群，也可以用于染色体结构异常等PGD适应人群。与形态学选择胚胎移植周期相比，临床结局显著改善。
平衡易位是不孕不育人群中常见的染色体异常类型，基于NGS的常规PGD无法区分正常胚胎和平衡易位胚胎。等位基因映射识别胚胎平衡易位携带状态（Mapping allele with Resolved Carrier State，MaReCs）是一种新的PGD方法，结合胚胎CNV和SNP连锁分析，可以区分正常和平衡易位胚胎，阻断平衡易位。至今，已有上百个平衡易位患者进行了MaReCs检测，并出生了几十个健康孩子。