معرفی
Jia Di Wen, MD, PhD, FACMG is an Assistant Professor in the Department of Genetics and Assistant Director of the Clinical Cytogenetics Laboratory at Yale School of Medicine. She holds dual appointments in the Genetics department and collaborates extensively with researchers in reproductive medicine and genomic diagnostics.
Education: MD from Capital Medical University (1993), PhD in Reproductive and Developmental Sciences from University of British Columbia (2010).
Research focuses on cytogenetic and genomic mechanisms underlying pregnancy loss, chromosomal abnormalities, and genetic disorders. Her work emphasizes translational applications in prenatal diagnosis, including microarray analysis of products of conception, exome sequencing for fetal anomalies, and characterization of ring chromosomes in congenital disorders. Key areas include genomic instability in tumors, haploinsufficiency syndromes, and validation of diagnostic platforms like OncoScan and oligonucleotide arrays.
Key contributions include meta-analyses of pregnancy loss etiologies, genotype-phenotype correlations in chromosomal deletions, and improving diagnostic accuracy through homozygosity mapping. Her clinical role supports both prenatal and pediatric genetic testing, integrating advanced cytogenomic techniques into patient care.
Laboratory activities involve the Clinical Cytogenetics Lab, focusing on diagnostic applications of genomic technologies. Active collaborations exist with investigators like Dr. Peining Li, Allen Bale, and Yong-Hui Jiang in genetic disease mechanisms and clinical diagnostics.