Jun J. Yang
杨军
PhD
Member, Department of Pharmaceutical Sciences; Associate Member, Department of Oncology药学系研究员;肿瘤科副研究员
👥Biography 个人简介
Jun J. Yang, PhD is a Member of the Department of Pharmaceutical Sciences and Associate Member of the Department of Oncology at St. Jude Children's Research Hospital. He is an internationally recognized leader in the pharmacogenomics of ALL therapy and germline genetics of leukemia predisposition, with his research bridging fundamental pharmacology with direct clinical application in childhood ALL. Dr. Yang's laboratory has extensively characterized inter-individual variation in thiopurine metabolism (6-mercaptopurine, thioguanine), the cornerstone drugs in ALL maintenance therapy, identifying genetic variants (TPMT, NUDT15) that predict drug toxicity and require dose adjustment in diverse patient populations. His discovery that NUDT15 variants are a major determinant of thiopurine toxicity in East Asian and Hispanic patients — populations in whom TPMT-based dosing fails — has been immediately translated into clinical practice and updated ALL treatment guidelines worldwide. Dr. Yang has also been a pioneer in studying germline genetic predisposition to ALL, identifying inherited variants in genes including IKZF1, ARID5B, CEBPE, and TP53 that explain a significant proportion of ALL risk across ethnic groups. His work on the genomics of Down syndrome ALL has defined the molecular basis for the hypersensitivity to methotrexate and other agents observed in this population, directly informing treatment modifications that have improved outcomes.
🧪Research Fields 研究领域
🎓Key Contributions 主要贡献
NUDT15 Pharmacogenomics: Thiopurine Toxicity in Diverse Populations
Discovered that inherited variants in NUDT15 are the primary genetic determinant of thiopurine (6-MP) toxicity in East Asian and Hispanic patients with ALL — populations not adequately covered by TPMT-based dosing algorithms — leading to immediate incorporation of NUDT15 testing into clinical pharmacogenomics guidelines and ALL treatment protocols globally.
Germline Predisposition to Childhood ALL
Led genome-wide association studies and candidate gene studies identifying germline variants in IKZF1, ARID5B, CEBPE, CDKN2A, and other loci that confer risk for childhood ALL across diverse ethnic populations, providing insights into leukemia etiology and ethnic disparities in ALL incidence.
Pharmacogenomics of Down Syndrome ALL
Characterized the molecular basis for enhanced methotrexate sensitivity in Down syndrome ALL, identifying overexpression of chromosome 21-encoded genes including HMGN1 and CBS as contributors to pharmacokinetic differences, and providing a biological framework for the treatment modifications observed to improve outcomes in DS-ALL.
Representative Works 代表性著作
Inherited NUDT15 Variant Is a Genetic Determinant of Mercaptopurine Intolerance in Children with Acute Lymphoblastic Leukemia
Journal of Clinical Oncology (2015)
Discovery paper identifying NUDT15 as the primary pharmacogenomic determinant of thiopurine toxicity in East Asian ALL patients.
Genome-Wide Interrogation of Germline Genetic Variation Associated with Treatment Response in Childhood Acute Lymphoblastic Leukemia
JAMA (2009)
GWAS study identifying germline variants associated with treatment response and toxicity in pediatric ALL.
🏆Awards & Recognition 奖项与荣誉
📄Data Sources 数据来源
Last updated: 2026-01-15 | All information from publicly available academic sources
Related Experts 相关专家
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University of California San Diego, Ludwig Cancer Research
Cigall Kadoch
Dana-Farber Cancer Institute / Broad Institute of MIT and Harvard
Luciano Di Croce
Centre for Genomic Regulation (CRG), Barcelona
Alexander Meissner
Max Planck Institute for Molecular Genetics, Berlin
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