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basic / basichematologic oncology

Jun J. Yang

杨军

PhD

🏢St. Jude Children's Research Hospital(圣裘德儿童研究医院)🌐USA

Member, Department of Pharmaceutical Sciences; Associate Member, Department of Oncology药学系研究员;肿瘤科副研究员

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Key Papers
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Awards
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Key Contributions

👥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.

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🧪Research Fields 研究领域

ALL PharmacogenomicsALL药物基因组学
Germline Predisposition ALL胚系易感性ALL
Thiopurine Pharmacology巯嘌呤药理学
Down Syndrome ALL唐氏综合征ALL
Treatment Toxicity治疗毒性研究

🎓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

[1]

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.

[2]

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

🏆American Society of Clinical Pharmacology and Therapeutics Young Investigator Award
🏆St. Jude Faculty Scholar Award
🏆PhRMA Foundation Research Starter Award in Pharmacogenomics

📄Data Sources 数据来源

Last updated: 2026-01-15 | All information from publicly available academic sources

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