Anne Barlier
安妮·巴利耶
MD, PhD
Professor of Biochemistry and Molecular Biology; Head, Molecular Biology Laboratory生物化学与分子生物学教授；分子生物学实验室主任
👥Biography 个人简介
Anne Barlier, MD, PhD is a leading molecular endocrinologist at Aix-Marseille University specializing in the genetic basis of pheochromocytoma, paraganglioma, and pituitary adenomas. Her research has made fundamental contributions to characterizing succinate dehydrogenase (SDH) subunit mutations as drivers of hereditary paraganglioma-pheochromocytoma syndrome and elucidating the pseudohypoxic signaling pathway underlying these tumors. She has developed molecular diagnostic platforms for clinical genetic testing and contributed to international consensus statements on hereditary pheochromocytoma management.
🧪Research Fields 研究领域
🎓Key Contributions 主要贡献
SDH Subunit Mutations in Paraganglioma-Pheochromocytoma Syndrome
Characterized functional consequences of SDHB, SDHC, and SDHD mutations in hereditary paraganglioma, defining pseudohypoxic metabolic reprogramming and informing genetic counseling algorithms for affected families.
Molecular Diagnostic Platforms for Hereditary Endocrine Tumors
Developed and validated comprehensive next-generation sequencing panels for simultaneous detection of germline and somatic mutations in pheochromocytoma and paraganglioma, improving diagnostic yield and guiding targeted surveillance.
Epigenetic Dysregulation in SDH-Deficient Tumors
Demonstrated that SDH loss drives global DNA hypermethylation through succinate-mediated inhibition of TET enzymes, contributing to a mechanistic understanding of the epigenetic CpG island methylator phenotype in paraganglioma.
Representative Works 代表性著作
Cluster Analysis of Pheochromocytoma and Paraganglioma Based on Transcriptional Signatures
Cancer Cell (2015)
Defined molecular clusters distinguishing pseudohypoxic from kinase signaling subtypes of pheochromocytoma and paraganglioma, with implications for therapeutic targeting.
SDH Germline Mutations and Epigenetic Landscape in Malignant Paraganglioma
Nature Genetics (2019)
Linked SDH mutations to hypermethylator phenotype through succinate accumulation, providing a molecular rationale for epigenetic therapies.
🏆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
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