Anne-Paule Gimenez-Roqueplo
安-波尔·希梅内斯-罗克普洛
MD, PhD
Professor of Genetics and Head of Molecular Genetics Laboratory遗传学教授兼分子遗传学实验室主任
👥Biography 个人简介
Anne-Paule Gimenez-Roqueplo is a world leader in the genetics of pheochromocytoma and paraganglioma, having co-discovered SDHD and SDHB as hereditary paraganglioma susceptibility genes. She heads the French national PPGL network PGL.NET and co-chairs the international Genomics and Epigenomics of PPGL consortium.
🧪Research Fields 研究领域
🎓Key Contributions 主要贡献
SDH Gene Discovery
Co-discovered SDHD and SDHB germline mutations as causes of hereditary paraganglioma, establishing the role of mitochondrial complex II dysfunction in neuroendocrine tumorigenesis.
PPGL Genomics Consortium
Co-led international genomic studies defining the complete mutational landscape of PPGL, identifying novel susceptibility genes including TMEM127, MAX, and FH.
PGL.NET National Network
Founded and coordinates the French national PPGL registry PGL.NET, enabling systematic genotype-phenotype studies and standardized patient care across France.
Representative Works 代表性著作
Mutations in the SDHB Gene Are Associated with Extra-Adrenal and/or Malignant Phaeochromocytomas
Cancer Research (2003)
Established SDHB mutation as a key predictor of malignancy and extra-adrenal location in paraganglioma, transforming risk stratification.
Integrated Genomic Characterization of Pheochromocytoma and Paraganglioma
Nature Genetics (2017)
Large-scale multi-omic TCGA analysis defining molecular clusters and driver alterations across the full PPGL spectrum.
SDHB Gene as a Major Contributor to the Malignant Phenotype in Paraganglioma
Journal of Clinical Endocrinology & Metabolism (2006)
Demonstrated SDHB as the dominant genetic risk factor for metastatic paraganglioma, guiding surveillance intensity decisions.
🏆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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