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basic / basicRare Genetic Cancers & NF1

Guy A. Rouleau

盖伊·鲁洛

MD, PhD, FRSC

🏢McGill University / Montreal Neurological Institute(麦吉尔大学/蒙特利尔神经病学研究所)🌐Canada

Director, Montreal Neurological Institute; Professor and Chair, Department of Neurology and Neurosurgery蒙特利尔神经病学研究所所长;神经病学和神经外科系主任

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Prof. Rouleau is a world-renowned neurogenetics pioneer who co-discovered the NF2 tumor suppressor gene and the schwannomatosis susceptibility genes SMARCB1 and LZTR1. His laboratory at the Montreal Neurological Institute has profoundly shaped understanding of genetic predisposition to brain and nerve tumors.

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🧪Research Fields 研究领域

Neurofibromatosis Type 22型神经纤维瘤病
Schwannomatosis多发性神经鞘瘤病
NF2 Gene DiscoveryNF2基因发现
Neurogenetic Disease神经遗传病
Brain Tumor Predisposition Syndromes脑肿瘤遗传易感综合征
Rare Neurological Cancer Genetics罕见神经肿瘤遗传学

🎓Key Contributions 主要贡献

NF2 Gene Discovery

Co-discovered and characterized the NF2 tumor suppressor gene encoding merlin, establishing its role in schwannoma, meningioma, and ependymoma, and laying the molecular foundation for all subsequent NF2 therapeutic research.

Schwannomatosis Genetics

Identified SMARCB1 and LZTR1 as schwannomatosis susceptibility genes, delineating the genetic landscape of this rare syndrome and providing diagnostic tools for families with multiple non-NF2 schwannomas.

Representative Works 代表性著作

[1]

Mutations in the Neurofibromatosis Type 2 Gene Are Found in Sporadic Meningiomas

Nature Genetics (1994)

Demonstrated that NF2 gene mutations occur in sporadic meningiomas, establishing merlin as a broad tumor suppressor relevant beyond NF2 syndrome and expanding therapeutic targeting implications.

[2]

LZTR1 Mutations Are Responsible for the Most Common Inherited Form of Schwannomatosis

Nature Genetics (2014)

Identified LZTR1 as a major schwannomatosis gene, resolving genetic etiology in a large proportion of familial schwannomatosis cases and establishing a new tumor suppressor pathway.

🏆Awards & Recognition 奖项与荣誉

🏆Fellow of the Royal Society of Canada
🏆Killam Prize in Health Sciences
🏆Canadian Institutes of Health Research Top Researcher Award
🏆Children's Tumor Foundation Friedrich von Recklinghausen Award

📄Data Sources 数据来源

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

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