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RIKEN Center for Brain Science Biomedical Neural Dynamics Collaboration Laboratory

Team Leader: Hirofumi Nakatomi (M.D., Ph.D.)

Research Summary

Hirofumi Nakatomi (M.D., Ph.D.)

Genetic analysis of neurosurgical diseases
The neural dynamic medical collaboration laboratory is distinguished by the fact that the team leader, Dr. Nakatomi, is a front-line neurosurgeon and has performed more than 3,000 neurosurgical operations to date. In cases of cerebrovascular disease and intractable epilepsy where such neurosurgery is essential for treatment, tissue (vascular and brain tissue) is obtained that is removed for treatment during surgery. By combining these samples with blood samples, it is possible to analyze somatic mutations, which are important for the initiation and development of the disease. The goal of our laboratory is to elucidate the susceptibility genes and modifier genes of these diseases to elucidate their pathogenesis. Our ultimate vision is to build a precision medicine system for each disease by investigating the genome information.

Main Research Fields

  • Medicine, Dentistry & Pharmacy

Related Research Fields

  • Biological Sciences
  • Neurosurgery

Keywords

  • Cerebral aneurysms
  • Subarachnoid hemorrhage
  • Saccular aneurysms
  • Fusiform aneurysms
  • Somatic mutation

Selected Publications

  • 1. Shima Y*, Sasagawa S*, Ohta N*(equal contribution), Oyama R, Sogawa C, Kim Y, Sakashita-Kubota M, Kawakami H, Naemura K, Takubo N, Kobayashi M, Ozeki A, Nakaki R, Tanaka M, Kamatani Y, Matsuda K, Kurihara H, Furihata T, Takahashi S, Rikitake Y, Kozaki K, Nakafuku M, Mataga N, Ohtsuka N, Akimitsu N, Wada Y, Kamiguchi H, Okabe S, Kato T, Nakagawa H, Saito N, and Nakatomi H.
    "Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms."
    Sci Transl Med. 2023 Jun 14;15(700):eabq7721. doi: 10.1126/scitranslmed.abq7721. Epub 2023 Jun 14. PMID: 37315111.
  • 2. *Hongo H, Miyawaki S, Teranishi Y, Ishigami D, Ohara K, Sakai Y, Shimada D, Umekawa M, Koizumi S, Ono H, Nakatomi H, Saito N.
    "Genetics of brain arteriovenous malformations and cerebral cavernous malformations."
    J Hum Genet. 2023 Mar;68(3):157-167. doi: 10.1038/s10038-022-01063-8. Epub 2022 Jul 13. PMID: 35831630.
  • 3. *Teranishi Y, Miyawaki S, Hongo H, Dofuku S, Okano A, Takayanagi S, Ota T, Yoshimura J, Qu W, Mitsui J, Nakatomi H, Morishita S, Tsuji S, Saito N.
    "Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2."
    J Med Genet. 2021 Oct;58(10):701-711. doi: 10.1136/jmedgenet-2020-106973. Epub 2020 Oct 16.PMID: 33067351
  • 4. *Hongo H, Miyawaki S, Teranishi Y, Mitsui J, Katoh H, Komura D, Tsubota K, Matsukawa T, Watanabe M, Kurita M, Yoshimura J, Dofuku S, Ohara K, Ishigami D, Okano A, Kato M, Hakuno F, Takahashi A, Kunita A, Ishiura H, Shin M, Nakatomi H, Nagao T, Goto H, Takahashi SI, Ushiku T, Ishikawa S, Okazaki M, Morishita S, Tsuji S, Saito N.
    "Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations."
    Angiogenesis. 2022 Jul 29. doi: 10.1007/s10456-022-09846-5. Online ahead of print. PMID: 35902510
  • 5. *Dofuku S, Sonehara K, Miyawaki S, Sakaue S, Imai H, Shimizu M, Hongo H, Shinya Y, Ohara K, Teranishi Y, Okano A, Ono H, Nakatomi H, Teraoka A, Yamamoto K, Maeda Y, Nii T, Kishikawa T, Suzuki K, Hirata J, Takahashi M, Matsuda K, Kumanogoh A, Matsuda F, Okada Y, Saito N.
    "Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study."
    Transl Stroke Res. 2022 Jun 14. doi: 10.1007/s12975-022-01049-w. Online ahead of print. PMID: 35701560
  • 6. *Ishigami D, Miyawaki S, Imai H, Shimizu M, Hongo H, Dofuku S, Ohara K, Teranishi Y, Shimada D, Koizumi S, Ono H, Hirano Y, Segawa M, Nakatomi H, Saito N.
    "RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events."
    Transl Stroke Res. 2022 Jun;13(3):410-419. doi: 10.1007/s12975-021-00956-8. Epub 2021 Oct 30.PMID: 34716882
  • 7. *Sakai Y, Miyawaki S, Teranishi Y, Okano A, Ohara K, Hongo H, Ishigami D, Shimada D, Mitsui J, Nakatomi H, Saito N.
    "NF2 Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing Meningiomas."
    Cancers (Basel). 2022 Jun 29;14(13):3183. doi: 10.3390/cancers14133183. PMID: 35804955
  • 8. *Okano A, Miyawaki S, Teranishi Y, Ohara K, Hongo H, Sakai Y, Ishigami D, Nakatomi H, Saito N.
    "Advances in Molecular Biological and Translational Studies in World Health Organization Grades 2 and 3 Meningiomas: A Literature Review."
    Neurol Med Chir (Tokyo). 2022 Aug 15;62(8):347-360. doi: 10.2176/jns-nmc.2022-0114. Epub 2022 Jul 22.PMID: 35871574
  • 9. *Ishigami D, Miyawaki S, Imai H, Shimizu M, Hongo H, Dofuku S, Ohara K, Teranishi Y, Shimada D, Koizumi S, Ono H, Hirano Y, Segawa M, Nakatomi H, Saito N.Saito N. "Correction to: RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events."
    Transl Stroke Res. 2022 Aug;13(4):652. doi: 10.1007/s12975-021-00971-9. PMID: 34826044
  • 10. *Teranishi Y, Miyawaki S, Nakatomi H, Ohara K, Hongo H, Dofuku S, Okano A, Takayanagi S, Ota T, Yoshimura J, Qu W, Mitsui J, Morishita S, Tsuji S, Saito N.
    "Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing."
    Sci Rep. 2022 Jun 9;12(1):9543. doi: 10.1038/s41598-022-13580-9. PMID: 35681071

Recent Research Results

Lab Members

Principal investigator

Hirofumi Nakatomi
Team Leader

Contact Information

Brain Science Central Building S701・702
2-1 Hirosawa, Wako, Saitama,
351-0198, Japan
Tel: +81-(0)48-467-9266
Fax: +81-(0)48-467-9267
Email: hirofumi.nakatomi [at] riken.jp

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