KODAI KUME
Last Updated :2025/03/04
- Affiliations, Positions
- Hiroshima University
- Web Site
- E-mail
- kumek
hiroshima-u.ac.jp
Basic Information
Major Professional Backgrounds
- 2020/04, 2021/03, Kagawa University, Faculty of Medicine
- 2019/04, 2020/03, Hiroshima University, Research Institute for Radiation Biology and Medicine
- 2018/04, 2019/03, Hiroshima University, Research Institute for Radiation Biology and Medicine
- 2014/06, 2018/03, Kagawa University, Faculty of Medicine
- 2010/04, 2014/05, Kagawa University, Faculty of Medicine
- 2008/04, 2010/03, Kagawa University, University Hospital, Faculty of Medicine
Educational Backgrounds
- Kagawa University, Japan, 2012/04, 2017/06
- Kagawa University, Japan, 2002/04, 2008/03
Academic Degrees
Research Fields
- Medicine,dentistry, and pharmacy;Clinical internal medicine;Neurology
- Biological Sciences;Genome science;Medical genome science
Research Keywords
- Long-read sequencer
- Genetics
- Next generation sequencer
- Neurodegenerative disease
Affiliated Academic Societies
- Society for Neuroscience
- American Society of Human Genetics
- The Japanese Society for Genome Editting
- Japanese Society of Neurology
- The Japanese Society of Human Genetics
- Japanese Society for Bioinformatics
- The Japan Neuroscience Society
- The Japanese Society for Neurochemistry
- THE JAPANESE SOCIETY OF NEUROPATHOLOGY
- THE JAPANESE SOCIETY OF INTERNAL MEDICINE
Educational Activity
Course in Charge
- 2024, Undergraduate Education, Intensive, Practice for medical research
- 2024, Graduate Education (Master's Program) , First Semester, Seminar
- 2024, Graduate Education (Master's Program) , Second Semester, Seminar
- 2024, Graduate Education (Master's Program) , First Semester, Research
- 2024, Graduate Education (Master's Program) , Second Semester, Research
- 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar
- 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar
- 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Research
- 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Research
- 2024, Graduate Education (Doctoral Program) , 1Term, Methods in Biomedical Sciences B
- 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Molecular Epidemiology
- 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Molecular Epidemiology
- 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Molecular Epidemiology
- 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Molecular Epidemiology
- 2024, Graduate Education (Master's Program) , OutOfTerm(1st), Basic Training of Genome Editing
- 2024, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science
Research Activities
Academic Papers
- C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan, JOURNAL OF THE NEUROLOGICAL SCIENCES, 466, 20241115
- An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 82(8), 734-738, 20230720
- 'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy, BRAIN COMMUNICATIONS, 5(6), 20231101
- Raisin bread sign feature of pontine autosomal dominant microangiopathy and leukoencephalopathy, Brain Communications, 20231022
- ★, CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, The American Journal of Human Genetics, 20230706
- Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 10(1), 20221207
- Comparison of two families with and without ataxia harboring novel variants in PRKCG, JOURNAL OF HUMAN GENETICS, 67(10), 595-599, 202210
- Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis, Journal of the Neurological Sciences, 430, 119984, 20211115
- Premedication of hemin for eradication therapy of Helicobacter pylori in patients with porphyria., Clinical case reports, 9(2), 944-946, 202102
- The first Japanese case of primary familial brain calcification caused by an MYORG variant., Journal of human genetics, 65(10), 917-920, 202010
- Aggressive periodontitis and NOD2 variants., Journal of human genetics, 65(10), 841-846, 202010
- Optineurin regulates osteoblastogenesis through STAT1., Biochemical and biophysical research communications, 525(4), 889-894, 20200514
- Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia., Journal of human genetics, 65(4), 363-369, 202004
- Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report., BMC medical genetics, 21(1), 68-68, 20200331
- Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia., Neurology. Genetics, 6(1), e396, 202002
- Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation., Journal of neurology, neurosurgery, and psychiatry, 91(2), 220-222, 202002
- Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report, BMC Neurology, 19(1), 168, 201912
- C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8., Journal of the neurological sciences, 402, 118-120, 20190715
- Three cases of non-carryover fingolimod-PML: Is the risk in Japan increased?, Neurology(R) neuroimmunology & neuroinflammation, 6(3), e559, 201905
- Clinical significance of assaying anti-MOG antibody in cerebrospinal fluid in MOG-antibody-associated diseases: A case report., Multiple sclerosis and related disorders, 28, 165-166, 201902
- Subacute Sensorimotor Neuropathy Accompanied by Anti-ganglioside GM1 Antibody in a Patient with Lung Cancer., Internal medicine (Tokyo, Japan), 57(22), 3289-3292, 201811
- Serum microRNA expression profiling in patients with multiple system atrophy., Molecular medicine reports, 17(1), 852-860, 201801
- Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction., Internal medicine (Tokyo, Japan), 56(6), 713-717, 2017
- Dialysis-induced Subdural Hematoma in an Arachnoid Cyst Associated with Autosomal Dominant Polycystic Kidney Disease., Internal medicine (Tokyo, Japan), 55(15), 2065-7, 2016
- Neuromyelitis optica spectrum disorder presenting with repeated hypersomnia due to involvement of the hypothalamus and hypothalamus-amygdala linkage., Multiple sclerosis (Houndmills, Basingstoke, England), 21(7), 960-2, 201506
- Significance of the hot-cross bun sign on T2*-weighted MRI for the diagnosis of multiple system atrophy., Journal of neurology, 262(6), 1433-9, 201506
- Unilateral mydriatic tonic pupil as an early isolated symptom of neurosyphilis., Journal of the neurological sciences, 344(1-2), 219-20, 20140915
- Usefulness of the modified F-ratio for assessments of proximal conduction in chronic inflammatory demyelinating polyneuropathy superimposed on Charcot Marie-Tooth disease type 1A., Journal of the neurological sciences, 343(1-2), 237-9, 20140815
- Advantage of C-11-methionine positron emission tomography for assessing IgG4-related central nervous system lesions, JOURNAL OF NEUROLOGY, 261(3), 625-627, 201403
- [Successful treatment of HIV-associated chronic inflammatory demyelinating polyneuropathy by early initiation of highly active anti-retroviral therapy]., Rinsho shinkeigaku = Clinical neurology, 53(5), 362-6, 2013
- Transcranial magnetic stimulation with the maximum voluntary muscle contraction facilitates motor neuron excitability and muscle force., Neurology research international, 2012, 847634-847634, 2012
- Nitric oxide-mediated modulation of calcium/calmodulin-dependent protein kinase II., The Biochemical journal, 412(2), 223-31, 20080601
- p90 RSK-1 associates with and inhibits neuronal nitric oxide synthase., The Biochemical journal, 401(2), 391-8, 20070115
- Inhibition of neuronal nitric-oxide synthase by phosphorylation at Threonine1296 in NG108-15 neuronal cells., FEBS letters, 579(25), 5658-62, 20051024
- FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report, BMC NEUROLOGY, 21(1), 20211012
- Analysis of genetic risk factors in Japanese patients with Parkinson's disease., Journal of human genetics, 20210319
- Porencephaly causing limb size asymmetry., Acta neurologica Belgica, 20210316
- Premedication of hemin for eradication therapy of Helicobacter pylori in patients with porphyria., Clinical case reports, 9(2), 944-946, 202102
Invited Lecture, Oral Presentation, Poster Presentation
- The p.T1163M variant in TTBK2 causes ciliary dysfunction, ASHG 2024 Annual Meeting, 2024/11/06, Without Invitation, English
- CGG repeat expansion in LRP12 in Amyotrophic lateral sclerosis, Without Invitation, English
- CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, 68th Annual Meeting of the Japan Society of Human Genetics/Human Genetics Asia 2023, 2023/10/12, Without Invitation, English
- CGG repeat expansion in LRP12 causes amyotrophic lateral sclerosis, The 64th Annual Meeting of the Japanese Neuropathology / The 66th Annual Meeting of the Japanese Neurochemistry, 2023/07/06, Without Invitation, Japanese
- Genetic screening of FLNA variants in progressive supranuclear palsy, 2022/12/14, Without Invitation, English
- The variant in FLNA identified in a patient with progressive supranuclear palsy, American Society of Human Genetics Annual Meeting 2022, 2022/10/25, Without Invitation, English
- C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8., NEURO2019, 2019/07/25, Without Invitation, English
- Middle-age-onset cerebellar ataxia caused by homozygous TWNK mutation., The 64th Annual Meeting of the Japan Society of Human Genetics, 2019/11/06, Without Invitation, English
External Funds
Acceptance Results of Competitive Funds
- 2022, 2023
- Research grant, Development of a novel therapy using DNA methylation for repeat diseases
- Research incentive grants in 2021
- Grants-in-Aid for Scientific Research Grant-in-Aid for Early-Career Scientists, 2020/04/01, 2022/03/31
Social Activities
History as Peer Reviews of Academic Papers
- 2023, Annals of Clinical and Translational Neurology, Others
- 2021, Experimental and Therapeutic Medicine, Others
- 2021, Molecular Medicine Reports, Others
- 2020, BMC Neurology, Others
- 2021, Brain and Development, Others