Rchr
J-GLOBAL ID:202101011282141090
Update date: Apr. 29, 2024
Fujinami Kaoru
Fujinami Kaoru
Research field (5):
Animals: biochemistry, physiology, behavioral science
, Biodiversity and systematics
, Mathematical informatics
, Ophthalmology
, Genetics
Research keywords (8):
Artificial intelligence
, Visual physiology
, Human genome diversity
, Gene therapy
, Inherited retinal disease
, Clinical genetics
, Human genetics
, Ophthalmology
Research theme for competitive and other funds (23):
- 2021 - 2024 Retinitis pigmentosa GTPase regulator(RPGR)遺伝子の病的バリアントを原因とするX 連鎖性網膜色素変性を有する日本人患者の遺伝型及び表現型を推定するためのプロスペクティブ観察研究
- 2020 - 2023 先天性および若年発症の聴覚・視覚重複障害者の実態解明と社会的支援方法 の確立
- 2018 - 2022 人工知能を用いた眼科診療支援システムの構築. (Reference: H30-NHO(感覚器)-3
- 2017 - 2021 先天性および若年性の視覚聴覚二重障害に対する一体的診療体制に関する研究
- 2019 - 2020 重度視覚障害患者における包括的視機能評価法の構築
- 2016 - 2019 Establishment of an intercontinental cohort database for ABCA4-associated retinal disorder, aiming for clinical trial of treatment
- 2018 - 2019 重度視覚障害患者における包括的視機能評価法の構築
- 2017 - 2018 重度視覚障害患者における包括的視機能評価法の構築
- 2017 - 2018 Establishment of an intercontinental cohort database for ABCA4-associated retinal disorder in global eye genetic consortium, including 7 countries from Europe, America, and Asia(Fostering Joint International Research)
- 2014 - 2017 遺伝性網脈絡膜疾患の生体試料の収集・管理・提供と病態解明
- 2017 - UK-Japan Genomic Research of Inherited Eye Disease
- 2016 - Genotype-phenotype Correlation Study in a World-wide Cohort with ABCA4-associated Retinopathy in Preparation for Clinical Trials
- 2013 - 2015 Investigation of clinical and molecular genetic characteristics of inherited macular diseases for treatment approach
- 2015 - Molecular Modeling of Pathogenic Mutations in Nucleotide-binding Domains of ABCA4 Transporter Protein
- 2015 - A collaborative research of genotype-phenotype correlation in a large international cohort with inherited retinal disease: investigation of molecular modeling impact and clinical severity
- 2013 - The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) studies
- 2011 - Support for three reciprocal UK-Japan visits by Ophthalmologists to carry out collaborative research into the clarification of genotype-phenotype correlations of retinal dystrophies leading to publications and conference papers.
- 2010 - 黄班部遺伝性疾患の臨床診断と遺伝性治療を目標とした分子遺伝学的解析
- 2010 - 黄班部遺伝性疾患の臨床診断と遺伝子治療を目標とした分子遺伝学的解析
- 2010 - Investigation of the natural history of ABCA4-retinopathy in preparation for treatment trials
- 2010 - Investigation of the natural history of ABCA4-retinopathy in preparation for treatment trials
- Clinical and Genetic Characteristics of Childhood-onset Stargardt Disease
- オミックス解析による遺伝性網脈絡膜疾患、家族性緑内障、先天性視神経委縮症の病因・病態機序の解明
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Papers (147):
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William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, Malena Daich Varela, Sagnik Sen, Pallavi Bagga, Bernardo Mendes, Mital Shah, Paula Burke, David Parry, et al. Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom. medRxiv : the preprint server for health sciences. 2024
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Mohamed Katta, Thales Ac de Guimaraes, Yu Fujinami-Yokokawa, Kaoru Fujinami, Michalis Georgiou, Omar A Mahroo, Andrew R Webster, Michel Michaelides. "Congenital Stationary Night Blindness: Structure, Function and Genotype - Phenotype Correlations in a cohort of 122 patients.". Ophthalmology. Retina. 2024
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Sagnik Sen, Lorenzo Fabozzi, Kaoru Fujinami, Yu Fujinami-Yokokawa, Genevieve A Wright, Andrew Webster, Omar Mahroo, Anthony G Robson, Michalis Georgiou, Michel Michaelides. IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History. American journal of ophthalmology. 2024
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Kaoru Fujinami, Nadia Waheed, Yannik Laich, Paul Yang, Yu Fujinami-Yokokawa, Joseph J Higgins, Jonathan T Lu, Darin Curtiss, Cathryn Clary, Michel Michaelides. Stargardt macular dystrophy and therapeutic approaches. The British journal of ophthalmology. 2024. 108. 4. 495-505
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Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H F Weber, Dror Sharon, Eyal Banin, et al. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules. 2024. 14. 3
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MISC (42):
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吉田晶子, 吉田晶子, 吉田晶子, 稲葉慧, 稲葉慧, 浦川優作, 浦川優作, 河合加奈子, 角田和繁, 藤波芳, et al. Questionnaire Survey of the Needs and Usefulness of Genetic Counseling in Inherited Retinal Dystrophy Panel Testing. 日本遺伝カウンセリング学会誌. 2023. 44. 2
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藤波(横川) 優, 藤波 芳, 宮田 裕章. AI時代の遺伝性網膜疾患. 臨床眼科. 2021. 75. 13. 1574-1581
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秋山 邦彦, 渡辺 健, 松木 考顕, 藤波 芳, 角田 和繁, 野田 徹. 網膜剥離術後の黄斑前膜形成予防を目的とする内視界膜剥離:網膜皺襞による適応判定. 眼科臨床紀要. 2021. 14. 10. 688-688
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藤波 優[横川], 鈴木 泰賢, 劉 霄, 楊 麗珠, 角田 和繁, 宮田 裕章, 藤波 芳. 遺伝性網膜疾患における全視野ERGを用いた自動診断支援システムの構築. 眼科臨床紀要. 2021. 14. 7. 458-458
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藤波 芳, 上野 真治, 林 孝彰, 國吉 一樹, 近藤 峰生, 溝田 淳, 篠田 啓, 三宅 養三, 岩田 岳, 角田 和繁. 眼底正常な錐体系ジストロフィの臨床的・遺伝学的スペクトラム. 眼科臨床紀要. 2021. 14. 7. 459-459
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Books (3):
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Stargardt disease in Asian population. Advances in Vision Research, Volume II
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Retinal Imaging in Inherited Retinal Diseases. Annals of Eye Science
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Stargardt disease. Inherited retinal disease
Lectures and oral presentations (61):
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Inherited Retinal Disease: an approach from diagnosis to treatment
(Japan Retinitis Pigmentosa Society Niigata Symposium 2021)
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: Structure and function of inherited retinal disease -pathophysiology to treatment-
(The 10th annual meeting of Japan Perimetric Society 2021)
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Gene therapy -current picture-
(The 124th Annual Meeting of the Japanese Ophthalmological Society)
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Diseases with night blindness and their managements.Education seminar 2. Retinal diseases and electrophysiology
(The 123rd Annual Meeting of the Japanese Ophthalmological Society)
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Clinical and Genetic Characteristics of East Asian Patients with Inherited Retinal Disorders
(Lion Eye Institute Seminar series 2020)
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Education (3):
- 2013 - 2016 Keio University School of Medicine Graduate School of Medicine Ophthalmology
- 1998 - 2004 Nagoya University,School of Medicine,Japan
- 1995 - 1998 Tokai high school,Nagoya,Japan
Work history (10):
- 2020/01 - 現在 独立行政法人 国立病院機構東京医療センター臨床遺伝センター 臨床遺伝センター
- 2018/08 - 現在 UCL,Institute of Ophthalmology/Moorfields Eye Hospital,London,UK Honorary Consultant/Senior visiting reseach associate
- 2020/06 - Homorary progessor, University College London, Institute of Ophthalmology
- 2018/04 - 2018/07 National Hospital Organization, Tokyo Medical Center
- 2017/04 - 2018/03 National Hospital Organization, Tokyo Medical Center
- 2016/04 - 2017/03 UCL Institute of Ophthalmology/Moorfields Eye Hospital Genetics Research Assistant/Clinical Manager
- 2013/04 - 2016/03 National Hospital Organization, Tokyo Medical Center
- 2009/09 - 2013/03 UCL,Institute of Ophthalmology/Moorfields Eye Hospital Genetics/Inherited Eye Disease Research Assistant/Clinical Research Fellow
- 2006/04 - 2009/08 National Hospital Organization, Tokyo Medical Center
- 2004/04 - 2005/03 名古屋第一赤十字病院 前期臨床研修医
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Committee career (17):
- 2021 - 現在 国際臨床視覚電気生理学会 理事
- 2021 - 現在 East Asia Inherited Retinal Disease Society President
- 2020 - 現在 ISCEV (International Society for Clinical Electrophysiology of Vision) Board
- 2019 - 現在 ClinGen (Clinical Genome Resource) Retina Gene Curation Expert Panel Board
- 2018 - East Asia Inherited Retinal Disease Society Chair
- 2018 - Japan Society for Clinical Electrophysiology and Vision Board
- 2017 - East Asia Inherited Retinal Disease Consortium President
- 2016 - The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) studies Co-principal Investigator
- 2016 - ISER (International Society for Eye Research) Member
- 2015 - The American Society of Human Genetics (ASHG) Membe
- 2014 - Asian Eye Genetic Consortium. Clinical Adviser
- 2014 - Japan Eye Genetics Consortium Board
- 2014 - Japanese Society of Human Genetics Member
- 2009 - ARVO (The Association for Research in Vision and Ophthalmology) Member
- 2009 - SCEV (Japanese Society for Clinical Electrophysiology of Vision) Member
- 2006 - ISCEV (International Society for Clinical Electrophysiology of Vision) Member
- 2005 - Japanese Ophthalmological Society Member
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Awards (12):
- 2021 - SANTEN Trust Fund for Ophthalmic Research
- 2020 - Tokyo Retina League, Young Investigator Award
- 2018 - ASHG 2017 reviewer’s choice
- 2017 - Japanese Retina and Vitreous Society (JRVS), Best Presentation Award
- 2016 - Foundation Fighting Blindness Alan Laties Career Development Program Clinical/Research Fellowship Award (USA)
- 2015 - Keio University Ushioda Memorial Award
- 2014 - Keio University Otsuka Fumon/Fusako Fellowship Award
- 2013 - 慶應義塾大学医学研究科博士課程奨学金
- 2013 - National Institute for Health Research, Moorfields Biomedical Research Centre Travel Grant (ARVO annual meeting 2013)
- 2012 - Eberhart Dodt Memorial Award Best Presentation (ISCEV symposium 2012)
- 2010 - ISCEV symposium travel grant 2010
- 2007 - Eberhart Dodt Memorial Award Excellent Presentation (ISCEV symposium 2007)
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Association Membership(s) (2):
International Society of Clinical Electrophysiology of Vision;ISCEV
, East Asia Inherited Retinal Disease Consortium
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