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

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)：

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
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
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
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
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)：

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
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
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
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
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)：

Stargardt disease in Asian population. Advances in Vision Research, Volume II
Retinal Imaging in Inherited Retinal Diseases. Annals of Eye Science
Stargardt disease. Inherited retinal disease

Lectures and oral presentations (61)：

Inherited Retinal Disease: an approach from diagnosis to treatment
(Japan Retinitis Pigmentosa Society Niigata Symposium 2021)
: Structure and function of inherited retinal disease -pathophysiology to treatment-
(The 10th annual meeting of Japan Perimetric Society 2021)
Gene therapy -current picture-
(The 124th Annual Meeting of the Japanese Ophthalmological Society)
Diseases with night blindness and their managements.Education seminar 2. Retinal diseases and electrophysiology
(The 123rd Annual Meeting of the Japanese Ophthalmological Society)
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

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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

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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)

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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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