Fujinami Kaoru

Homepage URL (1)： https://www.fujinamik.com

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

Show all

Papers (149)：

Kaoru Fujinami, Koji M Nishiguchi, Akio Oishi, Masato Akiyama, Yasuhiro Ikeda. Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan. Japanese journal of ophthalmology. 2024
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

ｍore...

MISC (130)：

藤波芳. 眼科分野の遺伝子治療遺伝性網膜ジストロフィの遺伝子補充治療. 日本外科系連合学会誌. 2024. 49. 3. 194-194
前田亜希子, 横田聡, 浦川優作, 吉田晶子, 稲葉慧, 河合加奈子, 松崎光博, 酒井大輝, 田保和也, 木場みゆき, et al. 遺伝性網膜ジストロフィにおける遺伝子パネル検査を用いた遺伝子診断の先進医療. 日本眼科学会雑誌. 2024. 128. 4. 305-310
藤波芳. 「ルクスターナ注」(ボレチゲンネパルボベク)の保険収載. 日本の眼科. 2024. 95. 4. 480-481
藤波芳. 網脈絡膜疾患の遺伝学的診断. 日本眼科学会雑誌. 2024. 128. 臨増. 142-142
秋山健祐, 國見洋光, 堅田侑作, 藤波芳, 角田和繁, 栗原俊英, 根岸一乃. 胸腺腫外科的切除に伴い視野障害進行停止と精神症状の改善を認めた傍腫瘍性疾患の一例. 日本眼科学会雑誌. 2024. 128. 臨増. 186-186

ｍore...

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)

ｍore...

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

Show all

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

Show all

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)

Show all

Association Membership(s) (2)：

International Society of Clinical Electrophysiology of Vision;ISCEV , East Asia Inherited Retinal Disease Consortium

※ Researcher’s information displayed in J-GLOBAL is based on the information registered in researchmap. For details, see here.

Return to Previous Page