About JEGC

Japan Eye Genetics Consortium (JEGC) was established in 2011 to identify genes responsible for 37 inherited retinal diseases (IRD) in Japanese population. More than 2,700 DNA samples has now been collected from 38 Ophthalmology Departments in Japan for whole genome/whole exome analysis. Our study shows that approximately 70% of families with IRD carry novel gene mutations. To date, number of novel genes has been identified and expected for more in the future. This high prevalance of novel gene mutations in Japanese population is a challenge to the consortium for accurate diagnostic. Functional studies for novel disease-causing proteins are being performed to understand the molecular mechanism of disease onset and to apply these information for development of future therapeutics.

Target Inherited Retinal Diseases for JEGC

Leber Congenital Amaurosis
Retinitis Pigmentosa
Enhanced S-Cone Syndrome
Usher Syndrome
Stargardt Disease (STGD)
Macular Dystrophy (non STGD) or Cone (Cone-rod) Dystrophy
Occult Macular Dystrophy (including Miyake's Disease)
Cone (Cone-rod) Dystrophy with normal fundus appearance
North Carolina Macular Dystrophy
Foveal Hypoplasia
Microphthalmus/Nanophthalmus
Congenital Stationary Night Blindness (CSNB)
Oguchi's Disease
Flecked Retina Syndrome
Bietti Crystalline Corneoretinal Dystrophy
Choroideremia
Achromatopsia
Blue Cone Monochromatism
Gyrate Atrophy
Bradyopsia
Retinioschisis
Familial drusen
Familial AMD
Bestrophinopaty
Wnt signaling retinopathy
Stickler syndrome
Wagner Syndrome
Dominant Optic Atrophy (DOA)
Mitochondrial Retinopathy
Leber's Hereditary Optic Neuropathy (LHON)
Ocular Albinism
Oculocutaneous Albinism
Albinism with systemic abnormalities
Angioid Streaks
Retinoblastoma
Inherited Optic Neuropathy
Inherited Glaucoma

History of JEGC

・June 2023: 1,000 samples of WGS completed.
・October 2021: 150 pedigree WGS completed.
・December 2020: Whole genome sequencing (WGS) for IRD starts.
・October 28, 2020: Genomics Japan kickoff meeting in Tokyo.
・December 2019: Genomics Japan was approved by Ministry of Health, Labour and Welfare of Japan.
・March 2019: 2,100 samples of whole exome analysis completed. Mutation detection rate increased to 53%.
・April 2017: JEGC 3rd phase, Resaerch on Rare and Intractable Diseases Program of Japan, AMED
・October 2016: New JEGC Genotype-Phenotype Database in operation
・March 2016: 1,300 samples of whole exome analysis completed
・April 2015: JEGC 2nd phase, Research on Rare and Intractable Diseases Program of Japan, AMED
・April 2014: JEGC 2nd phase, Research on Rare and Intractable Diseases Program of Japan, Japanese Ministry of Health, Labour and Welfare
・March 2013: 500 samples of whole exome analysis completed
・March 2012: 50 samples of whole exome analysis completed
・April 2011: JEGC 1st phase, Research for Practical Application of Medical Treatment in the Field of Intractable Diseases and Cancer Diseases Program of Japan, Japanese Ministry of Health, Labour and Welfare. Mutation detection rate at 17%.

Government Funding for JEGC


Japan Agency for Medical Reserach and Development (AMED)

Program Name: Research for Rare and Intractable Diseases
Grant Number: 22ek0109493h0003
Principal Investigator: Norihiro Kokudo (National Center for Global Health and Medicine)
Co-Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Study of whole genome sequencing for promotion of genomic medicine for rare diseases
Year: 2022

Program Name: Research for Rare and Intractable Diseases
Grant Number: 21ek0109493h0002
Principal Investigator: Norihiro Kokudo (National Center for Global Health and Medicine)
Co-Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Study of whole genome sequencing for promotion of genomic medicine for rare diseases
Year: 2021

Program Name: Research for Rare and Intractable Diseases
Grant Number: 20ek0109493h0001
Principal Investigator: Norihiro Kokudo (National Center for Global Health and Medicine)
Co-Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Study of whole genome sequencing for promotion of genomic medicine for rare diseases
Year: 2020

Program Name: Research for Rare and Intractable Diseases
Grant Number: 19ek0109282h0003
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Omics analysis to identify disease-causing mutation and molecular mechanism of inherited retinal diseases, inherited glaucoma and inherited optic neuropathy
Year: 2019

Program Name: Research for Rare and Intractable Diseases
Grant Number: 18ek0109282h0002
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Omics analysis to identify disease-causing mutation and molecular mechanism of inherited retinal diseases, inherited glaucoma and inherited optic neuropathy
Year: 2018

Program Name: Research for Rare and Intractable Diseases
Grant Number: 17ek0109282s0001
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Omics analysis to identify disease-causing mutation and molecular mechanism of inherited retinal diseases, inherited glaucoma and inherited optic neuropathy
Year: 2017

Program Name: Research for Rare and Intractable Diseases
Grant Number: 16ek0109072h0003
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Collection, management and provision of biological samples for hereditary reticulochoroidal disease and elucidation of pathology
Year: 2016

Program Name: Research for Rare and Intractable Diseases
Grant Number: 15ek0109072h0003
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Collection, management and provision of biological samples for hereditary reticulochoroidal disease and elucidation of pathology
Year: 2015

Japanese Ministry of Health, Labour and Welfare

Program Name: Research for Rare and Intractable Diseases
Grant Number: H26-Itaku(Nann)-Ippann-087
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Collection, management and provision of biological samples for hereditary reticulochoroidal disease and elucidation of pathology
Year: 2014

Program Name: Research for Practical Application of Medical Treatment in the Field of Intractable Diseases and Cancer Diseases
Grant Number: H23-Jitsuyouka(Nannbyo)-Ippan-006
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Exome sequence analysis using a next-generation sequencer
Elucidation of the causative gene and pathogenic mechanism of macular dystrophy
Year: 2011 - 2013