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Development and Genetics Lab
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A lab investigating the relationship between genome instability and disease.
AboutAbout the lab
Linking genome instability to disease.
The Development and Genetics Lab conducts research under the keyword "genome instability and disease."
Genome instability disorders are intractable diseases that occur when pathways that repair or recognize DNA damage do not function normally.
The lab searches for the genes that cause these diseases by combining cell-based experiments that examine DNA repair function with next-generation genome analysis, and links the results to diagnosis.
At the bottom of the lab's website, the names of the Development and Genetics Division of the Research Institute of Environmental Medicine, the Department of Human Genetics and Molecular Genetics of the Graduate School of Medicine, and the Gene Analysis Division of the Genome Medicine Center at the University Hospital are listed together.
Key terms
- DNA repair
- The cellular mechanism that restores damaged genomic DNA. Damage is caused by metabolites, radiation, chemicals, and other factors
- Genome instability disorder
- A rare, hard-to-treat hereditary disease that occurs when pathways that repair or recognize DNA damage do not function
- Omics analysis
- An approach that, in addition to genome analysis of genotypes, comprehensively examines factors such as the amounts of RNA and proteins
- Initiative on Rare and Undiagnosed Diseases
- A program that aims to clarify disease mechanisms through information sharing and diagnosis confirmation for cases that cannot be diagnosed by conventional methods
ResearchResearch themes
The genomic DNA of living organisms is constantly damaged by metabolites, oxidative stress, radiation, chemicals, and more, and mechanisms such as DNA repair are essential to keep the genome stable. The lab studies genome instability disorders, which result from defects in these mechanisms, at the gene and molecular level, with the aim of applying the findings to diagnosis.
*Illustrative imageGenome instability disorders
The lab studies rare, intractable hereditary diseases that arise when pathways that restore DNA damage, including DNA repair mechanisms, do not function normally. Many of them show a predisposition to cancer, developmental abnormalities, or premature aging.
*Illustrative imageOmics analysis for diagnosis
The lab has established a cell screening method that uses DNA repair function specific to each disease as an indicator, and has built a genetic diagnosis system that combines complementation testing with viral vectors and next-generation genome analysis. It accepts genetic diagnosis requests from Japan and abroad free of charge.
*Illustrative imageInitiative on Rare and Undiagnosed Diseases (IRUD)
The lab collects, classifies, and analyzes cases in which genome instability is suspected but no diagnosis has been confirmed, and investigates the genes and variants that cause disease. Using DNA repair testing and next-generation genome analysis, it has found a new disease-causing variant in the XRCC4 gene in one case.
MembersFaculty
The members of the Development and Genetics Lab are faculty, doctoral students, and technical assistants.
- ProfessorTomoo Ogi
- LecturerYasuyoshi Oka
- LecturerYosuke Nishio
- Project Associate ProfessorKoyo Tsujikawa
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Report an errorAbout the images
The top and research theme images are illustrative and were not taken at the lab. They are cropped from Wikimedia Commons images. Cropped CC BY-SA images are provided under the same CC BY-SA license as the original (version shown on each line).
- Top image: “DNA Double Helix Model - Human Evolution Gallery - Indian Museum - Kolkata” Biswarup Ganguly / CC BY 3.0 (cropped)
- Genome instability disorders: “Human karyotype (263 17) Karyotype Human, 45,XY t13-14” Doc. RNDr. Josef Reischig, CSc. / CC BY-SA 3.0 (cropped)
- Omics analysis for diagnosis: “Next generation sequencing slide” Bainscou / CC BY 3.0 (cropped)
- Initiative on Rare and Undiagnosed Diseases (IRUD): “Protein XRCC4 PDB 1fu1” Emw / CC BY-SA 3.0 (cropped)
- Related lab (ゲノ
ム動態制御分野): “Agarose gel electrophoresis DNA” Microrao / CC BY-SA 4.0 (cropped) - Related lab (内分泌代謝分野): “(20250417) Blood glucose meter 08” Roy Zuo / CC BY-SA 4.0 (cropped)
- Related lab (疾患制御学分野): “Collagen (triple helix protein with schematic ribbons)” Eric Hahn / CC BY-SA 4.0 (cropped)
- Related lab (若手研
究者インキュベートセクション): “Microscope à fluorescence (Ifremer )” Olivier Dugornay / CC BY 4.0 (cropped)
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