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Medical Genetics Lab
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A lab that searches for the genes behind hereditary diseases and studies how those diseases arise.
AboutAbout the lab
Exploring disease mechanisms, starting from genes.
The Medical Genetics lab searches for genes that cause hereditary diseases and studies how those diseases arise.
It analyzes causative genes using next-generation sequencers, and builds and analyzes zebrafish models.
Its members include certified genetic counselors from the Department of Clinical Genetics, who provide genetic counseling.
Students in the Public Health and Genetic Counseling Course also belong to this lab.
Key terms
- RASopathies
- A general term for congenital diseases, such as Noonan syndrome, caused by mutations in genes of the RAS/MAPK pathway
- Next-generation sequencer
- A device that reads the sequence of large amounts of DNA at once. It is used when searching for genes that cause diseases
- Genetic counseling
- A medical service that responds to consultations from patients and families about hereditary diseases
NewsLab news
Assistant Professor Shinichi Inoe received the Encouragement Award of the Union of Japanese Researchers Abroad (UJA)
Assistant Professor Taiki Abe received the Silver Prize of the School of Medicine Scholarship Award
A paper on elucidating the disease mechanism in LZTR1 mutant mice was published in JCI Insight
The graduate school is still recruiting students for the Medical Course
ResearchResearch themes
The lab studies the relationship between intracellular signal transduction and hereditary diseases. Its work includes analyzing causative genes with next-generation sequencers, the molecular genetics of thrombocytopenia, lymphatic vessel development and disease, thermogenic fat, and elucidating disease mechanisms using model organisms of RASopathies.
*Illustrative imageCongenital diseases caused by abnormal signal transduction
The lab was the first in the world to identify mutations in the HRAS gene as the cause of Costello syndrome, and it has also reported the causative genes of CFC syndrome and Noonan syndrome. It established the concept of a group of diseases caused by abnormalities in the same signaling pathway (RAS/MAPK syndromes, or RASopathies).
*Illustrative imageExploring disease mechanisms with disease model mice
To elucidate the disease mechanisms of RASopathies and search for treatments, the lab is generating multiple mouse models. Using mice with a Braf mutation (CFC syndrome), an HRAS mutation (Costello syndrome), and an RIT1 mutation, it examines how well symptoms are reproduced, the effects of therapeutic drugs, and metabolic changes.
*Illustrative imageElucidating the cause of radioulnar synostosis
In patients with radioulnar synostosis accompanied by thrombocytopenia and fusion of the forearm bones, the lab identified mutations in the proto-oncogene EVI1 (MECOM). It is investigating the disease mechanism, namely how these mutations affect blood cells and bone formation.
*Illustrative imageThe function of LZTR1, a molecule that degrades RAS
The lab reported that LZTR1, the causative gene of Noonan syndrome, attaches ubiquitin to RAS proteins and is involved in their degradation. A project is under way to examine how the regulation of RAS levels affects cell proliferation, cancer development, and development of the organism.
MembersFaculty
The members of the lab are faculty, certified genetic counselors from the Department of Clinical Genetics and the Center for Personalized Medicine, master's and undergraduate students, technical assistants, and part-time lecturers.As of 2026
- ProfessorYoko Aoki
- Associate ProfessorTetsuya Niihori
- Assistant ProfessorShinichi Inoe
- Assistant ProfessorAyumi Nishiyama
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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: “Genetics Laboratory UMAR Puerto Escondido” Aldo Tadeo Suárez Guido / CC BY-SA 4.0 (cropped)
- Congenital diseases caused by abnormal signal transduction: “Signal Transduction” www.scientificanimations.com / CC BY-SA 4.0 (cropped)
- Exploring disease mechanisms with disease model mice: “Disposable Pipette Tips in Laboratory Tip Boxes” Gannu03 / CC BY-SA 4.0 (cropped)
- Elucidating the cause of radioulnar synostosis: “Smudge cell in a peripheral blood smear” Mikael Häggström, M.D. Author info - Reusing images- Conflicts of interest: None Mikael Häggström, M.D.Consent note: Consent from the patient or patient's relatives is regarded as redundant, because of absence of identifiable features (List of HIPAA identifiers) in the media and case information (See also HIPAA case reports guidance). / CC0 (cropped)
- The function of LZTR1, a molecule that degrades RAS: “Ubiquitin cartoon-2” Rogerdodd / CC BY-SA 3.0 (cropped)
- Related lab (Diabetes, Metabolism and Endocrinology Lab): “Glucose meters” Christidy at English Wikipedia / Public domain (cropped)
- Related lab (Biochemistry Lab): “Rotor for microtubes of an Eppendorf Centrifuge 5430” Karbohut / CC BY-SA 4.0 (cropped)
- Related lab (Emergent Medicine Lab (SiRIUS Institute of Medicine)): “Barbara McClintock ( ) shown in her laboratory in 1947” Smithsonian Institution/Science Service; Restored by Adam Cuerden / Public domain (cropped)
- Related lab (Tumor Biology Lab (Institute of Development, Aging and Cancer)): “Bacterial cell culture on agar plate ( DNA double helix conformation)” Syed Sajidul Islam / CC BY-SA 4.0 (cropped)
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