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Next-Generation Pediatric Medicine Lab (National Center for Child Health and Development)
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A lab that explores the mechanisms of growth and sexual development disorders from the genetic level.
AboutAbout the lab
Searching the genome for the causes of endocrine disorders
The Next-Generation Pediatric Medicine Lab is based in the Department of Molecular Endocrinology at the National Center for Child Health and Development, where it studies endocrine disorders such as growth disorders and disorders of sex development.
Targeting endocrine disorders and congenital malformation syndromes from the fetal period through reproductive age, the lab combines genomic and epigenomic analysis with clinical analysis, aiming to clarify how these conditions arise and to develop diagnostic methods and treatments.
The lab collects patient samples in collaboration with clinicians around the world, and examines gene function through cell experiments and animal models.
The lab is located at the National Center for Child Health and Development in Setagaya, Tokyo, and accepts graduate students and young researchers from across Japan.
Key terms
- Monogenic disorder
- A genetic disease caused by a mutation in a single gene in the genome
- Imprinting disorder
- A disease caused by abnormal expression of genes that are expressed in a parent-of-origin-specific manner
- Multifactorial disease
- A disease caused by a combination of both genetic and environmental factors
NewsLab news
A member received the Excellent Presentation Award at the 48th Annual Meeting of the Japanese Society of Pediatric Genetics
A member received the Excellent Presentation Award at the 28th Meeting of the Pediatric Molecular Endocrinology Study Group
A member received the President's Award at the JH Retreat 2025
A member received the Young Investigator Excellent Presentation Award at the 57th Annual Meeting of the Japanese Society for Pediatric Endocrinology
A member received the President's Award in the poster session of the 6NC Retreat 2024
ResearchResearch themes
Abnormal endocrine function causes a wide range of diseases, including growth disorders, disorders of sex development, and reproductive dysfunction. By combining genetic analysis of patient samples with analysis of clinical information, this lab aims to clarify how these diseases arise and to develop diagnostic methods and treatments.
*Illustrative imageIdentifying the causes of monogenic disorders
In patients with congenital diseases caused by a mutation in a single gene, the lab searches for the causative genetic changes using exome analysis and microarray analysis. Candidates that are found are tested in cell experiments and animal models to determine whether they are truly disease-causing genes.
*Illustrative imageResearch on imprinting disorders
The lab studies diseases caused by abnormal expression of imprinted genes, through research using patient samples and clinical information, and through basic research using patient-derived iPS cells and mouse models. It also evaluates the risk of developing these disorders after assisted reproductive technology.
*Illustrative imageFactors in the onset of multifactorial diseases
For childhood diseases caused by a combination of genetic and environmental factors, the lab looks for factors involved in onset through genetic analysis of patients and analysis of clinical information. Hypotheses obtained this way are tested in experiments using cells and animal models.
*Illustrative imageResearch on chromosomal and genomic disorders
Errors in chromosome segregation during meiosis and loss of chromosomes in somatic cells cause abnormalities in chromosome number. The lab studies chromosomal abnormalities and changes in genome structure, including those caused by recombination errors and DNA replication errors.
MembersFaculty
The members of the Department of Molecular Endocrinology include the department director, section chiefs, researchers, graduate students, and research assistants.
- Visiting ProfessorMaki Fukami
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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: “Af3 human-growth-hormone-open-use” MariaPapage / CC BY-SA 4.0 (cropped)
- Identifying the causes of monogenic disorders: “Gene Chip (NIH BioArt 669)” NIH NIAID Ryan Kissinger / Public domain (cropped)
- Research on imprinting disorders: “XBio illustration – Induced Pluripotent Stem Cells (iPSCs)” explorebiology / CC BY 4.0 (cropped)
- Factors in the onset of multifactorial diseases: “Pedigree Chart PAR1” Google Gemini / CC0 (cropped)
- Research on chromosomal and genomic disorders: “Human karyotype (263 17) Karyotype Human, 45,XY t13-14” Doc. RNDr. Josef Reischig, CSc. / CC BY-SA 3.0 (cropped)
- Related lab (Biomarker Discovery Lab (Tohoku Medical Megabank Organization)): “Blood test samples” Fumikas Sagisavas / CC0 (cropped)
- Related lab (Gynecology Lab): “Air Force's first robotic surgery training course established at Keesler 161021-F-BD983-031” Kemberly Groue / Public domain (cropped)
- Related lab (Neurology Lab): “PET MRI Scanner (NIH BioArt )” Courtesy of NIAID Malcolm Houston / Public domain (cropped)
- Related lab (Immunology Lab): “Cell Culture in a tiny Petri dish (cropped)” kaibara87 / CC BY 2.0 (cropped)
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