国立研究開発法人 国立成育医療研究センター National Center for Child Health and Development

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研究者・企業の方へ Scholar & Enterprise

研究者・企業の方へ Scholar & Enterprise

Department of Human Genetics

We aim to identify causative genes for child intractable hereditary diseases and analyze their functions to develop new gene-based therapeutic treatments.

1. Stem cell gene therapy for primary immunodeficiencies

In collaboration with the National Institutes of Health (USA), we are conducting a clinical trial of stem cell gene therapy for chronic granulomatous disease using a retroviral vector. We also coordinate clinical trials of lentiviral-based gene therapy for Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency. We employ next-generation DNA sequencing and digital polymerase chain reactions (PCR) to evaluate the safety of gene therapy clinical trials, to ensure quality control of the clinical vectors and to analyze vector integration sites.

2. Establishment of disease-specific iPS cells

We establish specific iPS cells from peripheral blood or skin fibroblasts obtained from patients with intractable hereditary diseases such as primary immunodeficiencies and congenital metabolic disorders.
We perform detailed morbidity analysis and investigate inheritable genetic-modification using established iPS cells.

3. Gene therapy for congenital metabolic disorders

Lysosomal diseases including Niemann-Pick disease and mucopolysaccharidosis are good targets for gene therapy. We are currently developing a new strategy of Adeno-associated virus (AAV) vector-mediated gene delivery for these diseases.

4. Basic research of viral vectors

We carry out the cloning of transcriptional repressors of human origin and study the inhibition mechanism of gene expression using retroviral vectors.
We are developing safer viral vectors with high curative effects for future gene therapy clinical trials.

5. NCCHD BioBank

We store iPS cells from child intractable hereditary diseases as a bioresource in the NCCHD BioBank and support the BioBank in various research endeavors, including drug design and development.