Our division undertakes both the research administration of the NCCHD, and research activities in human molecular genetics.

Our administrative arm manages the NCCHD’s common facilities, equipment, and research cooperation activities. We are also responsible for delivering the latest research technologies and equipment to researchers at the NCCHD.The goal of our research arm is to investigate the structure and function of human genes using molecular, cellular and biochemical techniques to define the molecular pathogenesis of both hereditary diseases and cancer. We aim to identify responsible genes through positional cloning strategies and/or candidate gene approaches, detect mutations in the disease gene in patients, and analyze gene expression regulation and function using experimental systems. We currently focus on developmental anomalies of organs and tumor suppressor genes in childhood tumors, and undertake research in genome imprinting, apoptosis and gene therapy.

Research projects

Functional analysis of responsible genes in developmental abnormalities of human disorders

This project investigates the mutation, potential transcriptional regulation and function of PAX genes. The PAX gene family encode transcription regulators that recognize target genes through a paired-type DNA binding domain, and play an important function in tissue and organ formation of the embryo. Both humans and mice have nine genes in the PAX family. Transcriptional and functional cooperation among these genes may greatly affect cellular functions such as proliferation, differentiation and apoptosis in some developing organs.

Molecular study on candidate genes involved in childhood tumors

This project investigates the mutations and molecular functions of tumor suppressor genes and oncogenes—which either repress or activate the transcription of a variety of target genes involved in cell growth, differentiation and apoptosis—in relation to childhood tumor development and malignancies, such as Wilms’ tumor and neuroblastoma.