Principal Investigator_N.Matsumoto

Isolation of molecules responsible for human developmental disorders and development of diagnostic methods


Naomichi Matsumoto
Professor, Human Genetics

Our Aim

We aim to uncover the genetic basis for human developmental disorders with unknown causes and develop diagnostic methods.


Cancer-related molecules are strongly associated with those for human developmental disorders. Validating molecules for developmental disorders will be eventually useful for providing new insights into cancer research.

Research Overview

We are interested in various types of human developmental disorders with unknown causes. Using advanced research technologies, we try to validate the genetic basis of human disorders and develop diagnostic methods.


We successfully isolated CHST14 responsible for a new type of Ehlers-Danlos syndrome. The gene encodes a key enzyme for post-translational modifications. We also isolated other genes for other developmental disorders.

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