Identification of new human monogenic disorders and implementation of genomic medicine in sick newborn infants.

Abstract

Over the past few decades, advances in genomic analysis techniques and bioinformatics have enabled the identification of many new human monogenic diseases. In 2015, the Japan Agency for Medical Research and Development launched a national project for undiagnosed diseases called the Initiative on Rare and Undiagnosed Diseases (IRUD). Through this project, we identified Takenouchi-Kosaki syndrome (OMIM#616737), which is caused by specific pathogenic variants in CDC42, a critical regulator of diverse cellular functions, and is clinically characterized by intellectual disability and macrothrombocytopenia. In addition to the identification of disease-causing genes and new human monogenic disorders, significant progress has also been made in the clinical implementation of genomic medicine. In 2019, we launched a national project called Precise and Rapid Genetic Diagnosis and Treatability for Infants (Priority-i) to provide rapid genetic diagnosis for sick newborns in neonatal intensive care units. It is our mission to apply the benefits of the latest advances in genomic medicine to the clinical care of newborns and children.