Izumi Laboratory Research Overview

Molecular Mechanistic Investigation of Novel Genetic Diagnoses due to Chromatin Protein Mutations

The Izumi Lab previously discovered genetic mutations in AFF4 genes, cause a multisystem developmental disorder, CHOPS syndrome. We are investigating the disease mechanism of CHOPS syndrome and other new genetic diagnoses.

Molecular Mechanistic Investigation of Nuclear Speckle Disorders

Nuclear speckles are small subnuclear membraneless organelles of enigmatic function. We previously reported that genetic mutations in NKAP encoding one of the nuclear speckle proteins cause NKAP-related syndrome. We are investigating the disease mechanism of NKAP-related syndrome.

Molecular Mechanistic Investigation of Mosaic Chromosomal Disorders

Pallister-Killian syndrome is a mosaic chromosomal disorder due to isochromosome 12p. We are investigating the disease mechanism of Pallister-Killian syndrome.