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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.