The ROHHAD-related Autoantibody and Cancer Genomics Project

Team leader: Dr. Akari Nakamura-Utsunomiya, MD. and Ph.D.

Overview

Based on the accumulation of research in recent years, it is thought that ZSCAN1 antibody positivity may be a diagnostic marker for patients diagnosed as ROHHAD syndrome. We are investigating the association between tumors and the production of ZSCAN1 antibodies. We are also developing a method to measure anti-ZSCAN1 and Nax antibody titers in serum using ELISA that can be used in a larger number of patients. Our team is researching the cause of autoantibody using genetic analysis methods from tumor sections and blood samples.

Our team, centered at the Hiroshima University Graduate School of Biomedical Sciences, collects serum samples from ROHHAD patients, primarily from within Japan, and performed protein array analysis to identify the ZSCAN1 antibody. Initially, we performed immunostaining on mouse brain slices, but we have since developed an ELISA analysis to enable antibody testing so that we can test more patients. We are investigating whether antibody titers correlate with disease severity and how antibody production is related to tumor activity.


How can you participate?

We perform antibody analysis using serum and genetic analysis using blood and tumor sections. Patients who have agreed to participate in the study can contact us by email through their doctor.


Meet the Team

Lead Investigator: Dr. Akari Nakamura-Utsunomiya, MD PhD

We are conducting this analysis in collaboration with the Graduate School of Biomedical Sciences at Hiroshima University, Hiroshima City Northern Medical Center Asa Municipal Hospital, Fushimi Pharmaceutical Co., Ltd. Hygiene Inspection Center, and Kazusa DNA Research Institute.

If you would like to get in contact or have any questions about the study please contact: akari-ped@hiroshima-u.ac.jp