NIH R01 · 2025
Genetic and molecular basis of hematopoietic abnormalities in ZTTK syndrome
PROJECT SUMMARY Individuals with rare genetic diseases do not receive attention from the medical and research community. One out of two patients diagnosed with a rare disease is a child, meaning that patients and their families must endure long battles relating to disease progress throughout their child’s lifetime. Therefore, characterization of clinical/molecular aspects of rare diseases will greatly benefit young patients and their families. SON is a DNA- and RNA-binding protein that plays dual roles as an RNA splicing factor and a transcriptional repressor. Our research team recently identified Zhu-Tokita-Takenouchi-Kim syndrome (ZTTK syndrome), a rare genetic disease with multi-organ…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.