On June 20, 2022, the family of Kimberly Greenberg and HIST1H1E (H1-E) Syndrome Foundation presented a $45,000 gift check to Dr. Jiang’s lab. To date, Jiang lab has received three times of gift checks (over $100,000) to fund the H1-E research from the family, in addition to the research funding. Dr.Jiang reported the first ASD case with mutation in H1-4 (HIST1H1E) gene that encodes a H1.4 linker histone (H1-4). However, almost nothing is known about how deficiency of histone H1 linker could result in very select ASD and intellectual disability (ID). Currently, Jiang lab has succeeded on modeling H1-4 causing neurodevelopmental defects using human H1-4 patient derived iPSC and brain organoid as well as mutant mice. Based on those tools, the biological mechanism underlying will be uncovered and treatment will be developed in the future.
Submitted by Sheng-Nan Qiao on June 23, 2022