Dr. Erin (Eun-Young) Ahn is an Associate Professor at the University of Alabama at Birmingham and she has been dedicated to SON research since 2005. Dr. Ahn initiated her study on SON when she was working as a postdoctoral fellow in Dr. Dong-Er Zhang’s laboratory at the Scripps Research Institute and UC San Diego. Her work identified SON’s function for the first time in the regulation of RNA splicing. Since 2012, Dr. Ahn has been leading her independent laboratory to identify SON’s roles in regulation of gene expression associated with various human developmental processes and diseases.

Dr. Ahn initiated and led a multi-group collaboration to identify the pathogenic role of SON mutations and the underlying molecular mechanisms. The study involved more than 60 collaborators, including clinicians, genetic counselors and researchers from all over the US and Europe. This finding, published in 2016, made a major contribution to defining ZTTK syndrome and its diagnosis.

Using molecular biology, cell biology and genomic technologies as well as mouse models, Dr. Ahn and her research team are continuing their research. Dr. Ahn’s team is working to uncover the detailed molecular mechanisms of SON’s functions and to understand how SON variants found in our ZTTK SON-shine children affect development and the functional maintenance of various organs/tissues, with the ultimate goal of finding potential treatment. Dr. Ahn is also collaborating with other scientists and clinicians all over the world to establish knowledge about the clinical features of ZTTK syndrome.

Dr. Ahn and her research team are proud of being part of the ZTTK SON-Shine community, and wish for their continued research efforts to benefit our precious ZTTK SON-Shines and their families.