By: Christina Crowe
Published Date: Aug 31
Erin Eun-Young Ahn, Ph.D., Associate Professor, Division of Molecular & Cellular Pathology, has been working with the SON protein and gene since her early days of her career as a researcher at the University of California in San Diego. At the time, she had no idea her work would lead to the possibility of a possible medical treatment for a very rare disease.
Erin Eun-Young Ahn. Ph.D., Associate Professor
Zhu-Tokita-Takenouchi-Kim Syndrome, or ZTTK, is a rare disease caused by a genetic mutation of the SON gene, characterized by moderate to severe intellectual disability and developmental delays affecting systems throughout the body, including the cardiovascular, genitourinary, musculoskeletal, nervous, and digestive systems, among others.
Ahn recently celebrated the establishment of the ZTTK SON-Shine Foundation, an organization designed to recognize the syndrome and increase awareness of it. She serves as the group’s primary researcher.
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