The ZTTK SON-Shine Foundation, a 501(c)(3) nonprofit organization founded by Erin Eun-Young Ahn, Ph.D., a professor in the Division of Molecular and Cellular Pathology, together with parents of patients with ZTTK syndrome, has been selected by the Chan Zuckerberg Initiative (CZI) to receive an $800,000 five-year grant as part of CZI’s Rare As One project.

ZTTK syndrome is an ultrarare, neurodevelopmental disorder caused by mutations on the SON gene. ZTTK syndrome can cause varying and widespread symptoms, including motor relay, intellectual disability, speech delay, feeding delays, seizures, metabolic abnormalities, and other medical complexities. There are no treatments or cures for ZTTK today.

Since the early 2000s, Ahn has been studying the SON protein and gene. Her work led to the discovery of ZTTK in 2016, and to the establishment of the ZTTK SON-Shine Foundation in 2021 to provide a community of support among newly diagnosed patients and their families. In late 2021, Ahn was named a UAB Heersink School of Medicine Featured Discovery winner for an additional study on RNA splicing and SON. Most recently, Ahn received a $2 million R01 grant from the National Heart, Lung, and Blood Institute to study hematological abnormalities in ZTTK syndrome. She serves as lead researcher and co-chair of the Scientific Advisory Board for the SON-Shine Foundation.

“The Rare As One grant will support various activities of the foundation including database development and in-person conferences as well as continued translation of scientific research to benefit our ZTTK community,” says Ahn. “We are excited to learn from and partner with other CZI grantees to find efficiencies in understanding and treating many clinical aspects of ZTTK syndrome.”

The ZTTK SON-Shine Foundation was founded in 2021 to improve the understanding, diagnosis, and treatment of ZTTK syndrome. Led by parents of children with ZTTK syndrome, the foundation is committed to improving the lives of individuals with ZTTK by accelerating research to develop accessible and effective treatments, and ultimately, a cure. It focuses on funding robust science, building strong support systems for the global ZTTK community, and raising awareness about ZTTK syndrome. Recently, with new leadership, the foundation has initiated efforts on drug development and launched active fundraising.

“I’m learning a lot from this research, but I am learning much more from the patients with ZTTK and their parents,” says Ahn. “I’m learning lessons of a lifetime in resilience, dedication and optimism.”

The Chan Zuckerberg Initiative was founded in 2015 to help solve some of society’s toughest challenges — from eradicating disease and improving education, to addressing the needs of local communities. CZI’s mission is to build a healthier future for everyone.