Dr. Mara Cowen is the newly appointed Scientific Director at the ZTTK SON-Shine Foundation, a rare disease patient advocacy group representing ZTTK syndrome (SON haploinsufficiency). As a Duke postdoc from April 2024 to December 2025, Mara worked with Dr. Anne West studying the functional and gene expression consequences of mutations in linker histone H1.4, which are causative for Rahman syndrome (another rare, genetic disease). Using RNA- and ATAC-sequencing, Mara and her lab mates demonstrated that synaptic and neuronal communication pathways were disrupted in cells affected by H1.4 mutation, which she then characterized through immunostaining and multi-electrode recording of human iPSC-derived neurons.

This project both allowed Mara to deepen her knowledge of the rare disease space and gave her technical experience directly applicable to her current position supporting work on ZTTK syndrome. Moreover, Mara took advantage of considerable networking opportunities during her postdoctoral training and credits her mentor Dr. West with forging several valuable connections in the rare disease field, encouraging her to apply for outside professional development funding through the Dana Foundation, and supporting her volunteer work.

Mara has worked along-side patient advocacy groups throughout the course of her academic training, beginning as an undergrad when she attended her first patient and family conference. Seeing the real-world impact that scientific discovery had on these families’ lives and the immense value they bring to shaping research priorities, Mara was inspired to pursue a career in patient advocacy. In the early 2025 Mara began formally volunteering and networking in the rare disease space, attending conferences and meeting with Scientific Directors. By summer of 2025, Mara took on a leadership role at CureGRIN, running their biorepository collection, analyzing census data, and holding GRI Genes Research Roundtables.

It was this enthusiastic engagement with the rare disease community that ultimately opened the door to Mara’s current role. In addition to following her lead of volunteering and conducting informational interviews, Mara advises postdocs interested in patient advocacy careers to diversify their skills and knowledge, e.g. through attending seminars in other fields. “As a Scientific Director at a patient advocacy group, having a broad, strategic perspective is essential for determining how to allocate limited resources,” Mara points out.

In her new role, Mara is excited to develop skills that complement her postdoctoral training and to build research initiatives that bring together diverse partners – and to work directly with those impacted by disease. She relates, “I am most looking forward to working with patients and families to ensure their perspectives are meaningfully represented in basic and translational science.” Congratulations Dr. Cowen on your new position!

You can connect with Mara at mcowen@zttk.org.